#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
WASF3	10810	broad.mit.edu	37	13	27259959	27259959	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr13:27259959G>A	ENST00000335327.5	+	10	1664	c.1486G>A	c.(1486-1488)Gac>Aac	p.D496N	WASF3_ENST00000361042.4_Missense_Mutation_p.D493N	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	496					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCAGAGTTCGACGAGAACGA	0.592																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(1477-1479)Gac>Aac		WAS protein family, member 3							79.0	64.0	70.0					13																	27259959		2203	4300	6503	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27259959G>A	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1486G>A	13.37:g.27259959G>A	ENSP00000335055:p.Asp496Asn					WASF3_ENST00000335327.5_Missense_Mutation_p.D496N	p.D493N			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	10	1702	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	496					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.1477G>A	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308850	0.81247	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.65178	-0.14;-0.05	5.64	5.64	0.86602	.	0.047161	0.85682	D	0.000000	T	0.76227	0.3958	M	0.79011	2.435	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.54238	0.746;0.665	T	0.79519	-0.1770	10	0.87932	D	0	-30.6646	19.6727	0.95916	0.0:0.0:1.0:0.0	.	493;496	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	N	493;496	ENSP00000354325:D493N;ENSP00000335055:D496N	ENSP00000335055:D496N	D	+	1	0	WASF3	26157959	1.000000	0.71417	0.102000	0.21198	0.636000	0.38137	9.282000	0.95840	2.645000	0.89757	0.561000	0.74099	GAC		0.592	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			18	21	0	0	0	1	0	18	21				
PEAR1	375033	broad.mit.edu	37	1	156883853	156883853	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:156883853G>A	ENST00000338302.3	+	23	3148	c.2923G>A	c.(2923-2925)Gac>Aac	p.D975N	PEAR1_ENST00000292357.7_Missense_Mutation_p.D975N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	975	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCACAGAGAGACAGTGGCAC	0.627																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(2923-2925)Gac>Aac		platelet endothelial aggregation receptor 1							17.0	23.0	21.0					1																	156883853		2199	4297	6496	SO:0001583	missense	375033					integral to membrane		g.chr1:156883853G>A	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2923G>A	1.37:g.156883853G>A	ENSP00000344465:p.Asp975Asn					PEAR1_ENST00000292357.7_Missense_Mutation_p.D975N	p.D975N			Q5VY43	PEAR1_HUMAN			23	3148	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		975			Pro-rich.		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	c.2923G>A	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318185	0.60524	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	D;D	0.87887	-2.31;-2.31	5.08	5.08	0.68730	.	0.000000	0.52532	D	0.000076	T	0.57858	0.2082	N	0.00771	-1.2	0.27428	N	0.954096	D	0.55172	0.97	P	0.54346	0.749	T	0.61671	-0.7015	10	0.02654	T	1	.	13.8328	0.63391	0.0:0.0:1.0:0.0	.	975	Q5VY43	PEAR1_HUMAN	N	975	ENSP00000344465:D975N;ENSP00000292357:D975N	ENSP00000292357:D975N	D	+	1	0	PEAR1	155150477	1.000000	0.71417	0.999000	0.59377	0.707000	0.40811	2.163000	0.42377	2.640000	0.89533	0.655000	0.94253	GAC		0.627	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		8	18	0	0	0	1	0	8	18				
USH2A	7399	broad.mit.edu	37	1	216251612	216251612	+	Silent	SNP	A	A	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:216251612A>G	ENST00000307340.3	-	27	5777	c.5391T>C	c.(5389-5391)aaT>aaC	p.N1797N	USH2A_ENST00000366943.2_Silent_p.N1797N|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1797	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCACTTTCCATTACAATAGG	0.418										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5389-5391)aaT>aaC		Usher syndrome 2A (autosomal recessive, mild)							209.0	223.0	218.0					1																	216251612		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216251612A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5391T>C	1.37:g.216251612A>G		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.N1797N|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	p.N1797N			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	27	5777	-			1797			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.5391T>C	CCDS31025.1																																																																																				0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		12	357	0	0	0	1	0	12	357				
PHF3	23469	broad.mit.edu	37	6	64395059	64395059	+	Missense_Mutation	SNP	C	C	G	rs375555642		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:64395059C>G	ENST00000262043.3	+	4	1776	c.1436C>G	c.(1435-1437)tCt>tGt	p.S479C	PHF3_ENST00000393387.1_Missense_Mutation_p.S479C|PHF3_ENST00000509330.1_Missense_Mutation_p.S479C			Q92576	PHF3_HUMAN	PHD finger protein 3	479					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTAGCGTTTCTTACTTAGAG	0.358																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(1435-1437)tCt>tGt		PHD finger protein 3							43.0	48.0	46.0					6																	64395059		2199	4297	6496	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64395059C>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1436C>G	6.37:g.64395059C>G	ENSP00000262043:p.Ser479Cys					PHF3_ENST00000509330.1_Missense_Mutation_p.S479C|PHF3_ENST00000393387.1_Missense_Mutation_p.S479C	p.S479C			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	1776	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		479					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.1436C>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	6.561	0.471810	0.12461	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.59224	1.51;1.13;1.66;1.21;0.28;1.66	5.38	5.38	0.77491	.	0.224319	0.22973	N	0.053401	T	0.60051	0.2239	L	0.47716	1.5	0.29599	N	0.84784	D;D	0.89917	0.992;1.0	P;D	0.69479	0.754;0.964	T	0.59773	-0.7391	10	0.87932	D	0	-7.2026	14.0295	0.64606	0.1511:0.8489:0.0:0.0	.	479;479	Q92576;D6R9X2	PHF3_HUMAN;.	C	293;391;479;432;479;479	ENSP00000424694:S293C;ENSP00000425227:S391C;ENSP00000262043:S479C;ENSP00000424078:S432C;ENSP00000422841:S479C;ENSP00000377048:S479C	ENSP00000262043:S479C	S	+	2	0	PHF3	64453018	0.981000	0.34729	0.960000	0.40013	0.121000	0.20230	3.122000	0.50446	2.520000	0.84964	0.591000	0.81541	TCT		0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			26	44	0	0	0	1	0	26	44				
HFM1	164045	broad.mit.edu	37	1	91861942	91861942	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:91861942G>T	ENST00000370425.3	-	3	190	c.92C>A	c.(91-93)tCa>tAa	p.S31*	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	31					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCAATCCAATGACTTTTCATT	0.303																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(91-93)tCa>tAa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							65.0	63.0	64.0					1																	91861942		2203	4298	6501	SO:0001587	stop_gained	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91861942G>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.92C>A	1.37:g.91861942G>T	ENSP00000359454:p.Ser31*					HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	p.S31*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	3	190	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	31					B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	ENST00000370425.3	37	c.92C>A	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211615	0.79240	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000455133	.	.	.	5.37	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9711	0.41754	0.0936:0.0:0.9064:0.0	.	.	.	.	X	31;64;31	.	ENSP00000359454:S31X	S	-	2	0	HFM1	91634530	0.715000	0.27946	0.997000	0.53966	0.502000	0.33828	2.450000	0.44943	1.261000	0.44149	0.655000	0.94253	TCA		0.303	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		29	55	1	0	7.26314e-15	1	8.32604e-15	29	55				
SPAG17	200162	broad.mit.edu	37	1	118527381	118527381	+	Silent	SNP	A	A	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:118527381A>G	ENST00000336338.5	-	41	5759	c.5694T>C	c.(5692-5694)aaT>aaC	p.N1898N	SPAG17_ENST00000492438.1_5'Flank	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1898						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCATTAGGTAATTCTGTGTTG	0.313																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(5692-5694)aaT>aaC		sperm associated antigen 17							177.0	185.0	182.0					1																	118527381		2202	4299	6501	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118527381A>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5694T>C	1.37:g.118527381A>G							p.N1898N	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	41	5759	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1898					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.5694T>C	CCDS899.1																																																																																				0.313	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		15	29	0	0	0	1	0	15	29				
CSMD1	64478	broad.mit.edu	37	8	2966213	2966213	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr8:2966213G>A	ENST00000520002.1	-	45	7224	c.6669C>T	c.(6667-6669)ctC>ctT	p.L2223L	CSMD1_ENST00000400186.3_Silent_p.L2223L|CSMD1_ENST00000542608.1_Silent_p.L2222L|CSMD1_ENST00000602557.1_Silent_p.L2223L|CSMD1_ENST00000537824.1_Silent_p.L2222L|CSMD1_ENST00000602723.1_Silent_p.L2223L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2223	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACGCCGTTTCGAGGGCTGTGT	0.498																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(6667-6669)ctC>ctT		CUB and Sushi multiple domains 1							81.0	80.0	80.0					8																	2966213		1922	4137	6059	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2966213G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6669C>T	8.37:g.2966213G>A						CSMD1_ENST00000602557.1_Silent_p.L2223L|CSMD1_ENST00000400186.3_Silent_p.L2223L|CSMD1_ENST00000602723.1_Silent_p.L2223L|CSMD1_ENST00000537824.1_Silent_p.L2222L|CSMD1_ENST00000542608.1_Silent_p.L2222L	p.L2223L			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	45	7224	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2223			CUB 13.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.6669C>T		.	.	.	.	.	.	.	.	.	.	G	0.031	-1.334535	0.01287	.	.	ENSG00000183117	ENST00000335551	.	.	.	4.8	-9.61	0.00550	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.683	0.51470	0.5838:0.2037:0.2125:0.0	.	.	.	.	X	1703	.	.	R	-	1	2	CSMD1	2953620	0.001000	0.12720	0.012000	0.15200	0.001000	0.01503	-1.794000	0.01753	-1.821000	0.01213	-1.744000	0.00683	CGA		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	4	0	0	0	1	0	7	4				
EYA1	2138	broad.mit.edu	37	8	72211886	72211886	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr8:72211886T>C	ENST00000340726.3	-	8	1265	c.626A>G	c.(625-627)aAt>aGt	p.N209S	EYA1_ENST00000388741.2_Missense_Mutation_p.N175S|EYA1_ENST00000419131.1_Missense_Mutation_p.N204S|EYA1_ENST00000303824.7_Missense_Mutation_p.N203S|EYA1_ENST00000388740.3_Missense_Mutation_p.N176S|EYA1_ENST00000388743.2_Missense_Mutation_p.N208S|EYA1_ENST00000388742.4_Missense_Mutation_p.N209S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	209					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGTGAACTATTAAATCCAGA	0.274																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(625-627)aAt>aGt		eyes absent homolog 1 (Drosophila)							115.0	124.0	121.0					8																	72211886		2203	4299	6502	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72211886T>C	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.626A>G	8.37:g.72211886T>C	ENSP00000342626:p.Asn209Ser					EYA1_ENST00000303824.7_Missense_Mutation_p.N203S|EYA1_ENST00000388742.4_Missense_Mutation_p.N209S|EYA1_ENST00000388740.3_Missense_Mutation_p.N176S|EYA1_ENST00000419131.1_Missense_Mutation_p.N204S|EYA1_ENST00000388743.2_Missense_Mutation_p.N208S|EYA1_ENST00000388741.2_Missense_Mutation_p.N175S	p.N209S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		8	1265	-	Breast(64;0.046)		209					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.626A>G	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	T	6.789	0.514583	0.12944	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.79782	0.4505	N	0.02721	-0.515	0.80722	D	1	D;B;B;D;B	0.76494	0.999;0.028;0.028;0.999;0.028	D;B;B;D;B	0.80764	0.991;0.013;0.03;0.994;0.044	T	0.76132	-0.3071	10	0.02654	T	1	-22.3562	15.9947	0.80232	0.0:0.0:0.0:1.0	.	203;136;176;209;204	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	S	209;209;177;176;203;175;208;204	ENSP00000373394:N209S;ENSP00000342626:N209S;ENSP00000373392:N176S;ENSP00000303221:N203S;ENSP00000373393:N175S;ENSP00000373395:N208S;ENSP00000410176:N204S	ENSP00000303221:N203S	N	-	2	0	EYA1	72374440	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.630000	0.83225	2.238000	0.73509	0.477000	0.44152	AAT		0.274	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		8	71	0	0	0	1	0	8	71				
RASGRP2	10235	broad.mit.edu	37	11	64497248	64497248	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:64497248C>A	ENST00000354024.3	-	14	1829	c.1577G>T	c.(1576-1578)gGc>gTc	p.G526V	RASGRP2_ENST00000394432.3_Missense_Mutation_p.G526V|RASGRP2_ENST00000377497.3_Missense_Mutation_p.G526V|RASGRP2_ENST00000377494.1_Missense_Mutation_p.G526V	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	526					blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCATTTGAGGCCCTGCTTGTA	0.502																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1576-1578)gGc>gTc		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							85.0	91.0	89.0					11																	64497248		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64497248C>A	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1577G>T	11.37:g.64497248C>A	ENSP00000338864:p.Gly526Val					RASGRP2_ENST00000377497.3_Missense_Mutation_p.G526V|RASGRP2_ENST00000394432.3_Missense_Mutation_p.G526V|RASGRP2_ENST00000354024.3_Missense_Mutation_p.G526V	p.G526V			Q7LDG7	GRP2_HUMAN			13	2499	-			526					A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.1577G>T	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071843	0.76301	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	4.86	3.95	0.45737	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.119718	0.56097	D	0.000032	D	0.96583	0.8885	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	D	0.96278	0.9204	10	0.87932	D	0	2.259	9.5434	0.39266	0.0:0.9013:0.0:0.0987	.	526;526	Q7LDG7;A6NDC7	GRP2_HUMAN;.	V	526	ENSP00000366714:G526V;ENSP00000377953:G526V;ENSP00000366717:G526V;ENSP00000338864:G526V	ENSP00000338864:G526V	G	-	2	0	RASGRP2	64253824	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.676000	0.68131	1.181000	0.42912	0.561000	0.74099	GGC		0.502	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		28	39	1	0	3.73148e-12	1	4.15099e-12	28	39				
CLPB	81570	broad.mit.edu	37	11	72040797	72040797	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:72040797G>A	ENST00000294053.3	-	7	1090	c.917C>T	c.(916-918)gCc>gTc	p.A306V	CLPB_ENST00000543042.1_Missense_Mutation_p.A105V|CLPB_ENST00000437826.2_Missense_Mutation_p.A261V|CLPB_ENST00000340729.5_Missense_Mutation_p.A247V|CLPB_ENST00000538039.1_Missense_Mutation_p.A276V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	306					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CCCTTCTCGGGCATAATCCAA	0.512																																						ENST00000294053.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(916-918)gCc>gTc		ClpB caseinolytic peptidase B homolog (E. coli)							101.0	97.0	98.0					11																	72040797		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72040797G>A	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.917C>T	11.37:g.72040797G>A	ENSP00000294053:p.Ala306Val					CLPB_ENST00000543042.1_Missense_Mutation_p.A105V|CLPB_ENST00000340729.5_Missense_Mutation_p.A247V|CLPB_ENST00000538039.1_Missense_Mutation_p.A276V|CLPB_ENST00000437826.2_Missense_Mutation_p.A261V	p.A306V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN			7	1090	-			306					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.917C>T	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.88|14.88	2.668689|2.668689	0.47677|0.47677	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000544683|ENST00000544382	T;D;T;D;T;T;D|.	0.81739|.	0.5;-1.53;-0.77;-1.53;-0.77;-0.77;-1.53|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69441|0.69441	0.3111|0.3111	L|L	0.52011|0.52011	1.625|1.625	0.46279|0.46279	D|D	0.998968|0.998968	B;P;P;P;D|.	0.67145|.	0.248;0.708;0.875;0.708;0.996|.	B;B;P;B;D|.	0.66847|.	0.112;0.227;0.46;0.227;0.947|.	T|T	0.66348|0.66348	-0.5946|-0.5946	10|5	0.21540|.	T|.	0.41|.	-14.3764|-14.3764	17.6563|17.6563	0.88179|0.88179	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	105;247;261;276;306|.	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078|.	.;.;.;.;CLPB_HUMAN|.	V|S	306;276;311;247;261;105;130|84	ENSP00000294053:A306V;ENSP00000441518:A276V;ENSP00000443822:A311V;ENSP00000340385:A247V;ENSP00000407296:A261V;ENSP00000439746:A105V;ENSP00000442651:A130V|.	ENSP00000294053:A306V|.	A|P	-|-	2|1	0|0	CLPB|CLPB	71718445|71718445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.228000|0.228000	0.25075|0.25075	7.379000|7.379000	0.79691|0.79691	2.495000|2.495000	0.84180|0.84180	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.512	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		7	221	0	0	0	1	0	7	221				
KALRN	8997	broad.mit.edu	37	3	124103731	124103731	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:124103731G>C	ENST00000240874.3	+	11	1961	c.1804G>C	c.(1804-1806)Gag>Cag	p.E602Q	KALRN_ENST00000360013.3_Missense_Mutation_p.E602Q|KALRN_ENST00000460856.1_Missense_Mutation_p.E602Q	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	602					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGAAGCAGCAGAGCAGTTGGC	0.582																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1804-1806)Gag>Cag		kalirin, RhoGEF kinase							96.0	81.0	86.0					3																	124103731		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124103731G>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1804G>C	3.37:g.124103731G>C	ENSP00000240874:p.Glu602Gln					KALRN_ENST00000460856.1_Missense_Mutation_p.E602Q|KALRN_ENST00000240874.3_Missense_Mutation_p.E602Q	p.E602Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			11	1931	+			602					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1804G>C	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.531529|4.531529	0.85706|0.85706	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170|ENST00000354186	T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88|.	5.35|5.35	4.48|4.48	0.54585|0.54585	.|.	0.061304|.	0.64402|.	D|.	0.000005|.	T|T	0.56455|0.56455	0.1986|0.1986	L|L	0.37850|0.37850	1.14|1.14	0.80722|0.80722	D|D	1|1	B;P;B|.	0.45348|.	0.418;0.856;0.365|.	B;P;B|.	0.48368|.	0.305;0.575;0.203|.	T|T	0.53330|0.53330	-0.8454|-0.8454	10|5	0.32370|.	T|.	0.25|.	.|.	14.2615|14.2615	0.66088|0.66088	0.0712:0.0:0.9288:0.0|0.0712:0.0:0.9288:0.0	.|.	602;602;602|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	Q|H	602;602;602;78|579	ENSP00000418611:E602Q;ENSP00000240874:E602Q;ENSP00000353109:E602Q;ENSP00000402950:E78Q|.	ENSP00000240874:E602Q|.	E|Q	+|+	1|3	0|2	KALRN|KALRN	125586421|125586421	1.000000|1.000000	0.71417|0.71417	0.895000|0.895000	0.35142|0.35142	0.991000|0.991000	0.79684|0.79684	9.597000|9.597000	0.98273|0.98273	1.482000|1.482000	0.48325|0.48325	0.655000|0.655000	0.94253|0.94253	GAG|CAG		0.582	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		27	58	0	0	0	1	0	27	58				
CYBB	1536	broad.mit.edu	37	X	37660565	37660565	+	Silent	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chrX:37660565G>C	ENST00000378588.4	+	8	928	c.861G>C	c.(859-861)cgG>cgC	p.R287R	CYBB_ENST00000545017.1_Silent_p.R255R|CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000536160.1_Silent_p.R20R|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	287	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GGTTGGTGCGGTTTTGGCGAT	0.408																																						ENST00000378588.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						c.(859-861)cgG>cgC		cytochrome b-245, beta polypeptide							354.0	304.0	321.0					X																	37660565		2202	4300	6502	SO:0001819	synonymous_variant	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37660565G>C	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.861G>C	X.37:g.37660565G>C						CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Silent_p.R255R|CYBB_ENST00000536160.1_Silent_p.R20R|TM4SF2_ENST00000465127.1_Intron	p.R287R	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN			8	928	+			287			FAD-binding FR-type.		A8K138|Q2PP16	Silent	SNP	ENST00000378588.4	37	c.861G>C	CCDS14242.1																																																																																				0.408	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			5	96	0	0	0	1	0	5	96				
GTSE1	51512	broad.mit.edu	37	22	46722368	46722368	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr22:46722368C>G	ENST00000454366.1	+	9	1753	c.1541C>G	c.(1540-1542)tCt>tGt	p.S514C		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	495					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGACGCTCATCTGGGCCAGCA	0.572																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(1540-1542)tCt>tGt		G-2 and S-phase expressed 1							53.0	49.0	50.0					22																	46722368		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46722368C>G	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1541C>G	22.37:g.46722368C>G	ENSP00000415430:p.Ser514Cys						p.S514C	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	9	1753	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	495					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.1541C>G	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	C	11.99	1.805112	0.31961	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.07908	3.15	3.22	-1.4	0.08968	.	1.018720	0.07844	N	0.963486	T	0.21022	0.0506	M	0.69823	2.125	0.09310	N	1	D;D	0.71674	0.998;0.998	D;P	0.64321	0.924;0.889	T	0.18681	-1.0329	10	0.54805	T	0.06	-2.4296	6.2775	0.20989	0.0:0.5021:0.0:0.4979	.	495;474	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	C	514;474	ENSP00000415430:S514C	ENSP00000354634:S474C	S	+	2	0	GTSE1	45101032	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.221000	0.09202	-0.186000	0.10533	-0.339000	0.08088	TCT		0.572	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		24	40	0	0	0	1	0	24	40				
PKD1	5310	broad.mit.edu	37	16	2140462	2140462	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr16:2140462G>A	ENST00000262304.4	-	45	12476	c.12268C>T	c.(12268-12270)Ctc>Ttc	p.L4090F	RP11-304L19.1_ENST00000570072.1_RNA|MIR1225_ENST00000408729.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.L4089F	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4090					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGTGCCCAGAGCCCCACACAC	0.692																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(12268-12270)Ctc>Ttc		polycystic kidney disease 1 (autosomal dominant)							20.0	26.0	24.0					16																	2140462		2181	4290	6471	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2140462G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12268C>T	16.37:g.2140462G>A	ENSP00000262304:p.Leu4090Phe					PKD1_ENST00000423118.1_Missense_Mutation_p.L4089F	p.L4090F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			45	12476	-			4090					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.12268C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	4.597	0.110972	0.08831	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.70869	-0.52;-0.52	3.98	3.02	0.34903	Polycystin cation channel, PKD1/PKD2 (1);	0.548018	0.17645	N	0.166870	T	0.61739	0.2371	L	0.42245	1.32	0.20403	N	0.999907	P;P	0.50443	0.922;0.935	P;P	0.51355	0.667;0.627	T	0.52668	-0.8545	10	0.07482	T	0.82	.	3.3811	0.07255	0.2765:0.2143:0.5092:0.0	.	4089;4090	P98161-3;P98161	.;PKD1_HUMAN	F	4090;4089;3424	ENSP00000262304:L4090F;ENSP00000399501:L4089F	ENSP00000262304:L4090F	L	-	1	0	PKD1	2080463	1.000000	0.71417	0.724000	0.30704	0.035000	0.12851	6.283000	0.72646	0.879000	0.35944	0.306000	0.20318	CTC		0.692	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			5	17	0	0	0	1	0	5	17				
CUL9	23113	broad.mit.edu	37	6	43173746	43173746	+	Splice_Site	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:43173746C>T	ENST00000252050.4	+	25	4879	c.4795C>T	c.(4795-4797)Cat>Tat	p.H1599Y	CUL9_ENST00000354495.3_Splice_Site_p.H1489Y|CUL9_ENST00000372647.2_Splice_Site_p.H1599Y	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1599					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GTGCTGCAGGCATTATATGGC	0.627																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.e25-1		cullin 9							54.0	52.0	53.0					6																	43173746		2203	4300	6503	SO:0001630	splice_region_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43173746C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4794-1C>T	6.37:g.43173746C>T						CUL9_ENST00000372647.2_Splice_Site_p.H1599_splice|CUL9_ENST00000354495.3_Splice_Site_p.H1489_splice	p.H1599_splice	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			25	4879	+			1599					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Splice_Site	SNP	ENST00000252050.4	37	c.4793_splice	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	9.621	1.133824	0.21123	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74315	-0.83;-0.83;-0.83	5.6	3.55	0.40652	Cullin, N-terminal (1);Cullin homology (2);	0.416196	0.29152	N	0.012995	T	0.33876	0.0878	N	0.05124	-0.11	0.34719	D	0.728511	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.17098	0.017;0.004;0.004	T	0.08659	-1.0711	10	0.23302	T	0.38	-18.4498	11.7894	0.52061	0.0:0.8103:0.0:0.1897	.	1489;1599;1599	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	Y	1599;1489;1599	ENSP00000252050:H1599Y;ENSP00000346490:H1489Y;ENSP00000361730:H1599Y	ENSP00000252050:H1599Y	H	+	1	0	CUL9	43281724	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.515000	0.45512	1.350000	0.45770	0.556000	0.70494	CAT		0.627	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	Missense_Mutation	15	82	0	0	0	1	0	15	82				
SREBF1	6720	broad.mit.edu	37	17	17722357	17722357	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr17:17722357G>A	ENST00000261646.5	-	5	1222	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	SREBF1_ENST00000355815.4_Silent_p.L376L|SREBF1_ENST00000395757.1_Silent_p.L92L|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000338854.5_Silent_p.L346L|SREBF1_ENST00000435530.2_Silent_p.L346L	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	346	Interaction with LMNA. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCAGATCCTTGAGCTCAATGA	0.602																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(1126-1128)ctC>ctT		sterol regulatory element binding transcription factor 1							95.0	90.0	92.0					17																	17722357		2203	4300	6503	SO:0001819	synonymous_variant	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17722357G>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1038C>T	17.37:g.17722357G>A						SREBF1_ENST00000395757.1_Silent_p.L92L|SREBF1_ENST00000435530.2_Silent_p.L346L|SREBF1_ENST00000261646.5_Silent_p.L346L|SREBF1_ENST00000338854.5_Silent_p.L346L	p.L376L	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			6	1297	-			346			Interaction with LMNA (By similarity).|Leucine-zipper.		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Silent	SNP	ENST00000261646.5	37	c.1128C>T	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	G	8.972	0.973240	0.18736	.	.	ENSG00000072310	ENST00000395751	.	.	.	4.62	0.993	0.19825	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.5731	3.8723	0.09042	0.0825:0.1366:0.5047:0.2763	.	.	.	.	X	354	.	.	Q	-	1	0	SREBF1	17663082	0.979000	0.34478	1.000000	0.80357	0.962000	0.63368	0.096000	0.15147	0.925000	0.37094	0.561000	0.74099	CAA		0.602	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		16	38	0	0	0	1	0	16	38				
VPS13B	157680	broad.mit.edu	37	8	100836120	100836120	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr8:100836120G>C	ENST00000358544.2	+	51	9430	c.9319G>C	c.(9319-9321)Gac>Cac	p.D3107H	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D3082H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3107					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAGATTGAAGACAAGACTAC	0.318																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(9319-9321)Gac>Cac		vacuolar protein sorting 13 homolog B (yeast)							166.0	171.0	169.0					8																	100836120		2203	4297	6500	SO:0001583	missense	157680				protein transport			g.chr8:100836120G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9319G>C	8.37:g.100836120G>C	ENSP00000351346:p.Asp3107His					VPS13B_ENST00000357162.2_Missense_Mutation_p.D3082H|VPS13B_ENST00000395996.1_3'UTR	p.D3107H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		51	9430	+	Breast(36;3.73e-07)		3107					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.9319G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631976	0.87660	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.85702	-2.02;-2.02	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.89269	0.6667	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.90135	0.4209	10	0.72032	D	0.01	.	19.5232	0.95194	0.0:0.0:1.0:0.0	.	3082;3107	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	H	3082;3107	ENSP00000349685:D3082H;ENSP00000351346:D3107H	ENSP00000349685:D3082H	D	+	1	0	VPS13B	100905296	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.568000	0.98166	2.677000	0.91161	0.655000	0.94253	GAC		0.318	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		5	190	0	0	0	1	0	5	190				
ZNF333	84449	broad.mit.edu	37	19	14829049	14829049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr19:14829049C>T	ENST00000292530.6	+	12	1001	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Nonsense_Mutation_p.Q195*	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGAGCAACCTCAGCCTGGAGA	0.383																																					NSCLC(60;75 1281 16985 25154 29885)	ENST00000292530.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(910-912)Cag>Tag		zinc finger protein 333							47.0	49.0	48.0					19																	14829049		2203	4300	6503	SO:0001587	stop_gained	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14829049C>T		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.910C>T	19.37:g.14829049C>T	ENSP00000292530:p.Gln304*					ZNF333_ENST00000536363.1_Nonsense_Mutation_p.Q195*|ZNF333_ENST00000540689.2_Intron	p.Q304*	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN			12	1001	+			304					Q6P2E6|Q86WS6|Q8TDL0	Nonsense_Mutation	SNP	ENST00000292530.6	37	c.910C>T	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	C	39	7.727477	0.98456	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	.	.	.	3.29	0.956	0.19608	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.6545	0.17635	0.0:0.6751:0.1968:0.1281	.	.	.	.	X	195;304	.	ENSP00000292530:Q304X	Q	+	1	0	ZNF333	14690049	0.012000	0.17670	0.001000	0.08648	0.138000	0.21146	1.911000	0.39937	0.181000	0.19994	0.460000	0.39030	CAG		0.383	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		15	31	0	0	0	1	0	15	31				
OMA1	115209	broad.mit.edu	37	1	59002191	59002191	+	Silent	SNP	A	A	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:59002191A>G	ENST00000371226.3	-	3	836	c.723T>C	c.(721-723)taT>taC	p.Y241Y	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_Silent_p.Y241Y	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	241					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTACTGCTTCATATTCCAGTT	0.318																																						ENST00000371226.3																			0				NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18						c.(721-723)taT>taC		OMA1 zinc metallopeptidase							56.0	58.0	57.0					1																	59002191		2203	4300	6503	SO:0001819	synonymous_variant	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:59002191A>G	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.723T>C	1.37:g.59002191A>G						OMA1_ENST00000467063.1_5'UTR|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Silent_p.Y241Y	p.Y241Y	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN			3	836	-	all_cancers(7;6.54e-05)		241					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Silent	SNP	ENST00000371226.3	37	c.723T>C	CCDS608.1	.	.	.	.	.	.	.	.	.	.	a	9.014	0.983309	0.18889	.	.	ENSG00000162600	ENST00000421528	.	.	.	5.39	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.9895	10.6267	0.45512	0.9221:0.0:0.0778:0.0	.	.	.	.	R	83	.	.	X	-	1	0	OMA1	58774779	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	1.868000	0.39509	1.054000	0.40438	0.451000	0.29950	TGA		0.318	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243		12	12	0	0	0	1	0	12	12				
MEP1A	4224	broad.mit.edu	37	6	46761204	46761204	+	Splice_Site	SNP	G	G	T	rs200982626		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:46761204G>T	ENST00000230588.4	+	1	78	c.69G>T	c.(67-69)ccG>ccT	p.P23P		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	23					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGCTGTACCGGTAAGTCGAG	0.353																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.e1+1		meprin A, alpha (PABA peptide hydrolase)							182.0	169.0	174.0					6																	46761204		2203	4300	6503	SO:0001630	splice_region_variant	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46761204G>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.69+1G>T	6.37:g.46761204G>T							p.P23_splice	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		1	78	+			23					A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Splice_Site	SNP	ENST00000230588.4	37	c.69_splice	CCDS4918.1																																																																																				0.353	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588	Silent	18	202	1	0	8.10497e-08	1	8.56031e-08	18	202				
ABCA13	154664	broad.mit.edu	37	7	48550759	48550759	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:48550759A>T	ENST00000435803.1	+	51	13628	c.13604A>T	c.(13603-13605)aAc>aTc	p.N4535I	ABCA13_ENST00000544596.1_Missense_Mutation_p.N265I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4535					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCGCAAGAACTTGGCAGCC	0.453																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(13603-13605)aAc>aTc		ATP-binding cassette, sub-family A (ABC1), member 13							99.0	96.0	97.0					7																	48550759		1956	4154	6110	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48550759A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13604A>T	7.37:g.48550759A>T	ENSP00000411096:p.Asn4535Ile					ABCA13_ENST00000544596.1_Missense_Mutation_p.N265I	p.N4535I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			51	13628	+			4535					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.13604A>T	CCDS47584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.9|21.9	4.219885|4.219885	0.79464|0.79464	.|.	.|.	ENSG00000179869|ENSG00000179869	ENST00000435451|ENST00000435803;ENST00000411975;ENST00000544596	.|D;D;D	.|0.89343	.|-2.5;-2.5;-2.5	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.000000	.|0.52532	.|D	.|0.000070	D|D	0.94896|0.94896	0.8350|0.8350	M|M	0.89095|0.89095	3.005|3.005	0.45806|0.45806	D|D	0.998682|0.998682	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.998;0.999;1.0	D|D	0.95597|0.95597	0.8659|0.8659	5|10	.|0.87932	.|D	.|0	.|.	13.0427|13.0427	0.58908|0.58908	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|265;2237;4535	.|F5H7B7;Q86UQ4-3;Q86UQ4	.|.;.;ABCAD_HUMAN	D|I	55|4535;308;265	.|ENSP00000411096:N4535I;ENSP00000391042:N308I;ENSP00000442634:N265I	.|ENSP00000391042:N308I	E|N	+|+	3|2	2|0	ABCA13|ABCA13	48521305|48521305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.888000|5.888000	0.69758|0.69758	2.050000|2.050000	0.60909|0.60909	0.460000|0.460000	0.39030|0.39030	GAA|AAC		0.453	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	36	0	0	0	1	0	6	36				
CDKL4	344387	broad.mit.edu	37	2	39406359	39406359	+	Missense_Mutation	SNP	C	C	T	rs370476409		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:39406359C>T	ENST00000395035.3	-	8	895	c.896G>A	c.(895-897)cGt>cAt	p.R299H	CDKL4_ENST00000378803.1_Missense_Mutation_p.R299H			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	299						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TCCTTCATTACGTGCTTTTCT	0.378																																						ENST00000378803.1																			0				breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12						c.(895-897)cGt>cAt		cyclin-dependent kinase-like 4							114.0	110.0	111.0					2																	39406359		2203	4300	6503	SO:0001583	missense	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39406359C>T		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.896G>A	2.37:g.39406359C>T	ENSP00000378476:p.Arg299His					CDKL4_ENST00000395035.3_Missense_Mutation_p.R299H	p.R299H	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN			8	895	-		all_hematologic(82;0.248)	299					Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37	c.896G>A		.	.	.	.	.	.	.	.	.	.	C	8.408	0.843516	0.16963	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	T;T;T	0.70869	0.34;-0.5;-0.52	5.67	4.8	0.61643	.	0.116625	0.39274	N	0.001409	T	0.52484	0.1737	N	0.14661	0.345	0.32565	N	0.530549	B;B	0.11235	0.004;0.0	B;B	0.06405	0.002;0.0	T	0.57894	-0.7732	10	0.41790	T	0.15	-7.9458	10.7392	0.46143	0.0:0.9123:0.0:0.0877	.	299;299	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	H	81;299;299	ENSP00000389833:R81H;ENSP00000368080:R299H;ENSP00000378476:R299H	ENSP00000368080:R299H	R	-	2	0	CDKL4	39259863	0.842000	0.29525	0.490000	0.27465	0.021000	0.10359	1.323000	0.33701	1.400000	0.46741	0.655000	0.94253	CGT		0.378	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		41	94	0	0	0	1	0	41	94				
TECPR2	9895	broad.mit.edu	37	14	102891533	102891533	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr14:102891533G>A	ENST00000359520.7	+	6	1082	c.856G>A	c.(856-858)Gag>Aag	p.E286K	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.E286K	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	286					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CAGCTTACCTGAGAGGCACCT	0.483																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(856-858)Gag>Aag		tectonin beta-propeller repeat containing 2							96.0	93.0	94.0					14																	102891533		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102891533G>A	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.856G>A	14.37:g.102891533G>A	ENSP00000352510:p.Glu286Lys					TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.E286K	p.E286K	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			6	1082	+			286					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.856G>A	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.276749	0.80580	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.15834	2.39	5.29	5.29	0.74685	.	0.096661	0.64402	D	0.000001	T	0.24890	0.0604	M	0.76002	2.32	0.40849	D	0.983738	P;B	0.40066	0.701;0.45	B;B	0.35770	0.21;0.159	T	0.12760	-1.0535	10	0.56958	D	0.05	.	18.9585	0.92670	0.0:0.0:1.0:0.0	.	286;286	A5PKY3;O15040	.;TCPR2_HUMAN	K	286	ENSP00000352510:E286K	ENSP00000352510:E286K	E	+	1	0	TECPR2	101961286	1.000000	0.71417	0.890000	0.34922	0.875000	0.50365	8.262000	0.89862	2.481000	0.83766	0.558000	0.71614	GAG		0.483	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		38	90	0	0	0	1	0	38	90				
ZFP2	80108	broad.mit.edu	37	5	178359312	178359312	+	Missense_Mutation	SNP	A	A	C	rs375480084		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:178359312A>C	ENST00000361362.2	+	5	1528	c.998A>C	c.(997-999)aAa>aCa	p.K333T	ZFP2_ENST00000520301.1_Missense_Mutation_p.K333T|ZFP2_ENST00000523286.1_Missense_Mutation_p.K333T|ZFP2_ENST00000503510.2_Missense_Mutation_p.K333T	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GAGTGTGGAAAAGCTTTCAGT	0.378																																						ENST00000361362.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20						c.(997-999)aAa>aCa		ZFP2 zinc finger protein							68.0	68.0	68.0					5																	178359312		2203	4300	6503	SO:0001583	missense	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178359312A>C	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.998A>C	5.37:g.178359312A>C	ENSP00000354453:p.Lys333Thr					ZFP2_ENST00000503510.2_Missense_Mutation_p.K333T|ZFP2_ENST00000523286.1_Missense_Mutation_p.K333T|ZFP2_ENST00000520301.1_Missense_Mutation_p.K333T	p.K333T	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	1528	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	333					A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	c.998A>C	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	a	18.61	3.661754	0.67700	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34386	N	0.004009	T	0.60314	0.2259	M	0.89478	3.035	0.43152	D	0.994921	D	0.89917	1.0	D	0.91635	0.999	T	0.68880	-0.5292	10	0.87932	D	0	-12.7671	12.3422	0.55101	1.0:0.0:0.0:0.0	.	333	Q6ZN57	ZFP2_HUMAN	T	333	ENSP00000354453:K333T;ENSP00000430980:K333T;ENSP00000430531:K333T;ENSP00000438114:K333T	ENSP00000354453:K333T	K	+	2	0	ZFP2	178291918	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.905000	0.69893	2.011000	0.59026	0.533000	0.62120	AAA		0.378	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		31	50	0	0	0	1	0	31	50				
CYSLTR2	57105	broad.mit.edu	37	13	49281765	49281765	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr13:49281765T>C	ENST00000282018.3	+	1	815	c.812T>C	c.(811-813)tTg>tCg	p.L271S		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	271					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ACCGTCCACTTGACGACATGG	0.498																																						ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(811-813)tTg>tCg		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						152.0	132.0	139.0					13																	49281765		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281765T>C	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.812T>C	13.37:g.49281765T>C	ENSP00000282018:p.Leu271Ser						p.L271S	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	815	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	271					Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.812T>C	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.182707	0.38511	.	.	ENSG00000152207	ENST00000282018	T	0.10192	2.9	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000139	T	0.29288	0.0729	L	0.57536	1.79	0.43385	D	0.995497	D	0.89917	1.0	D	0.83275	0.996	T	0.00708	-1.1600	10	0.38643	T	0.18	.	15.0691	0.72021	0.0:0.0:0.0:1.0	.	271	Q9NS75	CLTR2_HUMAN	S	271	ENSP00000282018:L271S	ENSP00000282018:L271S	L	+	2	0	CYSLTR2	48179766	1.000000	0.71417	0.134000	0.22075	0.006000	0.05464	7.971000	0.88012	2.163000	0.67991	0.533000	0.62120	TTG		0.498	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			26	44	0	0	0	1	0	26	44				
TP53BP2	7159	broad.mit.edu	37	1	224009053	224009053	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:224009053T>C	ENST00000343537.7	-	2	335	c.44A>G	c.(43-45)tAt>tGt	p.Y15C	TP53BP2_ENST00000391878.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	9					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTTACTGAGATACACGGTAAG	0.408																																						ENST00000343537.7																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(43-45)tAt>tGt		tumor protein p53 binding protein, 2							216.0	220.0	219.0					1																	224009053		1984	4179	6163	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:224009053T>C	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.44A>G	1.37:g.224009053T>C	ENSP00000341957:p.Tyr15Cys					TP53BP2_ENST00000391878.2_5'UTR	p.Y15C	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	2	335	-			9					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.44A>G	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.942778	0.73672	.	.	ENSG00000143514	ENST00000343537	T	0.48201	0.82	5.75	4.61	0.57282	.	0.059506	0.64402	D	0.000001	T	0.66386	0.2784	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68969	-0.5269	10	0.87932	D	0	.	12.2806	0.54760	0.1272:0.0:0.0:0.8728	.	15	B4DG66	.	C	15	ENSP00000341957:Y15C	ENSP00000341957:Y15C	Y	-	2	0	TP53BP2	222075676	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.942000	0.70203	0.983000	0.38602	0.482000	0.46254	TAT		0.408	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		60	181	0	0	0	1	0	60	181				
LMOD3	56203	broad.mit.edu	37	3	69168368	69168368	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:69168368G>A	ENST00000420581.2	-	2	1317	c.1138C>T	c.(1138-1140)Ccg>Tcg	p.P380S	LMOD3_ENST00000489031.1_Missense_Mutation_p.P380S|LMOD3_ENST00000475434.1_Missense_Mutation_p.P380S	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	380						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTGGGACCCGGAAGCTCAAAA	0.473																																						ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(1138-1140)Ccg>Tcg		leiomodin 3 (fetal)							112.0	108.0	109.0					3																	69168368		1900	4117	6017	SO:0001583	missense	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69168368G>A	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1138C>T	3.37:g.69168368G>A	ENSP00000414670:p.Pro380Ser					LMOD3_ENST00000489031.1_Missense_Mutation_p.P380S|LMOD3_ENST00000475434.1_Missense_Mutation_p.P380S	p.P380S	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	1317	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	380					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.1138C>T	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680453	0.68042	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	D;D;D	0.93133	-3.17;-3.17;-3.17	5.84	5.84	0.93424	.	0.049022	0.85682	D	0.000000	D	0.95300	0.8475	L	0.60455	1.87	0.58432	D	0.999999	D	0.56035	0.974	P	0.57244	0.816	D	0.94339	0.7569	10	0.45353	T	0.12	-15.7896	20.1466	0.98079	0.0:0.0:1.0:0.0	.	380	Q0VAK6	LMOD3_HUMAN	S	380	ENSP00000414670:P380S;ENSP00000417210:P380S;ENSP00000418645:P380S	ENSP00000414670:P380S	P	-	1	0	LMOD3	69251058	1.000000	0.71417	0.514000	0.27761	0.899000	0.52679	4.656000	0.61483	2.779000	0.95612	0.591000	0.81541	CCG		0.473	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		46	16	0	0	0	1	0	46	16				
OR8H3	390152	broad.mit.edu	37	11	55890130	55890130	+	Silent	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:55890130C>T	ENST00000313472.3	+	1	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATATTTCCTTCACGGGCTGCT	0.428																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(280-282)ttC>ttT		olfactory receptor, family 8, subfamily H, member 3							340.0	332.0	335.0					11																	55890130		2201	4296	6497	SO:0001819	synonymous_variant	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890130C>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.282C>T	11.37:g.55890130C>T							p.F94F	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	282	+	Esophageal squamous(21;0.00693)		94					Q6IFB7	Silent	SNP	ENST00000313472.3	37	c.282C>T	CCDS31519.1																																																																																				0.428	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		43	261	0	0	0	1	0	43	261				
FBN2	2201	broad.mit.edu	37	5	127609536	127609536	+	Silent	SNP	A	A	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:127609536A>G	ENST00000508053.1	-	67	8810	c.7836T>C	c.(7834-7836)tgT>tgC	p.C2612C	FBN2_ENST00000262464.4_Silent_p.C2612C			P35556	FBN2_HUMAN	fibrillin 2	2612	EGF-like 44; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACTAACCTTCACAGTTCAGTC	0.368																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(7834-7836)tgT>tgC		fibrillin 2							88.0	83.0	84.0					5																	127609536		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127609536A>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7836T>C	5.37:g.127609536A>G						FBN2_ENST00000262464.4_Silent_p.C2612C	p.C2612C			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	67	8810	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2612			EGF-like 44; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.7836T>C	CCDS34222.1																																																																																				0.368	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		4	46	0	0	0	1	0	4	46				
LGSN	51557	broad.mit.edu	37	6	63995647	63995647	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:63995647C>T	ENST00000370657.4	-	3	208	c.175G>A	c.(175-177)Gac>Aac	p.D59N	LGSN_ENST00000370658.5_Missense_Mutation_p.D59N			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	59					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGACTGCTGTCCCTCATGCAA	0.403																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(175-177)Gac>Aac		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						95.0	88.0	90.0					6																	63995647		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63995647C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.175G>A	6.37:g.63995647C>T	ENSP00000359691:p.Asp59Asn					LGSN_ENST00000370657.4_Missense_Mutation_p.D59N	p.D59N	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			3	208	-			59					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.175G>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159777	0.38119	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.20598	2.06;2.11	5.61	1.78	0.24846	.	0.681702	0.15544	N	0.256784	T	0.04092	0.0114	N	0.25647	0.755	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.14578	0.011;0.001	T	0.39354	-0.9618	10	0.36615	T	0.2	-11.0623	4.6478	0.12580	0.1515:0.5433:0.0:0.3052	.	59;59	Q5TDP6-2;Q5TDP6	.;LGSN_HUMAN	N	59	ENSP00000359692:D59N;ENSP00000359691:D59N	ENSP00000359691:D59N	D	-	1	0	LGSN	64053606	0.015000	0.18098	0.034000	0.17996	0.684000	0.39900	0.599000	0.24089	0.405000	0.25532	0.655000	0.94253	GAC		0.403	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		11	34	0	0	0	1	0	11	34				
HECW2	57520	broad.mit.edu	37	2	197171917	197171917	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:197171917C>T	ENST00000260983.3	-	12	2808	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	HECW2_ENST00000409111.1_Missense_Mutation_p.E520K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	876	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTATTTTCCTCAGGCCTCTCA	0.438																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2626-2628)Gag>Aag		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							140.0	121.0	128.0					2																	197171917		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197171917C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2626G>A	2.37:g.197171917C>T	ENSP00000260983:p.Glu876Lys					HECW2_ENST00000409111.1_Missense_Mutation_p.E520K	p.E876K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			12	2808	-			876			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.2626G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705475	0.89018	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.83755	-1.76;-1.76	5.39	5.39	0.77823	.	0.248334	0.39759	N	0.001271	D	0.89663	0.6780	L	0.58101	1.795	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.88746	0.3247	10	0.48119	T	0.1	.	19.3359	0.94319	0.0:1.0:0.0:0.0	.	876	Q9P2P5	HECW2_HUMAN	K	520;876	ENSP00000386775:E520K;ENSP00000260983:E876K	ENSP00000260983:E876K	E	-	1	0	HECW2	196880162	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.069000	0.76755	2.809000	0.96659	0.555000	0.69702	GAG		0.438	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		60	18	0	0	0	1	0	60	18				
SPAG17	200162	broad.mit.edu	37	1	118624083	118624083	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:118624083G>C	ENST00000336338.5	-	14	2010	c.1945C>G	c.(1945-1947)Caa>Gaa	p.Q649E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	649						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATGACATATTGCTGCCTTATC	0.418																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(1945-1947)Caa>Gaa		sperm associated antigen 17							183.0	175.0	178.0					1																	118624083		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118624083G>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1945C>G	1.37:g.118624083G>C	ENSP00000337804:p.Gln649Glu						p.Q649E	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	14	2010	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	649					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.1945C>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287717	0.23478	.	.	ENSG00000155761	ENST00000336338	T	0.16743	2.32	5.12	-2.52	0.06346	.	0.707167	0.13038	N	0.418760	T	0.03827	0.0108	L	0.42245	1.32	0.09310	N	1	B	0.28933	0.228	B	0.27796	0.083	T	0.43343	-0.9397	10	0.09590	T	0.72	.	12.3991	0.55402	0.0:0.1069:0.239:0.6541	.	649	Q6Q759	SPG17_HUMAN	E	649	ENSP00000337804:Q649E	ENSP00000337804:Q649E	Q	-	1	0	SPAG17	118425606	0.017000	0.18338	0.001000	0.08648	0.222000	0.24845	0.425000	0.21346	-0.279000	0.09167	0.591000	0.81541	CAA		0.418	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		27	88	0	0	0	1	0	27	88				
ZNF790	388536	broad.mit.edu	37	19	37309378	37309378	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr19:37309378T>A	ENST00000356725.4	-	5	1988	c.1868A>T	c.(1867-1869)gAg>gTg	p.E623V	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	623					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAATGCTTTCTCAAAATCTTT	0.323																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(1867-1869)gAg>gTg		zinc finger protein 790							49.0	53.0	52.0					19																	37309378		2203	4299	6502	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37309378T>A	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1868A>T	19.37:g.37309378T>A	ENSP00000349161:p.Glu623Val					CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.E623V	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1988	-	Esophageal squamous(110;0.183)		623						Missense_Mutation	SNP	ENST00000356725.4	37	c.1868A>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970159	0.53614	.	.	ENSG00000197863	ENST00000356725	T	0.16196	2.36	3.18	-0.977	0.10282	.	.	.	.	.	T	0.12732	0.0309	L	0.43701	1.375	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.31943	-0.9925	9	0.87932	D	0	.	4.2942	0.10894	0.2106:0.5482:0.0:0.2412	.	623	Q6PG37	ZN790_HUMAN	V	623	ENSP00000349161:E623V	ENSP00000349161:E623V	E	-	2	0	ZNF790	42001218	0.000000	0.05858	0.000000	0.03702	0.283000	0.27025	0.050000	0.14120	-0.080000	0.12685	0.482000	0.46254	GAG		0.323	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		26	29	0	0	0	1	0	26	29				
KIAA1244	57221	broad.mit.edu	37	6	138607857	138607857	+	Silent	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:138607857T>C	ENST00000251691.4	+	16	2755	c.2589T>C	c.(2587-2589)taT>taC	p.Y863Y		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTGCTCGCTATATTCTGGTGG	0.493																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(2587-2589)taT>taC		KIAA1244							127.0	131.0	129.0					6																	138607857		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138607857T>C	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2589T>C	6.37:g.138607857T>C							p.Y863Y	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	16	2755	+	Breast(32;0.135)		863						Silent	SNP	ENST00000251691.4	37	c.2589T>C	CCDS5189.2																																																																																				0.493	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		61	26	0	0	0	1	0	61	26				
COL28A1	340267	broad.mit.edu	37	7	7413079	7413079	+	Missense_Mutation	SNP	A	A	G	rs375679131		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:7413079A>G	ENST00000399429.3	-	32	2598	c.2458T>C	c.(2458-2460)Ttt>Ctt	p.F820L		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	820	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GTCTTCACAAAATTTTTAATG	0.483																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(2458-2460)Ttt>Ctt		collagen, type XXVIII, alpha 1		A	LEU/PHE	0,3716		0,0,1858	86.0	87.0	87.0		2458	1.9	0.6	7		87	1,8197		0,1,4098	no	missense	COL28A1	NM_001037763.2	22	0,1,5956	GG,GA,AA		0.0122,0.0,0.0084	benign	820/1126	7413079	1,11913	1858	4099	5957	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7413079A>G	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2458T>C	7.37:g.7413079A>G	ENSP00000382356:p.Phe820Leu						p.F820L	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	32	2598	-		Ovarian(82;0.0789)	820			VWFA 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.2458T>C	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.752408	0.49362	0.0	1.22E-4	ENSG00000215018	ENST00000399429	D	0.86627	-2.15	4.44	1.93	0.25924	von Willebrand factor, type A (3);	0.079345	0.50627	U	0.000101	D	0.85204	0.5643	M	0.85859	2.78	0.45056	D	0.998077	B	0.15141	0.012	B	0.23574	0.047	T	0.73777	-0.3876	10	0.11794	T	0.64	-1.3333	8.5573	0.33489	0.8308:0.0:0.1692:0.0	.	820	Q2UY09	COSA1_HUMAN	L	820	ENSP00000382356:F820L	ENSP00000382356:F820L	F	-	1	0	COL28A1	7379604	1.000000	0.71417	0.572000	0.28498	0.924000	0.55760	5.956000	0.70315	0.289000	0.22422	0.533000	0.62120	TTT		0.483	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		52	83	0	0	0	1	0	52	83				
CLEC4F	165530	broad.mit.edu	37	2	71043145	71043145	+	Silent	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:71043145T>C	ENST00000272367.2	-	4	1444	c.1368A>G	c.(1366-1368)gaA>gaG	p.E456E	CLEC4F_ENST00000426626.1_Silent_p.E456E	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	456					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTTGTAGCTGTTCCTGTGAAG	0.507																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1366-1368)gaA>gaG		C-type lectin domain family 4, member F							132.0	122.0	126.0					2																	71043145		2203	4300	6503	SO:0001819	synonymous_variant	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043145T>C	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1368A>G	2.37:g.71043145T>C						CLEC4F_ENST00000426626.1_Silent_p.E456E	p.E456E	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			4	1444	-			456					A4QPA5	Silent	SNP	ENST00000272367.2	37	c.1368A>G	CCDS1910.1																																																																																				0.507	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		35	44	0	0	0	1	0	35	44				
PRKDC	5591	broad.mit.edu	37	8	48713402	48713402	+	Silent	SNP	A	A	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr8:48713402A>T	ENST00000314191.2	-	72	10121	c.10065T>A	c.(10063-10065)gcT>gcA	p.A3355A	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.A3355A	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3356	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGATTCTTCTAGCCTTGTCCT	0.463								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(10063-10065)gcT>gcA	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							79.0	73.0	75.0					8																	48713402		1897	4131	6028	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48713402A>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10065T>A	8.37:g.48713402A>T						PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.A3355A	p.A3355A	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			72	10121	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3356			FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.10065T>A																																																																																					0.463	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		11	13	0	0	0	1	0	11	13				
STOML2	30968	broad.mit.edu	37	9	35103079	35103079	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr9:35103079C>T	ENST00000356493.5	-	1	75	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	STOML2_ENST00000452248.2_Missense_Mutation_p.A5T|STOML2_ENST00000487490.1_5'Flank	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	5					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCCCGCGCCGCGCGCGCCAGC	0.642																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(13-15)Gcg>Acg		stomatin (EPB72)-like 2							29.0	36.0	34.0					9																	35103079		2201	4300	6501	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35103079C>T	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.13G>A	9.37:g.35103079C>T	ENSP00000348886:p.Ala5Thr					STOML2_ENST00000452248.2_Missense_Mutation_p.A5T	p.A5T	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		1	75	-			5					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.13G>A	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874076	0.72180	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.98221	-3.55;-4.8	5.41	4.52	0.55395	.	0.280796	0.34603	N	0.003828	D	0.92293	0.7555	N	0.08118	0	0.36675	D	0.878736	B;B	0.31519	0.327;0.142	B;B	0.19946	0.027;0.027	D	0.92377	0.5910	10	0.17832	T	0.49	-19.5561	11.5447	0.50685	0.1779:0.8221:0.0:0.0	.	5;5	B4E1K7;Q9UJZ1	.;STML2_HUMAN	T	5	ENSP00000348886:A5T;ENSP00000395743:A5T	ENSP00000348886:A5T	A	-	1	0	STOML2	35093079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.127000	0.31357	1.523000	0.49018	0.561000	0.74099	GCG		0.642	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		26	97	0	0	0	1	0	26	97				
ZNF175	7728	broad.mit.edu	37	19	52091225	52091225	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr19:52091225C>A	ENST00000262259.2	+	5	1999	c.1641C>A	c.(1639-1641)agC>agA	p.S547R	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	547					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CAATACTCAGCATGCATCAGA	0.423																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1639-1641)agC>agA		zinc finger protein 175							60.0	60.0	60.0					19																	52091225		2203	4300	6503	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52091225C>A	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1641C>A	19.37:g.52091225C>A	ENSP00000262259:p.Ser547Arg					ZNF175_ENST00000436511.2_Intron	p.S547R	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1999	+		all_neural(266;0.0299)	547					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.1641C>A	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	C	8.244	0.807463	0.16467	.	.	ENSG00000105497	ENST00000262259	T	0.15718	2.4	2.37	2.37	0.29283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06508	0.0167	N	0.04880	-0.145	0.09310	N	0.999998	P	0.39282	0.666	B	0.35813	0.211	T	0.19516	-1.0303	9	0.21014	T	0.42	.	5.0793	0.14647	0.0:0.8348:0.0:0.1652	.	547	Q9Y473	ZN175_HUMAN	R	547	ENSP00000262259:S547R	ENSP00000262259:S547R	S	+	3	2	ZNF175	56783037	0.000000	0.05858	0.994000	0.49952	0.997000	0.91878	-3.334000	0.00508	1.650000	0.50662	0.655000	0.94253	AGC		0.423	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		19	22	1	0	1.15919e-05	1	1.18439e-05	19	22				
RYR2	6262	broad.mit.edu	37	1	237780681	237780681	+	Silent	SNP	A	A	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:237780681A>G	ENST00000366574.2	+	38	6128	c.5811A>G	c.(5809-5811)caA>caG	p.Q1937Q	RYR2_ENST00000360064.6_Silent_p.Q1935Q|RYR2_ENST00000542537.1_Silent_p.Q1921Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1937	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTAAGCTCCAAGACAATCAAC	0.473																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5809-5811)caA>caG		ryanodine receptor 2 (cardiac)							97.0	88.0	91.0					1																	237780681		1972	4178	6150	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237780681A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5811A>G	1.37:g.237780681A>G						RYR2_ENST00000542537.1_Silent_p.Q1921Q|RYR2_ENST00000360064.6_Silent_p.Q1935Q	p.Q1937Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		38	6128	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1937			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.5811A>G	CCDS55691.1																																																																																				0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	40	0	0	0	1	0	13	40				
PCDHGB3	56102	broad.mit.edu	37	5	140751223	140751223	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:140751223C>T	ENST00000576222.1	+	1	1393	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	421	Cadherin 4. {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)			TACAATGTGACGATCACAGCT	0.498																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1261-1263)aCg>aTg									99.0	104.0	102.0					5																	140751223		2147	4260	6407	SO:0001583	missense	56102							g.chr5:140751223C>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.1262C>T	5.37:g.140751223C>T	ENSP00000461862:p.Thr421Met					PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.T421M	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	1393	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1262C>T	CCDS58980.1																																																																																				0.498	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		8	103	0	0	0	1	0	8	103				
POT1	25913	broad.mit.edu	37	7	124503531	124503531	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:124503531G>A	ENST00000357628.3	-	8	1017	c.419C>T	c.(418-420)gCa>gTa	p.A140V	POT1_ENST00000393329.1_Missense_Mutation_p.A9V	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	140					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ATGAGTAGATGCCCAAACACG	0.438																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(418-420)gCa>gTa		protection of telomeres 1							163.0	146.0	151.0					7																	124503531		2203	4300	6503	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124503531G>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.419C>T	7.37:g.124503531G>A	ENSP00000350249:p.Ala140Val					POT1_ENST00000393329.1_Missense_Mutation_p.A9V	p.A140V	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			8	1017	-			140					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.419C>T	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778767	0.90195	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.50813	0.73;0.77	5.44	5.44	0.79542	Nucleic acid-binding, OB-fold-like (1);Telomere end binding protein (2);Nucleic acid-binding, OB-fold (1);	0.238738	0.41500	D	0.000863	T	0.55273	0.1910	L	0.49455	1.56	0.58432	D	0.999994	P	0.49783	0.928	P	0.50659	0.647	T	0.54820	-0.8236	10	0.48119	T	0.1	-0.407	18.2686	0.90060	0.0:0.0:1.0:0.0	.	140	Q9NUX5	POTE1_HUMAN	V	140;9;140;140;140;139	ENSP00000350249:A140V;ENSP00000377002:A9V	ENSP00000265391:A139V	A	-	2	0	POT1	124290767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.825000	0.55730	2.543000	0.85770	0.650000	0.86243	GCA		0.438	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			39	52	0	0	0	1	0	39	52				
TDRD9	122402	broad.mit.edu	37	14	104470653	104470653	+	Missense_Mutation	SNP	A	A	G	rs148458755		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr14:104470653A>G	ENST00000409874.4	+	14	1610	c.1562A>G	c.(1561-1563)cAt>cGt	p.H521R	TDRD9_ENST00000339063.5_Missense_Mutation_p.H521R	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	521	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATCCCTGATCATGTTGTTCCT	0.393																																						ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(1561-1563)cAt>cGt		tudor domain containing 9		A	ARG/HIS	0,4406		0,0,2203	124.0	97.0	106.0		1562	2.0	0.1	14	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	TDRD9	NM_153046.2	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	521/1383	104470653	1,13005	2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104470653A>G	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1562A>G	14.37:g.104470653A>G	ENSP00000387303:p.His521Arg					TDRD9_ENST00000339063.5_Missense_Mutation_p.H521R	p.H521R	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN			14	1610	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	521			Helicase C-terminal.		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.1562A>G	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	A	9.912	1.209891	0.22289	0.0	1.16E-4	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.02525	4.26;4.26	5.87	2.03	0.26663	Helicase, C-terminal (1);	0.286267	0.27509	N	0.019050	T	0.01940	0.0061	L	0.33245	0.995	0.09310	N	0.999993	P;B	0.37688	0.605;0.103	B;B	0.31495	0.131;0.109	T	0.49031	-0.8981	10	0.23891	T	0.37	.	5.0422	0.14465	0.7122:0.0:0.1545:0.1333	.	521;521	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	R	521	ENSP00000387303:H521R;ENSP00000343545:H521R	ENSP00000343545:H521R	H	+	2	0	TDRD9	103540406	0.616000	0.27035	0.098000	0.21074	0.996000	0.88848	3.987000	0.56944	0.469000	0.27268	0.533000	0.62120	CAT		0.393	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		4	51	0	0	0	1	0	4	51				
APPL2	55198	broad.mit.edu	37	12	105601790	105601790	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr12:105601790C>T	ENST00000258530.3	-	7	658	c.433G>A	c.(433-435)Gca>Aca	p.A145T	APPL2_ENST00000551662.1_Missense_Mutation_p.A151T|APPL2_ENST00000539978.2_Missense_Mutation_p.A102T|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGTATTTTGCCATTGAGAGG	0.438																																						ENST00000258530.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(433-435)Gca>Aca		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							130.0	133.0	132.0					12																	105601790		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105601790C>T	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.433G>A	12.37:g.105601790C>T	ENSP00000258530:p.Ala145Thr					APPL2_ENST00000539978.2_Missense_Mutation_p.A102T|APPL2_ENST00000551662.1_Missense_Mutation_p.A151T|APPL2_ENST00000549573.1_5'UTR	p.A145T	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			7	658	-			145			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.433G>A	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928857	0.34002	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553097	T;T;T;T	0.04502	3.61;3.61;3.61;3.61	5.76	5.76	0.90799	.	0.051281	0.85682	D	0.000000	T	0.09024	0.0223	L	0.29908	0.895	0.58432	D	0.999996	D;P;P	0.55385	0.971;0.9;0.9	P;B;B	0.53035	0.716;0.438;0.416	T	0.46247	-0.9205	10	0.11794	T	0.64	-22.155	19.9729	0.97289	0.0:1.0:0.0:0.0	.	151;102;145	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	T	145;102;151;112	ENSP00000258530:A145T;ENSP00000444472:A102T;ENSP00000446917:A151T;ENSP00000449767:A112T	ENSP00000258530:A145T	A	-	1	0	APPL2	104125920	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	5.434000	0.66526	2.716000	0.92895	0.650000	0.86243	GCA		0.438	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		4	123	0	0	0	1	0	4	123				
RGS7	6000	broad.mit.edu	37	1	240939500	240939500	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:240939500G>T	ENST00000366565.1	-	18	1808	c.1427C>A	c.(1426-1428)aCg>aAg	p.T476K	RGS7_ENST00000366562.4_Missense_Mutation_p.T458K|RGS7_ENST00000446183.2_3'UTR|RGS7_ENST00000366563.1_3'UTR|RGS7_ENST00000348120.2_3'UTR|RGS7_ENST00000366564.1_Missense_Mutation_p.T458K|RGS7_ENST00000331110.7_Intron	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	0					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCTCTTGGACGTGAGAGATTT	0.383																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1426-1428)aCg>aAg		regulator of G-protein signaling 7							109.0	100.0	103.0					1																	240939500		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240939500G>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000366565.1:c.1427C>A	1.37:g.240939500G>T	ENSP00000355523:p.Thr476Lys					RGS7_ENST00000366563.1_3'UTR|RGS7_ENST00000446183.2_3'UTR|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000366562.4_Missense_Mutation_p.T458K|RGS7_ENST00000366564.1_Missense_Mutation_p.T458K|RGS7_ENST00000348120.2_3'UTR	p.T476K	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		18	1808	-		all_cancers(173;0.0131)	0					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000366565.1	37	c.1427C>A	CCDS31071.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530891	0.27387	.	.	ENSG00000182901	ENST00000366565;ENST00000366564;ENST00000366562	T;T;T	0.31247	1.5;1.63;1.63	5.35	5.35	0.76521	.	0.507404	0.20531	N	0.090513	T	0.14743	0.0356	.	.	.	0.80722	D	1	B;P	0.38767	0.0;0.646	B;B	0.32393	0.002;0.145	T	0.08513	-1.0718	9	0.02654	T	1	.	16.2199	0.82254	0.0:0.0:1.0:0.0	.	458;476	P49802-2;P49802-5	.;.	K	476;458;458	ENSP00000355523:T476K;ENSP00000355522:T458K;ENSP00000355520:T458K	ENSP00000355520:T458K	T	-	2	0	RGS7	239006123	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.394000	0.73223	2.521000	0.84997	0.484000	0.47621	ACG		0.383	RGS7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096719.3	NM_002924		18	63	1	0	1.00905e-13	1	1.14278e-13	18	63				
RELN	5649	broad.mit.edu	37	7	103180650	103180650	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:103180650G>A	ENST00000428762.1	-	44	7083	c.6924C>T	c.(6922-6924)atC>atT	p.I2308I	RELN_ENST00000424685.2_Silent_p.I2308I|RELN_ENST00000343529.5_Silent_p.I2308I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2308					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGACCTGATCGATAACCCAGG	0.488																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6922-6924)atC>atT		reelin							72.0	71.0	72.0					7																	103180650		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103180650G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6924C>T	7.37:g.103180650G>A						RELN_ENST00000343529.5_Silent_p.I2308I|RELN_ENST00000428762.1_Silent_p.I2308I	p.I2308I			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	44	7083	-			2308					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.6924C>T	CCDS47680.1																																																																																				0.488	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		5	58	0	0	0	1	0	5	58				
ZBTB6	10773	broad.mit.edu	37	9	125673511	125673511	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr9:125673511C>T	ENST00000373659.3	-	2	929	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	281					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(1)|large_intestine(2)|lung(1)|skin(1)	11						TAACTTCCTTCAGTATTCTCA	0.443																																						ENST00000373659.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						c.(841-843)Gaa>Aaa		zinc finger and BTB domain containing 6							98.0	87.0	91.0					9																	125673511		2203	4300	6503	SO:0001583	missense	10773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125673511C>T	X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.841G>A	9.37:g.125673511C>T	ENSP00000362763:p.Glu281Lys						p.E281K	NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN			2	929	-			281					A8K8N6	Missense_Mutation	SNP	ENST00000373659.3	37	c.841G>A	CCDS6846.1	.	.	.	.	.	.	.	.	.	.	C	6.730	0.503397	0.12822	.	.	ENSG00000186130	ENST00000373659	T	0.08807	3.05	5.87	4.98	0.66077	.	0.367901	0.30593	N	0.009297	T	0.07908	0.0198	L	0.44542	1.39	0.27943	N	0.937435	B	0.20780	0.048	B	0.20767	0.031	T	0.32161	-0.9917	10	0.06099	T	0.92	.	14.2167	0.65797	0.0:0.9289:0.0:0.0711	.	281	Q15916	ZBTB6_HUMAN	K	281	ENSP00000362763:E281K	ENSP00000362763:E281K	E	-	1	0	ZBTB6	124713332	0.996000	0.38824	0.911000	0.35937	0.989000	0.77384	2.822000	0.48073	1.631000	0.50456	0.655000	0.94253	GAA		0.443	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626		8	42	0	0	0	1	0	8	42				
DCTN1	1639	broad.mit.edu	37	2	74595945	74595945	+	Silent	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:74595945C>T	ENST00000361874.3	-	16	2081	c.1764G>A	c.(1762-1764)ctG>ctA	p.L588L	DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409240.1_Silent_p.L551L|DCTN1_ENST00000409438.1_Silent_p.L454L|DCTN1_ENST00000409567.3_Silent_p.L568L|DCTN1_ENST00000409868.1_Silent_p.L571L|DCTN1_ENST00000407639.2_Silent_p.L454L|DCTN1_ENST00000394003.3_Silent_p.L581L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	588					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGAAGGCTGTCAGCAGGGACA	0.562																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(1762-1764)ctG>ctA		dynactin 1							148.0	118.0	128.0					2																	74595945		2203	4300	6503	SO:0001819	synonymous_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74595945C>T		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1764G>A	2.37:g.74595945C>T						DCTN1_ENST00000409438.1_Silent_p.L454L|DCTN1_ENST00000409868.1_Silent_p.L571L|DCTN1_ENST00000407639.2_Silent_p.L454L|DCTN1_ENST00000409240.1_Silent_p.L551L|DCTN1_ENST00000394003.3_Silent_p.L581L|DCTN1_ENST00000409567.3_Silent_p.L568L	p.L588L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			16	2081	-			588					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.1764G>A	CCDS1939.1																																																																																				0.562	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		23	98	0	0	0	1	0	23	98				
GRM8	2918	broad.mit.edu	37	7	126086293	126086293	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:126086293C>T	ENST00000339582.2	-	10	3372	c.2564G>A	c.(2563-2565)aGc>aAc	p.S855N	GRM8_ENST00000358373.3_Missense_Mutation_p.S855N|GRM8_ENST00000444921.2_Missense_Mutation_p.S855N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	855					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGCCTTGAAGCTCCTCTTGCG	0.418										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2563-2565)aGc>aAc		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						160.0	146.0	151.0					7																	126086293		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126086293C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2564G>A	7.37:g.126086293C>T	ENSP00000344173:p.Ser855Asn	HNSCC(24;0.065)				GRM8_ENST00000358373.3_Missense_Mutation_p.S855N|GRM8_ENST00000444921.2_Missense_Mutation_p.S855N	p.S855N			O00222	GRM8_HUMAN			10	3372	-		Prostate(267;0.186)	855					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2564G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428253	0.83667	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89050	-2.38;-2.38;-2.46	5.93	5.93	0.95920	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93723	0.7994	M	0.72353	2.195	0.80722	D	1	D;P	0.67145	0.996;0.823	D;P	0.75484	0.986;0.536	D	0.90723	0.4636	10	0.20519	T	0.43	.	19.3421	0.94347	0.0:1.0:0.0:0.0	.	855;855	O00222-2;O00222	.;GRM8_HUMAN	N	855	ENSP00000344173:S855N;ENSP00000409790:S855N;ENSP00000351142:S855N	ENSP00000344173:S855N	S	-	2	0	GRM8	125873529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.971000	0.70440	2.826000	0.97356	0.655000	0.94253	AGC		0.418	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			4	89	0	0	0	1	0	4	89				
OR10J5	127385	broad.mit.edu	37	1	159505522	159505522	+	Silent	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:159505522G>T	ENST00000334857.2	-	1	320	c.276C>A	c.(274-276)atC>atA	p.I92I		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CTGCCAAGGAGATAGGTTGGT	0.443																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(274-276)atC>atA		olfactory receptor, family 10, subfamily J, member 5							137.0	118.0	124.0					1																	159505522		2203	4300	6503	SO:0001819	synonymous_variant	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505522G>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.276C>A	1.37:g.159505522G>T							p.I92I	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	320	-	all_hematologic(112;0.0429)		92					B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	c.276C>A	CCDS30910.1																																																																																				0.443	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		29	107	1	0	5.45727e-16	1	6.37246e-16	29	107				
SLC4A8	9498	broad.mit.edu	37	12	51863567	51863567	+	Missense_Mutation	SNP	C	C	T	rs374704511		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr12:51863567C>T	ENST00000453097.2	+	12	1736	c.1519C>T	c.(1519-1521)Cgc>Tgc	p.R507C	SLC4A8_ENST00000394856.1_Missense_Mutation_p.R454C|SLC4A8_ENST00000514353.3_Missense_Mutation_p.R454C|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000535225.2_Missense_Mutation_p.R454C|SLC4A8_ENST00000358657.3_Missense_Mutation_p.R534C	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.R454C(1)|p.R507C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CACTGAGGGACGCATAGTAAG	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22189	0.0		0.0	False		,,,				2504	0.0					ENST00000453097.2																			2	Substitution - Missense(2)	p.R454C(1)|p.R507C(1)	large_intestine(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(1519-1521)Cgc>Tgc		solute carrier family 4, sodium bicarbonate cotransporter, member 8		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	165.0	152.0	157.0		1519,1519	5.7	1.0	12		157	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC4A8	NM_001039960.1,NM_004858.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	507/1094,507/1045	51863567	1,13005	2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51863567C>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1519C>T	12.37:g.51863567C>T	ENSP00000405812:p.Arg507Cys					SLC4A8_ENST00000394856.1_Missense_Mutation_p.R454C|SLC4A8_ENST00000535225.2_Missense_Mutation_p.R454C|SLC4A8_ENST00000514353.3_Missense_Mutation_p.R454C|SLC4A8_ENST00000358657.3_Missense_Mutation_p.R534C|SLC4A8_ENST00000546663.1_3'UTR	p.R507C	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	12	1736	+			507						Missense_Mutation	SNP	ENST00000453097.2	37	c.1519C>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196508	0.79015	0.0	1.16E-4	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.69	5.69	0.88448	Bicarbonate transporter, C-terminal (1);	0.145309	0.64402	D	0.000004	D	0.89361	0.6693	M	0.86178	2.8	0.58432	D	0.999991	D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;0.995;1.0	D;P;D;D;D;D	0.70487	0.916;0.827;0.961;0.969;0.921;0.961	D	0.89528	0.3783	10	0.56958	D	0.05	.	18.9789	0.92748	0.0:1.0:0.0:0.0	.	454;534;454;507;507;507	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	C	454;534;507;454;507;454;454	ENSP00000441520:R454C;ENSP00000351483:R534C;ENSP00000405812:R507C;ENSP00000378325:R454C;ENSP00000442561:R454C	ENSP00000315789:R507C	R	+	1	0	SLC4A8	50149834	0.973000	0.33851	1.000000	0.80357	0.995000	0.86356	2.534000	0.45676	2.865000	0.98341	0.655000	0.94253	CGC		0.488	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		43	52	0	0	0	1	0	43	52				
KCNA2	3737	broad.mit.edu	37	1	111147389	111147389	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:111147389C>T	ENST00000485317.1	-	3	689	c.16G>A	c.(16-18)Gga>Aga	p.G6R	KCNA2_ENST00000440270.1_Missense_Mutation_p.G6R|KCNA2_ENST00000369770.3_Missense_Mutation_p.G6R|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.G6R			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	6					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	GCTGGGTCTCCGGTGGCCACT	0.612																																					Pancreas(18;568 735 10587 23710 36357)	ENST00000485317.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(16-18)Gga>Aga		potassium voltage-gated channel, shaker-related subfamily, member 2							74.0	78.0	77.0					1																	111147389		2201	4295	6496	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147389C>T	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.16G>A	1.37:g.111147389C>T	ENSP00000433109:p.Gly6Arg					KCNA2_ENST00000316361.4_Missense_Mutation_p.G6R|KCNA2_ENST00000369770.3_Missense_Mutation_p.G6R|KCNA2_ENST00000440270.1_Missense_Mutation_p.G6R|KCNA2_ENST00000525120.1_Intron	p.G6R			P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	3	689	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	6					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.16G>A	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518514	0.44763	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;D;D;D	0.96232	-1.29;-3.95;-3.95;-3.95	5.77	5.77	0.91146	.	0.229082	0.44285	D	0.000478	D	0.94889	0.8348	L	0.53249	1.67	0.58432	D	0.999999	P;P	0.47034	0.886;0.889	B;P	0.46825	0.246;0.528	D	0.93470	0.6818	10	0.30078	T	0.28	.	19.9983	0.97395	0.0:1.0:0.0:0.0	.	6;6	Q86XG6;P16389	.;KCNA2_HUMAN	R	6	ENSP00000358785:G6R;ENSP00000433109:G6R;ENSP00000415257:G6R;ENSP00000314520:G6R	ENSP00000314520:G6R	G	-	1	0	KCNA2	110948912	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.801000	0.62532	2.724000	0.93272	0.561000	0.74099	GGA		0.612	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		19	130	0	0	0	1	0	19	130				
PPP1R17	10842	broad.mit.edu	37	7	31746831	31746831	+	Silent	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:31746831C>G	ENST00000342032.3	+	5	1030	c.402C>G	c.(400-402)ctC>ctG	p.L134L	PPP1R17_ENST00000498609.1_3'UTR|PPP1R17_ENST00000409146.3_Silent_p.L83L	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	134					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										TGACATTGCTCAGGGACGAGA	0.423																																						ENST00000342032.3																			0											c.(400-402)ctC>ctG		protein phosphatase 1, regulatory subunit 17							130.0	114.0	119.0					7																	31746831		2203	4300	6503	SO:0001819	synonymous_variant	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31746831C>G	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.402C>G	7.37:g.31746831C>G						PPP1R17_ENST00000409146.3_Silent_p.L83L|PPP1R17_ENST00000498609.1_3'UTR	p.L134L	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			5	1030	+			134					B4DE58|Q9UDQ0	Silent	SNP	ENST00000342032.3	37	c.402C>G	CCDS5436.1																																																																																				0.423	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		15	22	0	0	0	1	0	15	22				
HLA-DPB1	3115	broad.mit.edu	37	6	33052779	33052779	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:33052779C>A	ENST00000418931.2	+	3	533	c.417C>A	c.(415-417)caC>caA	p.H139Q		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	139	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						TGCAGCACCACAACCTGCTTG	0.512																																						ENST00000418931.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						c.(415-417)caC>caA		major histocompatibility complex, class II, DP beta 1							83.0	100.0	94.0					6																	33052779		1510	2709	4219	SO:0001583	missense	3115				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex		g.chr6:33052779C>A		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.417C>A	6.37:g.33052779C>A	ENSP00000408146:p.His139Gln						p.H139Q	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN			3	533	+			139			Beta-2.|Ig-like C1-type.		A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	ENST00000418931.2	37	c.417C>A	CCDS4765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.12|16.12	3.032676|3.032676	0.54790|0.54790	.|.	.|.	ENSG00000223865|ENSG00000223865	ENST00000418931;ENST00000428835|ENST00000416804	T;T|.	0.02631|.	4.22;4.22|.	3.85|3.85	0.841|0.841	0.18918|0.18918	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);|.	0.568311|.	0.18060|.	N|.	0.152990|.	T|T	0.30541|0.30541	0.0768|0.0768	L|L	0.54965|0.54965	1.715|1.715	0.47214|0.47214	D|D	0.999353|0.999353	D;D;D|.	0.61697|.	0.971;0.99;0.99|.	P;P;P|.	0.61800|.	0.864;0.894;0.828|.	T|T	0.24297|0.24297	-1.0164|-1.0164	10|5	0.87932|.	D|.	0|.	.|.	1.9191|1.9191	0.03303|0.03303	0.3547:0.3634:0.1738:0.1082|0.3547:0.3634:0.1738:0.1082	.|.	105;149;139|.	A2ALJ6;Q59GY1;P04440|.	.;.;DPB1_HUMAN|.	Q|K	139;116|106	ENSP00000408146:H139Q;ENSP00000412654:H116Q|.	ENSP00000408146:H139Q|.	H|T	+|+	3|2	2|0	HLA-DPB1|HLA-DPB1	33160757|33160757	0.000000|0.000000	0.05858|0.05858	0.024000|0.024000	0.17045|0.17045	0.911000|0.911000	0.54048|0.54048	-0.093000|-0.093000	0.11111|0.11111	0.036000|0.036000	0.15547|0.15547	0.544000|0.544000	0.68410|0.68410	CAC|ACA		0.512	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		14	80	1	0	3.52763e-06	1	3.62402e-06	14	80				
RXRB	6257	broad.mit.edu	37	6	33165642	33165642	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:33165642G>A	ENST00000374680.3	-	4	928	c.717C>T	c.(715-717)taC>taT	p.Y239Y	SLC39A7_ENST00000374675.3_5'Flank|RXRB_ENST00000413614.2_Silent_p.Y143Y|RXRB_ENST00000544186.1_Silent_p.Y49Y|RXRB_ENST00000374685.4_Silent_p.Y239Y|RNY4P10_ENST00000365571.1_RNA	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	239					cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCCGGCAAGAGTATGTAAGGT	0.552																																						ENST00000374680.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15						c.(715-717)taC>taT		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						87.0	71.0	76.0					6																	33165642		1511	2709	4220	SO:0001819	synonymous_variant	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33165642G>A	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.717C>T	6.37:g.33165642G>A						RXRB_ENST00000374685.4_Silent_p.Y239Y|RXRB_ENST00000413614.2_Silent_p.Y143Y|RXRB_ENST00000544186.1_Silent_p.Y49Y	p.Y239Y	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN			4	928	-			239					P28703|Q59G65|Q5JP92|Q5STQ1	Silent	SNP	ENST00000374680.3	37	c.717C>T	CCDS4768.1																																																																																				0.552	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		15	48	0	0	0	1	0	15	48				
TNFRSF1A	7132	broad.mit.edu	37	12	6443336	6443336	+	Silent	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr12:6443336C>T	ENST00000162749.2	-	2	413	c.114G>A	c.(112-114)gaG>gaA	p.E38E	TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000540022.1_Silent_p.E38E|TNFRSF1A_ENST00000366159.4_Silent_p.E38E	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	38					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TATCTCTCTTCTCCCTGTCCC	0.502																																						ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(112-114)gaG>gaA		tumor necrosis factor receptor superfamily, member 1A							144.0	142.0	143.0					12																	6443336		2203	4300	6503	SO:0001819	synonymous_variant	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6443336C>T	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.114G>A	12.37:g.6443336C>T						TNFRSF1A_ENST00000366159.4_Silent_p.E38E|TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000540022.1_Silent_p.E38E	p.E38E	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			2	413	-			38					A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Silent	SNP	ENST00000162749.2	37	c.114G>A	CCDS8542.1																																																																																				0.502	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		55	58	0	0	0	1	0	55	58				
HNRNPUL2	221092	broad.mit.edu	37	11	62490338	62490338	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:62490338T>C	ENST00000301785.5	-	5	1121	c.929A>G	c.(928-930)gAg>gGg	p.E310G	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E310G	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	310	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAGAGAGACCTCTGTGCAGCC	0.428																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(928-930)gAg>gGg		heterogeneous nuclear ribonucleoprotein U-like 2							96.0	95.0	95.0					11																	62490338		1864	4099	5963	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62490338T>C		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.929A>G	11.37:g.62490338T>C	ENSP00000301785:p.Glu310Gly					RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E310G	p.E310G	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			5	1121	-			310			B30.2/SPRY.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.929A>G	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336362	0.81801	.	.	ENSG00000214753	ENST00000301785	T	0.70749	-0.51	5.25	5.25	0.73442	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.189918	0.43260	D	0.000588	T	0.71904	0.3395	L	0.53249	1.67	0.50467	D	0.999879	B	0.29909	0.261	B	0.40375	0.327	T	0.73017	-0.4115	10	0.56958	D	0.05	-19.7272	13.1683	0.59583	0.0:0.0:0.0:1.0	.	310	Q1KMD3	HNRL2_HUMAN	G	310	ENSP00000301785:E310G	ENSP00000301785:E310G	E	-	2	0	HNRNPUL2	62246914	0.940000	0.31905	0.998000	0.56505	0.744000	0.42396	1.999000	0.40806	2.204000	0.70986	0.528000	0.53228	GAG		0.428	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		19	29	0	0	0	1	0	19	29				
KANSL1L	151050	broad.mit.edu	37	2	210905062	210905062	+	Intron	SNP	T	T	G	rs553845693		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:210905062T>G	ENST00000281772.9	-	8	2293				KANSL1L_ENST00000457374.1_Missense_Mutation_p.K704T|KANSL1L_ENST00000452086.1_Missense_Mutation_p.K704T|KANSL1L_ENST00000418791.1_Intron|AC007038.7_ENST00000452057.1_RNA	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like							histone acetyltransferase complex (GO:0000123)											ttctTAGATTTTATTTTTCTT	0.264																																						ENST00000452086.1																			0											c.(2110-2112)aAa>aCa		KAT8 regulatory NSL complex subunit 1-like																																				SO:0001627	intron_variant	151050							g.chr2:210905062T>G	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2029+81A>C	2.37:g.210905062T>G						KANSL1L_ENST00000418791.1_Intron|KANSL1L_ENST00000457374.1_Missense_Mutation_p.K704T|KANSL1L_ENST00000281772.9_Intron|AC007038.7_ENST00000452057.1_RNA	p.K704T			A0AUZ9	CB067_HUMAN			8	2318	-			0					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.2111A>C	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	T	3.167	-0.170752	0.06421	.	.	ENSG00000144445	ENST00000457374;ENST00000452086	.	.	.	4.3	3.05	0.35203	.	.	.	.	.	T	0.50735	0.1633	.	.	.	0.21416	N	0.999698	D	0.54964	0.969	P	0.57468	0.821	T	0.35599	-0.9782	7	0.87932	D	0	.	6.6219	0.22808	0.2123:0.0:0.0:0.7877	.	704	A0AUZ9-3	.	T	704	.	ENSP00000401408:K704T	K	-	2	0	C2orf67	210613307	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	1.396000	0.34531	1.958000	0.56883	0.383000	0.25322	AAA		0.264	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		9	7	0	0	0	1	0	9	7				
CAMK1D	57118	broad.mit.edu	37	10	12870861	12870861	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr10:12870861C>T	ENST00000378847.3	+	11	1470	c.1133C>T	c.(1132-1134)aCg>aTg	p.T378M		NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	378					inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.T378M(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ACCACTGTGACGGCAGTGCAC	0.667																																						ENST00000378847.3																			1	Substitution - Missense(1)	p.T378M(1)	breast(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(1132-1134)aCg>aTg		calcium/calmodulin-dependent protein kinase ID							43.0	41.0	41.0					10																	12870861		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12870861C>T	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.1133C>T	10.37:g.12870861C>T	ENSP00000368124:p.Thr378Met						p.T378M	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	11	1470	+			378					B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.1133C>T	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790472	0.70337	.	.	ENSG00000183049	ENST00000378847	T	0.69435	-0.4	5.7	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	L	0.29908	0.895	0.80722	D	1	D	0.54047	0.964	B	0.41299	0.353	T	0.58375	-0.7647	10	0.46703	T	0.11	-7.4814	14.1087	0.65109	0.0:0.8498:0.1502:0.0	.	378	Q8IU85	KCC1D_HUMAN	M	378	ENSP00000368124:T378M	ENSP00000368124:T378M	T	+	2	0	CAMK1D	12910867	1.000000	0.71417	0.922000	0.36590	0.980000	0.70556	5.673000	0.68109	1.389000	0.46526	0.561000	0.74099	ACG		0.667	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		18	9	0	0	0	1	0	18	9				
PCDHB16	57717	broad.mit.edu	37	5	140562743	140562743	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:140562743G>T	ENST00000361016.2	+	1	1764	c.609G>T	c.(607-609)gaG>gaT	p.E203D		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	203	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATCGGGAGGAGGAGCCTC	0.498																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(607-609)gaG>gaT									63.0	64.0	64.0					5																	140562743		2203	4300	6503	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140562743G>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.609G>T	5.37:g.140562743G>T	ENSP00000354293:p.Glu203Asp						p.E203D	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1764	+			203			Cadherin 2.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.609G>T	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961339	0.53400	.	.	ENSG00000196963	ENST00000361016	T	0.72394	-0.65	4.69	1.77	0.24775	Cadherin (4);Cadherin-like (1);	0.000000	0.34828	N	0.003658	D	0.87605	0.6219	H	0.97758	4.07	0.29703	N	0.840032	D	0.89917	1.0	D	0.97110	1.0	T	0.82944	-0.0206	10	0.87932	D	0	.	9.0478	0.36358	0.2552:0.0:0.7448:0.0	.	203	Q9NRJ7	PCDBG_HUMAN	D	203	ENSP00000354293:E203D	ENSP00000354293:E203D	E	+	3	2	PCDHB16	140542927	0.005000	0.15991	0.535000	0.28026	0.520000	0.34377	-0.129000	0.10515	0.036000	0.15547	-0.345000	0.07892	GAG		0.498	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		19	41	1	0	1.33834e-09	1	1.43776e-09	19	41				
NOTCH1	4851	broad.mit.edu	37	9	139412381	139412381	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr9:139412381G>T	ENST00000277541.6	-	8	1339	c.1264C>A	c.(1264-1266)Ccc>Acc	p.P422T	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	422	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P422S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCTCGCAGGGGTTGGCACCT	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.P422S(2)	upper_aerodigestive_tract(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1264-1266)Ccc>Acc		notch 1							31.0	35.0	34.0					9																	139412381		2190	4285	6475	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412381G>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1264C>A	9.37:g.139412381G>T	ENSP00000277541:p.Pro422Thr	HNSCC(8;0.001)					p.P422T	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1339	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	422			EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1264C>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350680	0.82132	.	.	ENSG00000148400	ENST00000277541	D	0.96073	-3.9	4.69	4.69	0.59074	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97210	0.9088	M	0.74389	2.26	0.80722	D	1	P	0.50710	0.938	D	0.64237	0.923	D	0.97637	1.0146	10	0.56958	D	0.05	.	16.5828	0.84718	0.0:0.0:1.0:0.0	.	422	P46531	NOTC1_HUMAN	T	422	ENSP00000277541:P422T	ENSP00000277541:P422T	P	-	1	0	NOTCH1	138532202	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.635000	0.98437	2.161000	0.67846	0.462000	0.41574	CCC		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		19	10	1	0	6.33239e-15	1	7.30361e-15	19	10				
ASH1L	55870	broad.mit.edu	37	1	155447732	155447732	+	Silent	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:155447732C>A	ENST00000368346.3	-	3	5568	c.4929G>T	c.(4927-4929)cgG>cgT	p.R1643R	ASH1L_ENST00000392403.3_Silent_p.R1643R			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1643	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCTGTGAAGCCGATTTAGTG	0.443																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(4927-4929)cgG>cgT		ash1 (absent, small, or homeotic)-like (Drosophila)							73.0	77.0	76.0					1																	155447732		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155447732C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4929G>T	1.37:g.155447732C>A						ASH1L_ENST00000392403.3_Silent_p.R1643R	p.R1643R			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	5568	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1643			Ser-rich.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.4929G>T																																																																																					0.443	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		81	71	1	0	5.29152e-50	1	6.41811e-50	81	71				
ASPSCR1	79058	broad.mit.edu	37	17	79954550	79954550	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr17:79954550G>T	ENST00000306739.4	+	7	858	c.761G>T	c.(760-762)gGc>gTc	p.G254V	ASPSCR1_ENST00000580534.1_Missense_Mutation_p.G177V|ASPSCR1_ENST00000306729.7_Missense_Mutation_p.G254V	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	254					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGACTGGGGGGCCCTCCTGGG	0.632			T	TFE3	alveolar soft part sarcoma																																	ENST00000306729.7				Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.(760-762)gGc>gTc		alveolar soft part sarcoma chromosome region, candidate 1							29.0	35.0	33.0					17																	79954550		2201	4296	6497	SO:0001583	missense	79058						protein binding	g.chr17:79954550G>T	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.761G>T	17.37:g.79954550G>T	ENSP00000302176:p.Gly254Val					ASPSCR1_ENST00000580534.1_Missense_Mutation_p.G177V|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.G254V	p.G254V	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		7	858	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		254					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	c.761G>T	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	G	7.520	0.656451	0.14580	.	.	ENSG00000169696	ENST00000306739;ENST00000306729;ENST00000344865	T;T	0.19250	2.16;2.16	4.93	4.93	0.64822	.	0.057657	0.64402	D	0.000002	T	0.43853	0.1266	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.993;0.984;0.993	T	0.31696	-0.9934	10	0.54805	T	0.06	-34.296	10.8923	0.47002	0.089:0.0:0.911:0.0	.	177;254;254;177	Q9BZE9-3;Q9BZE9-2;Q9BZE9;C9JAL9	.;.;ASPC1_HUMAN;.	V	254;254;177	ENSP00000302176:G254V;ENSP00000306625:G254V	ENSP00000306625:G254V	G	+	2	0	ASPSCR1	77547839	0.991000	0.36638	1.000000	0.80357	0.184000	0.23303	2.229000	0.42990	2.554000	0.86153	0.561000	0.74099	GGC		0.632	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		52	18	1	0	1.46357e-32	1	1.76379e-32	52	18				
FRMPD1	22844	broad.mit.edu	37	9	37740302	37740302	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr9:37740302G>A	ENST00000539465.1	+	15	2370	c.1777G>A	c.(1777-1779)Gcc>Acc	p.A593T	FRMPD1_ENST00000536622.1_Missense_Mutation_p.A415T|FRMPD1_ENST00000541302.1_Missense_Mutation_p.A462T|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.A593T			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	593						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GTCCGACTCAGCCAACACTGA	0.647																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(1777-1779)Gcc>Acc		FERM and PDZ domain containing 1							34.0	36.0	36.0					9																	37740302		2203	4296	6499	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740302G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1777G>A	9.37:g.37740302G>A	ENSP00000444411:p.Ala593Thr					FRMPD1_ENST00000377765.3_Missense_Mutation_p.A593T|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.A462T|FRMPD1_ENST00000536622.1_Missense_Mutation_p.A415T	p.A593T			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	2370	+			593					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.1777G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582880	0.86748	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.19669	3.07;3.07;2.13;2.14	5.81	5.81	0.92471	.	0.183574	0.49305	D	0.000157	T	0.29256	0.0728	L	0.59436	1.845	0.37740	D	0.925578	P;D	0.53151	0.915;0.958	B;P	0.45343	0.397;0.477	T	0.06734	-1.0810	10	0.46703	T	0.11	-18.4575	17.5649	0.87917	0.0:0.0:1.0:0.0	.	462;593	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	T	593;593;415;462	ENSP00000366995:A593T;ENSP00000444411:A593T;ENSP00000437762:A415T;ENSP00000444804:A462T	ENSP00000366995:A593T	A	+	1	0	FRMPD1	37730302	1.000000	0.71417	0.975000	0.42487	0.987000	0.75469	6.294000	0.72738	2.754000	0.94517	0.561000	0.74099	GCC		0.647	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		22	123	0	0	0	1	0	22	123				
NLRC5	84166	broad.mit.edu	37	16	57111704	57111704	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr16:57111704G>A	ENST00000262510.6	+	42	5218	c.4993G>A	c.(4993-4995)Gag>Aag	p.E1665K	NLRC5_ENST00000308149.7_Missense_Mutation_p.E1636K|NLRC5_ENST00000539144.1_Missense_Mutation_p.E1636K|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1665					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGGCGCCTGGAGGAGTTGAT	0.667																																						ENST00000262510.6																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(4993-4995)Gag>Aag		NLR family, CARD domain containing 5							96.0	98.0	97.0					16																	57111704		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57111704G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4993G>A	16.37:g.57111704G>A	ENSP00000262510:p.Glu1665Lys					NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.E1636K|NLRC5_ENST00000308149.7_Missense_Mutation_p.E1636K	p.E1665K	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN			42	5218	+		all_neural(199;0.225)	1665					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.4993G>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094744	0.56075	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.52057	0.68;0.68;0.68	4.82	4.82	0.62117	.	0.000000	0.35040	N	0.003496	T	0.48909	0.1526	L	0.28776	0.89	0.80722	D	1	D	0.54601	0.967	D	0.63877	0.919	T	0.30357	-0.9981	10	0.06891	T	0.86	.	13.2558	0.60079	0.0:0.0:1.0:0.0	.	1665	Q86WI3	NLRC5_HUMAN	K	1665;1636;1636	ENSP00000262510:E1665K;ENSP00000308886:E1636K;ENSP00000441727:E1636K	ENSP00000262510:E1665K	E	+	1	0	NLRC5	55669205	0.999000	0.42202	1.000000	0.80357	0.374000	0.29953	3.292000	0.51772	2.509000	0.84616	0.561000	0.74099	GAG		0.667	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		24	14	0	0	0	1	0	24	14				
RAVER1	125950	broad.mit.edu	37	19	10434205	10434205	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr19:10434205G>A	ENST00000293677.6	-	4	926	c.845C>T	c.(844-846)gCg>gTg	p.A282V	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	265	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CTCCAGCACCGCGAAGCCCTT	0.682																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(844-846)gCg>gTg		ribonucleoprotein, PTB-binding 1							30.0	35.0	33.0					19																	10434205		2179	4274	6453	SO:0001583	missense	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10434205G>A		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.845C>T	19.37:g.10434205G>A	ENSP00000293677:p.Ala282Val						p.A282V	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		4	926	-			265			RRM 3.		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	c.845C>T	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162883	0.78226	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.28666	1.6	4.74	4.74	0.60224	.	0.135369	0.47455	D	0.000232	T	0.47414	0.1444	M	0.66297	2.02	0.52501	D	0.999954	D	0.71674	0.998	P	0.55577	0.779	T	0.52953	-0.8506	10	0.87932	D	0	-13.7405	15.2162	0.73267	0.0:0.0:1.0:0.0	.	282	E9PAU2	.	V	282;265	ENSP00000293677:A282V	ENSP00000293677:A282V	A	-	2	0	RAVER1	10295205	1.000000	0.71417	0.916000	0.36221	0.513000	0.34164	9.305000	0.96197	2.199000	0.70637	0.511000	0.50034	GCG		0.682	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		21	30	0	0	0	1	0	21	30				
GALNT18	374378	broad.mit.edu	37	11	11454266	11454266	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:11454266G>A	ENST00000227756.4	-	3	908	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	166	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CACTGAAAGCGCTTCATTGAC	0.537																																						ENST00000227756.4																			0											c.(496-498)gCg>gTg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							107.0	89.0	95.0					11																	11454266		2201	4294	6495	SO:0001583	missense	374378							g.chr11:11454266G>A	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.497C>T	11.37:g.11454266G>A	ENSP00000227756:p.Ala166Val						p.A166V	NM_198516.2	NP_940918.2					3	908	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.497C>T	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495090	0.64186	.	.	ENSG00000110328	ENST00000227756	T	0.62105	0.05	5.78	5.78	0.91487	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.81583	0.4853	M	0.88570	2.965	0.58432	D	0.999999	D	0.69078	0.997	P	0.61800	0.894	D	0.84745	0.0753	10	0.87932	D	0	.	18.5629	0.91107	0.0:0.0:1.0:0.0	.	166	Q6P9A2	GLTL4_HUMAN	V	166	ENSP00000227756:A166V	ENSP00000227756:A166V	A	-	2	0	GALNTL4	11410842	1.000000	0.71417	0.384000	0.26145	0.027000	0.11550	7.876000	0.87215	2.724000	0.93272	0.655000	0.94253	GCG		0.537	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		19	7	0	0	0	1	0	19	7				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	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)																																																154754							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		3	27	0	0	0	1	0	3	27				
DCP1B	196513	broad.mit.edu	37	12	2113555	2113555	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr12:2113555C>G	ENST00000280665.6	-	1	122	c.43G>C	c.(43-45)Gac>Cac	p.D15H	RP5-1096D14.6_ENST00000354425.4_RNA|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	15					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGGCTGATGTCGCGCCCCTTT	0.652																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(43-45)Gac>Cac		decapping mRNA 1B							42.0	35.0	37.0					12																	2113555		2203	4298	6501	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2113555C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.43G>C	12.37:g.2113555C>G	ENSP00000280665:p.Asp15His					DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_5'UTR	p.D15H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		1	122	-			15					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.43G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266326	0.95399	.	.	ENSG00000151065	ENST00000280665;ENST00000541700;ENST00000535873	T	0.21361	2.01	5.31	5.31	0.75309	.	0.094597	0.64402	D	0.000001	T	0.45196	0.1330	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.37384	-0.9708	10	0.72032	D	0.01	-20.6902	17.974	0.89121	0.0:1.0:0.0:0.0	.	15;15	B4DVJ6;Q8IZD4	.;DCP1B_HUMAN	H	15	ENSP00000280665:D15H	ENSP00000280665:D15H	D	-	1	0	DCP1B	1983816	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.937000	0.75898	2.467000	0.83353	0.655000	0.94253	GAC		0.652	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		16	29	0	0	0	1	0	16	29				
PTGIR	5739	broad.mit.edu	37	19	47127071	47127071	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr19:47127071G>T	ENST00000291294.2	-	2	545	c.412C>A	c.(412-414)Ctg>Atg	p.L138M	PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.L138M	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	138					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	GGCAGCGCCAGGCGGGCGCAG	0.701																																						ENST00000291294.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13						c.(412-414)Ctg>Atg		prostaglandin I2 (prostacyclin) receptor (IP)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)						9.0	10.0	10.0					19																	47127071		2036	4017	6053	SO:0001583	missense	5739				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	g.chr19:47127071G>T		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"""GPCR / Class A : Prostanoid receptors"""	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.412C>A	19.37:g.47127071G>T	ENSP00000291294:p.Leu138Met					PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.L138M|PTGIR_ENST00000594275.1_Intron	p.L138M	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	2	545	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	138						Missense_Mutation	SNP	ENST00000291294.2	37	c.412C>A	CCDS12686.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222632	0.39300	.	.	ENSG00000160013	ENST00000291294	T	0.73897	-0.79	4.85	1.39	0.22231	GPCR, rhodopsin-like superfamily (1);	0.862184	0.09978	N	0.731341	T	0.64757	0.2627	L	0.42581	1.335	0.09310	N	1	P	0.41848	0.763	B	0.43194	0.411	T	0.52245	-0.8601	10	0.32370	T	0.25	-12.022	3.2471	0.06801	0.0949:0.3276:0.4095:0.168	.	138	P43119	PI2R_HUMAN	M	138	ENSP00000291294:L138M	ENSP00000291294:L138M	L	-	1	2	PTGIR	51818911	0.444000	0.25649	0.911000	0.35937	0.947000	0.59692	0.534000	0.23098	0.194000	0.20326	0.563000	0.77884	CTG		0.701	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			11	11	1	0	3.07112e-06	1	3.18989e-06	11	11				
MUC2	4583	broad.mit.edu	37	11	1093367	1093367	+	Missense_Mutation	SNP	C	C	T	rs374236346		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:1093367C>T	ENST00000441003.2	+	30	5213	c.5186C>T	c.(5185-5187)aCg>aTg	p.T1729M	MUC2_ENST00000359061.5_Missense_Mutation_p.T1696M|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.T17M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T1696M(1)|p.T1729M(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	accaccactacggtgacccca	0.647																																						ENST00000441003.2																			2	Substitution - Missense(2)	p.T1696M(1)|p.T1729M(1)	endometrium(2)	NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(5185-5187)aCg>aTg		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)	C	MET/THR	11,3919		0,11,1954	177.0	223.0	208.0		5183	1.2	0.0	11		208	0,7640		0,0,3820	no	missense	MUC2	NM_002457.2	81	0,11,5774	TT,TC,CC		0.0,0.2799,0.0951	probably-damaging	1728/2813	1093367	11,11559	1965	3820	5785	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093367C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5186C>T	11.37:g.1093367C>T	ENSP00000415183:p.Thr1729Met					MUC2_ENST00000359061.5_Missense_Mutation_p.T1696M|MUC2_ENST00000333592.6_Missense_Mutation_p.T17M|MUC2_ENST00000361558.6_Intron	p.T1729M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	30	5213	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1720			Approximate repeats.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.5186C>T		.	.	.	.	.	.	.	.	.	.	C	10.26	1.301494	0.23736	0.002799	0.0	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.12774	2.65;2.66;2.78	1.23	1.23	0.21249	.	0.398027	0.16424	U	0.215060	T	0.07369	0.0186	.	.	.	0.09310	N	1	D	0.54772	0.968	B	0.31812	0.136	T	0.31280	-0.9949	9	0.72032	D	0.01	.	7.8999	0.29729	0.0:1.0:0.0:0.0	.	1729	E7EUV1	.	M	1729;1696;17	ENSP00000415183:T1729M;ENSP00000351956:T1696M;ENSP00000331373:T17M	ENSP00000331373:T17M	T	+	2	0	MUC2	1083367	0.020000	0.18652	0.007000	0.13788	0.009000	0.06853	2.945000	0.49043	0.615000	0.30124	0.195000	0.17529	ACG		0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		2	0	0	0	0	1	0	2	0				
TSSC2	650368	broad.mit.edu	37	11	3426096	3426096	+	RNA	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:3426096C>T	ENST00000529482.1	+	0	845									tumor suppressing subtransferable candidate 2 pseudogene																		AAAGGGCCTCCGAGGGAGTAT	0.602																																						ENST00000529482.1																			0																																																			650368							g.chr11:3426096C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3426096C>T														0	845	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	46	0	0	0	1	0	3	46				
OR2D3	120775	broad.mit.edu	37	11	6942440	6942440	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:6942440C>T	ENST00000317834.3	+	1	236	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTGGATTCTCGCCTTCACAC	0.428																																						ENST00000317834.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27						c.(208-210)Cgc>Tgc		olfactory receptor, family 2, subfamily D, member 3							133.0	128.0	130.0					11																	6942440		2201	4296	6497	SO:0001583	missense	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6942440C>T	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.208C>T	11.37:g.6942440C>T	ENSP00000320560:p.Arg70Cys						p.R70C	NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	236	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	70					B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	c.208C>T	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480937	0.26598	.	.	ENSG00000178358	ENST00000317834	T	0.00588	6.37	5.07	-3.95	0.04118	GPCR, rhodopsin-like superfamily (1);	1.163250	0.06667	N	0.765561	T	0.00875	0.0029	M	0.64567	1.98	0.09310	N	1	B	0.13145	0.007	B	0.17098	0.017	T	0.36553	-0.9743	10	0.54805	T	0.06	-0.4064	12.2848	0.54786	0.7483:0.183:0.0:0.0687	.	70	Q8NGH3	OR2D3_HUMAN	C	70	ENSP00000320560:R70C	ENSP00000320560:R70C	R	+	1	0	OR2D3	6899016	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.093000	0.03362	-0.805000	0.04404	-0.899000	0.02877	CGC		0.428	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		31	21	0	0	0	1	0	31	21				
C3orf58	205428	broad.mit.edu	37	3	143708593	143708593	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:143708593G>A	ENST00000315691.3	+	3	1738	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Silent_p.E192E|C3orf58_ENST00000441925.2_Silent_p.E163E	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	401					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCTGGATGAGTGTGCCAACC	0.507																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1201-1203)gaG>gaA		chromosome 3 open reading frame 58							85.0	87.0	86.0					3																	143708593		2203	4300	6503	SO:0001819	synonymous_variant	205428					COPI vesicle coat|extracellular region		g.chr3:143708593G>A	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.1203G>A	3.37:g.143708593G>A						C3orf58_ENST00000441925.2_Silent_p.E163E|C3orf58_ENST00000495414.1_Silent_p.E192E|C3orf58_ENST00000493396.1_Intron	p.E401E	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			3	1738	+			401					B2RCF2|B7Z1W3	Silent	SNP	ENST00000315691.3	37	c.1203G>A	CCDS3130.1																																																																																				0.507	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		16	61	0	0	0	1	0	16	61				
ATP13A4	84239	broad.mit.edu	37	3	193128809	193128809	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:193128809G>C	ENST00000342695.4	-	28	3581	c.3259C>G	c.(3259-3261)Cta>Gta	p.L1087V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.L1068V|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000400270.2_Missense_Mutation_p.L103V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1087						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCAGCAAATAGAATGAATAGA	0.299																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(3259-3261)Cta>Gta		ATPase type 13A4							102.0	105.0	104.0					3																	193128809		2203	4291	6494	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193128809G>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3259C>G	3.37:g.193128809G>C	ENSP00000339182:p.Leu1087Val					ATP13A4_ENST00000392443.3_Missense_Mutation_p.L1068V|ATP13A4_ENST00000400270.2_Missense_Mutation_p.L103V|ATP13A4_ENST00000482964.1_5'UTR	p.L1087V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	28	3581	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		1087					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.3259C>G	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252021	0.39797	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;T;T	0.70045	-0.45;-0.45;-0.45	4.71	4.71	0.59529	.	0.136740	0.32204	N	0.006438	T	0.52273	0.1724	L	0.28400	0.85	0.80722	D	1	B	0.29085	0.232	B	0.31686	0.134	T	0.50276	-0.8847	10	0.30854	T	0.27	-12.7202	9.2261	0.37407	0.0996:0.0:0.9004:0.0	.	1087	Q4VNC1	AT134_HUMAN	V	103;1068;1087	ENSP00000383129:L103V;ENSP00000376238:L1068V;ENSP00000339182:L1087V	ENSP00000339182:L1087V	L	-	1	2	ATP13A4	194611503	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.959000	0.40412	2.317000	0.78254	0.561000	0.74099	CTA		0.299	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		24	164	0	0	0	1	0	24	164				
HIF1A	3091	broad.mit.edu	37	14	62199180	62199180	+	Missense_Mutation	SNP	G	G	A	rs61755644		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr14:62199180G>A	ENST00000337138.4	+	7	1083	c.818G>A	c.(817-819)cGc>cAc	p.R273H	HIF1A_ENST00000557538.1_Missense_Mutation_p.R214H|HIF1A_ENST00000323441.6_Missense_Mutation_p.R273H|HIF1A_ENST00000539097.1_Missense_Mutation_p.R297H|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000394997.1_Missense_Mutation_p.R274H|HIF1A-AS2_ENST00000554254.1_lincRNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	273	Interaction with TSGA10. {ECO:0000250}.|PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	CTTTTAGGCCGCTCAATTTAT	0.323																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(820-822)cGc>cAc		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							139.0	143.0	142.0					14																	62199180		2203	4299	6502	SO:0001583	missense	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62199180G>A	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.818G>A	14.37:g.62199180G>A	ENSP00000338018:p.Arg273His					HIF1A_ENST00000337138.4_Missense_Mutation_p.R273H|HIF1A_ENST00000557538.1_Missense_Mutation_p.R214H|HIF1A_ENST00000323441.6_Missense_Mutation_p.R273H|HIF1A_ENST00000539097.1_Missense_Mutation_p.R297H|HIF1A-AS2_ENST00000554254.1_lincRNA	p.R274H			Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	7	1086	+			273			Interaction with TSGA10 (By similarity).|PAS 2.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	c.821G>A	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802653	0.70682	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.57	4.68	0.58851	PAS fold-3 (1);PAS (3);	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	L	0.58969	1.84	0.80722	D	1	P;P;P	0.51449	0.809;0.945;0.945	B;B;B	0.43754	0.236;0.43;0.43	T	0.27054	-1.0085	10	0.66056	D	0.02	.	14.4042	0.67071	0.0711:0.0:0.9289:0.0	rs61755644	274;273;273	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	H	24;214;273;274;273;214;297	ENSP00000338018:R273H;ENSP00000378446:R274H;ENSP00000323326:R273H;ENSP00000451696:R214H;ENSP00000437955:R297H	ENSP00000323326:R273H	R	+	2	0	HIF1A	61268933	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.640000	0.74319	1.348000	0.45733	0.650000	0.86243	CGC		0.323	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		5	273	0	0	0	1	0	5	273				
SEMA3F	6405	broad.mit.edu	37	3	50223340	50223340	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:50223340T>G	ENST00000002829.3	+	16	2090	c.1606T>G	c.(1606-1608)Tca>Gca	p.S536A	SEMA3F_ENST00000413852.1_Missense_Mutation_p.S437A|SEMA3F_ENST00000434342.1_Missense_Mutation_p.S505A	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	536	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CTACGTGGCGTCAGCCGTGGG	0.647																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(1606-1608)Tca>Gca		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							90.0	85.0	87.0					3																	50223340		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50223340T>G	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1606T>G	3.37:g.50223340T>G	ENSP00000002829:p.Ser536Ala					SEMA3F_ENST00000413852.1_Missense_Mutation_p.S437A|SEMA3F_ENST00000434342.1_Missense_Mutation_p.S505A	p.S536A	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	16	2090	+			536			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.1606T>G	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.187352	0.57909	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.26067	1.76;1.76;1.76	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.83223	2.63	0.44927	D	0.997949	D;D	0.67145	0.985;0.996	D;D	0.77557	0.933;0.99	T	0.58651	-0.7599	10	0.87932	D	0	.	11.3805	0.49754	0.1356:0.0:0.0:0.8644	.	505;536	C9JQ85;Q13275	.;SEM3F_HUMAN	A	437;536;505	ENSP00000388931:S437A;ENSP00000002829:S536A;ENSP00000409859:S505A	ENSP00000002829:S536A	S	+	1	0	SEMA3F	50198344	1.000000	0.71417	0.979000	0.43373	0.051000	0.14879	4.139000	0.58024	2.116000	0.64780	0.379000	0.24179	TCA		0.647	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		58	20	0	0	0	1	0	58	20				
NRXN1	9378	broad.mit.edu	37	2	51255250	51255250	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:51255250C>G	ENST00000406316.2	-	2	1638	c.162G>C	c.(160-162)atG>atC	p.M54I	NRXN1_ENST00000405472.3_Missense_Mutation_p.M54I|NRXN1_ENST00000405581.1_Missense_Mutation_p.M54I|NRXN1_ENST00000404971.1_Missense_Mutation_p.M54I|NRXN1_ENST00000401669.2_Missense_Mutation_p.M54I|NRXN1_ENST00000402717.3_Missense_Mutation_p.M54I|NRXN1_ENST00000406859.3_Missense_Mutation_p.M54I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	54	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTGGAAGCTCATCTCGCTCT	0.682																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(160-162)atG>atC		neurexin 1							9.0	13.0	12.0					2																	51255250		1993	4149	6142	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255250C>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.162G>C	2.37:g.51255250C>G	ENSP00000384311:p.Met54Ile					NRXN1_ENST00000405472.3_Missense_Mutation_p.M54I|NRXN1_ENST00000405581.1_Missense_Mutation_p.M54I|NRXN1_ENST00000406316.2_Missense_Mutation_p.M54I|NRXN1_ENST00000402717.3_Missense_Mutation_p.M54I|NRXN1_ENST00000401669.2_Missense_Mutation_p.M54I|NRXN1_ENST00000406859.3_Missense_Mutation_p.M54I	p.M54I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1501	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	54			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.162G>C	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033147	0.54896	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	4.97	4.07	0.47477	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.330180	0.15575	U	0.255203	T	0.64832	0.2634	L	0.35288	1.05	0.37908	D	0.931276	B;B;B	0.27192	0.09;0.171;0.005	B;B;B	0.31869	0.137;0.096;0.002	T	0.57991	-0.7715	10	0.09338	T	0.73	.	15.1191	0.72429	0.0:0.8577:0.1423:0.0	.	54;54;54	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	I	54	ENSP00000385142:M54I;ENSP00000384311:M54I;ENSP00000434015:M54I;ENSP00000385017:M54I;ENSP00000385434:M54I;ENSP00000385681:M54I;ENSP00000385310:M54I	ENSP00000385017:M54I	M	-	3	0	NRXN1	51108754	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.870000	0.63035	1.037000	0.40024	0.563000	0.77884	ATG		0.682	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			3	15	0	0	0	1	0	3	15				
OSBP2	23762	broad.mit.edu	37	22	31289198	31289198	+	Silent	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr22:31289198C>T	ENST00000332585.6	+	9	2063	c.1959C>T	c.(1957-1959)ttC>ttT	p.F653F	OSBP2_ENST00000382310.3_Silent_p.F604F|OSBP2_ENST00000446658.2_Silent_p.F652F|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000437268.2_Silent_p.F395F|OSBP2_ENST00000407373.1_Silent_p.F480F|OSBP2_ENST00000403222.3_Silent_p.F487F|OSBP2_ENST00000535268.1_Silent_p.F197F|OSBP2_ENST00000401475.1_Silent_p.F286F	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	653					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCAGCAAGTTCCGGGGAAAAT	0.582																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1957-1959)ttC>ttT		oxysterol binding protein 2							44.0	48.0	47.0					22																	31289198		2006	4185	6191	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31289198C>T		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1959C>T	22.37:g.31289198C>T						OSBP2_ENST00000446658.2_Silent_p.F652F|OSBP2_ENST00000401475.1_Silent_p.F286F|OSBP2_ENST00000407373.1_Silent_p.F480F|OSBP2_ENST00000535268.1_Silent_p.F197F|OSBP2_ENST00000437268.2_Silent_p.F395F|OSBP2_ENST00000403222.3_Silent_p.F487F|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000382310.3_Silent_p.F604F	p.F653F	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			9	2063	+			653					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	c.1959C>T	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293924	0.23564	.	.	ENSG00000184792	ENST00000431368	.	.	.	4.66	3.64	0.41730	.	.	.	.	.	T	0.67702	0.2921	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66677	-0.5863	4	.	.	.	-28.8868	13.1236	0.59340	0.0:0.9209:0.0:0.0791	.	.	.	.	F	325	.	.	S	+	2	0	OSBP2	29619198	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.518000	0.35877	1.313000	0.45069	0.650000	0.86243	TCC		0.582	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		10	42	0	0	0	1	0	10	42				
DNAH5	1767	broad.mit.edu	37	5	13864598	13864598	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:13864598G>A	ENST00000265104.4	-	28	4608	c.4504C>T	c.(4504-4506)Ctc>Ttc	p.L1502F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1502	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCCCGGTGAGGGTGGTTATC	0.463									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(4504-4506)Ctc>Ttc		dynein, axonemal, heavy chain 5							65.0	64.0	65.0					5																	13864598		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13864598G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4504C>T	5.37:g.13864598G>A	ENSP00000265104:p.Leu1502Phe					CTB-51A17.1_ENST00000503244.1_RNA	p.L1502F	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			28	4608	-	Lung NSC(4;0.00476)		1502			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.4504C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559973	0.27827	.	.	ENSG00000039139	ENST00000265104	T	0.63096	-0.02	5.32	0.285	0.15705	Dynein heavy chain, domain-2 (1);	0.535452	0.19045	N	0.124198	T	0.74891	0.3776	M	0.88906	2.99	0.09310	N	1	B	0.33883	0.43	P	0.50754	0.649	T	0.69580	-0.5107	10	0.59425	D	0.04	.	7.6844	0.28532	0.0652:0.4586:0.358:0.1181	.	1502	Q8TE73	DYH5_HUMAN	F	1502	ENSP00000265104:L1502F	ENSP00000265104:L1502F	L	-	1	0	DNAH5	13917598	.	.	0.007000	0.13788	0.012000	0.07955	.	.	-0.254000	0.09500	-0.203000	0.12734	CTC		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		13	59	0	0	0	1	0	13	59				
ADAMTSL3	57188	broad.mit.edu	37	15	84683407	84683407	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr15:84683407G>A	ENST00000286744.5	+	24	4311	c.4087G>A	c.(4087-4089)Gga>Aga	p.G1363R	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1363R	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1363	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGAAAATGAAGGAACCTACGT	0.428																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(4087-4089)Gga>Aga		ADAMTS-like 3							162.0	145.0	151.0					15																	84683407		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84683407G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4087G>A	15.37:g.84683407G>A	ENSP00000286744:p.Gly1363Arg					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1363R	p.G1363R	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		24	4311	+			1363			Ig-like C2-type 3.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.4087G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412084	0.83340	.	.	ENSG00000156218	ENST00000286744	T	0.60424	0.19	5.03	5.03	0.67393	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38005	N	0.001845	D	0.86957	0.6058	H	0.99425	4.56	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.979	D	0.92428	0.5951	10	0.52906	T	0.07	.	18.3441	0.90315	0.0:0.0:1.0:0.0	.	1363;1363	P82987-2;P82987	.;ATL3_HUMAN	R	1363	ENSP00000286744:G1363R	ENSP00000286744:G1363R	G	+	1	0	ADAMTSL3	82474411	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.963000	0.76055	2.320000	0.78422	0.555000	0.69702	GGA		0.428	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		30	37	0	0	0	1	0	30	37				
RANBP17	64901	broad.mit.edu	37	5	170626766	170626766	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:170626766G>C	ENST00000523189.1	+	19	2295	c.2131G>C	c.(2131-2133)Gaa>Caa	p.E711Q	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	711					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.E711*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTTAAACAAGAAGATGTAAA	0.343			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - Nonsense(1)	p.E711*(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2131-2133)Gaa>Caa		RAN binding protein 17							96.0	95.0	96.0					5																	170626766		2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170626766G>C	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2131G>C	5.37:g.170626766G>C	ENSP00000427975:p.Glu711Gln					RANBP17_ENST00000521759.1_3'UTR	p.E711Q	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		19	2295	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	711					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.2131G>C	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252136	0.22880	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.68331	-0.32	6.17	6.17	0.99709	Armadillo-type fold (1);	0.092825	0.46442	D	0.000289	T	0.64789	0.2630	L	0.56396	1.775	0.47621	D	0.999474	B;B;B	0.23442	0.085;0.065;0.085	B;B;B	0.28139	0.086;0.079;0.086	T	0.57429	-0.7813	10	0.21014	T	0.42	-10.2823	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	711;36;711	Q546R4;Q96M10;Q9H2T7	.;.;RBP17_HUMAN	Q	711;141	ENSP00000427975:E711Q	ENSP00000427975:E711Q	E	+	1	0	RANBP17	170559371	1.000000	0.71417	0.990000	0.47175	0.835000	0.47333	4.122000	0.57910	2.941000	0.99782	0.655000	0.94253	GAA		0.343	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		12	86	0	0	0	1	0	12	86				
PM20D1	148811	broad.mit.edu	37	1	205801816	205801816	+	Missense_Mutation	SNP	C	C	T	rs199717760		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:205801816C>T	ENST00000367136.4	-	11	1239	c.1195G>A	c.(1195-1197)Gtc>Atc	p.V399I	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	399					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GAAGGGCTGACGGGGAGGGGG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		17314	0.0		0.001	False		,,,				2504	0.0					ENST00000367136.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.(1195-1197)Gtc>Atc		peptidase M20 domain containing 1							103.0	90.0	94.0					1																	205801816		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205801816C>T		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.1195G>A	1.37:g.205801816C>T	ENSP00000356104:p.Val399Ile					PM20D1_ENST00000460624.1_5'UTR	p.V399I	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		11	1239	-	Breast(84;0.201)		399					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.1195G>A	CCDS1460.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.024	-1.393359	0.01185	.	.	ENSG00000162877	ENST00000367136	T	0.08720	3.06	5.26	-10.5	0.00291	.	0.977787	0.08415	N	0.949294	T	0.02380	0.0073	N	0.11364	0.135	0.09310	N	0.999996	B	0.15141	0.012	B	0.18263	0.021	T	0.38200	-0.9672	10	0.02654	T	1	.	5.1941	0.15227	0.0874:0.359:0.0878:0.4657	.	399	Q6GTS8	P20D1_HUMAN	I	399	ENSP00000356104:V399I	ENSP00000356104:V399I	V	-	1	0	PM20D1	204068439	0.000000	0.05858	0.002000	0.10522	0.160000	0.22226	-3.283000	0.00527	-1.843000	0.01179	-0.937000	0.02696	GTC		0.537	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		25	63	0	0	0	1	0	25	63				
TFE3	7030	broad.mit.edu	37	X	48887896	48887896	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chrX:48887896G>C	ENST00000315869.7	-	10	1760	c.1501C>G	c.(1501-1503)Ctg>Gtg	p.L501V	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	501					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TGCAGGTCCAGAAGGGCATCT	0.672			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""		"""papillary renal, alveolar soft part sarcoma, renal"""	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1501-1503)Ctg>Gtg		transcription factor binding to IGHM enhancer 3							70.0	70.0	70.0					X																	48887896		2203	4298	6501	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887896G>C	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1501C>G	X.37:g.48887896G>C	ENSP00000314129:p.Leu501Val					TFE3_ENST00000493583.1_5'UTR	p.L501V	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			10	1760	-			501					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.1501C>G	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469341	0.63625	.	.	ENSG00000068323	ENST00000315869	T	0.69175	-0.38	5.51	5.51	0.81932	.	2.499830	0.01742	U	0.029465	T	0.67040	0.2851	N	0.25890	0.77	0.40969	D	0.984681	P	0.47841	0.901	P	0.46110	0.504	T	0.54470	-0.8289	10	0.27082	T	0.32	-8.0615	17.1358	0.86739	0.0:0.0:1.0:0.0	.	501	P19532	TFE3_HUMAN	V	501	ENSP00000314129:L501V	ENSP00000314129:L501V	L	-	1	2	TFE3	48774840	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.067000	0.64357	2.311000	0.77944	0.509000	0.49947	CTG		0.672	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		15	35	0	0	0	1	0	15	35				
DENND2A	27147	broad.mit.edu	37	7	140266930	140266930	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:140266930C>T	ENST00000275884.6	-	8	2152	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	DENND2A_ENST00000537639.1_Missense_Mutation_p.G579R|DENND2A_ENST00000492720.1_Missense_Mutation_p.G579R|DENND2A_ENST00000496613.1_Missense_Mutation_p.G579R			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	579	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TAGGCAGCCCCGGCCTGCTTC	0.582																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1735-1737)Ggg>Agg		DENN/MADD domain containing 2A							36.0	40.0	38.0					7																	140266930		1941	4151	6092	SO:0001583	missense	27147							g.chr7:140266930C>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1735G>A	7.37:g.140266930C>T	ENSP00000275884:p.Gly579Arg					DENND2A_ENST00000537639.1_Missense_Mutation_p.G579R|DENND2A_ENST00000492720.1_Missense_Mutation_p.G579R|DENND2A_ENST00000496613.1_Missense_Mutation_p.G579R	p.G579R			Q9ULE3	DEN2A_HUMAN			8	2152	-	Melanoma(164;0.00956)		579			UDENN.		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.1735G>A	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174502	0.21704	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.10477	3.61;3.61;3.61;2.87	5.86	4.04	0.47022	uDENN (3);	0.128823	0.52532	N	0.000068	T	0.20088	0.0483	L	0.55103	1.725	0.51767	D	0.999939	D;B	0.76494	0.999;0.174	D;B	0.69479	0.964;0.133	T	0.08848	-1.0702	10	0.20519	T	0.43	-31.4322	5.916	0.19055	0.1339:0.6585:0.0:0.2076	.	579;579	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	R	579	ENSP00000275884:G579R;ENSP00000442245:G579R;ENSP00000419654:G579R;ENSP00000419464:G579R	ENSP00000275884:G579R	G	-	1	0	DENND2A	139913399	0.998000	0.40836	0.878000	0.34440	0.856000	0.48823	3.687000	0.54692	1.489000	0.48450	0.655000	0.94253	GGG		0.582	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		7	12	0	0	0	1	0	7	12				
ITGA4	3676	broad.mit.edu	37	2	182360528	182360528	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:182360528T>G	ENST00000397033.2	+	14	1834	c.1404T>G	c.(1402-1404)atT>atG	p.I468M		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	468					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CTGTAGTAATTGTTGACGCTT	0.353																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1402-1404)atT>atG		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						124.0	112.0	116.0					2																	182360528		1877	4104	5981	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182360528T>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1404T>G	2.37:g.182360528T>G	ENSP00000380227:p.Ile468Met						p.I468M	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		14	1834	+			468					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1404T>G	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395347	0.62066	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.55588	0.51;0.51	5.81	4.67	0.58626	Integrin alpha-2 (1);	0.189692	0.50627	D	0.000106	T	0.64746	0.2626	L	0.56769	1.78	0.41976	D	0.990779	D	0.65815	0.995	D	0.66497	0.944	T	0.65721	-0.6099	10	0.48119	T	0.1	.	11.2831	0.49206	0.0:0.0709:0.0:0.9291	.	468	P13612	ITA4_HUMAN	M	468	ENSP00000380227:I468M;ENSP00000233573:I468M	ENSP00000233573:I468M	I	+	3	3	ITGA4	182068773	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.220000	0.58567	2.216000	0.71823	0.533000	0.62120	ATT		0.353	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			17	90	0	0	0	1	0	17	90				
ALDH2	217	broad.mit.edu	37	12	112221026	112221026	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr12:112221026G>A	ENST00000261733.2	+	3	345	c.284G>A	c.(283-285)cGc>cAc	p.R95H	ALDH2_ENST00000416293.3_Intron|RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.A92T	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	95					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CCTTGGCGCCGCATGGACGCA	0.637			T	HMGA2	leiomyoma																																	ENST00000261733.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(283-285)cGc>cAc		aldehyde dehydrogenase 2 family (mitochondrial)	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						67.0	78.0	74.0					12																	112221026		2203	4299	6502	SO:0001583	missense	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112221026G>A	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.284G>A	12.37:g.112221026G>A	ENSP00000261733:p.Arg95His					ALDH2_ENST00000416293.3_Intron|RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.A92T	p.R95H	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN			3	345	+			95					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	c.284G>A	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	g	25.1	4.603686	0.87157	.	.	ENSG00000257767;ENSG00000111275;ENSG00000111275	ENST00000546840;ENST00000261733;ENST00000553044	T	0.76578	-1.03	5.57	3.41	0.39046	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.101452	0.64402	D	0.000004	T	0.68851	0.3046	L	0.57536	1.79	0.80722	D	1	P;B	0.46912	0.886;0.014	B;B	0.32533	0.147;0.015	T	0.73827	-0.3860	10	0.54805	T	0.06	.	13.4074	0.60922	0.1482:0.0:0.8518:0.0	.	95;95	F8VXI5;P05091	.;ALDH2_HUMAN	H	76;95;95	ENSP00000261733:R95H	ENSP00000261733:R95H	R	+	2	0	ALDH2;RP11-162P23.2	110705409	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.595000	0.82710	1.352000	0.45808	0.651000	0.88453	CGC		0.637	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		5	151	0	0	0	1	0	5	151				
HIST1H1D	3007	broad.mit.edu	37	6	26235027	26235027	+	Silent	SNP	G	G	A	rs200463287		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:26235027G>A	ENST00000244534.5	-	1	189	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	45	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTGCCTTGGTGATAAGCTCAG	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16946	0.0		0.0	False		,,,				2504	0.0					ENST00000244534.5																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(133-135)atC>atT		histone cluster 1, H1d							93.0	93.0	93.0					6																	26235027		2203	4300	6503	SO:0001819	synonymous_variant	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26235027G>A	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.135C>T	6.37:g.26235027G>A							p.I45I	NM_005320.2	NP_005311.1	P16402	H13_HUMAN			1	189	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	45			H15.		B2R751|Q2M2I2	Silent	SNP	ENST00000244534.5	37	c.135C>T	CCDS4597.1																																																																																				0.542	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		73	157	0	0	0	1	0	73	157				
EBF3	253738	broad.mit.edu	37	10	131761636	131761636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr10:131761636C>A	ENST00000355311.5	-	2	358	c.286G>T	c.(286-288)Gag>Tag	p.E96*	EBF3_ENST00000368648.3_Nonsense_Mutation_p.E96*			Q9H4W6	COE3_HUMAN	early B-cell factor 3	96					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CTTACTTTCTCTTTCTCCACA	0.582																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(286-288)Gag>Tag		early B-cell factor 3							89.0	93.0	92.0					10																	131761636		2203	4300	6503	SO:0001587	stop_gained	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131761636C>A		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.286G>T	10.37:g.131761636C>A	ENSP00000347463:p.Glu96*					EBF3_ENST00000355311.5_Nonsense_Mutation_p.E96*	p.E96*	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	2	358	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	96					A0AUY1|Q5T6H9|Q9H4W5	Nonsense_Mutation	SNP	ENST00000355311.5	37	c.286G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.281757	0.95489	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	.	.	.	3.45	3.45	0.39498	.	0.122224	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.68	14.5175	0.67827	0.0:1.0:0.0:0.0	.	.	.	.	X	96	.	ENSP00000347463:E96X	E	-	1	0	EBF3	131651626	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.027000	0.76463	1.453000	0.47775	0.205000	0.17691	GAG		0.582	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		22	49	1	0	9.57634e-11	1	1.04672e-10	22	49				
TNFAIP6	7130	broad.mit.edu	37	2	152236028	152236028	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:152236028G>T	ENST00000243347.3	+	6	890	c.815G>T	c.(814-816)gGa>gTa	p.G272V		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	272					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	TTTTTAGCTGGAAGATTTAGC	0.308																																						ENST00000243347.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(814-816)gGa>gTa		tumor necrosis factor, alpha-induced protein 6							44.0	50.0	48.0					2																	152236028		2203	4300	6503	SO:0001583	missense	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152236028G>T		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.815G>T	2.37:g.152236028G>T	ENSP00000243347:p.Gly272Val						p.G272V	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	6	890	+			272					Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	c.815G>T	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922150	0.52653	.	.	ENSG00000123610	ENST00000243347	T	0.21031	2.03	5.56	5.56	0.83823	.	0.078472	0.52532	D	0.000072	T	0.34919	0.0914	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04165	-1.0972	10	0.44086	T	0.13	.	17.2873	0.87146	0.0:0.0:1.0:0.0	.	272	P98066	TSG6_HUMAN	V	272	ENSP00000243347:G272V	ENSP00000243347:G272V	G	+	2	0	TNFAIP6	151944274	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	4.490000	0.60319	2.598000	0.87819	0.655000	0.94253	GGA		0.308	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		9	73	1	0	0.00448238	1	0.00453058	9	73				
ZNF704	619279	broad.mit.edu	37	8	81555345	81555345	+	Missense_Mutation	SNP	G	G	A	rs139476385		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr8:81555345G>A	ENST00000327835.3	-	8	1283	c.1052C>T	c.(1051-1053)cCg>cTg	p.P351L		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	351							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGTGCCCACCGGATGATGTGT	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16628	0.0		0.0	False		,,,				2504	0.0					ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1051-1053)cCg>cTg		zinc finger protein 704		G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	172.0	120.0	138.0		1052	4.2	0.0	8	dbSNP_134	138	0,8600		0,0,4300	no	missense	ZNF704	NM_001033723.2	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	351/413	81555345	2,13004	2203	4300	6503	SO:0001583	missense	619279					intracellular	zinc ion binding	g.chr8:81555345G>A	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.1052C>T	8.37:g.81555345G>A	ENSP00000331462:p.Pro351Leu						p.P351L	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		8	1283	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		351					B2RNE6|B9EGW6	Missense_Mutation	SNP	ENST00000327835.3	37	c.1052C>T	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017468	0.35606	4.54E-4	0.0	ENSG00000164684	ENST00000327835	T	0.29917	1.55	6.02	4.17	0.49024	.	0.678984	0.16264	N	0.222082	T	0.25791	0.0628	L	0.47190	1.495	0.09310	N	0.999991	B	0.06786	0.001	B	0.06405	0.002	T	0.17592	-1.0364	10	0.31617	T	0.26	-0.4243	8.691	0.34267	0.1856:0.0:0.8144:0.0	.	351	Q6ZNC4	ZN704_HUMAN	L	351	ENSP00000331462:P351L	ENSP00000331462:P351L	P	-	2	0	ZNF704	81717900	0.017000	0.18338	0.002000	0.10522	0.810000	0.45777	1.154000	0.31688	0.806000	0.34183	0.650000	0.86243	CCG		0.527	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		4	23	0	0	0	1	0	4	23				
DOCK4	9732	broad.mit.edu	37	7	111474739	111474739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:111474739C>A	ENST00000437633.1	-	26	2996	c.2740G>T	c.(2740-2742)Gag>Tag	p.E914*	DOCK4_ENST00000428084.1_Nonsense_Mutation_p.E914*	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	914					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCAACAAACTCCCCCTAAGTT	0.333																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2740-2742)Gag>Tag		dedicator of cytokinesis 4							36.0	35.0	35.0					7																	111474739		1800	4037	5837	SO:0001587	stop_gained	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111474739C>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2740G>T	7.37:g.111474739C>A	ENSP00000404179:p.Glu914*					DOCK4_ENST00000437633.1_Nonsense_Mutation_p.E914*	p.E914*			Q8N1I0	DOCK4_HUMAN			26	3012	-		Acute lymphoblastic leukemia(1;0.0441)	914					O14584|O94824|Q8NB45	Nonsense_Mutation	SNP	ENST00000437633.1	37	c.2740G>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	41	8.955700	0.99016	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.	.	.	5.31	5.31	0.75309	.	0.147474	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	16.9304	0.86189	0.0:1.0:0.0:0.0	.	.	.	.	X	902;914;914;902;913	.	ENSP00000345432:E902X	E	-	1	0	DOCK4	111261975	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.812000	0.69194	2.765000	0.95021	0.557000	0.71058	GAG		0.333	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		3	1	1	0	0.184627	1	0.184627	3	1				
GP2	2813	broad.mit.edu	37	16	20337725	20337725	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr16:20337725C>A	ENST00000381362.4	-	2	105	c.29G>T	c.(28-30)gGc>gTc	p.G10V	GP2_ENST00000381360.5_Missense_Mutation_p.G10V|GP2_ENST00000341642.5_Missense_Mutation_p.G10V|GP2_ENST00000302555.5_Missense_Mutation_p.G10V|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	10					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAGGCCAGAGCCCACCATCCT	0.522																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(28-30)gGc>gTc		glycoprotein 2 (zymogen granule membrane)							100.0	88.0	92.0					16																	20337725		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20337725C>A	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.29G>T	16.37:g.20337725C>A	ENSP00000370767:p.Gly10Val					GP2_ENST00000341642.5_Missense_Mutation_p.G10V|GP2_ENST00000381360.5_Missense_Mutation_p.G10V|GP2_ENST00000381362.4_Missense_Mutation_p.G10V	p.G10V			P55259	GP2_HUMAN			2	178	-			10					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.29G>T	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594029	0.46214	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7	4.5	0.17	0.15021	.	.	.	.	.	D	0.98229	0.9414	L	0.46157	1.445	0.09310	N	1	D;P;D;P	0.53312	0.959;0.931;0.959;0.931	P;P;P;P	0.54664	0.675;0.577;0.758;0.577	D	0.95165	0.8285	9	0.72032	D	0.01	-18.8223	4.76	0.13102	0.0:0.4588:0.3453:0.196	.	10;135;10;10	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	V	10;10;10;10;135	ENSP00000304044:G10V;ENSP00000370767:G10V;ENSP00000370765:G10V;ENSP00000343861:G10V	ENSP00000304044:G10V	G	-	2	0	GP2	20245226	0.000000	0.05858	0.002000	0.10522	0.422000	0.31414	-0.728000	0.04925	0.212000	0.20703	-0.133000	0.14855	GGC		0.522	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		9	55	1	0	2.74318e-10	1	2.98103e-10	9	55				
OR5F1	338674	broad.mit.edu	37	11	55761712	55761712	+	Silent	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:55761712C>A	ENST00000278409.1	-	1	389	c.390G>T	c.(388-390)ctG>ctT	p.L130L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	130					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGGAGTAAAGCAGCGGGCGAC	0.507																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(388-390)ctG>ctT		olfactory receptor, family 5, subfamily F, member 1							55.0	56.0	55.0					11																	55761712		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761712C>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.390G>T	11.37:g.55761712C>A							p.L130L	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	389	-	Esophageal squamous(21;0.00448)		130					Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.390G>T	CCDS31515.1																																																																																				0.507	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		24	51	1	0	5.35356e-11	1	5.88578e-11	24	51				
PHC2	1912	broad.mit.edu	37	1	33836668	33836668	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:33836668T>C	ENST00000257118.5	-	3	414	c.361A>G	c.(361-363)Agc>Ggc	p.S121G	PHC2_ENST00000419414.2_Missense_Mutation_p.S121G|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.S121G	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	121					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTGAAGTGCTTCCTTGTCTA	0.562																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(361-363)Agc>Ggc		polyhomeotic homolog 2 (Drosophila)							141.0	139.0	140.0					1																	33836668		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33836668T>C	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.361A>G	1.37:g.33836668T>C	ENSP00000257118:p.Ser121Gly					PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.S121G|PHC2_ENST00000419414.2_Missense_Mutation_p.S121G	p.S121G	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			3	414	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	121					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.361A>G	CCDS378.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.047171	0.36085	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	T;T;T	0.36340	1.7;1.26;1.7	5.3	2.96	0.34315	.	0.501458	0.22002	N	0.065990	T	0.27169	0.0666	L	0.52126	1.63	0.26092	N	0.980944	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.14868	-1.0457	10	0.31617	T	0.26	-8.8509	4.8329	0.13449	0.0:0.29:0.0:0.71	.	121;121;121	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	G	121	ENSP00000389436:S121G;ENSP00000257118:S121G;ENSP00000391440:S121G	ENSP00000257118:S121G	S	-	1	0	PHC2	33609255	0.636000	0.27207	0.967000	0.41034	0.841000	0.47740	0.899000	0.28417	0.846000	0.35142	0.460000	0.39030	AGC		0.562	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		45	83	0	0	0	1	0	45	83				
WDR72	256764	broad.mit.edu	37	15	53908088	53908088	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr15:53908088A>C	ENST00000396328.1	-	15	2554	c.2315T>G	c.(2314-2316)aTg>aGg	p.M772R	WDR72_ENST00000559418.1_Missense_Mutation_p.M782R|WDR72_ENST00000360509.5_Missense_Mutation_p.M772R|WDR72_ENST00000557913.1_Missense_Mutation_p.M769R	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	772										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGAGATCTTCATTTTCTTCTG	0.413																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2314-2316)aTg>aGg		WD repeat domain 72							162.0	154.0	157.0					15																	53908088		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53908088A>C	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2315T>G	15.37:g.53908088A>C	ENSP00000379619:p.Met772Arg					WDR72_ENST00000559418.1_Missense_Mutation_p.M782R|WDR72_ENST00000557913.1_Missense_Mutation_p.M769R|WDR72_ENST00000360509.5_Missense_Mutation_p.M772R	p.M772R	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2554	-			772					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2315T>G	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.960878	0.34565	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.35605	1.3;1.3	5.78	-0.293	0.12835	.	0.704369	0.15072	N	0.282140	T	0.20700	0.0498	L	0.27053	0.805	0.30084	N	0.808911	B	0.22346	0.068	B	0.16722	0.016	T	0.30416	-0.9979	10	0.13108	T	0.6	.	10.0809	0.42388	0.665:0.0:0.335:0.0	.	772	Q3MJ13	WDR72_HUMAN	R	772	ENSP00000379619:M772R;ENSP00000353699:M772R	ENSP00000353699:M772R	M	-	2	0	WDR72	51695380	0.592000	0.26832	0.928000	0.36995	0.950000	0.60333	0.218000	0.17622	0.131000	0.18576	0.460000	0.39030	ATG		0.413	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		50	70	0	0	0	1	0	50	70				
NR2F1	7025	broad.mit.edu	37	5	92929485	92929485	+	Silent	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:92929485C>A	ENST00000327111.3	+	3	2896	c.1209C>A	c.(1207-1209)atC>atA	p.I403I	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	403					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AAACTCTCATCCGCGATATGT	0.587																																						ENST00000327111.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(1207-1209)atC>atA		nuclear receptor subfamily 2, group F, member 1							135.0	125.0	128.0					5																	92929485		2203	4300	6503	SO:0001819	synonymous_variant	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92929485C>A	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1209C>A	5.37:g.92929485C>A						NR2F1_ENST00000506162.1_3'UTR	p.I403I	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	3	2896	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	403						Silent	SNP	ENST00000327111.3	37	c.1209C>A	CCDS4068.1																																																																																				0.587	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		55	37	1	0	1.27334e-21	1	1.51511e-21	55	37				
PAQR7	164091	broad.mit.edu	37	1	26189512	26189512	+	Silent	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:26189512C>T	ENST00000374296.3	-	2	1485	c.819G>A	c.(817-819)caG>caA	p.Q273Q	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	273					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGGTGGCCCTGCCCGAAGA	0.597																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	ENST00000374296.3																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(817-819)caG>caA		progestin and adipoQ receptor family member VII							52.0	52.0	52.0					1																	26189512		2203	4300	6503	SO:0001819	synonymous_variant	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26189512C>T		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.819G>A	1.37:g.26189512C>T						RP1-125I3.2_ENST00000455431.1_RNA	p.Q273Q	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	1485	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	273					A2A2D3|Q5XKF9|Q86VE4	Silent	SNP	ENST00000374296.3	37	c.819G>A	CCDS267.1																																																																																				0.597	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		17	37	0	0	0	1	0	17	37				
BNIP3P1	319138	broad.mit.edu	37	14	28734098	28734098	+	RNA	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr14:28734098C>G	ENST00000550043.1	+	0	503									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		TGAAGAAAAACTCAGATTGGA	0.463																																						ENST00000550043.1																			0																																																			319138							g.chr14:28734098C>G			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28734098C>G														0	503	+									RNA	SNP	ENST00000550043.1	37																																																																																						0.463	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1			103	80	0	0	0	1	0	103	80				
HTR2C	3358	broad.mit.edu	37	X	114141800	114141800	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chrX:114141800G>C	ENST00000276198.1	+	6	1927	c.1199G>C	c.(1198-1200)aGa>aCa	p.R400T	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.R400T	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	400					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAGATTCCAAGAGTTGCCGCC	0.453																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(1198-1200)aGa>aCa		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						85.0	87.0	86.0					X																	114141800		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141800G>C		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.1199G>C	X.37:g.114141800G>C	ENSP00000276198:p.Arg400Thr					HTR2C_ENST00000371951.1_Missense_Mutation_p.R400T|HTR2C_ENST00000371950.3_3'UTR	p.R400T	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			6	1927	+			400					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.1199G>C	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	G	5.549	0.286118	0.10513	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.58797	0.31;0.31	4.75	3.84	0.44239	.	0.351823	0.29486	N	0.012010	T	0.36826	0.0981	N	0.22421	0.69	0.09310	N	0.999995	B	0.15141	0.012	B	0.11329	0.006	T	0.09930	-1.0652	10	0.16420	T	0.52	.	7.2568	0.26181	0.0:0.1797:0.6322:0.1881	.	400	P28335	5HT2C_HUMAN	T	400	ENSP00000276198:R400T;ENSP00000361019:R400T	ENSP00000276198:R400T	R	+	2	0	HTR2C	114048056	0.027000	0.19231	0.749000	0.31150	0.723000	0.41478	1.325000	0.33724	2.205000	0.71048	0.292000	0.19580	AGA		0.453	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		26	52	0	0	0	1	0	26	52				
CDC27	996	broad.mit.edu	37	17	45234324	45234324	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr17:45234324C>T	ENST00000066544.3	-	7	890	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	CDC27_ENST00000531206.1_Missense_Mutation_p.R266Q|CDC27_ENST00000527547.1_Missense_Mutation_p.R266Q|CDC27_ENST00000446365.2_Missense_Mutation_p.R205Q|CDC27_ENST00000528748.1_5'Flank	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAATAAACTTCGACCAGTTTT	0.358																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(796-798)cGa>cAa		cell division cycle 27							60.0	65.0	63.0					17																	45234324		2200	4293	6493	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234324C>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.797G>A	17.37:g.45234324C>T	ENSP00000066544:p.Arg266Gln					CDC27_ENST00000446365.2_Missense_Mutation_p.R205Q|CDC27_ENST00000531206.1_Missense_Mutation_p.R266Q|CDC27_ENST00000527547.1_Missense_Mutation_p.R266Q	p.R266Q	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			7	890	-			266					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.797G>A	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328146	0.81690	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.69806	-0.43;-0.4;-0.17;-0.43;0.52	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	L	0.34521	1.04	0.58432	D	0.999999	D;D;D;P	0.89917	1.0;1.0;0.991;0.921	D;D;P;B	0.72338	0.95;0.977;0.724;0.153	T	0.69975	-0.4999	10	0.30854	T	0.27	-17.5002	17.2083	0.86924	0.0:1.0:0.0:0.0	.	205;266;266;266	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	Q	266;266;205;266;266	ENSP00000066544:R266Q;ENSP00000434614:R266Q;ENSP00000392802:R205Q;ENSP00000437339:R266Q;ENSP00000432105:R266Q	ENSP00000066544:R266Q	R	-	2	0	CDC27	42589323	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.320000	0.79064	2.665000	0.90641	0.460000	0.39030	CGA		0.358	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			3	51	0	0	0	1	0	3	51				
MT-ND2	4536	broad.mit.edu	37	M	2690	2690	+	5'Flank	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chrM:2690G>A	ENST00000361453.3	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TA_ENST00000387392.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						attgacctgcccgtgaagagg	0.443																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	100616263							g.chrM:2690G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2690G>A	Exception_encountered							NR_039705.1						0	1020	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.443	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		43	4	0	0	0	1	0	43	4				
RARS2	57038	broad.mit.edu	37	6	88229385	88229385	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:88229385T>A	ENST00000369536.5	-	14	1198	c.1153A>T	c.(1153-1155)Act>Tct	p.T385S	RARS2_ENST00000497828.1_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	385					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CCTCTTCGAGTCTTCATTCCC	0.403																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1153-1155)Act>Tct		arginyl-tRNA synthetase 2, mitochondrial							109.0	102.0	105.0					6																	88229385		2203	4300	6503	SO:0001583	missense	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88229385T>A	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.1153A>T	6.37:g.88229385T>A	ENSP00000358549:p.Thr385Ser						p.T385S	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	14	1198	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	385					B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	c.1153A>T	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	T	32	5.184410	0.94885	.	.	ENSG00000146282	ENST00000369536	T	0.69040	-0.37	5.97	5.97	0.96955	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.76033	0.3931	M	0.64676	1.99	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.91635	0.988;0.999	T	0.78497	-0.2181	10	0.62326	D	0.03	.	16.4534	0.84003	0.0:0.0:0.0:1.0	.	385;210	Q5T160;E1P510	SYRM_HUMAN;.	S	385	ENSP00000358549:T385S	ENSP00000358549:T385S	T	-	1	0	RARS2	88286104	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	5.523000	0.67099	2.285000	0.76669	0.477000	0.44152	ACT		0.403	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		6	101	0	0	0	1	0	6	101				
PTPN4	5775	broad.mit.edu	37	2	120702750	120702750	+	Silent	SNP	G	G	A	rs374203083		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:120702750G>A	ENST00000263708.2	+	16	2220	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S	PTPN4_ENST00000544261.1_Silent_p.S116S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	483					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATTCACATTCGCAACAAGATC	0.368																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(1447-1449)tcG>tcA		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)	G		1,4405	2.1+/-5.4	0,1,2202	81.0	83.0	82.0		1449	-0.4	1.0	2		82	0,8600		0,0,4300	no	coding-synonymous	PTPN4	NM_002830.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		483/927	120702750	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120702750G>A		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1449G>A	2.37:g.120702750G>A						PTPN4_ENST00000544261.1_Silent_p.S116S	p.S483S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			16	2220	+			483					B2RBV8|Q9UDA7	Silent	SNP	ENST00000263708.2	37	c.1449G>A	CCDS2129.1																																																																																				0.368	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			22	49	0	0	0	1	0	22	49				
MFSD1	64747	broad.mit.edu	37	3	158539845	158539845	+	Silent	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:158539845C>T	ENST00000264266.8	+	11	1055	c.993C>T	c.(991-993)atC>atT	p.I331I	MFSD1_ENST00000392813.4_Silent_p.I341I|MFSD1_ENST00000415822.2_Silent_p.I380I			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	331					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGAAGAACATCATCTGGGTTC	0.483																																					Pancreas(62;1186 1654 36636 37908)	ENST00000415822.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26						c.(1138-1140)atC>atT		major facilitator superfamily domain containing 1							150.0	134.0	140.0					3																	158539845		2203	4300	6503	SO:0001819	synonymous_variant	64747				transmembrane transport	integral to membrane		g.chr3:158539845C>T	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.993C>T	3.37:g.158539845C>T						MFSD1_ENST00000392813.4_Silent_p.I341I|MFSD1_ENST00000264266.8_Silent_p.I331I	p.I380I	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		11	1281	+			331					B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Silent	SNP	ENST00000264266.8	37	c.1140C>T																																																																																					0.483	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		23	61	0	0	0	1	0	23	61				
BAG3	9531	broad.mit.edu	37	10	121429550	121429550	+	Missense_Mutation	SNP	G	G	A	rs199991063		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr10:121429550G>A	ENST00000369085.3	+	2	674	c.368G>A	c.(367-369)cGa>cAa	p.R123Q		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	123					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		CAGCGATTCCGAACTGAGGCG	0.607																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(367-369)cGa>cAa		BCL2-associated athanogene 3		G	GLN/ARG	0,4406		0,0,2203	80.0	84.0	83.0		368	3.3	0.9	10		83	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BAG3	NM_004281.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	123/576	121429550	1,13005	2203	4300	6503	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121429550G>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.368G>A	10.37:g.121429550G>A	ENSP00000358081:p.Arg123Gln						p.R123Q	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	2	674	+		Lung NSC(174;0.109)|all_lung(145;0.142)	123					A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.368G>A	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539219	0.45176	0.0	1.16E-4	ENSG00000151929	ENST00000369085;ENST00000450186	T;T	0.78481	-1.06;-1.18	5.49	3.26	0.37387	.	0.198105	0.43579	N	0.000548	T	0.60637	0.2284	L	0.28458	0.855	0.46185	D	0.998912	B;B	0.27286	0.174;0.174	B;B	0.17433	0.018;0.018	T	0.53394	-0.8445	10	0.19147	T	0.46	-4.3519	8.3527	0.32312	0.3033:0.0:0.6967:0.0	.	123;123	O95817;Q53GY1	BAG3_HUMAN;.	Q	123;65	ENSP00000358081:R123Q;ENSP00000410036:R65Q	ENSP00000358081:R123Q	R	+	2	0	BAG3	121419540	0.996000	0.38824	0.898000	0.35279	0.607000	0.37147	2.636000	0.46545	1.281000	0.44480	0.561000	0.74099	CGA		0.607	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		10	80	0	0	0	1	0	10	80				
MED25	81857	broad.mit.edu	37	19	50339143	50339143	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr19:50339143C>T	ENST00000312865.6	+	16	1959	c.1906C>T	c.(1906-1908)Cgg>Tgg	p.R636W	PTOV1-AS1_ENST00000596521.1_RNA|MED25_ENST00000538643.1_Missense_Mutation_p.R423W	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	636	Interaction with RARA.|Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		ACCCATCCTTCGGCCCCAGAA	0.687																																					GBM(51;894 1657 37868)	ENST00000312865.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17						c.(1906-1908)Cgg>Tgg		mediator complex subunit 25							15.0	19.0	18.0					19																	50339143		2166	4237	6403	SO:0001583	missense	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50339143C>T	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1906C>T	19.37:g.50339143C>T	ENSP00000326767:p.Arg636Trp					MED25_ENST00000538643.1_Missense_Mutation_p.R423W	p.R636W	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	16	1959	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	636			Interaction with RARA.|Pro-rich.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.1906C>T	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748391	0.69533	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070	D;D	0.82344	-1.6;-1.59	4.84	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	L	0.27053	0.805	0.36662	D	0.878034	B;B;B	0.25850	0.136;0.136;0.136	B;B;B	0.15484	0.013;0.013;0.013	T	0.71849	-0.4468	10	0.87932	D	0	.	7.8682	0.29549	0.1604:0.7533:0.0:0.0863	.	423;636;636	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	W	636;636;636;636;615;423;371	ENSP00000326767:R636W;ENSP00000437496:R423W	ENSP00000326767:R636W	R	+	1	2	MED25	55030955	0.795000	0.28851	0.990000	0.47175	0.811000	0.45836	1.031000	0.30165	1.276000	0.44395	-0.373000	0.07131	CGG		0.687	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		8	32	0	0	0	1	0	8	32				
ACTN3	89	broad.mit.edu	37	11	66322664	66322664	+	RNA	SNP	C	C	T	rs557104178		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:66322664C>T	ENST00000502692.1	+	0	866				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TCATCGACTACGCCAAACTGC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		16195	0.001		0.0	False		,,,				2504	0.0					ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							70.0	78.0	75.0					11																	66322664		2196	4293	6489			89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66322664C>T	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66322664C>T						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	718	+								A6NP77|Q4KKV2	RNA	SNP	ENST00000502692.1	37																																																																																						0.627	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		15	36	0	0	0	1	0	15	36				
RIMS2	9699	broad.mit.edu	37	8	105160838	105160838	+	Silent	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr8:105160838C>G	ENST00000436393.2	+	23	3391	c.3150C>G	c.(3148-3150)gtC>gtG	p.V1050V	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTGACAGTGTCTTTACATCCA	0.368										HNSCC(12;0.0054)																												ENST00000436393.2																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3148-3150)gtC>gtG		regulating synaptic membrane exocytosis 2							38.0	36.0	37.0					8																	105160838		876	1991	2867	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105160838C>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3150C>G	8.37:g.105160838C>G		HNSCC(12;0.0054)				RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron	p.V1050V			Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		23	3391	+			485					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.3150C>G																																																																																					0.368	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		25	2	0	0	0	1	0	25	2				
VWA8	23078	broad.mit.edu	37	13	42393503	42393503	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr13:42393503G>A	ENST00000379310.3	-	15	1788	c.1720C>T	c.(1720-1722)Ccc>Tcc	p.P574S	VWA8_ENST00000281496.6_Missense_Mutation_p.P574S	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	574						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CTGAAGGAGGGATGGATAGGA	0.373																																						ENST00000379310.3																			0											c.(1720-1722)Ccc>Tcc		von Willebrand factor A domain containing 8							59.0	63.0	61.0					13																	42393503		2203	4300	6503	SO:0001583	missense	23078							g.chr13:42393503G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1720C>T	13.37:g.42393503G>A	ENSP00000368612:p.Pro574Ser					VWA8_ENST00000281496.6_Missense_Mutation_p.P574S	p.P574S	NM_015058.1	NP_055873.1					15	1788	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.1720C>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382100	0.61845	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.39229	1.09;1.09	5.51	4.65	0.58169	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	M	0.85197	2.74	0.80722	D	1	B	0.20368	0.044	B	0.31390	0.129	T	0.58267	-0.7666	10	0.72032	D	0.01	.	13.7708	0.63023	0.0748:0.0:0.9252:0.0	.	574	A3KMH1	K0564_HUMAN	S	478;574;574	ENSP00000368612:P574S;ENSP00000281496:P574S	ENSP00000251030:P478S	P	-	1	0	KIAA0564	41291503	1.000000	0.71417	0.999000	0.59377	0.669000	0.39330	2.811000	0.47986	2.756000	0.94617	0.655000	0.94253	CCC		0.373	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		23	24	0	0	0	1	0	23	24				
PPARD	5467	broad.mit.edu	37	6	35389701	35389701	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:35389701C>G	ENST00000311565.4	+	6	739	c.390C>G	c.(388-390)ttC>ttG	p.F130L	PPARD_ENST00000540939.1_Missense_Mutation_p.F27L|PPARD_ENST00000444397.1_Missense_Mutation_p.F130L|PPARD_ENST00000448077.2_Missense_Mutation_p.F91L|PPARD_ENST00000360694.3_Missense_Mutation_p.F130L|PPARD_ENST00000337400.2_Missense_Mutation_p.F130L|PPARD_ENST00000418635.2_Intron	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	130					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	ACTGCCGCTTCCAGAAGTGCC	0.572																																						ENST00000311565.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(388-390)ttC>ttG		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						67.0	62.0	64.0					6																	35389701		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35389701C>G	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.390C>G	6.37:g.35389701C>G	ENSP00000310928:p.Phe130Leu					PPARD_ENST00000360694.3_Missense_Mutation_p.F130L|PPARD_ENST00000448077.2_Missense_Mutation_p.F91L|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000444397.1_Missense_Mutation_p.F130L|PPARD_ENST00000540939.1_Missense_Mutation_p.F27L|PPARD_ENST00000337400.2_Missense_Mutation_p.F130L	p.F130L	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			6	739	+			130					A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.390C>G	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109569	0.56398	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04;-4.04	4.5	3.54	0.40534	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.93180	0.7828	N	0.16066	0.365	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.993	D;D;D	0.83275	0.995;0.996;0.978	D	0.90894	0.4763	10	0.22706	T	0.39	.	10.6679	0.45741	0.0:0.8445:0.0:0.1555	.	91;130;130	B7Z3W1;Q03181;F1D8S7	.;PPARD_HUMAN;.	L	91;130;130;130;130;27	ENSP00000414372:F91L;ENSP00000353916:F130L;ENSP00000410837:F130L;ENSP00000310928:F130L;ENSP00000337063:F130L;ENSP00000443759:F27L	ENSP00000310928:F130L	F	+	3	2	PPARD	35497679	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.564000	0.45931	2.325000	0.78763	0.561000	0.74099	TTC		0.572	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		8	47	0	0	0	1	0	8	47				
BEX5	340542	broad.mit.edu	37	X	101408955	101408955	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chrX:101408955T>A	ENST00000543160.1	-	3	584	c.283A>T	c.(283-285)Ata>Tta	p.I95L	BEX5_ENST00000484837.1_5'Flank|BEX5_ENST00000333643.3_Missense_Mutation_p.I95L	NM_001159560.1	NP_001153032.1	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	95						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						GGGTCCCCTATAAGAATGCGC	0.418																																						ENST00000543160.1																			0				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(283-285)Ata>Tta		brain expressed, X-linked 5							257.0	195.0	216.0					X																	101408955		2203	4300	6503	SO:0001583	missense	340542					cytoplasm		g.chrX:101408955T>A	BC042818	CCDS35350.1	Xq22.1	2014-03-21	2008-11-04	2007-08-24	ENSG00000184515	ENSG00000184515			27990	protein-coding gene	gene with protein product		300693	"""NGFRAP1-like 1"", ""BEX family member 5"""	NGFRAP1L1		16221301	Standard	NM_001012978		Approved		uc004eir.3	Q5H9J7	OTTHUMG00000022049	ENST00000543160.1:c.283A>T	X.37:g.101408955T>A	ENSP00000446054:p.Ile95Leu					BEX5_ENST00000333643.3_Missense_Mutation_p.I95L	p.I95L	NM_001159560.1	NP_001153032.1	Q5H9J7	BEX5_HUMAN			3	584	-			95					Q569J0|Q56A74	Missense_Mutation	SNP	ENST00000543160.1	37	c.283A>T	CCDS35350.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808001	0.70797	.	.	ENSG00000184515	ENST00000543160;ENST00000333643	T;T	0.16897	2.31;2.31	3.76	3.76	0.43208	.	0.000000	0.38005	N	0.001845	T	0.24236	0.0587	M	0.63428	1.95	0.24162	N	0.995651	P	0.42010	0.768	P	0.48114	0.567	T	0.05599	-1.0875	10	0.52906	T	0.07	.	8.0854	0.30769	0.0:0.0:0.0:1.0	.	95	Q5H9J7	BEX5_HUMAN	L	95	ENSP00000446054:I95L;ENSP00000328030:I95L	ENSP00000328030:I95L	I	-	1	0	BEX5	101295611	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.168000	0.42424	1.725000	0.51514	0.441000	0.28932	ATA		0.418	BEX5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057607.1	XM_291335		29	5	0	0	0	1	0	29	5				
TTN	7273	broad.mit.edu	37	2	179582909	179582909	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:179582909G>T	ENST00000591111.1	-	84	24097	c.23873C>A	c.(23872-23874)gCa>gAa	p.A7958E	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A8275E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A7031E			Q8WZ42	TITIN_HUMAN	titin	12151	Ig-like 62.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAATGACTGCTTCCACATG	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(24823-24825)gCa>gAa		titin							81.0	76.0	78.0					2																	179582909		1916	4135	6051	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582909G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23873C>A	2.37:g.179582909G>T	ENSP00000465570:p.Ala7958Glu					TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A7031E|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7958E|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.A8275E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		86	25048	-			7958			Ig-like 65.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.24824C>A		.	.	.	.	.	.	.	.	.	.	G	10.59	1.393911	0.25205	.	.	ENSG00000155657	ENST00000342992	T	0.69806	-0.43	6.16	4.16	0.48862	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72558	0.3475	M	0.69185	2.1	0.80722	D	1	D	0.61697	0.99	P	0.60173	0.87	T	0.74399	-0.3678	9	0.87932	D	0	.	4.3518	0.11158	0.4194:0.0:0.5806:0.0	.	7958	Q8WZ42	TITIN_HUMAN	E	7031	ENSP00000343764:A7031E	ENSP00000343764:A7031E	A	-	2	0	TTN	179291154	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.100000	0.71473	1.623000	0.50342	0.650000	0.86243	GCA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	31	1	0	8.16721e-17	1	9.59647e-17	32	31				
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr17:7578271T>A	ENST00000269305.4	-	6	767	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L	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	193	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 LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		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"""		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM083194|CM951225	TP53	M		c.(577-579)cAt>cTt	Other conserved DNA damage response genes	tumor protein p53							97.0	87.0	90.0					17																	7578271		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.chr17:7578271T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>T	17.37:g.7578271T>A	ENSP00000269305:p.His193Leu	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_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L	p.H193L	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)	6	710	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		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 LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.578A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.752987	0.49362	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99864	0.9936	M	0.92738	3.34	0.58432	D	0.999998	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	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97204	0.9866	10	0.87932	D	0	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193L;ENSP00000352610:H193L;ENSP00000269305:H193L;ENSP00000398846:H193L;ENSP00000391127:H193L;ENSP00000391478:H193L;ENSP00000425104:H61L;ENSP00000423862:H100L	ENSP00000269305:H193L	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	15	0	0	0	1	0	33	15				
CHMP2A	27243	broad.mit.edu	37	19	59063292	59063292	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr19:59063292G>T	ENST00000600118.1	-	4	947	c.522C>A	c.(520-522)agC>agA	p.S174R	CHMP2A_ENST00000601220.1_Missense_Mutation_p.S174R|CHMP2A_ENST00000312547.2_Missense_Mutation_p.S174R			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	174	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CATCTGTTAGGCTAAGTCCCA	0.562																																						ENST00000600118.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7						c.(520-522)agC>agA		charged multivesicular body protein 2A							150.0	128.0	136.0					19																	59063292		2203	4300	6503	SO:0001583	missense	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063292G>T	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.522C>A	19.37:g.59063292G>T	ENSP00000469240:p.Ser174Arg					CHMP2A_ENST00000601220.1_Missense_Mutation_p.S174R|CHMP2A_ENST00000312547.2_Missense_Mutation_p.S174R	p.S174R			O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	4	947	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	174			Interaction with VPS4B.		B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	c.522C>A	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607468	0.46527	.	.	ENSG00000130724	ENST00000312547	T	0.72394	-0.65	4.74	3.7	0.42460	.	0.148111	0.64402	D	0.000011	T	0.54565	0.1866	N	0.16368	0.405	0.40231	D	0.977842	B	0.31174	0.311	B	0.36335	0.222	T	0.58555	-0.7616	10	0.87932	D	0	.	7.328	0.26566	0.1944:0.0:0.8056:0.0	.	174	O43633	CHM2A_HUMAN	R	174	ENSP00000310440:S174R	ENSP00000310440:S174R	S	-	3	2	CHMP2A	63755104	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.560000	0.45896	1.375000	0.46248	0.650000	0.86243	AGC		0.562	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		25	39	1	0	1.77063e-15	1	2.05481e-15	25	39				
KRT34	3885	broad.mit.edu	37	17	39535858	39535858	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr17:39535858A>C	ENST00000394001.1	-	4	870	c.840T>G	c.(838-840)atT>atG	p.I280M		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	280	Coil 2.|Rod.		I -> T (in dbSNP:rs2239710). {ECO:0000269|PubMed:15489334}.		epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CCCTGCGGTTAATTTCCACCA	0.607																																						ENST00000394001.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(838-840)atT>atG		keratin 34							126.0	98.0	107.0					17																	39535858		2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39535858A>C	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.840T>G	17.37:g.39535858A>C	ENSP00000377570:p.Ile280Met						p.I280M	NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN			4	870	-		Breast(137;0.000496)	280		I -> T (in dbSNP:rs2239710).	Coil 2.|Rod.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.840T>G	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	g	10.82	1.459119	0.26248	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	4.6	4.6	0.57074	Filament (1);	0.093789	0.47093	D	0.000259	T	0.24314	0.0589	N	0.12182	0.205	0.20873	N	0.999833	B	0.22983	0.078	B	0.20955	0.032	T	0.18999	-1.0319	9	0.87932	D	0	.	7.903	0.29746	0.0916:0.2706:0.6379:0.0	.	280	O76011	KRT34_HUMAN	M	238;280	.	ENSP00000251648:I280M	I	-	3	3	KRT34	36789384	1.000000	0.71417	1.000000	0.80357	0.255000	0.26057	1.336000	0.33850	1.064000	0.40671	-0.176000	0.13171	ATT		0.607	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		17	40	0	0	0	1	0	17	40				
DPY19L2P1	554236	broad.mit.edu	37	7	35144299	35144299	+	RNA	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:35144299G>A	ENST00000436258.1	-	0	1767							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CATGTGCAGCGTCAAAAACAT	0.358																																						ENST00000436258.1																			0																																																			554236							g.chr7:35144299G>A	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35144299G>A														0	1767	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.358	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			29	37	0	0	0	1	0	29	37				
ERAP2	64167	broad.mit.edu	37	5	96215743	96215743	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:96215743G>A	ENST00000437043.3	+	2	1065	c.354G>A	c.(352-354)acG>acA	p.T118T	ERAP2_ENST00000379904.4_Silent_p.T118T|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Silent_p.T118T	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	118					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTGAAATCACGAATGCCACCC	0.428																																						ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(352-354)acG>acA		endoplasmic reticulum aminopeptidase 2							75.0	68.0	71.0					5																	96215743		2203	4300	6503	SO:0001819	synonymous_variant	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96215743G>A	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.354G>A	5.37:g.96215743G>A						CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Silent_p.T118T|ERAP2_ENST00000379904.4_Silent_p.T118T	p.T118T	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	2	1065	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	118					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Silent	SNP	ENST00000437043.3	37	c.354G>A	CCDS4086.1																																																																																				0.428	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		3	30	0	0	0	1	0	3	30				
CGN	57530	broad.mit.edu	37	1	151491044	151491044	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:151491044G>A	ENST00000271636.7	+	2	182	c.49G>A	c.(49-51)Gga>Aga	p.G17R		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	11	Head.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGTAGACCATGGAGTCCAGAT	0.552																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(49-51)Gga>Aga		cingulin							82.0	78.0	79.0					1																	151491044		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491044G>A	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.49G>A	1.37:g.151491044G>A	ENSP00000271636:p.Gly17Arg						p.G17R	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	182	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		11			Head.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.49G>A	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060256	0.93846	.	.	ENSG00000143375	ENST00000505188;ENST00000502442;ENST00000427934;ENST00000271636	T;D	0.86366	-1.03;-2.11	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.91815	0.7410	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92216	0.5780	10	0.87932	D	0	-18.7327	17.2841	0.87136	0.0:0.0:1.0:0.0	.	11	Q9P2M7	CING_HUMAN	R	17	ENSP00000410836:G17R;ENSP00000271636:G17R	ENSP00000271636:G17R	G	+	1	0	CGN	149757668	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.885000	0.92439	2.749000	0.94314	0.655000	0.94253	GGA		0.552	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		18	169	0	0	0	1	0	18	169				
TMEM132D	121256	broad.mit.edu	37	12	129822360	129822360	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr12:129822360G>A	ENST00000422113.2	-	4	1444	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	373					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGCGCCATCCGCACTGGAGAG	0.592																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1117-1119)gCg>gTg		transmembrane protein 132D							76.0	72.0	73.0					12																	129822360		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129822360G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1118C>T	12.37:g.129822360G>A	ENSP00000408581:p.Ala373Val						p.A373V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	4	1444	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	373					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1118C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	7.293	0.611470	0.14066	.	.	ENSG00000151952	ENST00000422113	T	0.13657	2.57	5.15	-9.46	0.00597	.	1.098670	0.06965	N	0.817048	T	0.05547	0.0146	N	0.05230	-0.09	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44251	-0.9340	9	.	.	.	-7.6336	13.872	0.63624	0.2209:0.0943:0.6848:0.0	.	373	Q14C87	T132D_HUMAN	V	373	ENSP00000408581:A373V	.	A	-	2	0	TMEM132D	128388313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.065000	0.11617	-2.151000	0.00795	-0.889000	0.02933	GCG		0.592	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		53	64	0	0	0	1	0	53	64				
CLNS1A	1207	broad.mit.edu	37	11	77336807	77336807	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:77336807C>T	ENST00000525428.1	-	3	409	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	CLNS1A_ENST00000263309.3_Intron|CLNS1A_ENST00000532069.1_Intron|CLNS1A_ENST00000528364.1_Missense_Mutation_p.E107K|CLNS1A_ENST00000525064.1_Missense_Mutation_p.E107K	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	107					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GTAATAGGTTCAACATCATCA	0.333																																						ENST00000525428.1																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(319-321)Gaa>Aaa		chloride channel, nucleotide-sensitive, 1A							142.0	116.0	125.0					11																	77336807		2200	4292	6492	SO:0001583	missense	1207				blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding	g.chr11:77336807C>T	U17899	CCDS8252.1	11q13.5-q14	2008-05-02							2080	protein-coding gene	gene with protein product		602158		CLCI		7887970, 8975725	Standard	NM_001293		Approved	ICln	uc001oyk.3	P54105		ENST00000525428.1:c.319G>A	11.37:g.77336807C>T	ENSP00000433919:p.Glu107Lys					CLNS1A_ENST00000528364.1_Missense_Mutation_p.E107K|CLNS1A_ENST00000525064.1_Missense_Mutation_p.E107K|CLNS1A_ENST00000263309.3_Intron|CLNS1A_ENST00000532069.1_Intron	p.E107K	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)		3	409	-	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		107					B2RCS9|Q0VDK6|Q9NRD2|Q9NRD3	Missense_Mutation	SNP	ENST00000525428.1	37	c.319G>A	CCDS8252.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961914	0.92791	.	.	ENSG00000074201	ENST00000525428;ENST00000525064;ENST00000528364	T;T;T	0.33654	1.4;1.42;1.4	4.82	4.82	0.62117	.	0.165833	0.51477	D	0.000097	T	0.59756	0.2217	M	0.82323	2.585	0.58432	D	0.999999	D	0.58970	0.984	P	0.60173	0.87	T	0.60244	-0.7301	10	0.27082	T	0.32	-11.4347	18.3344	0.90282	0.0:1.0:0.0:0.0	.	107	P54105	ICLN_HUMAN	K	107	ENSP00000433919:E107K;ENSP00000433741:E107K;ENSP00000434311:E107K	ENSP00000433741:E107K	E	-	1	0	CLNS1A	77014455	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.194000	0.65125	2.401000	0.81631	0.460000	0.39030	GAA		0.333	CLNS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382156.2	NM_001293		6	77	0	0	0	1	0	6	77				
RFX3	5991	broad.mit.edu	37	9	3248121	3248121	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr9:3248121G>A	ENST00000382004.3	-	16	2190	c.1879C>T	c.(1879-1881)Cgt>Tgt	p.R627C	RFX3_ENST00000358730.2_Missense_Mutation_p.R627C|RFX3_ENST00000302303.1_Missense_Mutation_p.R627C	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	627					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TAGAGTAGACGGATCAGGTGG	0.458																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1879-1881)Cgt>Tgt		regulatory factor X, 3 (influences HLA class II expression)							72.0	67.0	69.0					9																	3248121		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3248121G>A	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1879C>T	9.37:g.3248121G>A	ENSP00000371434:p.Arg627Cys					RFX3_ENST00000358730.2_Missense_Mutation_p.R627C|RFX3_ENST00000302303.1_Missense_Mutation_p.R627C	p.R627C	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	16	2190	-			627					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.1879C>T	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255008	0.95336	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000449234;ENST00000381986	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.77	5.77	0.91146	.	0.062421	0.64402	D	0.000001	T	0.73999	0.3659	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.79354	-0.1838	10	0.87932	D	0	-10.3478	19.9926	0.97371	0.0:0.0:1.0:0.0	.	627;627	P48380-2;P48380	.;RFX3_HUMAN	C	627;627;627;92;106	ENSP00000371434:R627C;ENSP00000351574:R627C;ENSP00000303847:R627C;ENSP00000415594:R92C	ENSP00000303847:R627C	R	-	1	0	RFX3	3238121	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.790000	0.99075	2.729000	0.93468	0.467000	0.42956	CGT		0.458	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		10	24	0	0	0	1	0	10	24				
TTLL1	25809	broad.mit.edu	37	22	43455461	43455461	+	Missense_Mutation	SNP	C	C	A	rs566960165		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr22:43455461C>A	ENST00000266254.7	-	8	1060	c.820G>T	c.(820-822)Ggc>Tgc	p.G274C	TTLL1_ENST00000331018.7_Missense_Mutation_p.G274C	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	274	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACCTCCTTGCCGCGGGTGCTC	0.632																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(820-822)Ggc>Tgc		tubulin tyrosine ligase-like family, member 1							100.0	75.0	84.0					22																	43455461		2203	4300	6503	SO:0001583	missense	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43455461C>A	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.820G>T	22.37:g.43455461C>A	ENSP00000266254:p.Gly274Cys					TTLL1_ENST00000266254.7_Missense_Mutation_p.G274C	p.G274C			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	8	1060	-		Ovarian(80;0.0694)	274			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	c.820G>T	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815003	0.90790	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.05996	3.36;3.36	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62421	-0.6858	10	0.54805	T	0.06	.	18.9803	0.92752	0.0:1.0:0.0:0.0	.	274;274	O95922-4;O95922	.;TTLL1_HUMAN	C	274	ENSP00000333734:G274C;ENSP00000266254:G274C	ENSP00000266254:G274C	G	-	1	0	TTLL1	41785405	1.000000	0.71417	0.807000	0.32361	0.950000	0.60333	7.754000	0.85163	2.496000	0.84212	0.561000	0.74099	GGC		0.632	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		7	32	1	0	2.0095e-06	1	2.09881e-06	7	32				
PPME1	51400	broad.mit.edu	37	11	73950277	73950277	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:73950277G>C	ENST00000328257.8	+	9	1133	c.810G>C	c.(808-810)aaG>aaC	p.K270N	PPME1_ENST00000398427.4_Missense_Mutation_p.K270N|P4HA3_ENST00000540363.1_Intron|PPME1_ENST00000543525.1_Missense_Mutation_p.K83N			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	270					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					CTATAAGCAAGAGGAAAAAGG	0.418																																						ENST00000328257.8																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(808-810)aaG>aaC		protein phosphatase methylesterase 1							119.0	120.0	119.0					11																	73950277		1911	4110	6021	SO:0001583	missense	51400				protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	g.chr11:73950277G>C		CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.810G>C	11.37:g.73950277G>C	ENSP00000329867:p.Lys270Asn					PPME1_ENST00000398427.4_Missense_Mutation_p.K270N|PPME1_ENST00000543525.1_Missense_Mutation_p.K83N|P4HA3_ENST00000540363.1_Intron	p.K270N			Q9Y570	PPME1_HUMAN			9	1133	+	Breast(11;3.29e-05)		270					B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Missense_Mutation	SNP	ENST00000328257.8	37	c.810G>C	CCDS44678.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462168	0.26248	.	.	ENSG00000214517	ENST00000328257;ENST00000398427;ENST00000543525	T;T	0.67865	-0.25;-0.29	5.59	1.1	0.20463	.	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	L	0.47716	1.5	0.80722	D	1	B;B	0.13145	0.006;0.007	B;B	0.14578	0.003;0.011	T	0.29579	-1.0007	10	0.13470	T	0.59	-13.1522	7.7297	0.28779	0.4963:0.0:0.5037:0.0	.	83;270	Q9Y570-2;Q9Y570	.;PPME1_HUMAN	N	270;270;83	ENSP00000329867:K270N;ENSP00000381461:K270N	ENSP00000329867:K270N	K	+	3	2	PPME1	73627925	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.992000	0.40737	0.326000	0.23384	0.655000	0.94253	AAG		0.418	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398254.1	NM_016147		8	67	0	0	0	1	0	8	67				
RB1	5925	broad.mit.edu	37	13	49033843	49033843	+	Silent	SNP	C	C	T	rs121913299		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr13:49033843C>T	ENST00000267163.4	+	20	2118	c.1980C>T	c.(1978-1980)ctC>ctT	p.L660L		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	660	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.L660fs*2(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TAGCCTATCTCCGGCTAAATA	0.388		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		29	Whole gene deletion(15)|Unknown(11)|Deletion - Frameshift(3)	p.0?(15)|p.?(11)|p.L660fs*2(3)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1978-1980)ctC>ctT		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						76.0	81.0	79.0					13																	49033843		2203	4300	6503	SO:0001819	synonymous_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49033843C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1980C>T	13.37:g.49033843C>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.L660L	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	20	2118	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	660			Domain B.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	c.1980C>T	CCDS31973.1																																																																																				0.388	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			41	51	0	0	0	1	0	41	51				
PLOD1	5351	broad.mit.edu	37	1	12017907	12017907	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:12017907G>C	ENST00000196061.4	+	8	777	c.750G>C	c.(748-750)ttG>ttC	p.L250F	PLOD1_ENST00000376369.3_Missense_Mutation_p.L297F|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	250					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	AGCTGCAGTTGAACTACCTGG	0.627																																						ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(748-750)ttG>ttC		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						130.0	122.0	125.0					1																	12017907		2203	4300	6503	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12017907G>C	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.750G>C	1.37:g.12017907G>C	ENSP00000196061:p.Leu250Phe					PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.L297F	p.L250F	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	8	777	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	250					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.750G>C	CCDS142.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728139	0.69074	.	.	ENSG00000083444	ENST00000376369;ENST00000429000;ENST00000196061	T;T;T	0.76060	-0.99;0.91;-0.96	4.69	3.75	0.43078	.	0.230778	0.35555	N	0.003122	T	0.76779	0.4035	M	0.71871	2.18	0.54753	D	0.999985	P;P	0.49253	0.921;0.679	P;P	0.47015	0.534;0.448	T	0.79393	-0.1822	10	0.56958	D	0.05	.	13.7191	0.62717	0.0:0.1555:0.8445:0.0	.	297;250	B4DR87;Q02809	.;PLOD1_HUMAN	F	297;252;250	ENSP00000365548:L297F;ENSP00000405372:L252F;ENSP00000196061:L250F	ENSP00000196061:L250F	L	+	3	2	PLOD1	11940494	0.997000	0.39634	1.000000	0.80357	0.959000	0.62525	0.369000	0.20416	1.144000	0.42321	0.561000	0.74099	TTG		0.627	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		27	132	0	0	0	1	0	27	132				
AGL	178	broad.mit.edu	37	1	100330084	100330084	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:100330084G>A	ENST00000294724.4	+	5	1081	c.603G>A	c.(601-603)gtG>gtA	p.V201V	AGL_ENST00000361302.3_Silent_p.V185V|AGL_ENST00000370165.3_Silent_p.V201V|AGL_ENST00000370161.2_Silent_p.V185V|AGL_ENST00000361522.4_Silent_p.V184V|AGL_ENST00000361915.3_Silent_p.V201V|AGL_ENST00000370163.3_Silent_p.V201V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	201					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GACAGCTAGTGGAAAAATTAA	0.343																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(601-603)gtG>gtA		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							131.0	132.0	132.0					1																	100330084		2203	4300	6503	SO:0001819	synonymous_variant	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100330084G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.603G>A	1.37:g.100330084G>A						AGL_ENST00000370163.3_Silent_p.V201V|AGL_ENST00000370161.2_Silent_p.V185V|AGL_ENST00000361522.4_Silent_p.V184V|AGL_ENST00000361915.3_Silent_p.V201V|AGL_ENST00000361302.3_Silent_p.V185V|AGL_ENST00000370165.3_Silent_p.V201V	p.V201V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	5	1081	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	201					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	37	c.603G>A	CCDS759.1																																																																																				0.343	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		20	45	0	0	0	1	0	20	45				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					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)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			154754							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	28	0	0	0	1	0	3	28				
PKD2L1	9033	broad.mit.edu	37	10	102048764	102048764	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr10:102048764G>T	ENST00000318222.3	-	15	2682	c.2300C>A	c.(2299-2301)cCa>cAa	p.P767Q	BLOC1S2_ENST00000361832.2_5'Flank|BLOC1S2_ENST00000441611.1_5'Flank|PKD2L1_ENST00000338519.3_Missense_Mutation_p.P692Q|PKD2L1_ENST00000353274.3_Intron|BLOC1S2_ENST00000370372.2_5'Flank	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	767					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCAGGGGTCTGGGGTCACAGC	0.572																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2299-2301)cCa>cAa		polycystic kidney disease 2-like 1							47.0	51.0	50.0					10																	102048764		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102048764G>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2300C>A	10.37:g.102048764G>T	ENSP00000325296:p.Pro767Gln					PKD2L1_ENST00000338519.3_Missense_Mutation_p.P692Q|PKD2L1_ENST00000353274.3_Intron	p.P767Q	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	15	2682	-		Colorectal(252;0.117)	767					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.2300C>A	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665792	0.67700	.	.	ENSG00000107593	ENST00000338519;ENST00000318222;ENST00000339977	T;T	0.58652	0.44;0.32	4.28	2.44	0.29823	.	0.455803	0.20471	N	0.091700	T	0.49525	0.1562	L	0.36672	1.1	0.09310	N	0.999991	P;P	0.48407	0.91;0.91	P;P	0.47470	0.548;0.548	T	0.41124	-0.9526	10	0.87932	D	0	-0.0966	6.758	0.23524	0.2106:0.0:0.7894:0.0	.	720;767	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	Q	692;767;765	ENSP00000345068:P692Q;ENSP00000325296:P767Q	ENSP00000325296:P767Q	P	-	2	0	PKD2L1	102038754	0.980000	0.34600	0.072000	0.20136	0.826000	0.46750	0.762000	0.26503	0.766000	0.33244	-0.350000	0.07774	CCA		0.572	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		11	10	1	0	1.05317e-09	1	1.13791e-09	11	10				
GTF2A1	2957	broad.mit.edu	37	14	81658906	81658906	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr14:81658906T>A	ENST00000553612.1	-	7	1293	c.890A>T	c.(889-891)gAa>gTa	p.E297V	GTF2A1_ENST00000434192.2_Missense_Mutation_p.E258V	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	297					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		ctctttgtcttcctcctcatc	0.368																																						ENST00000553612.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12						c.(889-891)gAa>gTa		general transcription factor IIA, 1, 19/37kDa							157.0	139.0	145.0					14																	81658906		2203	4300	6503	SO:0001583	missense	2957				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr14:81658906T>A	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.890A>T	14.37:g.81658906T>A	ENSP00000452454:p.Glu297Val					GTF2A1_ENST00000434192.2_Missense_Mutation_p.E258V	p.E297V	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0287)	7	1293	-			297					Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	37	c.890A>T	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.332914	0.60853	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.18502	2.21;2.21	5.26	5.26	0.73747	.	0.250440	0.45126	D	0.000397	T	0.27524	0.0676	M	0.66378	2.025	0.58432	D	0.999998	P	0.41131	0.739	P	0.44946	0.465	T	0.01956	-1.1240	10	0.46703	T	0.11	-21.8109	15.156	0.72743	0.0:0.0:0.0:1.0	.	297	P52655	TF2AA_HUMAN	V	297;258;258	ENSP00000452454:E297V;ENSP00000409492:E258V	ENSP00000298173:E297V	E	-	2	0	GTF2A1	80728659	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.547000	0.73892	2.114000	0.64651	0.459000	0.35465	GAA		0.368	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		43	147	0	0	0	1	0	43	147				
IL17RC	84818	broad.mit.edu	37	3	9959311	9959311	+	Silent	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:9959311G>A	ENST00000295981.3	+	1	530	c.312G>A	c.(310-312)caG>caA	p.Q104Q	IL17RC_ENST00000498214.1_Intron|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000403601.3_Intron|IL17RC_ENST00000383812.4_Intron|IL17RC_ENST00000455057.1_Intron|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000413608.1_Intron	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	104					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CGGAGCCCCAGAAAAAGGTAG	0.557																																						ENST00000295981.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(310-312)caG>caA		interleukin 17 receptor C							137.0	144.0	142.0					3																	9959311		2203	4300	6503	SO:0001819	synonymous_variant	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9959311G>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.312G>A	3.37:g.9959311G>A						IL17RC_ENST00000403601.3_Intron|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000413608.1_Intron|IL17RC_ENST00000455057.1_Intron|IL17RC_ENST00000383812.4_Intron	p.Q104Q	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			1	530	+			104					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	ENST00000295981.3	37	c.312G>A	CCDS2590.1																																																																																				0.557	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		4	107	0	0	0	1	0	4	107				
SCNN1D	6339	broad.mit.edu	37	1	1226052	1226052	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:1226052G>A	ENST00000338555.2	+	12	2547	c.1403G>A	c.(1402-1404)aGg>aAg	p.R468K	SCNN1D_ENST00000325425.8_Missense_Mutation_p.R534K|SCNN1D_ENST00000379116.5_Missense_Mutation_p.R632K|SCNN1D_ENST00000400928.3_Missense_Mutation_p.R468K			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	468					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	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)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	GGGACCTCCAGGTGGCCTTCC	0.647																																						ENST00000338555.2																			0				lung(6)|skin(1)	7						c.(1402-1404)aGg>aAg		sodium channel, non-voltage-gated 1, delta subunit							52.0	52.0	52.0					1																	1226052		2188	4288	6476	SO:0001583	missense	6339							g.chr1:1226052G>A	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1403G>A	1.37:g.1226052G>A	ENSP00000339504:p.Arg468Lys					SCNN1D_ENST00000379116.5_Missense_Mutation_p.R632K|SCNN1D_ENST00000400928.3_Missense_Mutation_p.R468K|SCNN1D_ENST00000325425.8_Missense_Mutation_p.R534K	p.R468K						Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	12	2547	+	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)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37	c.1403G>A		.	.	.	.	.	.	.	.	.	.	G	8.541	0.873166	0.17322	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	3.88	1.56	0.23342	.	0.262618	0.24725	U	0.036102	T	0.40297	0.1111	L	0.43152	1.355	0.20307	N	0.999916	B;B;B	0.28470	0.095;0.213;0.002	B;B;B	0.32149	0.141;0.124;0.004	T	0.06092	-1.0846	10	0.16420	T	0.52	.	2.6828	0.05099	0.2255:0.3105:0.464:0.0	.	290;468;632	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	K	499;632;468;534;468	ENSP00000368411:R632K;ENSP00000339504:R468K;ENSP00000321594:R534K;ENSP00000383717:R468K	ENSP00000321594:R534K	R	+	2	0	SCNN1D	1215915	0.000000	0.05858	1.000000	0.80357	0.685000	0.39939	-0.059000	0.11731	1.726000	0.51525	0.306000	0.20318	AGG		0.647	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		28	34	0	0	0	1	0	28	34				
BPIFB4	149954	broad.mit.edu	37	20	31676772	31676772	+	Splice_Site	SNP	G	G	T	rs149304342		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr20:31676772G>T	ENST00000375483.3	+	6	927	c.927G>T	c.(925-927)ggG>ggT	p.G309G		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	309						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GTCTCCTTAGGCTTCTCCCCA	0.577																																						ENST00000375483.3																			0											c.e6-1		BPI fold containing family B, member 4							171.0	159.0	163.0					20																	31676772		2203	4300	6503	SO:0001630	splice_region_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31676772G>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.927-1G>T	20.37:g.31676772G>T							p.G309_splice	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			6	927	+			309					Q5TDX6	Splice_Site	SNP	ENST00000375483.3	37	c.926_splice	CCDS13213.2																																																																																				0.577	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519	Silent	51	93	1	0	8.01767e-09	1	8.56433e-09	51	93				
TBC1D9	23158	broad.mit.edu	37	4	141598221	141598221	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr4:141598221G>A	ENST00000442267.2	-	6	960	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	296	GRAM 2.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AAAAGTGCACGGTATCTCTCA	0.413																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(886-888)Cgt>Tgt		TBC1 domain family, member 9 (with GRAM domain)							150.0	144.0	146.0					4																	141598221		1910	4141	6051	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141598221G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.886C>T	4.37:g.141598221G>A	ENSP00000411197:p.Arg296Cys						p.R296C	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			6	960	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	296			GRAM 2.		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.886C>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797177	0.90538	.	.	ENSG00000109436	ENST00000442267	D	0.89485	-2.52	5.48	5.48	0.80851	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.95297	0.8474	M	0.90705	3.14	0.80722	D	1	D	0.58620	0.983	D	0.63192	0.912	D	0.95460	0.8542	10	0.56958	D	0.05	-4.4794	19.3898	0.94576	0.0:0.0:1.0:0.0	.	296	Q6ZT07	TBCD9_HUMAN	C	296	ENSP00000411197:R296C	ENSP00000411197:R296C	R	-	1	0	TBC1D9	141817671	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.560000	0.67332	2.579000	0.87056	0.555000	0.69702	CGT		0.413	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		22	42	0	0	0	1	0	22	42				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	84	0	0	0	1	0	4	84				
AKAP9	10142	broad.mit.edu	37	7	91732036	91732036	+	Silent	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:91732036G>C	ENST00000359028.2	+	46	11463	c.11238G>C	c.(11236-11238)cgG>cgC	p.R3746R	AKAP9_ENST00000356239.3_Silent_p.R3742R|AKAP9_ENST00000358100.2_Silent_p.R3692R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3746					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGCTTGCCCGGATGGGGGGGC	0.527			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11236-11238)cgG>cgC		A kinase (PRKA) anchor protein 9							109.0	116.0	113.0					7																	91732036		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91732036G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11238G>C	7.37:g.91732036G>C						AKAP9_ENST00000358100.2_Silent_p.R3692R|AKAP9_ENST00000356239.3_Silent_p.R3742R	p.R3746R			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		46	11463	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3746					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.11238G>C																																																																																					0.527	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		8	131	0	0	0	1	0	8	131				
SNHG14	104472715	broad.mit.edu	37	15	25488649	25488649	+	RNA	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr15:25488649C>A	ENST00000453082.2	+	0	2277				SNORD115-40_ENST00000606510.1_RNA|SNORD115-39_ENST00000363694.1_RNA|SNORD115-41_ENST00000363608.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGCCCAGCCCCTGAGGCGCTG	0.617																																						ENST00000453082.2																			0																																																			104472715							g.chr15:25488649C>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25488649C>A								NR_003343.1						0	2277	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.617	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			17	47	1	0	3.52763e-06	1	3.62402e-06	17	47				
TMX3	54495	broad.mit.edu	37	18	66367685	66367685	+	Nonsense_Mutation	SNP	G	G	A	rs376484673		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr18:66367685G>A	ENST00000299608.2	-	6	665	c.349C>T	c.(349-351)Cga>Tga	p.R117*	TMX3_ENST00000562706.1_Nonsense_Mutation_p.R117*|TMX3_ENST00000443099.2_Intron	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	117	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TCTTTTGTTCGTGGTCCTCTA	0.254																																						ENST00000299608.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(349-351)Cga>Tga		thioredoxin-related transmembrane protein 3		G	stop/ARG	0,4406		0,0,2203	87.0	92.0	90.0		349	2.8	1.0	18		90	1,8571	1.2+/-3.3	0,1,4285	no	stop-gained	TMX3	NM_019022.3		0,1,6488	AA,AG,GG		0.0117,0.0,0.0077		117/455	66367685	1,12977	2203	4286	6489	SO:0001587	stop_gained	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66367685G>A	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.349C>T	18.37:g.66367685G>A	ENSP00000299608:p.Arg117*					TMX3_ENST00000443099.2_Intron|TMX3_ENST00000562706.1_Nonsense_Mutation_p.R117*	p.R117*	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN			6	665	-			117			Thioredoxin.		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Nonsense_Mutation	SNP	ENST00000299608.2	37	c.349C>T	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	G	38	6.643586	0.97730	0.0	1.17E-4	ENSG00000166479	ENST00000299608;ENST00000544714	.	.	.	5.99	2.84	0.33178	.	0.092597	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1236	0.59340	0.0:0.0:0.3339:0.6661	.	.	.	.	X	117	.	ENSP00000299608:R117X	R	-	1	2	TMX3	64518665	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	3.108000	0.50337	0.785000	0.33685	0.591000	0.81541	CGA		0.254	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		26	14	0	0	0	1	0	26	14				
PLOD2	5352	broad.mit.edu	37	3	145838903	145838903	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr3:145838903C>T	ENST00000360060.3	-	3	511	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	PLOD2_ENST00000494950.1_Missense_Mutation_p.E57K|PLOD2_ENST00000282903.5_Missense_Mutation_p.E112K	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	112					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCCTACCATTCAGTAAACATG	0.328																																						ENST00000282903.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(334-336)Gaa>Aaa		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	Vitamin C(DB00126)						129.0	116.0	120.0					3																	145838903		2203	4300	6503	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145838903C>T	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.334G>A	3.37:g.145838903C>T	ENSP00000353170:p.Glu112Lys					PLOD2_ENST00000494950.1_Missense_Mutation_p.E57K|PLOD2_ENST00000360060.3_Missense_Mutation_p.E112K	p.E112K	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN			3	511	-			112					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.334G>A	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511001	0.27036	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950;ENST00000469350	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.18	3.29	0.37713	.	0.104886	0.64402	D	0.000004	T	0.22126	0.0533	L	0.38175	1.15	0.43734	D	0.996224	B;B;B	0.30193	0.055;0.077;0.272	B;B;B	0.35182	0.033;0.066;0.197	T	0.19353	-1.0308	10	0.87932	D	0	.	16.5973	0.84800	0.0:0.7389:0.2611:0.0	.	57;112;112	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	K	112;112;57;84	ENSP00000282903:E112K;ENSP00000353170:E112K;ENSP00000420094:E57K;ENSP00000419963:E84K	ENSP00000282903:E112K	E	-	1	0	PLOD2	147321593	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	3.610000	0.54125	1.399000	0.46721	-0.293000	0.09583	GAA		0.328	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		10	59	0	0	0	1	0	10	59				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			201283							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		7	84	0	0	0	1	0	7	84				
EPHA8	2046	broad.mit.edu	37	1	22927807	22927807	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:22927807C>T	ENST00000166244.3	+	16	2816	c.2744C>T	c.(2743-2745)gCc>gTc	p.A915V		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	915					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCACCCCCTGCCTTCGTCCGG	0.687																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2743-2745)gCc>gTc		EPH receptor A8							36.0	43.0	40.0					1																	22927807		2181	4227	6408	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927807C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2744C>T	1.37:g.22927807C>T	ENSP00000166244:p.Ala915Val						p.A915V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	16	2816	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	915					Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2744C>T	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827423	0.32329	.	.	ENSG00000070886	ENST00000166244	T	0.73469	-0.75	5.08	3.19	0.36642	Protein kinase-like domain (1);	0.488841	0.19792	N	0.105953	T	0.47525	0.1450	N	0.08118	0	0.80722	D	1	B	0.26318	0.146	B	0.19666	0.026	T	0.21895	-1.0232	10	0.20046	T	0.44	.	5.2077	0.15299	0.0:0.6508:0.1703:0.1788	.	915	P29322	EPHA8_HUMAN	V	915	ENSP00000166244:A915V	ENSP00000166244:A915V	A	+	2	0	EPHA8	22800394	0.391000	0.25221	0.746000	0.31095	0.801000	0.45260	1.337000	0.33862	0.719000	0.32188	0.491000	0.48974	GCC		0.687	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		36	49	0	0	0	1	0	36	49				
SLC43A3	29015	broad.mit.edu	37	11	57185237	57185237	+	Missense_Mutation	SNP	G	G	T	rs372592462	byFrequency	TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:57185237G>T	ENST00000395123.2	-	8	959	c.655C>A	c.(655-657)Ccc>Acc	p.P219T	SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Missense_Mutation_p.P232T|SLC43A3_ENST00000395124.1_Missense_Mutation_p.P219T|SLC43A3_ENST00000352187.1_Missense_Mutation_p.P219T|SLC43A3_ENST00000529554.1_Missense_Mutation_p.P219T	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	219					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CTGTAGTTGGGGGGCAGTGGG	0.572																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(655-657)Ccc>Acc		solute carrier family 43, member 3							77.0	74.0	75.0					11																	57185237		2201	4296	6497	SO:0001583	missense	29015				transmembrane transport	integral to membrane		g.chr11:57185237G>T	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.655C>A	11.37:g.57185237G>T	ENSP00000378555:p.Pro219Thr					SLC43A3_ENST00000529554.1_Missense_Mutation_p.P219T|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Missense_Mutation_p.P219T|SLC43A3_ENST00000352187.1_Missense_Mutation_p.P219T|SLC43A3_ENST00000533524.1_Missense_Mutation_p.P232T	p.P219T	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			8	959	-			219					B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	c.655C>A	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560680	0.45590	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005	T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;1.59	5.48	0.815	0.18763	Major facilitator superfamily domain, general substrate transporter (1);	0.783813	0.11931	N	0.515715	T	0.67850	0.2937	L	0.35414	1.06	0.09310	N	0.999999	P;B;B;B	0.39282	0.666;0.434;0.434;0.24	B;B;B;B	0.39771	0.164;0.309;0.309;0.216	T	0.53844	-0.8381	10	0.14252	T	0.57	-23.307	8.0528	0.30587	0.1553:0.2446:0.6001:0.0	.	219;232;219;219	B4DV87;E7EQD2;Q8NBI5;A8K2X6	.;.;S43A3_HUMAN;.	T	219;219;219;219;232;219	ENSP00000378555:P219T;ENSP00000378556:P219T;ENSP00000337561:P219T;ENSP00000436254:P219T;ENSP00000434515:P232T;ENSP00000435893:P219T	ENSP00000337561:P219T	P	-	1	0	SLC43A3	56941813	0.006000	0.16342	0.830000	0.32933	0.954000	0.61252	0.571000	0.23669	0.269000	0.21961	0.462000	0.41574	CCC		0.572	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		18	39	1	0	5.03518e-11	1	5.56832e-11	18	39				
AKAP12	9590	broad.mit.edu	37	6	151674171	151674171	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:151674171C>A	ENST00000253332.1	+	3	4834	c.4645C>A	c.(4645-4647)Ctt>Att	p.L1549I	AKAP12_ENST00000402676.2_Missense_Mutation_p.L1549I|AKAP12_ENST00000354675.6_Missense_Mutation_p.L1451I|AKAP12_ENST00000359755.5_Missense_Mutation_p.L1444I			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1549	RII-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAGCAGTAAACTTGTCCAAAA	0.453																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(4645-4647)Ctt>Att		A kinase (PRKA) anchor protein 12							114.0	116.0	116.0					6																	151674171		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151674171C>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4645C>A	6.37:g.151674171C>A	ENSP00000253332:p.Leu1549Ile					AKAP12_ENST00000253332.1_Missense_Mutation_p.L1549I|AKAP12_ENST00000359755.5_Missense_Mutation_p.L1444I|AKAP12_ENST00000354675.6_Missense_Mutation_p.L1451I	p.L1549I	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	4885	+		Ovarian(120;0.125)	1549			RII-binding (Probable).		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.4645C>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770920	0.31320	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07114	3.22;3.22;3.23;3.23	5.01	-1.23	0.09465	RII binding domain (1);	0.838506	0.09741	N	0.761802	T	0.00998	0.0033	N	0.12182	0.205	0.09310	N	1	B;B;B	0.25272	0.1;0.1;0.122	B;B;B	0.25884	0.038;0.038;0.064	T	0.48581	-0.9023	10	0.23302	T	0.38	.	1.4288	0.02329	0.4701:0.2116:0.0985:0.2198	.	1444;1451;1549	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	I	1549;1549;1451;1444	ENSP00000384537:L1549I;ENSP00000253332:L1549I;ENSP00000346702:L1451I;ENSP00000352794:L1444I	ENSP00000253332:L1549I	L	+	1	0	AKAP12	151715864	0.941000	0.31946	0.002000	0.10522	0.563000	0.35712	1.395000	0.34520	-0.008000	0.14320	0.650000	0.86243	CTT		0.453	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			39	25	1	0	6.97489e-18	1	8.24704e-18	39	25				
PCDHB2	56133	broad.mit.edu	37	5	140474518	140474518	+	Silent	SNP	C	C	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:140474518C>A	ENST00000194155.4	+	1	292	c.144C>A	c.(142-144)gcC>gcA	p.A48A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTTGTGGCCAATTTGTTAA	0.498																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(142-144)gcC>gcA									55.0	62.0	59.0					5																	140474518		2203	4300	6503	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140474518C>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.144C>A	5.37:g.140474518C>A							p.A48A	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	292	+			48			Cadherin 1.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.144C>A	CCDS4244.1																																																																																				0.498	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		33	48	1	0	2.68265e-12	1	3.00201e-12	33	48				
C8orf34	116328	broad.mit.edu	37	8	69552706	69552706	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr8:69552706C>T	ENST00000539993.1	+	8	1492	c.943C>T	c.(943-945)Cag>Tag	p.Q315*	C8orf34_ENST00000337103.4_Nonsense_Mutation_p.Q290*|C8orf34_ENST00000518698.1_Nonsense_Mutation_p.Q401*|C8orf34_ENST00000325233.3_Nonsense_Mutation_p.Q59*			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	315										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGCTGAGCCTCAGGCCAAGGT	0.398																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(868-870)Cag>Tag		chromosome 8 open reading frame 34							91.0	84.0	86.0					8																	69552706		2203	4300	6503	SO:0001587	stop_gained	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69552706C>T	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.943C>T	8.37:g.69552706C>T	ENSP00000438159:p.Gln315*					C8orf34_ENST00000325233.3_Nonsense_Mutation_p.Q59*|C8orf34_ENST00000518698.1_Nonsense_Mutation_p.Q401*|C8orf34_ENST00000539993.1_Nonsense_Mutation_p.Q315*	p.Q290*			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		7	2460	+			315					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Nonsense_Mutation	SNP	ENST00000539993.1	37	c.868C>T		.	.	.	.	.	.	.	.	.	.	C	43	10.381029	0.99394	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.5497	19.3134	0.94202	0.0:1.0:0.0:0.0	.	.	.	.	X	401;315;290;59	.	.	Q	+	1	0	C8orf34	69715260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.433000	0.80362	2.567000	0.86603	0.585000	0.79938	CAG		0.398	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		12	61	0	0	0	1	0	12	61				
HIP1	3092	broad.mit.edu	37	7	75174423	75174423	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr7:75174423C>T	ENST00000336926.6	-	26	2649	c.2623G>A	c.(2623-2625)Gcc>Acc	p.A875T	HIP1_ENST00000434438.2_Missense_Mutation_p.A824T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	875	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.|Important for actin binding. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCTTGGAGGCTGAGATAAGT	0.463			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2623-2625)Gcc>Acc		huntingtin interacting protein 1							125.0	127.0	126.0					7																	75174423		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75174423C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2623G>A	7.37:g.75174423C>T	ENSP00000336747:p.Ala875Thr					HIP1_ENST00000434438.2_Missense_Mutation_p.A824T	p.A875T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			26	2649	-			875			I/LWEQ.|Important for actin binding (By similarity).		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.2623G>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	c	36	5.624223	0.96660	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.59364	0.27;0.27	5.6	5.6	0.85130	I/LWEQ (4);	0.000000	0.85682	D	0.000000	D	0.83783	0.5329	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88392	0.3009	10	0.87932	D	0	-22.8729	18.1669	0.89731	0.0:1.0:0.0:0.0	.	824;875	E7ES17;O00291	.;HIP1_HUMAN	T	875;824	ENSP00000336747:A875T;ENSP00000410300:A824T	ENSP00000336747:A875T	A	-	1	0	HIP1	75012359	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.488000	0.81441	2.644000	0.89710	0.655000	0.94253	GCC		0.463	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		44	92	0	0	0	1	0	44	92				
RALGAPB	57148	broad.mit.edu	37	20	37191317	37191317	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr20:37191317A>G	ENST00000262879.6	+	24	3958	c.3674A>G	c.(3673-3675)gAt>gGt	p.D1225G	RALGAPB_ENST00000397040.1_Missense_Mutation_p.D1225G|RALGAPB_ENST00000397038.1_Missense_Mutation_p.D1003G|RALGAPB_ENST00000397042.3_Missense_Mutation_p.D1221G			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1225	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AATTGTTGTGATGATGGTGAA	0.403																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(3673-3675)gAt>gGt		Ral GTPase activating protein, beta subunit (non-catalytic)							176.0	156.0	163.0					20																	37191317		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37191317A>G	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3674A>G	20.37:g.37191317A>G	ENSP00000262879:p.Asp1225Gly					RALGAPB_ENST00000397038.1_Missense_Mutation_p.D1003G|RALGAPB_ENST00000397042.3_Missense_Mutation_p.D1221G|RALGAPB_ENST00000397040.1_Missense_Mutation_p.D1225G	p.D1225G			Q86X10	RLGPB_HUMAN			24	3958	+			1225			Rap-GAP.		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.3674A>G	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.671763	0.29693	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.8	2.15	0.27550	Rap/ran-GAP (1);	0.339440	0.36444	N	0.002599	T	0.18923	0.0454	N	0.14661	0.345	0.30041	N	0.812634	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10268	-1.0637	9	0.18276	T	0.48	.	3.1013	0.06327	0.375:0.2489:0.3761:0.0	.	1221;1225	A2A2E9;Q86X10	.;RLGPB_HUMAN	G	1225;1221;1003;1225;1053	.	ENSP00000262879:D1225G	D	+	2	0	RALGAPB	36624731	0.818000	0.29161	0.860000	0.33809	0.690000	0.40134	1.324000	0.33712	0.450000	0.26774	-0.360000	0.07572	GAT		0.403	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		32	45	0	0	0	1	0	32	45				
CPSF6	11052	broad.mit.edu	37	12	69656301	69656301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr12:69656301C>T	ENST00000435070.2	+	9	1728	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*	CPSF6_ENST00000456847.3_Nonsense_Mutation_p.R467*|CPSF6_ENST00000266679.8_Nonsense_Mutation_p.R577*|CPSF6_ENST00000551516.1_Silent_p.T42T	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	540	Arg-rich.|Sufficient for nuclear targeting.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			agaccgtgaccgagagcgtga	0.483																																						ENST00000435070.2																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(1618-1620)Cga>Tga		cleavage and polyadenylation specific factor 6, 68kDa							208.0	145.0	167.0					12																	69656301		2203	4300	6503	SO:0001587	stop_gained	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69656301C>T	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1618C>T	12.37:g.69656301C>T	ENSP00000391774:p.Arg540*					CPSF6_ENST00000266679.8_Nonsense_Mutation_p.R577*|CPSF6_ENST00000456847.3_Nonsense_Mutation_p.R467*|CPSF6_ENST00000551516.1_Silent_p.T42T	p.R540*	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		9	1728	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		540			Arg-rich.|Sufficient for nuclear targeting.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Nonsense_Mutation	SNP	ENST00000435070.2	37	c.1618C>T	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	C	37	6.017124	0.97205	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	.	.	.	5.74	3.66	0.41972	.	0.048150	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.9581	12.3457	0.55119	0.5325:0.4675:0.0:0.0	.	.	.	.	X	540;467;577	.	.	R	+	1	2	CPSF6	67942568	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.679000	0.46909	1.563000	0.49615	-0.175000	0.13238	CGA		0.483	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		17	41	0	0	0	1	0	17	41				
KMT2A	4297	broad.mit.edu	37	11	118376471	118376471	+	Silent	SNP	C	C	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr11:118376471C>T	ENST00000389506.5	+	27	9855	c.9855C>T	c.(9853-9855)atC>atT	p.I3285I	KMT2A_ENST00000354520.4_Silent_p.I3247I|KMT2A_ENST00000534358.1_Silent_p.I3288I			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3285					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCCCCAACATCATAAAAAGAT	0.453																																						ENST00000534358.1																			0											c.(9862-9864)atC>atT		lysine (K)-specific methyltransferase 2A							109.0	107.0	108.0					11																	118376471		2200	4295	6495	SO:0001819	synonymous_variant	4297							g.chr11:118376471C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9855C>T	11.37:g.118376471C>T						KMT2A_ENST00000354520.4_Silent_p.I3247I|KMT2A_ENST00000389506.5_Silent_p.I3285I	p.I3288I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	9887	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.9864C>T	CCDS31686.1																																																																																				0.453	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		47	51	0	0	0	1	0	47	51				
TNFRSF6B	8771	broad.mit.edu	37	20	62326980	62326980	+	5'Flank	SNP	G	G	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr20:62326980G>T	ENST00000369996.1	+	0	0				RTEL1_ENST00000370003.1_Missense_Mutation_p.A512S|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A1267S|RTEL1_ENST00000370018.3_Intron|RTEL1_ENST00000318100.4_Missense_Mutation_p.A1267S|RTEL1_ENST00000508582.2_Intron|RTEL1_ENST00000360203.5_Missense_Mutation_p.A1267S	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GCGCTGCCAAGCCTGCTGGCA	0.667																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(3799-3801)Gcc>Tcc		regulator of telomere elongation helicase 1							32.0	36.0	35.0					20																	62326980		2187	4281	6468	SO:0001631	upstream_gene_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62326980G>T	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724		20.37:g.62326980G>T	Exception_encountered					RTEL1_ENST00000370018.3_Intron|RTEL1_ENST00000370003.1_Missense_Mutation_p.A512S|RTEL1_ENST00000360203.5_Missense_Mutation_p.A1267S|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A1267S|RTEL1_ENST00000508582.2_Intron	p.A1267S			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		34	4626	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		0						Missense_Mutation	SNP	ENST00000369996.1	37	c.3799G>T	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629479	0.67015	.	.	ENSG00000258366	ENST00000318100;ENST00000360203;ENST00000370003	D;D;T	0.82619	-1.63;-1.59;0.8	4.72	3.75	0.43078	.	0.546379	0.15199	N	0.275111	D	0.84977	0.5592	.	.	.	0.20307	N	0.999911	D;P	0.60160	0.987;0.872	P;P	0.56751	0.805;0.495	T	0.75010	-0.3468	8	.	.	.	-5.7344	8.0519	0.30583	0.1841:0.0:0.8159:0.0	.	512;1267	Q9NZ71-5;Q9NZ71-6	.;.	S	1267;1267;512	ENSP00000322287:A1267S;ENSP00000353332:A1267S;ENSP00000359020:A512S	.	A	+	1	0	AL353715.1	61797424	0.015000	0.18098	0.818000	0.32626	0.726000	0.41606	0.594000	0.24014	2.141000	0.66446	0.561000	0.74099	GCC		0.667	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			39	21	1	0	1.02591e-13	1	1.15491e-13	39	21				
IL1F10	84639	broad.mit.edu	37	2	113832325	113832325	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:113832325A>T	ENST00000393197.2	+	3	565	c.144A>T	c.(142-144)agA>agT	p.R48S	IL1F10_ENST00000337569.3_Missense_Mutation_p.R48S|IL1F10_ENST00000341010.2_Missense_Mutation_p.R48S	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	48						extracellular space (GO:0005615)				endometrium(1)|lung(6)|ovary(1)	8						TTCCTAACAGAGGCTTGGCCC	0.577																																						ENST00000393197.2																			0				endometrium(1)|lung(6)|ovary(1)	8						c.(142-144)agA>agT		interleukin 1 family, member 10 (theta)							106.0	108.0	107.0					2																	113832325		2203	4300	6503	SO:0001583	missense	84639					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113832325A>T	AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"""Interleukins and interleukin receptors"""	15552	protein-coding gene	gene with protein product	"""FIL1- theta"", ""interleukin-1 receptor antagonist FKSG75"""	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.144A>T	2.37:g.113832325A>T	ENSP00000376893:p.Arg48Ser					IL1F10_ENST00000337569.3_Missense_Mutation_p.R48S|IL1F10_ENST00000341010.2_Missense_Mutation_p.R48S	p.R48S	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN			3	565	+			48					Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Missense_Mutation	SNP	ENST00000393197.2	37	c.144A>T	CCDS2112.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.871308	0.72065	.	.	ENSG00000136697	ENST00000341010;ENST00000337569;ENST00000393197	T;T;T	0.16073	2.37;2.95;2.37	5.1	3.94	0.45596	.	0.305729	0.34750	N	0.003708	T	0.30262	0.0759	M	0.62088	1.915	0.36133	D	0.846248	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.995	T	0.38735	-0.9647	10	0.09590	T	0.72	-40.3675	7.8103	0.29228	0.904:0.0:0.096:0.0	.	48;48	Q8WWZ1-2;Q8WWZ1	.;IL1FA_HUMAN	S	48	ENSP00000341794:R48S;ENSP00000338418:R48S;ENSP00000376893:R48S	ENSP00000338418:R48S	R	+	3	2	IL1F10	113548796	0.990000	0.36364	1.000000	0.80357	0.907000	0.53573	2.127000	0.42035	0.900000	0.36469	0.533000	0.62120	AGA		0.577	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330725.1	NM_173161		76	87	0	0	0	1	0	76	87				
UGT1A5	54579	broad.mit.edu	37	2	234622174	234622174	+	Silent	SNP	T	T	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:234622174T>C	ENST00000373414.3	+	1	537	c.537T>C	c.(535-537)gaT>gaC	p.D179D	UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Silent_p.D179D|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	179						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_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;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TTCCATGTGATTTAGACTTTA	0.463																																						ENST00000373414.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22						c.(535-537)gaT>gaC									185.0	179.0	181.0					2																	234622174		2203	4300	6503	SO:0001819	synonymous_variant	54579							g.chr2:234622174T>C	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.537T>C	2.37:g.234622174T>C						UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron	p.D179D	NM_019078.1	NP_061951.1				Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	537	+		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)						B8K294	Silent	SNP	ENST00000373414.3	37	c.537T>C	CCDS33404.1																																																																																				0.463	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		110	85	0	0	0	1	0	110	85				
TAS1R2	80834	broad.mit.edu	37	1	19166592	19166592	+	Missense_Mutation	SNP	C	C	T	rs112938926	byFrequency	TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:19166592C>T	ENST00000375371.3	-	6	2042	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	674					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCCCTGGTAGCGGACCCAGTA	0.567													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		21457	0.0		0.0	False		,,,				2504	0.0					ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(2020-2022)cGc>cAc		taste receptor, type 1, member 2	Aspartame(DB00168)	C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	141.0	150.0	147.0		2021	3.1	1.0	1	dbSNP_132	147	0,8600		0,0,4300	yes	missense	TAS1R2	NM_152232.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	674/840	19166592	2,13004	2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166592C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2021G>A	1.37:g.19166592C>T	ENSP00000364520:p.Arg674His						p.R674H	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	2042	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	674					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.2021G>A	CCDS187.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	17.50	3.404571	0.62288	4.54E-4	0.0	ENSG00000179002	ENST00000375371	D	0.89123	-2.47	5.3	3.13	0.36017	GPCR, family 3, C-terminal (2);	0.502056	0.15479	N	0.260195	D	0.90452	0.7010	M	0.83012	2.62	0.30736	N	0.746699	D	0.53619	0.961	P	0.51385	0.668	D	0.86803	0.1993	10	0.44086	T	0.13	.	5.6142	0.17422	0.1994:0.6711:0.0:0.1296	.	674	Q8TE23	TS1R2_HUMAN	H	674	ENSP00000364520:R674H	ENSP00000364520:R674H	R	-	2	0	TAS1R2	19039179	0.999000	0.42202	0.967000	0.41034	0.788000	0.44548	3.270000	0.51600	1.191000	0.43056	0.561000	0.74099	CGC		0.567	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			33	128	0	0	0	1	0	33	128				
GBP4	115361	broad.mit.edu	37	1	89661101	89661101	+	Missense_Mutation	SNP	G	G	C	rs567028572		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr1:89661101G>C	ENST00000355754.6	-	3	339	c.242C>G	c.(241-243)cCt>cGt	p.P81R		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	81	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GGAGCCCAGAGGGAAGCCTGC	0.512																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(241-243)cCt>cGt		guanylate binding protein 4							88.0	81.0	83.0					1																	89661101		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89661101G>C	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.242C>G	1.37:g.89661101G>C	ENSP00000359490:p.Pro81Arg						p.P81R	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	3	339	-			81					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.242C>G	CCDS721.1	.	.	.	.	.	.	.	.	.	.	G	5.699	0.313442	0.10789	.	.	ENSG00000162654	ENST00000355754	T	0.74526	-0.85	5.13	-6.76	0.01732	Guanylate-binding protein, N-terminal (1);	0.851188	0.10373	N	0.682508	T	0.38453	0.1041	L	0.37507	1.11	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.26503	-1.0101	10	0.39692	T	0.17	.	10.7088	0.45971	0.0:0.3836:0.2105:0.4059	.	81	Q96PP9	GBP4_HUMAN	R	81	ENSP00000359490:P81R	ENSP00000359490:P81R	P	-	2	0	GBP4	89433689	0.000000	0.05858	0.004000	0.12327	0.186000	0.23388	-1.835000	0.01692	-1.579000	0.01646	0.585000	0.79938	CCT		0.512	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		22	31	0	0	0	1	0	22	31				
ERBB4	2066	broad.mit.edu	37	2	212251650	212251650	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:212251650G>C	ENST00000342788.4	-	27	3719	c.3409C>G	c.(3409-3411)Cca>Gca	p.P1137A	ERBB4_ENST00000402597.1_Missense_Mutation_p.P1127A|ERBB4_ENST00000436443.1_Missense_Mutation_p.P1121A	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1137					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTCCGTTCTGGGGCAAACACG	0.537										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(3409-3411)Cca>Gca		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							154.0	139.0	144.0					2																	212251650		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212251650G>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3409C>G	2.37:g.212251650G>C	ENSP00000342235:p.Pro1137Ala	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Missense_Mutation_p.P1127A|ERBB4_ENST00000436443.1_Missense_Mutation_p.P1121A	p.P1137A	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	27	3719	-		Renal(323;0.06)|Lung NSC(271;0.197)	1137					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3409C>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660034	0.29515	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.74002	-0.78;-0.8;-0.79	5.6	1.65	0.23941	.	0.501056	0.21599	N	0.071965	T	0.52613	0.1745	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.26155	-1.0111	10	0.22706	T	0.39	.	4.1202	0.10101	0.2147:0.1372:0.5454:0.1027	.	1111;1127;1121;1137	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	A	1137;1121;1127	ENSP00000342235:P1137A;ENSP00000403204:P1121A;ENSP00000385565:P1127A	ENSP00000342235:P1137A	P	-	1	0	ERBB4	211959895	0.058000	0.20735	0.995000	0.50966	0.996000	0.88848	0.316000	0.19469	0.319000	0.23209	0.462000	0.41574	CCA		0.537	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		31	38	0	0	0	1	0	31	38				
MPDZ	8777	broad.mit.edu	37	9	13247754	13247754	+	Silent	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr9:13247754C>G	ENST00000319217.7	-	3	310	c.63G>C	c.(61-63)ctG>ctC	p.L21L	MPDZ_ENST00000541718.1_Silent_p.L21L|MPDZ_ENST00000447879.1_Silent_p.L21L|MPDZ_ENST00000381015.4_Silent_p.L21L|MPDZ_ENST00000546205.1_Silent_p.L21L|MPDZ_ENST00000536827.1_Silent_p.L21L|MPDZ_ENST00000381022.2_Silent_p.L21L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	21	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CACGTTCTCGCAGCTTGGTTT	0.488																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(61-63)ctG>ctC		multiple PDZ domain protein							261.0	251.0	254.0					9																	13247754		1932	4148	6080	SO:0001819	synonymous_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13247754C>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.63G>C	9.37:g.13247754C>G						MPDZ_ENST00000447879.1_Silent_p.L21L|MPDZ_ENST00000546205.1_Silent_p.L21L|MPDZ_ENST00000381015.4_Silent_p.L21L|MPDZ_ENST00000381022.2_Silent_p.L21L|MPDZ_ENST00000541718.1_Silent_p.L21L|MPDZ_ENST00000536827.1_Silent_p.L21L	p.L21L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	3	310	-			21			L27.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.63G>C																																																																																					0.488	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		73	37	0	0	0	1	0	73	37				
NAE1	8883	broad.mit.edu	37	16	66839718	66839718	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr16:66839718C>G	ENST00000290810.3	-	19	1554	c.1457G>C	c.(1456-1458)gGa>gCa	p.G486A	NAE1_ENST00000394074.2_Missense_Mutation_p.G397A|NAE1_ENST00000359087.4_Missense_Mutation_p.G489A|NAE1_ENST00000379463.2_Missense_Mutation_p.G480A			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	486					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CTCAGCAGCTCCATATCGGCA	0.398																																						ENST00000379463.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1438-1440)gGa>gCa		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						92.0	84.0	87.0					16																	66839718		2200	4300	6500	SO:0001583	missense	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66839718C>G	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1457G>C	16.37:g.66839718C>G	ENSP00000290810:p.Gly486Ala					NAE1_ENST00000359087.4_Missense_Mutation_p.G489A|NAE1_ENST00000290810.3_Missense_Mutation_p.G486A|NAE1_ENST00000394074.2_Missense_Mutation_p.G397A	p.G480A	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	20	1631	-		Ovarian(137;0.0563)	486					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	c.1439G>C	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926672	0.92319	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.46	5.46	0.80206	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	M	0.77616	2.38	0.80722	D	1	P;D;D	0.89917	0.864;1.0;1.0	B;D;D	0.91635	0.351;0.999;0.997	T	0.56866	-0.7908	10	0.21540	T	0.41	-24.9121	19.3112	0.94188	0.0:1.0:0.0:0.0	.	489;486;480	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	A	489;486;480;397	ENSP00000351990:G489A;ENSP00000290810:G486A;ENSP00000368776:G480A;ENSP00000377637:G397A	ENSP00000290810:G486A	G	-	2	0	NAE1	65397219	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.967000	0.76079	2.568000	0.86640	0.643000	0.83706	GGA		0.398	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		12	34	0	0	0	1	0	12	34				
CUL3	8452	broad.mit.edu	37	2	225368438	225368439	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr2:225368438_225368439insA	ENST00000264414.4	-	9	1645_1646	c.1307_1308insT	c.(1306-1308)ttgfs	p.L436fs	CUL3_ENST00000409777.1_Frame_Shift_Ins_p.L412fs|CUL3_ENST00000409096.1_Frame_Shift_Ins_p.L412fs|CUL3_ENST00000344951.4_Frame_Shift_Ins_p.L370fs	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	436					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GTCTCCTTGCCAAGTGTTGTTT	0.312																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(1306-1308)tgcfs		cullin 3																																				SO:0001589	frameshift_variant	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225368438_225368439insA	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1308dupT	2.37:g.225368440_225368440dupA	ENSP00000264414:p.Leu436fs					CUL3_ENST00000344951.4_Frame_Shift_Ins_p.C370fs|CUL3_ENST00000409096.1_Frame_Shift_Ins_p.C412fs|CUL3_ENST00000409777.1_Frame_Shift_Ins_p.C412fs	p.C436fs	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	9	1645_1646	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	436					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Frame_Shift_Ins	INS	ENST00000264414.4	37	c.1307_1308insT	CCDS2462.1																																																																																				0.312	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			29	30						29	30	---	---	---	---
N4BP3	23138	broad.mit.edu	37	5	177547308	177547308	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr5:177547308delT	ENST00000274605.5	+	3	819	c.460delT	c.(460-462)tgcfs	p.C154fs		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	154						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACGCTGGCCTGCCACCCGCC	0.701																																						ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(460-462)gcfs		NEDD4 binding protein 3							13.0	16.0	15.0					5																	177547308		2201	4287	6488	SO:0001589	frameshift_variant	23138					cytoplasmic vesicle membrane		g.chr5:177547308delT	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.460delT	5.37:g.177547308delT	ENSP00000274605:p.Cys154fs						p.C154fs	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	819	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	154					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Frame_Shift_Del	DEL	ENST00000274605.5	37	c.460delT	CCDS34307.1																																																																																				0.701	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		12	18						12	18	---	---	---	---
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977389	29977393	+	RNA	DEL	CTTCT	CTTCT	-			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:29977389_29977393delCTTCT	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		AGAACCCTGACTTCTCTTTCTGCAA	0.488																																						ENST00000376797.3																			0																																																			80862							g.chr6:29977389_29977393delCTTCT	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977389_29977393delCTTCT						ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	DEL	ENST00000376797.3	37																																																																																						0.488	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		7	45						7	45	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58.0	61.0	60.0			0.1	1.0	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		7	206						7	206	---	---	---	---
TTLL11	158135	broad.mit.edu	37	9	124854967	124854967	+	Splice_Site	DEL	T	T	-			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr9:124854967delT	ENST00000373776.3	-	1	918	c.731delA	c.(730-732)gag>gg	p.E244fs	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_Splice_Site_p.E244fs	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	244	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GGGCCTCACCTCCTTCCACTT	0.706																																						ENST00000321582.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						c.e1+1		tubulin tyrosine ligase-like family, member 11							12.0	14.0	13.0					9																	124854967		2061	4008	6069	SO:0001630	splice_region_variant	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124854967delT	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.732+1A>-	9.37:g.124854967delT						TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Splice_Site_p.E244_splice	p.E244_splice	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN			1	918	-			244			TTL.			Splice_Site	DEL	ENST00000373776.3	37	c.732_splice	CCDS6834.2																																																																																				0.706	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486	Frame_Shift_Del	2	4						2	4	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29674995	29674995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr13:29674995delC	ENST00000431530.3	+	3	2620	c.2562delC	c.(2560-2562)ctcfs	p.L854fs		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	844	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACTCACGTCTCCCGGCAGCCA	0.557																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2560-2562)ctfs		microtubule associated tumor suppressor candidate 2							9.0	10.0	9.0					13																	29674995		1943	4087	6030	SO:0001589	frameshift_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29674995delC	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2562delC	13.37:g.29674995delC	ENSP00000392057:p.Leu854fs						p.L854fs	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			3	2620	+			844			Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Frame_Shift_Del	DEL	ENST00000431530.3	37	c.2562delC	CCDS45022.1																																																																																				0.557	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		2	4						2	4	---	---	---	---
PYGB	5834	broad.mit.edu	37	20	25276271	25276272	+	Frame_Shift_Ins	INS	-	-	T	rs201552182		TCGA-QK-A8ZA-01A-11D-A391-08	TCGA-QK-A8ZA-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d4f75b-c262-4451-a43e-27aa35f7f302	3eb55d04-2d9d-495f-94f1-3316c269a5da	g.chr20:25276271_25276272insT	ENST00000216962.4	+	19	2454_2455	c.2344_2345insT	c.(2344-2346)atgfs	p.M782fs	PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	782					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TGAAGCCTACATGCAGTGCCAG	0.624																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2344-2346)gcafs		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25276271_25276272insT		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2345dupT	20.37:g.25276272_25276272dupT	ENSP00000216962:p.Met782fs					ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	p.A782fs	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			19	2454_2455	+			782					Q96AK1|Q9NPX8	Frame_Shift_Ins	INS	ENST00000216962.4	37	c.2344_2345insT	CCDS13171.1																																																																																				0.624	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		39	46						39	46	---	---	---	---
