#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
EBF1	1879	broad.mit.edu	37	5	158158158	158158158	+	Silent	SNP	G	G	A	rs146276323		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:158158158G>A	ENST00000313708.6	-	11	1326	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N	EBF1_ENST00000517373.1_Silent_p.N340N|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.N317N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	348					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGGTTCGTTGAGCGCTG	0.448			T	HMGA2	lipoma								G|||	1	0.000199681	0.0008	0.0	5008	,	,		21030	0.0		0.0	False		,,,				2504	0.0					ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1042-1044)aaC>aaT		early B-cell factor 1		G		1,4405	2.1+/-5.4	0,1,2202	59.0	60.0	60.0		1044	-11.0	0.3	5	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	EBF1	NM_024007.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		348/592	158158158	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158158158G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1044C>T	5.37:g.158158158G>A						EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.N340N|EBF1_ENST00000380654.4_Silent_p.N317N	p.N348N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1326	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	348					Q8IW11	Silent	SNP	ENST00000313708.6	37	c.1044C>T	CCDS4343.1																																																																																				0.448	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		10	32	0	0	0	1	0	10	32				
KDR	3791	broad.mit.edu	37	4	55961110	55961110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:55961110G>A	ENST00000263923.4	-	21	3125	c.2830C>T	c.(2830-2832)Cga>Tga	p.R944*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	944	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R944R(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGACGGAATCGTGCCCCTTTG	0.433			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		1	Substitution - coding silent(1)	p.R944R(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2830-2832)Cga>Tga		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						75.0	70.0	71.0					4																	55961110		2203	4300	6503	SO:0001587	stop_gained	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55961110G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2830C>T	4.37:g.55961110G>A	ENSP00000263923:p.Arg944*	TSP Lung(20;0.16)					p.R944*	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		21	3125	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		944			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	c.2830C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	41	8.536951	0.98854	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.87	5.87	0.94306	.	0.209202	0.41712	D	0.000834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9428	0.58354	0.0:0.0:0.7978:0.2022	.	.	.	.	X	944	.	ENSP00000263923:R944X	R	-	1	2	KDR	55655867	0.996000	0.38824	0.880000	0.34516	0.291000	0.27294	3.590000	0.53979	2.780000	0.95670	0.655000	0.94253	CGA		0.433	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			31	61	0	0	0	1	0	31	61				
SPEF2	79925	broad.mit.edu	37	5	35646854	35646854	+	Missense_Mutation	SNP	G	G	A	rs370674250		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:35646854G>A	ENST00000356031.3	+	5	825	c.671G>A	c.(670-672)cGt>cAt	p.R224H	SPEF2_ENST00000440995.2_Missense_Mutation_p.R224H|SPEF2_ENST00000282469.6_Missense_Mutation_p.R224H|SPEF2_ENST00000509059.1_Missense_Mutation_p.R224H	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	224					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCATCAAATCGTACTTTGAAA	0.333																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(670-672)cGt>cAt		sperm flagellar 2		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	94.0	92.0		671,671	4.0	1.0	5		92	0,8600		0,0,4300	no	missense,missense	SPEF2	NM_144722.3,NM_024867.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	224/515,224/1823	35646854	1,13005	2203	4300	6503	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35646854G>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.671G>A	5.37:g.35646854G>A	ENSP00000348314:p.Arg224His					SPEF2_ENST00000356031.3_Missense_Mutation_p.R224H|SPEF2_ENST00000282469.6_Missense_Mutation_p.R224H|SPEF2_ENST00000509059.1_Missense_Mutation_p.R224H	p.R224H			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	671	+	all_lung(31;7.56e-05)		224					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.671G>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453886	0.26161	2.27E-4	0.0	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.31247	2.29;3.25;2.29;1.5;3.25	5.76	3.97	0.46021	.	0.614429	0.16968	N	0.192217	T	0.24470	0.0593	L	0.52364	1.645	0.80722	D	1	B;B;B	0.28850	0.225;0.036;0.017	B;B;B	0.17722	0.019;0.005;0.007	T	0.05068	-1.0908	10	0.49607	T	0.09	.	6.5831	0.22607	0.2549:0.1265:0.6186:0.0	.	224;224;224	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	H	224;224;224;167;224	ENSP00000282469:R224H;ENSP00000348314:R224H;ENSP00000421593:R224H;ENSP00000426259:R167H;ENSP00000412125:R224H	ENSP00000282469:R224H	R	+	2	0	SPEF2	35682611	0.160000	0.22878	0.996000	0.52242	0.333000	0.28666	1.308000	0.33528	0.782000	0.33613	-0.140000	0.14226	CGT		0.333	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		42	81	0	0	0	1	0	42	81				
ZNF683	257101	broad.mit.edu	37	1	26691676	26691676	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:26691676T>C	ENST00000436292.1	-	4	481	c.361A>G	c.(361-363)Aag>Gag	p.K121E	ZNF683_ENST00000374204.1_Missense_Mutation_p.K121E|ZNF683_ENST00000349618.3_Missense_Mutation_p.K121E|ZNF683_ENST00000403843.1_Missense_Mutation_p.K121E			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	121					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GTGAATTTCTTGTCATCGGTG	0.577																																						ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(361-363)Aag>Gag		zinc finger protein 683							29.0	28.0	28.0					1																	26691676		2200	4298	6498	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691676T>C	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.361A>G	1.37:g.26691676T>C	ENSP00000388792:p.Lys121Glu					ZNF683_ENST00000403843.1_Missense_Mutation_p.K121E|ZNF683_ENST00000374204.1_Missense_Mutation_p.K121E|ZNF683_ENST00000349618.3_Missense_Mutation_p.K121E	p.K121E			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	481	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	121					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.361A>G		.	.	.	.	.	.	.	.	.	.	T	0.679	-0.798865	0.02841	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801;ENST00000454975;ENST00000423508;ENST00000416125	T;T;T;T;T;T;T;T;T	0.25912	3.27;3.27;3.21;3.21;2.43;2.44;1.77;2.11;2.13	4.87	-1.12	0.09808	.	1.288130	0.05415	N	0.543232	T	0.07503	0.0189	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32508	-0.9904	10	0.02654	T	1	-2.6909	6.0105	0.19573	0.0:0.2846:0.501:0.2144	.	121;121	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	E	121;121;121;121;129;121;71;129;121	ENSP00000384782:K121E;ENSP00000388792:K121E;ENSP00000363320:K121E;ENSP00000344095:K121E;ENSP00000411289:K129E;ENSP00000411290:K121E;ENSP00000412881:K71E;ENSP00000391584:K129E;ENSP00000401961:K121E	ENSP00000344095:K121E	K	-	1	0	ZNF683	26564263	0.001000	0.12720	0.033000	0.17914	0.002000	0.02628	-0.443000	0.06862	-0.035000	0.13691	-0.375000	0.07067	AAG		0.577	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		4	9	0	0	0	1	0	4	9				
PTEN	5728	broad.mit.edu	37	10	89624301	89624301	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr10:89624301G>T	ENST00000371953.3	+	1	1432	c.75G>T	c.(73-75)ttG>ttT	p.L25F	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	25	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.L25fs*28(1)|p.L25F(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTTAGACTTGACCTGTATCC	0.458		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		52	Whole gene deletion(37)|Unknown(13)|Substitution - Missense(1)|Deletion - Frameshift(1)	p.0?(37)|p.?(13)|p.L25fs*28(1)|p.L25F(1)	prostate(14)|central_nervous_system(10)|skin(7)|lung(6)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(73-75)ttG>ttT		phosphatase and tensin homolog							160.0	152.0	155.0					10																	89624301		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89624301G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.75G>T	10.37:g.89624301G>T	ENSP00000361021:p.Leu25Phe	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.L25F	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	1	1432	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	25			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.75G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256616	0.80246	.	.	ENSG00000171862	ENST00000371953	D	0.98684	-5.07	5.28	5.28	0.74379	Phosphatase tensin type (1);	0.164389	0.41605	D	0.000848	D	0.98661	0.9551	M	0.79693	2.465	0.80722	D	1	P	0.51240	0.943	P	0.52109	0.69	D	0.99191	1.0870	9	.	.	.	-0.0822	17.6706	0.88216	0.0:0.0:1.0:0.0	.	25	P60484	PTEN_HUMAN	F	25	ENSP00000361021:L25F	.	L	+	3	2	PTEN	89614281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.031000	0.49728	2.467000	0.83353	0.561000	0.74099	TTG		0.458	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		38	28	1	0	1.30015e-28	1	1.44586e-28	38	28				
EGFR	1956	broad.mit.edu	37	7	55260473	55260473	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:55260473G>A	ENST00000275493.2	+	22	2817	c.2640G>A	c.(2638-2640)tgG>tgA	p.W880*	EGFR_ENST00000454757.2_Nonsense_Mutation_p.W827*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Nonsense_Mutation_p.W835*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	880	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTATCAAGTGGATGGCATTGG	0.433		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2638-2640)tgG>tgA		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						122.0	108.0	113.0					7																	55260473		2203	4300	6503	SO:0001587	stop_gained	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55260473G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2640G>A	7.37:g.55260473G>A	ENSP00000275493:p.Trp880*	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000455089.1_Nonsense_Mutation_p.W835*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.W827*	p.W880*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		22	2817	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		880			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Nonsense_Mutation	SNP	ENST00000275493.2	37	c.2640G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	40	8.489075	0.98834	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3896	0.90478	0.0:0.0:1.0:0.0	.	.	.	.	X	835;750;880;827	.	ENSP00000275493:W880X	W	+	3	0	EGFR	55227967	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	9.712000	0.98738	2.680000	0.91292	0.561000	0.74099	TGG		0.433	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		44	1857	0	0	0	1	0	44	1857				
EPC2	26122	broad.mit.edu	37	2	149528637	149528637	+	Silent	SNP	A	A	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:149528637A>G	ENST00000258484.6	+	10	1435	c.1401A>G	c.(1399-1401)acA>acG	p.T467T		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	467					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GAATATCCACAGAACATGACC	0.383																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1399-1401)acA>acG		enhancer of polycomb homolog 2 (Drosophila)							45.0	42.0	43.0					2																	149528637		1837	4105	5942	SO:0001819	synonymous_variant	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149528637A>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1401A>G	2.37:g.149528637A>G							p.T467T	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	10	1435	+			467					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Silent	SNP	ENST00000258484.6	37	c.1401A>G	CCDS46422.1																																																																																				0.383	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		18	22	0	0	0	1	0	18	22				
FAM86EP	348926	broad.mit.edu	37	4	3952918	3952918	+	RNA	SNP	T	T	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:3952918T>G	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		TGACGGCGGGTGCTTCACACA	0.522																																						ENST00000281228.8																			0																																																			0							g.chr4:3952918T>G			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3952918T>G						FAM86EP_ENST00000313946.8_RNA								0	189	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.522	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			4	47	0	0	0	1	0	4	47				
IGSF1	3547	broad.mit.edu	37	X	130413285	130413285	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:130413285C>T	ENST00000361420.3	-	10	1756	c.1677G>A	c.(1675-1677)ggG>ggA	p.G559G	IGSF1_ENST00000370903.3_Silent_p.G559G|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Silent_p.G550G|IGSF1_ENST00000370904.1_Silent_p.G550G			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	559					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCATGGTGACCCCTTGAGCTG	0.617																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(1648-1650)ggG>ggA		immunoglobulin superfamily, member 1							56.0	50.0	52.0					X																	130413285		2203	4300	6503	SO:0001819	synonymous_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130413285C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1677G>A	X.37:g.130413285C>T						IGSF1_ENST00000370910.1_Silent_p.G550G|IGSF1_ENST00000370903.3_Silent_p.G559G|IGSF1_ENST00000361420.3_Silent_p.G559G	p.G550G			Q8N6C5	IGSF1_HUMAN			16	2560	-			559					B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	c.1650G>A	CCDS14629.1																																																																																				0.617	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			25	56	0	0	0	1	0	25	56				
TRIM58	25893	broad.mit.edu	37	1	248039261	248039261	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:248039261C>T	ENST00000366481.3	+	6	979	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	311	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R311C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGCCGACCTGCGCAGTGTGCA	0.572																																						ENST00000366481.3																			2	Substitution - Missense(2)	p.R311C(2)	lung(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(931-933)Cgc>Tgc		tripartite motif containing 58							85.0	79.0	81.0					1																	248039261		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039261C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.931C>T	1.37:g.248039261C>T	ENSP00000355437:p.Arg311Cys					OR2W3_ENST00000537741.1_5'UTR	p.R311C	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	979	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	311			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.931C>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170489	0.38315	.	.	ENSG00000162722	ENST00000366481	T	0.13538	2.58	3.82	3.82	0.43975	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.256461	0.28187	N	0.016276	T	0.30166	0.0756	M	0.64404	1.975	0.21579	N	0.999634	D	0.89917	1.0	D	0.80764	0.994	T	0.01889	-1.1253	10	0.87932	D	0	.	9.0026	0.36092	0.2201:0.7799:0.0:0.0	.	311	Q8NG06	TRI58_HUMAN	C	311	ENSP00000355437:R311C	ENSP00000355437:R311C	R	+	1	0	TRIM58	246105884	0.019000	0.18553	0.330000	0.25442	0.375000	0.29983	1.530000	0.36007	2.443000	0.82685	0.555000	0.69702	CGC		0.572	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		3	64	0	0	0	1	0	3	64				
CYP2S1	29785	broad.mit.edu	37	19	41703792	41703792	+	Missense_Mutation	SNP	C	C	T	rs148695011		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:41703792C>T	ENST00000310054.4	+	3	668	c.452C>T	c.(451-453)gCg>gTg	p.A151V	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	151					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTGATCCAGGCGGAGGCCCGG	0.622																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(451-453)gCg>gTg		cytochrome P450, family 2, subfamily S, polypeptide 1		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	58.0	57.0	57.0		452	1.2	0.5	19	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CYP2S1	NM_030622.6	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	151/505	41703792	2,13004	2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41703792C>T	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.452C>T	19.37:g.41703792C>T	ENSP00000308032:p.Ala151Val					CYP2S1_ENST00000542619.1_Intron	p.A151V	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			3	668	+			151					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.452C>T	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177587	0.57692	2.27E-4	1.16E-4	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.68903	-0.36	4.87	1.2	0.21068	.	0.276657	0.32386	N	0.006179	T	0.61874	0.2382	L	0.58428	1.81	0.80722	D	1	P	0.51653	0.947	B	0.43889	0.435	T	0.65245	-0.6215	10	0.66056	D	0.02	.	11.3497	0.49581	0.6607:0.3393:0.0:0.0	.	151	Q96SQ9	CP2S1_HUMAN	V	151	ENSP00000308032:A151V	ENSP00000301173:A151V	A	+	2	0	CYP2S1	46395632	0.352000	0.24895	0.475000	0.27278	0.366000	0.29705	1.636000	0.37144	0.440000	0.26502	0.485000	0.47835	GCG		0.622	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			9	44	0	0	0	1	0	9	44				
RPF1	80135	broad.mit.edu	37	1	84961976	84961976	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:84961976C>T	ENST00000370654.5	+	8	946	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	311	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.|RNA-binding. {ECO:0000250}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						ACTTGGACCACGTTTTACCTT	0.328																																						ENST00000370654.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						c.(931-933)Cgt>Tgt		ribosome production factor 1 homolog (S. cerevisiae)							88.0	92.0	91.0					1																	84961976		2203	4300	6503	SO:0001583	missense	80135				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	g.chr1:84961976C>T	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.931C>T	1.37:g.84961976C>T	ENSP00000359688:p.Arg311Cys						p.R311C	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN			8	946	+			311			Brix.|RNA-binding (By similarity).		Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	ENST00000370654.5	37	c.931C>T	CCDS695.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347006	0.82022	.	.	ENSG00000117133	ENST00000370654	T	0.35236	1.32	6.07	4.14	0.48551	Brix domain (3);Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77948	-0.2396	10	0.87932	D	0	-13.0208	13.6364	0.62225	0.1242:0.7567:0.1192:0.0	.	311	Q9H9Y2	RPF1_HUMAN	C	311	ENSP00000359688:R311C	ENSP00000359688:R311C	R	+	1	0	RPF1	84734564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.469000	0.80959	1.563000	0.49615	0.655000	0.94253	CGT		0.328	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		34	40	0	0	0	1	0	34	40				
PARP10	84875	broad.mit.edu	37	8	145057683	145057683	+	Missense_Mutation	SNP	G	G	A	rs146697146	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:145057683G>A	ENST00000313028.7	-	8	2168	c.2074C>T	c.(2074-2076)Ccg>Tcg	p.P692S	PARP10_ENST00000524918.1_Missense_Mutation_p.P683S|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000525773.1_Missense_Mutation_p.P704S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	692	Glu-rich.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTCCAACGGGGGCTGCTCC	0.677													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17958	0.0		0.0	False		,,,				2504	0.0					ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(2074-2076)Ccg>Tcg		poly (ADP-ribose) polymerase family, member 10			SER/PRO	22,4378		0,22,2178	12.0	14.0	13.0		2074	1.3	0.0	8	dbSNP_134	13	0,8596		0,0,4298	yes	missense	PARP10	NM_032789.3	74	0,22,6476	AA,AG,GG		0.0,0.5,0.1693	benign	692/1026	145057683	22,12974	2200	4298	6498	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145057683G>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2074C>T	8.37:g.145057683G>A	ENSP00000325618:p.Pro692Ser					PARP10_ENST00000525773.1_Missense_Mutation_p.P704S|PARP10_ENST00000524918.1_Missense_Mutation_p.P683S	p.P692S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		8	2168	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		692			Glu-rich.		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.2074C>T	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.130040	0.01756	0.005	0.0	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.08807	3.05;3.05;3.05	3.22	1.26	0.21427	Ubiquitin interacting motif (1);	1.737490	0.03523	N	0.221362	T	0.04679	0.0127	N	0.19112	0.55	0.09310	N	1	B;B	0.23058	0.079;0.079	B;B	0.13407	0.009;0.009	T	0.36890	-0.9729	10	0.49607	T	0.09	.	7.7504	0.28894	0.0:0.0:0.5457:0.4543	.	704;692	E9PNI7;Q53GL7	.;PAR10_HUMAN	S	683;398;692;704	ENSP00000431620:P683S;ENSP00000325618:P692S;ENSP00000434776:P704S	ENSP00000325618:P692S	P	-	1	0	PARP10	145129671	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.170000	0.16663	0.329000	0.23460	0.574000	0.79327	CCG		0.677	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		6	23	0	0	0	1	0	6	23				
IFT140	9742	broad.mit.edu	37	16	1568282	1568282	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:1568282T>C	ENST00000426508.2	-	30	4480	c.4117A>G	c.(4117-4119)Atc>Gtc	p.I1373V	IFT140_ENST00000361339.5_Missense_Mutation_p.I567V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1373					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCGATGCGGATGGTGCTGTCC	0.602																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(4117-4119)Atc>Gtc		intraflagellar transport 140 homolog (Chlamydomonas)							113.0	81.0	92.0					16																	1568282		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1568282T>C	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.4117A>G	16.37:g.1568282T>C	ENSP00000406012:p.Ile1373Val					IFT140_ENST00000361339.5_Missense_Mutation_p.I567V	p.I1373V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			30	4480	-		Hepatocellular(780;0.219)	1373					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.4117A>G	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.296942	0.00245	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.53640	1.74;0.61	4.68	-3.88	0.04205	.	0.507715	0.20030	N	0.100733	T	0.18882	0.0453	N	0.05510	-0.035	0.30062	N	0.810792	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.36456	-0.9747	10	0.02654	T	1	.	11.3699	0.49694	0.0:0.3841:0.0:0.6159	.	1373;1060	Q96RY7;B4DR58	IF140_HUMAN;.	V	1373;567;1373	ENSP00000354895:I567V;ENSP00000406012:I1373V	ENSP00000354895:I567V	I	-	1	0	IFT140	1508283	0.000000	0.05858	0.004000	0.12327	0.031000	0.12232	-0.597000	0.05713	-1.401000	0.02058	-1.162000	0.01777	ATC		0.602	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		20	37	0	0	0	1	0	20	37				
LRP1B	53353	broad.mit.edu	37	2	141072598	141072598	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:141072598A>C	ENST00000389484.3	-	83	13682	c.12711T>G	c.(12709-12711)tgT>tgG	p.C4237W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4237	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCAACAGTGACACCTCAAAT	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12709-12711)tgT>tgG		low density lipoprotein receptor-related protein 1B							154.0	139.0	144.0					2																	141072598		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141072598A>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12711T>G	2.37:g.141072598A>C	ENSP00000374135:p.Cys4237Trp	TSP Lung(27;0.18)					p.C4237W	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	83	13682	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4237			EGF-like 10.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12711T>G	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.54|18.54	3.647119|3.647119	0.67358|0.67358	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.88201|.	-2.35|.	6.06|6.06	3.72|3.72	0.42706|0.42706	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);|.	0.124659|.	0.56097|.	D|.	0.000035|.	T|T	0.63105|0.63105	0.2483|0.2483	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.58962|0.58962	-0.7543|-0.7543	10|5	0.66056|.	D|.	0.02|.	.|.	8.9582|8.9582	0.35832|0.35832	0.7309:0.0:0.2691:0.0|0.7309:0.0:0.2691:0.0	.|.	4237|.	Q9NZR2|.	LRP1B_HUMAN|.	W|G	4237;4175|469	ENSP00000374135:C4237W|.	ENSP00000374135:C4237W|.	C|V	-|-	3|2	2|0	LRP1B|LRP1B	140789068|140789068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.417000|1.417000	0.34770|0.34770	0.552000|0.552000	0.29026|0.29026	0.533000|0.533000	0.62120|0.62120	TGT|GTC		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	85	0	0	0	1	0	3	85				
RPS4X	6191	broad.mit.edu	37	X	71493768	71493768	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:71493768G>T	ENST00000316084.6	-	5	519	c.415C>A	c.(415-417)Ctg>Atg	p.L139M	RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	139					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					TGAGTCACCAGATGAGGGATT	0.438																																						ENST00000316084.6																			0				NS(1)|large_intestine(1)	2						c.(415-417)Ctg>Atg		ribosomal protein S4, X-linked							61.0	51.0	54.0					X																	71493768		2203	4300	6503	SO:0001583	missense	6191				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome	g.chrX:71493768G>T		CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"""S ribosomal proteins"""	10424	protein-coding gene	gene with protein product	"""40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2"""	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.415C>A	X.37:g.71493768G>T	ENSP00000362744:p.Leu139Met					RPS4X_ENST00000486733.1_5'UTR	p.L139M	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN			5	519	-	Renal(35;0.156)		139					P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	ENST00000316084.6	37	c.415C>A	CCDS14418.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666767	0.67814	.	.	ENSG00000198034	ENST00000316084	D	0.88277	-2.36	4.34	1.56	0.23342	Ribosomal protein S4e, central (2);	0.000000	0.56097	D	0.000025	D	0.93112	0.7807	M	0.88842	2.985	0.80722	D	1	P	0.49783	0.928	P	0.61132	0.884	D	0.90865	0.4741	10	0.87932	D	0	.	7.368	0.26785	0.3174:0.0:0.6826:0.0	.	139	P62701	RS4X_HUMAN	M	139	ENSP00000362744:L139M	ENSP00000362744:L139M	L	-	1	2	RPS4X	71410493	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	2.305000	0.43664	-0.025000	0.13918	0.600000	0.82982	CTG		0.438	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057188.1	NM_001007		24	48	1	0	1.96895e-08	1	2.13441e-08	24	48				
FAT2	2196	broad.mit.edu	37	5	150924339	150924339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:150924339G>A	ENST00000261800.5	-	9	6361	c.6349C>T	c.(6349-6351)Cga>Tga	p.R2117*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2117	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2117*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCAATTCGGAAATATGTG	0.428																																						ENST00000261800.5																			1	Substitution - Nonsense(1)	p.R2117*(1)	endometrium(1)	NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6349-6351)Cga>Tga		FAT atypical cadherin 2							120.0	125.0	123.0					5																	150924339		2203	4300	6503	SO:0001587	stop_gained	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924339G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6349C>T	5.37:g.150924339G>A	ENSP00000261800:p.Arg2117*						p.R2117*	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6361	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2117			Cadherin 18.		O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	c.6349C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	46	12.437382	0.99667	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.63	4.57	0.56435	.	0.234724	0.30649	N	0.009163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	7.3985	0.26950	0.1313:0.0:0.6995:0.1692	.	.	.	.	X	2117	.	ENSP00000261800:R2117X	R	-	1	2	FAT2	150904532	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.740000	0.26188	2.658000	0.90341	0.561000	0.74099	CGA		0.428	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		62	139	0	0	0	1	0	62	139				
THSD7B	80731	broad.mit.edu	37	2	138378230	138378230	+	Missense_Mutation	SNP	G	G	A	rs370520413		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:138378230G>A	ENST00000409968.1	+	20	3911	c.3733G>A	c.(3733-3735)Gtg>Atg	p.V1245M	THSD7B_ENST00000272643.3_Missense_Mutation_p.V1248M|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.V1217M			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1247	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTGGAATGCGTGGTCAACTG	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18436	0.0		0.0	False		,,,				2504	0.0					ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3733-3735)Gtg>Atg		thrombospondin, type I, domain containing 7B		G	MET/VAL	7,3857		0,7,1925	196.0	188.0	191.0		3646	3.8	1.0	2		191	0,8314		0,0,4157	no	missense	THSD7B	NM_001080427.1	21	0,7,6082	AA,AG,GG		0.0,0.1812,0.0575	probably-damaging	1216/1578	138378230	7,12171	1932	4157	6089	SO:0001583	missense	80731							g.chr2:138378230G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3733G>A	2.37:g.138378230G>A	ENSP00000387145:p.Val1245Met					THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.V1248M|THSD7B_ENST00000413152.2_Missense_Mutation_p.V1217M	p.V1245M						BRCA - Breast invasive adenocarcinoma(221;0.19)	20	3911	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3733G>A		.	.	.	.	.	.	.	.	.	.	G	10.68	1.419463	0.25552	0.001812	0.0	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.22945	2.45;2.33;1.93	4.71	3.82	0.43975	.	0.395303	0.28436	N	0.015344	T	0.24044	0.0582	L	0.44542	1.39	0.80722	D	1	B	0.25809	0.135	B	0.17098	0.017	T	0.02958	-1.1089	10	0.59425	D	0.04	.	15.302	0.73958	0.0777:0.0:0.9223:0.0	.	1217	C9JKN6	.	M	1245;1248;1217	ENSP00000387145:V1245M;ENSP00000272643:V1248M;ENSP00000413841:V1217M	ENSP00000272643:V1248M	V	+	1	0	THSD7B	138094700	0.997000	0.39634	0.998000	0.56505	0.677000	0.39632	1.903000	0.39858	0.715000	0.32103	-0.813000	0.03139	GTG		0.468	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		59	104	0	0	0	1	0	59	104				
MCF2L2	23101	broad.mit.edu	37	3	183107495	183107495	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr3:183107495G>A	ENST00000328913.3	-	2	446	c.149C>T	c.(148-150)gCc>gTc	p.A50V	MCF2L2_ENST00000447025.2_Missense_Mutation_p.A50V|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A50V|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A50V	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	50	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGAAAGAATGGCAAATTGTCT	0.433																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(148-150)gCc>gTc		MCF.2 cell line derived transforming sequence-like 2							127.0	117.0	120.0					3																	183107495		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183107495G>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.149C>T	3.37:g.183107495G>A	ENSP00000328118:p.Ala50Val					MCF2L2_ENST00000447025.2_Missense_Mutation_p.A50V|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A50V|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A50V	p.A50V	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	446	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		50			CRAL-TRIO.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.149C>T	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462203	0.84425	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362;ENST00000482017	T;T;T;T;T	0.58652	3.9;3.93;3.01;2.75;0.32	4.79	3.91	0.45181	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.073354	0.52532	D	0.000075	T	0.68888	0.3050	L	0.52573	1.65	0.42150	D	0.991558	D;D;P	0.89917	0.998;1.0;0.945	D;D;D	0.83275	0.952;0.996;0.941	T	0.71616	-0.4539	10	0.87932	D	0	.	11.8439	0.52371	0.0872:0.0:0.9128:0.0	.	50;50;50	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	V	50;50;50;50;22	ENSP00000328118:A50V;ENSP00000420070:A50V;ENSP00000388190:A50V;ENSP00000414131:A50V;ENSP00000417345:A22V	ENSP00000328118:A50V	A	-	2	0	MCF2L2	184590189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.004000	0.63966	1.129000	0.42072	0.557000	0.71058	GCC		0.433	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		3	93	0	0	0	1	0	3	93				
AMFR	267	broad.mit.edu	37	16	56396893	56396893	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:56396893G>A	ENST00000290649.5	-	14	2070	c.1860C>T	c.(1858-1860)gaC>gaT	p.D620D		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	620	VCP/p97-interacting motif (VIM).				aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GGGTCACGGGGTCAGAGGACG	0.567																																					Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1858-1860)gaC>gaT		autocrine motility factor receptor, E3 ubiquitin protein ligase							49.0	43.0	45.0					16																	56396893		2198	4300	6498	SO:0001819	synonymous_variant	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56396893G>A	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1860C>T	16.37:g.56396893G>A							p.D620D	NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN			14	2070	-			620					P26442|Q8IZ70	Silent	SNP	ENST00000290649.5	37	c.1860C>T	CCDS10758.1																																																																																				0.567	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			29	16	0	0	0	1	0	29	16				
MKNK2	2872	broad.mit.edu	37	19	2043519	2043519	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:2043519G>A	ENST00000591601.1	-	5	437	c.402C>T	c.(400-402)taC>taT	p.Y134Y	MKNK2_ENST00000541165.1_Silent_p.Y3Y|MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000588014.1_5'Flank|MKNK2_ENST00000309340.7_Silent_p.Y134Y|MKNK2_ENST00000250896.3_Silent_p.Y134Y			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGCACTGGTACAGCATCT	0.587																																						ENST00000250896.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.(400-402)taC>taT		MAP kinase interacting serine/threonine kinase 2							159.0	109.0	126.0					19																	2043519		2203	4300	6503	SO:0001819	synonymous_variant	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2043519G>A	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.402C>T	19.37:g.2043519G>A						MKNK2_ENST00000541165.1_Silent_p.Y3Y|MKNK2_ENST00000591601.1_Silent_p.Y134Y|MKNK2_ENST00000309340.7_Silent_p.Y134Y	p.Y134Y	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	646	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	134			Protein kinase.		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	c.402C>T	CCDS12080.1																																																																																				0.587	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		19	59	0	0	0	1	0	19	59				
KHDRBS2	202559	broad.mit.edu	37	6	62611199	62611199	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr6:62611199G>A	ENST00000281156.4	-	5	839	c.561C>T	c.(559-561)ggC>ggT	p.G187G		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TAATACCTCTGCCACGACCAG	0.403																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(559-561)ggC>ggT		KH domain containing, RNA binding, signal transduction associated 2							114.0	113.0	113.0					6																	62611199		2203	4300	6503	SO:0001819	synonymous_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62611199G>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.561C>T	6.37:g.62611199G>A							p.G187G	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	5	839	-			187					A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	c.561C>T	CCDS4963.1																																																																																				0.403	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		4	121	0	0	0	1	0	4	121				
RNGTT	8732	broad.mit.edu	37	6	89511325	89511325	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr6:89511325T>G	ENST00000369485.4	-	12	1482	c.1296A>C	c.(1294-1296)gaA>gaC	p.E432D	RNGTT_ENST00000369475.3_Missense_Mutation_p.E432D|RNGTT_ENST00000265607.6_Intron|RNGTT_ENST00000538899.1_Intron	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	432	GTase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CATGGCTCACTTCTTTGGCAA	0.323																																						ENST00000369485.4																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.(1294-1296)gaA>gaC		RNA guanylyltransferase and 5'-phosphatase							90.0	81.0	84.0					6																	89511325		2202	4299	6501	SO:0001583	missense	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89511325T>G	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1296A>C	6.37:g.89511325T>G	ENSP00000358497:p.Glu432Asp					RNGTT_ENST00000369475.3_Missense_Mutation_p.E432D|RNGTT_ENST00000265607.6_Intron|RNGTT_ENST00000538899.1_Intron	p.E432D	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	12	1482	-		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)	432			GTase.		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	c.1296A>C	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.266985	0.40095	.	.	ENSG00000111880	ENST00000369485;ENST00000536746;ENST00000369475	D;D	0.84370	-1.84;-1.84	5.32	5.32	0.75619	mRNA capping enzyme (1);	0.101382	0.64402	D	0.000002	T	0.65974	0.2743	N	0.24115	0.695	0.80722	D	1	B;B	0.15473	0.013;0.013	B;B	0.17722	0.019;0.019	T	0.64457	-0.6403	10	0.32370	T	0.25	.	14.2797	0.66202	0.0:0.0:0.0:1.0	.	432;432	Q5TCW7;O60942	.;MCE1_HUMAN	D	432;403;432	ENSP00000358497:E432D;ENSP00000358487:E432D	ENSP00000358487:E432D	E	-	3	2	RNGTT	89568044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.381000	0.66208	2.005000	0.58758	0.533000	0.62120	GAA		0.323	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			3	57	0	0	0	1	0	3	57				
ADH1B	125	broad.mit.edu	37	4	100237088	100237088	+	Silent	SNP	C	C	T	rs142861273		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:100237088C>T	ENST00000305046.8	-	5	601	c.534G>A	c.(532-534)tcG>tcA	p.S178S	ADH1B_ENST00000394887.3_Silent_p.S138S|ADH1B_ENST00000504498.1_5'Flank			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	178					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CATAACCAGTCGAGAATCCAC	0.498																																						ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(532-534)tcG>tcA		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)	C		0,4406		0,0,2203	125.0	120.0	122.0		534	-7.9	0.0	4	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ADH1B	NM_000668.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		178/376	100237088	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100237088C>T	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.534G>A	4.37:g.100237088C>T						ADH1B_ENST00000394887.3_Silent_p.S138S	p.S178S			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	5	601	-			178					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	c.534G>A	CCDS34033.1																																																																																				0.498	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		4	152	0	0	0	1	0	4	152				
KRT16	3868	broad.mit.edu	37	17	39768742	39768742	+	Missense_Mutation	SNP	C	C	T	rs62066634	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:39768742C>T	ENST00000301653.4	-	1	263	c.199G>A	c.(199-201)Ggc>Agc	p.G67S		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	67	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCGCCATAGCCGCCCCCCAGC	0.692													c|||	8	0.00159744	0.0	0.0	5008	,	,		15014	0.0		0.008	False		,,,				2504	0.0					ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(199-201)Ggc>Agc		keratin 16		C	SER/GLY	9,4359		0,9,2175	32.0	37.0	35.0		199	2.3	1.0	17	dbSNP_129	35	50,8502		0,50,4226	no	missense	KRT16	NM_005557.3	56	0,59,6401	TT,TC,CC		0.5847,0.206,0.4567	benign	67/474	39768742	59,12861	2184	4276	6460	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768742C>T	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.199G>A	17.37:g.39768742C>T	ENSP00000301653:p.Gly67Ser						p.G67S	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			1	263	-		Breast(137;0.000307)	67			Head.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.199G>A	CCDS11401.1	8	0.003663003663003663	0	0.0	0	0.0	0	0.0	8	0.010554089709762533	C	3.350	-0.132743	0.06711	0.00206	0.005847	ENSG00000186832	ENST00000301653	D	0.85088	-1.94	4.33	2.34	0.29019	.	0.000000	0.46442	D	0.000299	T	0.62925	0.2468	N	0.19112	0.55	0.43793	D	0.996331	B	0.18166	0.026	B	0.14578	0.011	T	0.55477	-0.8135	10	0.27785	T	0.31	.	5.7728	0.18263	0.1373:0.6286:0.0:0.2341	rs62066634	67	P08779	K1C16_HUMAN	S	67	ENSP00000301653:G67S	ENSP00000301653:G67S	G	-	1	0	KRT16	37022268	0.840000	0.29493	0.960000	0.40013	0.400000	0.30750	1.638000	0.37165	0.578000	0.29487	-0.448000	0.05591	GGC		0.692	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		5	14	0	0	0	1	0	5	14				
DIP2B	57609	broad.mit.edu	37	12	51086786	51086786	+	Missense_Mutation	SNP	G	G	A	rs558372817	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:51086786G>A	ENST00000301180.5	+	14	1743	c.1709G>A	c.(1708-1710)gGc>gAc	p.G570D		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	570						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTGTGGCACGGCATGTTTGCG	0.388																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(1708-1710)gGc>gAc		DIP2 disco-interacting protein 2 homolog B (Drosophila)							112.0	110.0	111.0					12																	51086786		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51086786G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1709G>A	12.37:g.51086786G>A	ENSP00000301180:p.Gly570Asp						p.G570D	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			14	1743	+			570					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.1709G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199627	0.94997	.	.	ENSG00000066084	ENST00000301180	T	0.41758	0.99	4.93	4.93	0.64822	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	M	0.72118	2.19	0.80722	D	1	D	0.55605	0.972	D	0.64687	0.928	T	0.67711	-0.5600	10	0.87932	D	0	-12.3393	18.3443	0.90315	0.0:0.0:1.0:0.0	.	570	Q9P265	DIP2B_HUMAN	D	570	ENSP00000301180:G570D	ENSP00000301180:G570D	G	+	2	0	DIP2B	49373053	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.158000	0.64917	2.577000	0.86979	0.650000	0.86243	GGC		0.388	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		3	64	0	0	0	1	0	3	64				
AP1S3	130340	broad.mit.edu	37	2	224629906	224629906	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:224629906C>T	ENST00000446015.2	-	4	486	c.453G>A	c.(451-453)atG>atA	p.M151I	AP1S3_ENST00000396653.2_3'UTR|AP1S3_ENST00000396654.2_Intron|AP1S3_ENST00000443700.1_Intron			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	151					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane coat (GO:0030117)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		atcTTTCTCCCATGGTTTGGG	0.373																																						ENST00000446015.2																			0				NS(1)|breast(1)|lung(2)	4						c.(451-453)atG>atA		adaptor-related protein complex 1, sigma 3 subunit							102.0	90.0	94.0					2																	224629906		1894	4117	6011	SO:0001583	missense	130340				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity	g.chr2:224629906C>T	AF393369	CCDS42827.1	2q36.3	2008-02-05			ENSG00000152056	ENSG00000152056			18971	protein-coding gene	gene with protein product		615781					Standard	NR_110905		Approved		uc002vnn.3	Q96PC3	OTTHUMG00000133165	ENST00000446015.2:c.453G>A	2.37:g.224629906C>T	ENSP00000388738:p.Met151Ile					AP1S3_ENST00000443700.1_Intron|AP1S3_ENST00000396653.2_3'UTR|AP1S3_ENST00000396654.2_Intron	p.M151I			Q96PC3	AP1S3_HUMAN		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)	4	486	-		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)	151					B4DQZ1|Q8WTY1|Q96DD1	Missense_Mutation	SNP	ENST00000446015.2	37	c.453G>A		.	.	.	.	.	.	.	.	.	.	C	6.705	0.498753	0.12762	.	.	ENSG00000152056	ENST00000446015	.	.	.	4.77	-2.16	0.07080	.	.	.	.	.	T	0.16557	0.0398	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26883	-1.0090	7	0.18710	T	0.47	.	3.921	0.09244	0.3024:0.3734:0.0:0.3242	.	151	Q96PC3	AP1S3_HUMAN	I	151	.	ENSP00000388738:M151I	M	-	3	0	AP1S3	224338150	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.885000	0.04161	-0.318000	0.08665	-0.897000	0.02905	ATG		0.373	AP1S3-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000383293.1			30	52	0	0	0	1	0	30	52				
GRK7	131890	broad.mit.edu	37	3	141497220	141497220	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr3:141497220C>T	ENST00000264952.2	+	1	231	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	32					protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AGAGCTGCAGCGGCGGCGGCG	0.682																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(94-96)Cgg>Tgg		G protein-coupled receptor kinase 7							21.0	27.0	25.0					3																	141497220		2197	4296	6493	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141497220C>T		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.94C>T	3.37:g.141497220C>T	ENSP00000264952:p.Arg32Trp						p.R32W	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			1	231	+			32						Missense_Mutation	SNP	ENST00000264952.2	37	c.94C>T	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.224758	0.58668	.	.	ENSG00000114124	ENST00000264952	T	0.62364	0.03	4.33	1.02	0.19986	.	0.119797	0.56097	N	0.000038	T	0.52208	0.1720	L	0.29908	0.895	0.28950	N	0.890478	D	0.69078	0.997	P	0.50378	0.639	T	0.52253	-0.8600	10	0.87932	D	0	-18.6382	6.552	0.22440	0.6018:0.2948:0.0:0.1033	.	32	Q8WTQ7	GRK7_HUMAN	W	32	ENSP00000264952:R32W	ENSP00000264952:R32W	R	+	1	2	GRK7	142979910	1.000000	0.71417	0.997000	0.53966	0.636000	0.38137	1.691000	0.37721	0.278000	0.22164	-0.140000	0.14226	CGG		0.682	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		15	47	0	0	0	1	0	15	47				
ZNF665	79788	broad.mit.edu	37	19	53668011	53668011	+	Missense_Mutation	SNP	C	C	G	rs201975096		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:53668011C>G	ENST00000600412.1	-	2	1652	c.1537G>C	c.(1537-1539)Gca>Cca	p.A513P	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.A578P			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	513					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACACTAAATGCTTTGCCGCAC	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21436	0.0		0.0	False		,,,				2504	0.0					ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(1537-1539)Gca>Cca		zinc finger protein 665		C	PRO/ALA	3,4403	6.2+/-15.9	0,3,2200	119.0	122.0	121.0		1732	-0.9	0.0	19		121	0,8600		0,0,4300	yes	missense	ZNF665	NM_024733.3	27	0,3,6500	GG,GC,CC		0.0,0.0681,0.0231	possibly-damaging	578/679	53668011	3,13003	2203	4300	6503	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668011C>G		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1537G>C	19.37:g.53668011C>G	ENSP00000469154:p.Ala513Pro					ZNF665_ENST00000396424.3_Missense_Mutation_p.A578P	p.A513P			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	1652	-			513					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.1537G>C		.	.	.	.	.	.	.	.	.	.	C	12.63	1.995297	0.35226	6.81E-4	0.0	ENSG00000197497	ENST00000396424	T	0.37752	1.18	2.55	-0.877	0.10621	.	.	.	.	.	T	0.41236	0.1150	L	0.39085	1.19	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.24225	-1.0166	9	0.72032	D	0.01	.	2.9711	0.05923	0.2112:0.2823:0.0:0.5065	.	578	Q9H7R5-2	.	P	578	ENSP00000379702:A578P	ENSP00000379702:A578P	A	-	1	0	ZNF665	58359823	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.077000	0.03416	0.005000	0.14708	-0.300000	0.09419	GCA		0.398	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		24	164	0	0	0	1	0	24	164				
FBN2	2201	broad.mit.edu	37	5	127714467	127714467	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:127714467T>A	ENST00000508053.1	-	18	2694	c.1720A>T	c.(1720-1722)Att>Ttt	p.I574F	FBN2_ENST00000511489.1_5'Flank|FBN2_ENST00000262464.4_Missense_Mutation_p.I574F|FBN2_ENST00000508989.1_Missense_Mutation_p.I541F			P35556	FBN2_HUMAN	fibrillin 2	574	EGF-like 7; 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)		GCCTTACCAATGCATGCTTGC	0.363																																						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.(1720-1722)Att>Ttt		fibrillin 2							93.0	88.0	89.0					5																	127714467		2203	4300	6503	SO:0001583	missense	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.chr5:127714467T>A	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.1720A>T	5.37:g.127714467T>A	ENSP00000424571:p.Ile574Phe					FBN2_ENST00000508989.1_Missense_Mutation_p.I541F|FBN2_ENST00000262464.4_Missense_Mutation_p.I574F	p.I574F			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)	18	2694	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	574			EGF-like 7; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1720A>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081357	0.55753	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.87966	-2.32;-2.32;-2.32	4.26	4.26	0.50523	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000004	D	0.92231	0.7536	M	0.79475	2.455	0.58432	D	0.999993	D;D	0.55800	0.963;0.973	P;D	0.64042	0.655;0.921	D	0.92507	0.6013	10	0.49607	T	0.09	.	14.4375	0.67293	0.0:0.0:0.0:1.0	.	541;574	D6RJI3;P35556	.;FBN2_HUMAN	F	574;574;541	ENSP00000262464:I574F;ENSP00000424571:I574F;ENSP00000425596:I541F	ENSP00000262464:I574F	I	-	1	0	FBN2	127742366	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.244000	0.43124	2.145000	0.66743	0.533000	0.62120	ATT		0.363	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		4	139	0	0	0	1	0	4	139				
HIRIP3	8479	broad.mit.edu	37	16	30006762	30006762	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:30006762G>A	ENST00000279392.3	-	2	918	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	INO80E_ENST00000304516.7_5'Flank|HIRIP3_ENST00000566471.1_Intron|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000563197.1_5'UTR|INO80E_ENST00000567254.1_5'Flank|HIRIP3_ENST00000564026.1_Missense_Mutation_p.R30W	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	30					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TACCTCCGCCGCACGATGGAA	0.652																																						ENST00000279392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(88-90)Cgg>Tgg		HIRA interacting protein 3							42.0	44.0	43.0					16																	30006762		2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30006762G>A	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.88C>T	16.37:g.30006762G>A	ENSP00000279392:p.Arg30Trp					HIRIP3_ENST00000564026.1_Missense_Mutation_p.R30W|INO80E_ENST00000563197.1_5'UTR|HIRIP3_ENST00000566471.1_Intron	p.R30W	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN			2	918	-			30					H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.88C>T	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700356	0.88924	.	.	ENSG00000149929	ENST00000279392;ENST00000352552	T	0.37752	1.18	5.25	4.26	0.50523	.	0.072624	0.52532	D	0.000068	T	0.56292	0.1975	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.989;0.995	T	0.58792	-0.7574	10	0.87932	D	0	-14.4619	13.1118	0.59277	0.0:0.0:0.8399:0.1601	.	30;30	B2R6A9;Q9BW71	.;HIRP3_HUMAN	W	30	ENSP00000279392:R30W	ENSP00000279392:R30W	R	-	1	2	HIRIP3	29914263	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	3.465000	0.53064	2.730000	0.93505	0.650000	0.86243	CGG		0.652	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		3	85	0	0	0	1	0	3	85				
L3MBTL2	83746	broad.mit.edu	37	22	41620063	41620063	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr22:41620063C>T	ENST00000216237.5	+	9	1140	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	328					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAGGGCATGCGGCTGGAAGT	0.597																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(982-984)Cgg>Tgg		l(3)mbt-like 2 (Drosophila)							119.0	79.0	92.0					22																	41620063		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41620063C>T	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.982C>T	22.37:g.41620063C>T	ENSP00000216237:p.Arg328Trp						p.R328W	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			9	1140	+			328					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.982C>T	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587614	0.86851	.	.	ENSG00000100395	ENST00000216237	T	0.33654	1.4	5.41	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.67296	-0.5706	10	0.72032	D	0.01	.	13.809	0.63250	0.2782:0.7217:0.0:0.0	.	328;328	Q969R5-3;Q969R5	.;LMBL2_HUMAN	W	328	ENSP00000216237:R328W	ENSP00000216237:R328W	R	+	1	2	L3MBTL2	39950009	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.942000	0.40243	1.252000	0.44001	0.655000	0.94253	CGG		0.597	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		3	76	0	0	0	1	0	3	76				
CYP1A2	1544	broad.mit.edu	37	15	75042332	75042332	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:75042332G>A	ENST00000343932.4	+	2	316	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	85					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CTCCACGCCCGTGCTGGTGCT	0.667																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(253-255)Gtg>Atg		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						50.0	45.0	47.0					15																	75042332		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042332G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.253G>A	15.37:g.75042332G>A	ENSP00000342007:p.Val85Met						p.V85M	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			2	316	+			85					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.253G>A	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.405816	0.83230	.	.	ENSG00000140505	ENST00000343932	T	0.69175	-0.38	4.98	4.98	0.66077	.	0.054494	0.64402	D	0.000001	D	0.83046	0.5169	M	0.88775	2.98	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	D	0.85526	0.1206	10	0.72032	D	0.01	.	11.8463	0.52387	0.0799:0.0:0.92:0.0	.	85	P05177-2	.	M	85	ENSP00000342007:V85M	ENSP00000342007:V85M	V	+	1	0	CYP1A2	72829385	1.000000	0.71417	0.958000	0.39756	0.913000	0.54294	7.541000	0.82084	2.580000	0.87095	0.561000	0.74099	GTG		0.667	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		30	57	0	0	0	1	0	30	57				
MUC6	4588	broad.mit.edu	37	11	1026378	1026378	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr11:1026378G>A	ENST00000421673.2	-	20	2545	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	832					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGACCCCCGAGAACTCACA	0.652																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2494-2496)tCg>tTg		mucin 6, oligomeric mucus/gel-forming							37.0	43.0	41.0					11																	1026378		1979	4150	6129	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1026378G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2495C>T	11.37:g.1026378G>A	ENSP00000406861:p.Ser832Leu						p.S832L	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	20	2545	-		all_cancers(49;3.3e-08)|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;0.229)	832					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.2495C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	8.230	0.804440	0.16467	.	.	ENSG00000184956	ENST00000421673	T	0.22336	1.96	3.48	2.47	0.30058	.	.	.	.	.	T	0.17365	0.0417	L	0.55213	1.73	0.09310	N	0.99999	P	0.39665	0.682	B	0.26094	0.066	T	0.07849	-1.0751	9	0.52906	T	0.07	.	11.3995	0.49862	0.0:0.618:0.382:0.0	.	832	Q6W4X9	MUC6_HUMAN	L	832	ENSP00000406861:S832L	ENSP00000406861:S832L	S	-	2	0	MUC6	1016378	0.010000	0.17322	0.017000	0.16124	0.009000	0.06853	0.561000	0.23515	0.782000	0.33613	0.561000	0.74099	TCG		0.652	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		17	22	0	0	0	1	0	17	22				
ZBTB6	10773	broad.mit.edu	37	9	125674357	125674357	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr9:125674357C>T	ENST00000373659.3	-	0	83					NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6						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						GCCATGATCACAATCTAAGCA	0.373																																						ENST00000373659.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11								zinc finger and BTB domain containing 6							56.0	61.0	59.0					9																	125674357		2202	4294	6496			10773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125674357C>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		9.37:g.125674357C>T								NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN			0	83	-								A8K8N6	Translation_Start_Site	SNP	ENST00000373659.3	37		CCDS6846.1																																																																																				0.373	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626		36	54	0	0	0	1	0	36	54				
NLRP11	204801	broad.mit.edu	37	19	56320376	56320376	+	Missense_Mutation	SNP	G	G	T	rs115243845		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:56320376G>T	ENST00000589093.1	-	3	1693	c.1600C>A	c.(1600-1602)Cgt>Agt	p.R534S	NLRP11_ENST00000592953.1_Missense_Mutation_p.R435S|NLRP11_ENST00000589824.2_Missense_Mutation_p.R534S|NLRP11_ENST00000360133.3_Missense_Mutation_p.R534S|NLRP11_ENST00000443188.1_Missense_Mutation_p.R534S			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	534							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.R534C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCCGGGTCACGGTCCAAATGT	0.448																																						ENST00000443188.1																			1	Substitution - Missense(1)	p.R534C(1)	upper_aerodigestive_tract(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(1600-1602)Cgt>Agt		NLR family, pyrin domain containing 11							160.0	150.0	153.0					19																	56320376		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320376G>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1600C>A	19.37:g.56320376G>T	ENSP00000466285:p.Arg534Ser					NLRP11_ENST00000592953.1_Missense_Mutation_p.R435S|NLRP11_ENST00000589824.2_Missense_Mutation_p.R534S|NLRP11_ENST00000360133.3_Missense_Mutation_p.R534S|NLRP11_ENST00000589093.1_Missense_Mutation_p.R534S	p.R534S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2310	-		Colorectal(82;0.0002)	534					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1600C>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	0.418	-0.909620	0.02434	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74526	-0.85;-0.78	1.74	-3.47	0.04753	.	.	.	.	.	T	0.51092	0.1654	N	0.22421	0.69	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.23018	0.013;0.043	T	0.36407	-0.9749	9	0.12103	T	0.63	.	3.6745	0.08287	0.0:0.2911:0.2226:0.4863	.	534;534	P59045;P59045-2	NAL11_HUMAN;.	S	534	ENSP00000409898:R534S;ENSP00000353251:R534S	ENSP00000353251:R534S	R	-	1	0	NLRP11	61012188	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.981000	0.00662	-0.971000	0.03564	-1.075000	0.02238	CGT		0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		4	312	1	0	3.59834e-05	1	3.74343e-05	4	312				
LRP2	4036	broad.mit.edu	37	2	170038807	170038807	+	Missense_Mutation	SNP	G	G	A	rs144973875		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:170038807G>A	ENST00000263816.3	-	51	10153	c.9868C>T	c.(9868-9870)Cgc>Tgc	p.R3290C	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3290					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R3290C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCATCCAGGCGGGCATCCAAC	0.502																																						ENST00000263816.3																			1	Substitution - Missense(1)	p.R3290C(1)	prostate(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(9868-9870)Cgc>Tgc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G	CYS/ARG	0,4406		0,0,2203	108.0	112.0	111.0		9868	-12.1	0.0	2	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	3290/4656	170038807	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170038807G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9868C>T	2.37:g.170038807G>A	ENSP00000263816:p.Arg3290Cys					LRP2_ENST00000461418.1_5'UTR	p.R3290C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	51	10153	-			3290					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9868C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888098	0.33348	0.0	1.16E-4	ENSG00000081479	ENST00000263816	D	0.96365	-3.99	6.03	-12.1	0.00011	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	1.295090	0.04551	N	0.389880	D	0.88463	0.6443	L	0.36672	1.1	0.32218	N	0.575648	B	0.28900	0.227	B	0.19148	0.024	T	0.73043	-0.4107	10	0.40728	T	0.16	.	0.3943	0.00415	0.3835:0.1711:0.1592:0.2862	.	3290	P98164	LRP2_HUMAN	C	3290	ENSP00000263816:R3290C	ENSP00000263816:R3290C	R	-	1	0	LRP2	169747053	0.003000	0.15002	0.000000	0.03702	0.322000	0.28314	0.138000	0.16016	-2.310000	0.00650	-0.140000	0.14226	CGC		0.502	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		30	104	0	0	0	1	0	30	104				
MYH13	8735	broad.mit.edu	37	17	10223518	10223518	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:10223518G>A	ENST00000418404.3	-	25	3463	c.3300C>T	c.(3298-3300)gaC>gaT	p.D1100D	RP11-401O9.4_ENST00000609088.1_RNA|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.D1100D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1100					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGACTTGTTCGTCATCTATTT	0.388																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(3298-3300)gaC>gaT		myosin, heavy chain 13, skeletal muscle							97.0	87.0	90.0					17																	10223518		1845	4089	5934	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10223518G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3300C>T	17.37:g.10223518G>A						MYH13_ENST00000570743.1_Silent_p.D1100D|MYH13_ENST00000252172.4_Silent_p.D1100D	p.D1100D			Q9UKX3	MYH13_HUMAN			25	3463	-			1100					O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.3300C>T	CCDS45613.1																																																																																				0.388	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		6	11	0	0	0	1	0	6	11				
NMBR	4829	broad.mit.edu	37	6	142397176	142397176	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr6:142397176C>T	ENST00000258042.1	-	3	922	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	261					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CAGGCGTTTCCGTGTTTCCAT	0.378																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(781-783)cGg>cAg		neuromedin B receptor							62.0	53.0	56.0					6																	142397176		2203	4299	6502	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142397176C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.782G>A	6.37:g.142397176C>T	ENSP00000258042:p.Arg261Gln						p.R261Q	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	3	922	-	Breast(32;0.155)		261					E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.782G>A	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608004	0.87258	.	.	ENSG00000135577	ENST00000258042	T	0.72394	-0.65	5.3	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.049561	0.85682	D	0.000000	T	0.81569	0.4850	M	0.89353	3.025	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.84903	0.0843	10	0.87932	D	0	-13.1294	12.3253	0.55007	0.0:0.8609:0.0:0.1391	.	261	P28336	NMBR_HUMAN	Q	261	ENSP00000258042:R261Q	ENSP00000258042:R261Q	R	-	2	0	NMBR	142438869	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.735000	0.68587	0.730000	0.32425	0.655000	0.94253	CGG		0.378	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			24	50	0	0	0	1	0	24	50				
ASB7	140460	broad.mit.edu	37	15	101170214	101170214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:101170214C>T	ENST00000332783.7	+	5	1569	c.784C>T	c.(784-786)Cga>Tga	p.R262*	ASB7_ENST00000343276.4_Nonsense_Mutation_p.R262*|ASB7_ENST00000558747.1_Intron	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	262					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TGGAAGTAGTCGACCATGTTT	0.358																																						ENST00000332783.7																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16						c.(784-786)Cga>Tga		ankyrin repeat and SOCS box containing 7							50.0	50.0	50.0					15																	101170214		2203	4300	6503	SO:0001587	stop_gained	140460				intracellular signal transduction			g.chr15:101170214C>T		CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"""Ankyrin repeat domain containing"""	17182	protein-coding gene	gene with protein product		615052	"""ankyrin repeat and SOCS box-containing 7"""				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.784C>T	15.37:g.101170214C>T	ENSP00000328327:p.Arg262*					ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Nonsense_Mutation_p.R262*	p.R262*	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		5	1569	+	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		262					A8K1E5|Q6GSJ6|Q7Z4S3	Nonsense_Mutation	SNP	ENST00000332783.7	37	c.784C>T	CCDS10387.1	.	.	.	.	.	.	.	.	.	.	C	43	10.089410	0.99333	.	.	ENSG00000183475	ENST00000332783;ENST00000343276	.	.	.	5.68	3.75	0.43078	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-0.1492	15.1408	0.72609	0.2583:0.7416:0.0:0.0	.	.	.	.	X	262	.	ENSP00000328327:R262X	R	+	1	2	ASB7	98987737	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.430000	0.59907	0.816000	0.34421	-0.188000	0.12872	CGA		0.358	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313617.1	NM_024708		30	46	0	0	0	1	0	30	46				
GATA6	2627	broad.mit.edu	37	18	19751314	19751314	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr18:19751314C>A	ENST00000269216.3	+	2	486	c.209C>A	c.(208-210)gCg>gAg	p.A70E	GATA6_ENST00000581694.1_Missense_Mutation_p.A70E|GATA6-AS1_ENST00000583490.1_lincRNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	70					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACGGAGGCGGCGGCCGGACCC	0.761																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(208-210)gCg>gAg		GATA binding protein 6							5.0	6.0	6.0					18																	19751314		1727	3676	5403	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19751314C>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.209C>A	18.37:g.19751314C>A	ENSP00000269216:p.Ala70Glu					GATA6_ENST00000581694.1_Missense_Mutation_p.A70E	p.A70E	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	486	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		70					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.209C>A	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	C	9.510	1.105593	0.20632	.	.	ENSG00000141448	ENST00000269216	D	0.98044	-4.68	3.17	0.647	0.17796	.	0.732852	0.12207	U	0.489712	D	0.90868	0.7131	N	0.08118	0	0.25264	N	0.989571	B	0.31100	0.308	B	0.27262	0.078	D	0.86292	0.1674	10	0.56958	D	0.05	-26.702	4.6898	0.12776	0.0:0.6144:0.2149:0.1706	.	70	Q92908	GATA6_HUMAN	E	70	ENSP00000269216:A70E	ENSP00000269216:A70E	A	+	2	0	GATA6	18005312	1.000000	0.71417	0.998000	0.56505	0.039000	0.13416	2.690000	0.47001	0.498000	0.27948	0.455000	0.32223	GCG		0.761	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		6	17	1	0	5.9392e-07	1	6.27997e-07	6	17				
SLC52A2	79581	broad.mit.edu	37	8	145583729	145583729	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:145583729G>A	ENST00000532887.1	+	3	1160	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	FBXL6_ENST00000455319.2_5'Flank|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A193T|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A193T|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A193T|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A105T|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A193T			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	193					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GCGTTTTCCCGCCAGCACCTT	0.662																																						ENST00000532887.1																			0											c.(577-579)Gcc>Acc		solute carrier family 52 (riboflavin transporter), member 2							53.0	56.0	55.0					8																	145583729		2203	4298	6501	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583729G>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.577G>A	8.37:g.145583729G>A	ENSP00000436768:p.Ala193Thr					SLC52A2_ENST00000402965.1_Missense_Mutation_p.A193T|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A105T|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A193T|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A193T|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A193T	p.A193T			Q9HAB3	RFT3_HUMAN			3	1160	+			193					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.577G>A	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458299	0.26248	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.62	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	L	0.36672	1.1	0.58432	D	0.999997	D	0.58620	0.983	B	0.41917	0.37	T	0.66019	-0.6027	9	.	.	.	.	14.3498	0.66694	0.0:0.0:1.0:0.0	.	193	Q9HAB3	RFT3_HUMAN	T	193;193;193;193;193;105	ENSP00000435820:A193T;ENSP00000434728:A193T;ENSP00000385961:A193T;ENSP00000436768:A193T;ENSP00000333638:A193T;ENSP00000440400:A105T	.	A	+	1	0	GPR172A	145554537	0.999000	0.42202	0.850000	0.33497	0.234000	0.25298	3.833000	0.55790	1.966000	0.57179	0.462000	0.41574	GCC		0.662	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		8	138	0	0	0	1	0	8	138				
IREB2	3658	broad.mit.edu	37	15	78778046	78778046	+	Splice_Site	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:78778046G>A	ENST00000258886.8	+	13	1722		c.e13-1			NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2						aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGGCTGTGCAGGTCTTTTGGC	0.363																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.e13-1		iron-responsive element binding protein 2							138.0	127.0	131.0					15																	78778046		2196	4293	6489	SO:0001630	splice_region_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78778046G>A	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1574-1G>A	15.37:g.78778046G>A								NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	13	1722	+								A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Splice_Site	SNP	ENST00000258886.8	37		CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758773	0.89843	.	.	ENSG00000136381	ENST00000258886	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IREB2	76565101	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.367000	0.97148	2.840000	0.97914	0.655000	0.94253	.		0.363	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136	Intron	3	150	0	0	0	1	0	3	150				
FASLG	356	broad.mit.edu	37	1	172628551	172628551	+	Silent	SNP	C	C	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:172628551C>A	ENST00000367721.2	+	1	394	c.210C>A	c.(208-210)ccC>ccA	p.P70P	FASLG_ENST00000340030.3_Silent_p.P70P	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	70	Pro-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						cgctgccaccCCTGAAGAAGA	0.617																																					Ovarian(28;486 876 30334 44033)	ENST00000367721.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						c.(208-210)ccC>ccA		Fas ligand (TNF superfamily, member 6)							102.0	94.0	97.0					1																	172628551		2203	4300	6503	SO:0001819	synonymous_variant	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172628551C>A	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.210C>A	1.37:g.172628551C>A						FASLG_ENST00000340030.3_Silent_p.P70P	p.P70P	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN			1	394	+			70			Pro-rich.		Q9BZP9	Silent	SNP	ENST00000367721.2	37	c.210C>A	CCDS1304.1																																																																																				0.617	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			9	20	1	0	3.86212e-05	1	3.98571e-05	9	20				
ARHGAP28	79822	broad.mit.edu	37	18	6873483	6873483	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr18:6873483C>T	ENST00000383472.4	+	8	1134	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	ARHGAP28_ENST00000418986.1_Missense_Mutation_p.R185C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.R344C|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R185C|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R180C|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.R185C|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.R167C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.R292C			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	344					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GAAGAAAATCCGCCATCTCTC	0.368																																						ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(553-555)Cgc>Tgc		Rho GTPase activating protein 28							154.0	155.0	154.0					18																	6873483		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6873483C>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1030C>T	18.37:g.6873483C>T	ENSP00000372964:p.Arg344Cys					ARHGAP28_ENST00000383472.4_Missense_Mutation_p.R344C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.R344C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.R292C|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R185C|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.R185C|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.R167C|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R180C|RP11-146G7.2_ENST00000583659.1_RNA	p.R185C	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			7	770	+		Colorectal(10;0.168)	167					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.553C>T		.	.	.	.	.	.	.	.	.	.	C	15.25	2.777025	0.49786	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.09723	3.12;3.07;3.02;3.03;3.02;2.95	5.26	5.26	0.73747	.	0.050237	0.85682	D	0.000000	T	0.06917	0.0176	L	0.34521	1.04	0.58432	D	0.999994	P;B;B;P	0.40197	0.706;0.238;0.351;0.698	B;B;B;B	0.31614	0.059;0.029;0.133;0.106	T	0.30387	-0.9980	10	0.30854	T	0.27	.	8.5948	0.33710	0.1525:0.7707:0.0:0.0768	.	344;176;185;292	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	C	344;292;185;180;185;185;176;167	ENSP00000382963:R344C;ENSP00000262227:R292C;ENSP00000392660:R185C;ENSP00000437262:R180C;ENSP00000313506:R185C;ENSP00000406907:R185C	ENSP00000262227:R292C	R	+	1	0	ARHGAP28	6863483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.161000	0.42358	2.614000	0.88457	0.650000	0.86243	CGC		0.368	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		3	94	0	0	0	1	0	3	94				
IGHM	3507	broad.mit.edu	37	14	106320535	106320535	+	RNA	SNP	G	G	A	rs372559102		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr14:106320535G>A	ENST00000390559.2	-	0	1274							P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CGGTCCTCTCGGTGACCCTGT	0.622																																						ENST00000390559.2																			0															G		0,4166		0,0,2083	86.0	94.0	91.0			-0.2	1.0	14		91	1,8359		0,1,4179	no	intergenic				0,1,6262	AA,AG,GG		0.012,0.0,0.0080			106320535	1,12525	2083	4180	6263			0							g.chr14:106320535G>A	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106320535G>A														0	1274	-								P20769	RNA	SNP	ENST00000390559.2	37																																																																																						0.622	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		46	71	0	0	0	1	0	46	71				
GPR98	84059	broad.mit.edu	37	5	89954001	89954001	+	Missense_Mutation	SNP	G	G	C	rs369994629		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:89954001G>C	ENST00000405460.2	+	21	4754	c.4658G>C	c.(4657-4659)cGt>cCt	p.R1553P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1553					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGGAGCTCGTATTTCGGAA	0.348																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(4657-4659)cGt>cCt		G protein-coupled receptor 98							92.0	92.0	92.0					5																	89954001		1817	4079	5896	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89954001G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4658G>C	5.37:g.89954001G>C	ENSP00000384582:p.Arg1553Pro						p.R1553P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	21	4754	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1553					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.4658G>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560548	0.65538	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28895	1.59	5.86	4.94	0.65067	.	0.146153	0.64402	D	0.000008	T	0.42177	0.1191	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.36261	-0.9755	10	0.72032	D	0.01	.	11.8879	0.52613	0.0903:0.0:0.9097:0.0	.	1553	Q8WXG9	GPR98_HUMAN	P	1553	ENSP00000384582:R1553P	ENSP00000296619:R1553P	R	+	2	0	GPR98	89989757	1.000000	0.71417	0.993000	0.49108	0.414000	0.31173	6.452000	0.73485	1.322000	0.45245	0.650000	0.86243	CGT		0.348	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		37	83	0	0	0	1	0	37	83				
GABRA4	2557	broad.mit.edu	37	4	46995377	46995377	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:46995377C>T	ENST00000264318.3	-	1	1047	c.65G>A	c.(64-66)cGc>cAc	p.R22H	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	22					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GCACAGGAAGCGCAGGAGGGC	0.592																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(64-66)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						112.0	108.0	109.0					4																	46995377		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46995377C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.65G>A	4.37:g.46995377C>T	ENSP00000264318:p.Arg22His					GABRA4_ENST00000509316.1_5'UTR	p.R22H	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			1	1047	-			22					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.65G>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541364	0.27563	.	.	ENSG00000109158	ENST00000264318	T	0.79845	-1.31	4.72	-6.48	0.01896	.	0.508381	0.21690	N	0.070586	T	0.46190	0.1380	N	0.03608	-0.345	0.20975	N	0.999818	B	0.02656	0.0	B	0.01281	0.0	T	0.50268	-0.8848	10	0.13108	T	0.6	.	4.731	0.12964	0.2317:0.2026:0.0:0.5658	.	22	P48169	GBRA4_HUMAN	H	22	ENSP00000264318:R22H	ENSP00000264318:R22H	R	-	2	0	GABRA4	46690134	1.000000	0.71417	0.070000	0.20053	0.930000	0.56654	0.689000	0.25437	-1.379000	0.02118	-0.291000	0.09656	CGC		0.592	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			51	85	0	0	0	1	0	51	85				
ZNF551	90233	broad.mit.edu	37	19	58199100	58199100	+	Missense_Mutation	SNP	G	G	A	rs138423649		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:58199100G>A	ENST00000282296.5	+	3	1642	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R470H|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCTTTAGCCGCAAATTTATC	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21000	0.0		0.0	False		,,,				2504	0.0					ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1456-1458)cGc>cAc		zinc finger protein 551		G	HIS/ARG	0,4406		0,0,2203	77.0	75.0	76.0		1409	-3.3	0.0	19	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	no	missense	ZNF551	NM_138347.3	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	470/655	58199100	3,13003	2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199100G>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1457G>A	19.37:g.58199100G>A	ENSP00000282296:p.Arg486His					ZNF551_ENST00000356715.4_Missense_Mutation_p.R470H|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron	p.R486H	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1642	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	486					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1457G>A	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.294|4.294	0.053749|0.053749	0.08291|0.08291	0.0|0.0	3.49E-4|3.49E-4	ENSG00000228006|ENSG00000204519	ENST00000541705|ENST00000356715;ENST00000282296;ENST00000359821	.|.	.|.	.|.	2.48|2.48	-3.34|-3.34	0.04943|0.04943	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	4.615670|.	0.00805|.	U|.	0.001456|.	T|T	0.27098|0.27098	0.0664|0.0664	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	.|B	.|0.15719	.|0.014	.|B	.|0.06405	.|0.002	T|T	0.32534|0.32534	-0.9903|-0.9903	7|8	0.19590|0.13108	T|T	0.45|0.6	.|.	6.9251|6.9251	0.24410|0.24410	0.4892:0.0:0.5108:0.0|0.4892:0.0:0.5108:0.0	.|.	.|486	.|Q7Z340	.|ZN551_HUMAN	V|H	102|486;470;269	.|.	ENSP00000437781:A102V|ENSP00000282296:R470H	A|R	-|+	2|2	0|0	AC004017.1|ZNF551	62890912|62890912	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-4.824000|-4.824000	0.00181|0.00181	-0.805000|-0.805000	0.04404|0.04404	-0.300000|-0.300000	0.09419|0.09419	GCG|CGC		0.423	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		4	147	0	0	0	1	0	4	147				
CYLC1	1538	broad.mit.edu	37	X	83129576	83129576	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:83129576G>T	ENST00000329312.4	+	4	1897	c.1860G>T	c.(1858-1860)aaG>aaT	p.K620N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	620	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CATCACCAAAGGTCAGACGTC	0.433																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1858-1860)aaG>aaT		cylicin, basic protein of sperm head cytoskeleton 1							72.0	61.0	64.0					X																	83129576		2202	4299	6501	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129576G>T	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1860G>T	X.37:g.83129576G>T	ENSP00000331556:p.Lys620Asn						p.K620N	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1897	+			620			Pro-rich.		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1860G>T	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	1.687	-0.504963	0.04261	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.56941	0.43	3.48	2.6	0.31112	.	.	.	.	.	T	0.57344	0.2047	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.997;0.999	D;D	0.70016	0.952;0.967	T	0.46816	-0.9164	9	0.72032	D	0.01	-0.6308	8.93	0.35663	0.1255:0.0:0.8745:0.0	.	620;620	P35663;F5H4V5	CYLC1_HUMAN;.	N	620	ENSP00000331556:K620N	ENSP00000331556:K620N	K	+	3	2	CYLC1	83016232	0.037000	0.19845	0.003000	0.11579	0.024000	0.10985	0.717000	0.25851	0.317000	0.23160	-1.231000	0.01572	AAG		0.433	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		32	51	1	0	3.86903e-22	1	4.26585e-22	32	51				
COL6A3	1293	broad.mit.edu	37	2	238274357	238274357	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:238274357G>A	ENST00000295550.4	-	12	6274	c.5822C>T	c.(5821-5823)tCg>tTg	p.S1941L	COL6A3_ENST00000347401.3_Missense_Mutation_p.S1740L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1741L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S1334L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1735L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1735L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1941	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGTCCGGCGAGGACTGTCT	0.552																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5821-5823)tCg>tTg		collagen, type VI, alpha 3							69.0	68.0	68.0					2																	238274357		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238274357G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5822C>T	2.37:g.238274357G>A	ENSP00000295550:p.Ser1941Leu					COL6A3_ENST00000409809.1_Missense_Mutation_p.S1735L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S1334L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1735L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1740L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1741L	p.S1941L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	12	6274	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1941			Nonhelical region.|VWFA 10.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5822C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	9.418	1.082176	0.20309	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.06	5.06	0.68205	von Willebrand factor, type A (2);	0.185154	0.27991	N	0.017023	T	0.59702	0.2213	M	0.65975	2.015	0.22468	N	0.999073	D;D;P	0.71674	0.998;0.998;0.804	P;P;B	0.59889	0.805;0.865;0.113	T	0.55736	-0.8094	10	0.59425	D	0.04	.	17.0589	0.86541	0.0:0.0:1.0:0.0	.	1334;1735;1941	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	L	1941;1740;1735;1334;1735;1741	ENSP00000295550:S1941L;ENSP00000315609:S1740L;ENSP00000315873:S1735L;ENSP00000418285:S1334L;ENSP00000386844:S1735L;ENSP00000295546:S1741L	ENSP00000295550:S1941L	S	-	2	0	COL6A3	237939096	0.958000	0.32768	0.153000	0.22517	0.431000	0.31685	4.515000	0.60489	2.545000	0.85829	0.650000	0.86243	TCG		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		31	52	0	0	0	1	0	31	52				
CRY1	1407	broad.mit.edu	37	12	107393851	107393851	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:107393851C>T	ENST00000008527.5	-	6	1561	c.694G>A	c.(694-696)Gca>Aca	p.A232T		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	232					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCAAAATTTGCCACCCAAGCC	0.348																																						ENST00000008527.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(694-696)Gca>Aca		cryptochrome 1 (photolyase-like)							69.0	70.0	69.0					12																	107393851		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107393851C>T	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.694G>A	12.37:g.107393851C>T	ENSP00000008527:p.Ala232Thr						p.A232T	NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN			6	1561	-			232			FAD-binding.			Missense_Mutation	SNP	ENST00000008527.5	37	c.694G>A	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519145	0.85495	.	.	ENSG00000008405	ENST00000008527	.	.	.	6.0	6.0	0.97389	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	M	0.71206	2.165	0.80722	D	1	P	0.36171	0.541	B	0.37550	0.253	T	0.64127	-0.6480	9	0.35671	T	0.21	-17.2375	20.4946	0.99205	0.0:1.0:0.0:0.0	.	232	Q16526	CRY1_HUMAN	T	232	.	ENSP00000008527:A232T	A	-	1	0	CRY1	105917981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.846000	0.97976	0.650000	0.86243	GCA		0.348	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		4	75	0	0	0	1	0	4	75				
TLX3	30012	broad.mit.edu	37	5	170738554	170738554	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:170738554C>A	ENST00000296921.5	+	3	909	c.827C>A	c.(826-828)cCc>cAc	p.P276H		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	276					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AATCTGCAGCCCTGGGAGGAG	0.637			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)	ENST00000296921.5				Dom	yes		5	5q35.1	30012	T	"""T-cell leukemia, homeobox 3 (HOX11L2)"""			L	BCL11B		T-ALL		0				central_nervous_system(1)	1						c.(826-828)cCc>cAc		T-cell leukemia homeobox 3							64.0	51.0	55.0					5																	170738554		2203	4300	6503	SO:0001583	missense	30012					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:170738554C>A	AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"""Homeoboxes / ANTP class : NKL subclass"""	13532	protein-coding gene	gene with protein product		604640	"""homeo box 11-like 2"", ""T-cell leukemia, homeobox 3"""	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.827C>A	5.37:g.170738554C>A	ENSP00000296921:p.Pro276His						p.P276H	NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	909	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	276					Q96AD3	Missense_Mutation	SNP	ENST00000296921.5	37	c.827C>A	CCDS34288.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297041	0.81025	.	.	ENSG00000164438	ENST00000296921	D	0.95103	-3.61	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	M	0.85710	2.77	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.98331	1.0533	10	0.87932	D	0	.	16.334	0.83052	0.0:1.0:0.0:0.0	.	276	O43711	TLX3_HUMAN	H	276	ENSP00000296921:P276H	ENSP00000296921:P276H	P	+	2	0	TLX3	170671159	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.350000	0.79385	1.986000	0.57962	0.491000	0.48974	CCC		0.637	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3			11	15	1	0	4.3838e-07	1	4.67364e-07	11	15				
POM121C	100101267	broad.mit.edu	37	7	75044431	75044431	+	IGR	SNP	C	C	T	rs236650	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:75044431C>T	ENST00000257665.5	-	0	5700				NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C						mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GCTGGACCCCCGCCAGGCTCC	0.632													.|||	1628	0.32508	0.7042	0.2133	5008	,	,		14576	0.0694		0.2058	False		,,,				2504	0.2781					ENST00000393633.2																			0				large_intestine(1)|lung(1)	2																																												SO:0001628	intergenic_variant	0							g.chr7:75044431C>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238		7.37:g.75044431C>T														0	3599	+								O75115|Q9Y2N3|Q9Y4S7	RNA	SNP	ENST00000257665.5	37																																																																																						0.632	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		14	49	0	0	0	1	0	14	49				
KIAA0232	9778	broad.mit.edu	37	4	6865324	6865324	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:6865324C>T	ENST00000307659.5	+	7	3670	c.3215C>T	c.(3214-3216)cCg>cTg	p.P1072L	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1072L	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1072							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGTTTTAAACCGAAATCAATC	0.418																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(3214-3216)cCg>cTg		KIAA0232							96.0	90.0	92.0					4																	6865324		1875	4103	5978	SO:0001583	missense	9778						ATP binding	g.chr4:6865324C>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3215C>T	4.37:g.6865324C>T	ENSP00000303928:p.Pro1072Leu					KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1072L	p.P1072L	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	3670	+			1072					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.3215C>T	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083345	0.76642	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.78020	0.4218	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79633	-0.1722	9	0.87932	D	0	-16.4125	18.8694	0.92306	0.0:1.0:0.0:0.0	.	1072	Q92628	K0232_HUMAN	L	1072	.	ENSP00000303928:P1072L	P	+	2	0	KIAA0232	6916225	1.000000	0.71417	0.947000	0.38551	0.996000	0.88848	7.237000	0.78164	2.765000	0.95021	0.655000	0.94253	CCG		0.418	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		38	100	0	0	0	1	0	38	100				
ZC3HAV1L	92092	broad.mit.edu	37	7	138713589	138713589	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:138713589A>T	ENST00000275766.1	-	3	630	c.619T>A	c.(619-621)Tgc>Agc	p.C207S		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	207										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GACCGTTTGCAGGTCTGAAGT	0.433																																						ENST00000275766.1																			0				NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(619-621)Tgc>Agc		zinc finger CCCH-type, antiviral 1-like							109.0	100.0	103.0					7																	138713589		2203	4300	6503	SO:0001583	missense	92092							g.chr7:138713589A>T	BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 39"""	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.619T>A	7.37:g.138713589A>T	ENSP00000275766:p.Cys207Ser						p.C207S	NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN			3	630	-			207					Q8WUD9	Missense_Mutation	SNP	ENST00000275766.1	37	c.619T>A	CCDS5850.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277335	0.80580	.	.	ENSG00000146858	ENST00000275766	T	0.47177	0.85	5.62	5.62	0.85841	.	0.114632	0.40302	N	0.001139	T	0.52725	0.1752	L	0.29908	0.895	0.40939	D	0.984452	D	0.69078	0.997	P	0.58928	0.848	T	0.58216	-0.7675	10	0.87932	D	0	.	14.0747	0.64882	1.0:0.0:0.0:0.0	.	207	Q96H79	ZCCHL_HUMAN	S	207	ENSP00000275766:C207S	ENSP00000275766:C207S	C	-	1	0	ZC3HAV1L	138364129	1.000000	0.71417	0.862000	0.33874	0.880000	0.50808	5.554000	0.67294	2.271000	0.75665	0.528000	0.53228	TGC		0.433	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	NM_080660		3	87	0	0	0	1	0	3	87				
NLRP11	204801	broad.mit.edu	37	19	56321356	56321356	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:56321356C>G	ENST00000589093.1	-	3	713	c.620G>C	c.(619-621)tGg>tCg	p.W207S	NLRP11_ENST00000592953.1_Missense_Mutation_p.W108S|NLRP11_ENST00000589824.2_Missense_Mutation_p.W207S|NLRP11_ENST00000360133.3_Missense_Mutation_p.W207S|NLRP11_ENST00000443188.1_Missense_Mutation_p.W207S			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	207	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCCGTCAGGCCAGTCCTTGGC	0.498																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(619-621)tGg>tCg		NLR family, pyrin domain containing 11							94.0	89.0	91.0					19																	56321356		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56321356C>G	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.620G>C	19.37:g.56321356C>G	ENSP00000466285:p.Trp207Ser					NLRP11_ENST00000592953.1_Missense_Mutation_p.W108S|NLRP11_ENST00000589824.2_Missense_Mutation_p.W207S|NLRP11_ENST00000360133.3_Missense_Mutation_p.W207S|NLRP11_ENST00000589093.1_Missense_Mutation_p.W207S	p.W207S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	1330	-		Colorectal(82;0.0002)	207			NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.620G>C	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389255	0.42410	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.78595	-1.19;-1.19	2.48	2.48	0.30137	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.84629	0.5514	M	0.76938	2.355	0.40883	D	0.98401	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.84403	0.0561	9	0.87932	D	0	.	5.2631	0.15584	0.0:0.8374:0.0:0.1626	.	207;207	P59045;P59045-2	NAL11_HUMAN;.	S	207	ENSP00000409898:W207S;ENSP00000353251:W207S	ENSP00000353251:W207S	W	-	2	0	NLRP11	61013168	0.553000	0.26513	0.676000	0.29932	0.045000	0.14185	0.717000	0.25851	1.696000	0.51158	0.609000	0.83330	TGG		0.498	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		44	66	0	0	0	1	0	44	66				
ZFP69	339559	broad.mit.edu	37	1	40960602	40960602	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:40960602G>C	ENST00000372706.1	+	6	1458	c.452G>C	c.(451-453)aGt>aCt	p.S151T	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.S151T			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GACTTGAAGAGTAAAATAGAA	0.333																																						ENST00000372706.1																			0											c.(451-453)aGt>aCt		ZFP69 zinc finger protein							44.0	47.0	46.0					1																	40960602		2197	4295	6492	SO:0001583	missense	339559							g.chr1:40960602G>C	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.452G>C	1.37:g.40960602G>C	ENSP00000361791:p.Ser151Thr					RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.S151T	p.S151T							6	1458	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.452G>C	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.492390	0.00159	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.04317	3.65;3.65	4.24	-0.877	0.10621	.	0.690911	0.12660	N	0.449720	T	0.02610	0.0079	N	0.25332	0.735	0.21527	N	0.999652	B	0.02656	0.0	B	0.04013	0.001	T	0.48103	-0.9064	10	0.06099	T	0.92	-2.7544	5.0722	0.14613	0.2552:0.2907:0.4541:0.0	.	151	Q49AA0	ZN642_HUMAN	T	151	ENSP00000361791:S151T;ENSP00000361790:S151T	ENSP00000361790:S151T	S	+	2	0	ZNF642	40733189	0.971000	0.33674	0.803000	0.32268	0.055000	0.15305	0.367000	0.20382	-0.129000	0.11620	0.563000	0.77884	AGT		0.333	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		3	81	0	0	0	1	0	3	81				
ADCY4	196883	broad.mit.edu	37	14	24793338	24793338	+	Missense_Mutation	SNP	C	C	T	rs374008973		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr14:24793338C>T	ENST00000310677.4	-	17	2089	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	ADCY4_ENST00000554068.2_Missense_Mutation_p.R659Q|ADCY4_ENST00000418030.2_Missense_Mutation_p.R659Q|ADCY4_ENST00000396747.3_Missense_Mutation_p.R352Q	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	659					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGTCCTGGTCGTGTGGCCAC	0.622																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1975-1977)cGa>cAa		adenylate cyclase 4		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	69.0	63.0	65.0		1976,1976,1976	4.0	1.0	14		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ADCY4	NM_001198568.1,NM_001198592.1,NM_139247.3	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	659/1078,659/1078,659/1078	24793338	1,13005	2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24793338C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1976G>A	14.37:g.24793338C>T	ENSP00000312126:p.Arg659Gln					ADCY4_ENST00000396747.3_Missense_Mutation_p.R352Q|ADCY4_ENST00000418030.2_Missense_Mutation_p.R659Q|ADCY4_ENST00000554068.2_Missense_Mutation_p.R659Q	p.R659Q	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	17	2089	-			659					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.1976G>A	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236286	0.39498	0.0	1.16E-4	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.80393	-1.13;-1.13;-1.13;-1.37	4.93	4.04	0.47022	.	0.170847	0.27223	N	0.020345	T	0.75110	0.3805	L	0.61387	1.9	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.60444	-0.7262	10	0.22109	T	0.4	.	10.8351	0.46683	0.0:0.9084:0.0:0.0916	.	659	Q8NFM4	ADCY4_HUMAN	Q	659;659;659;352	ENSP00000312126:R659Q;ENSP00000452250:R659Q;ENSP00000393177:R659Q;ENSP00000379971:R352Q	ENSP00000312126:R659Q	R	-	2	0	ADCY4	23863178	0.000000	0.05858	0.981000	0.43875	0.995000	0.86356	0.289000	0.18957	1.313000	0.45069	0.563000	0.77884	CGA		0.622	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			18	46	0	0	0	1	0	18	46				
EGFR	1956	broad.mit.edu	37	7	55241722	55241722	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:55241722G>A	ENST00000275493.2	+	18	2347	c.2170G>A	c.(2170-2172)Ggc>Agc	p.G724S	EGFR_ENST00000454757.2_Missense_Mutation_p.G671S|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.G679S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	724	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> S (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G724S(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CGGTGCGTTCGGCACGGTGTA	0.562		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		3	Substitution - Missense(3)	p.G724S(3)	lung(2)|large_intestine(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2170-2172)Ggc>Agc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						53.0	55.0	54.0					7																	55241722		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241722G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2170G>A	7.37:g.55241722G>A	ENSP00000275493:p.Gly724Ser	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000455089.1_Missense_Mutation_p.G679S|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G671S	p.G724S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		18	2347	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		724		G -> S (found in a lung cancer sample).	Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2170G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835979	0.71373	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.78246	-1.16;-1.16;-1.16	5.5	5.5	0.81552	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89536	0.6743	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.90913	0.4777	10	0.87932	D	0	.	17.9478	0.89044	0.0:0.0:1.0:0.0	.	679;724	Q504U8;P00533	.;EGFR_HUMAN	S	679;594;724;671	ENSP00000415559:G679S;ENSP00000275493:G724S;ENSP00000395243:G671S	ENSP00000275493:G724S	G	+	1	0	EGFR	55209216	1.000000	0.71417	0.919000	0.36401	0.007000	0.05969	9.772000	0.98984	2.562000	0.86427	0.563000	0.77884	GGC		0.562	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		123	1881	0	0	0	1	0	123	1881				
MAP2	4133	broad.mit.edu	37	2	210558554	210558554	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:210558554A>G	ENST00000360351.4	+	7	2166	c.1660A>G	c.(1660-1662)Aca>Gca	p.T554A	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.T550A|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	554					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGGAGCTGCAACATCAGCTGA	0.368																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(1660-1662)Aca>Gca		microtubule-associated protein 2	Estramustine(DB01196)						108.0	106.0	106.0					2																	210558554		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210558554A>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1660A>G	2.37:g.210558554A>G	ENSP00000353508:p.Thr554Ala					MAP2_ENST00000447185.1_Missense_Mutation_p.T550A|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	p.T554A	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2166	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	554					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1660A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	0.661	-0.805700	0.02819	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.22539	1.95;1.95	6.16	-7.17	0.01511	MAP2/Tau projection (1);	0.735264	0.13023	N	0.419955	T	0.09291	0.0229	N	0.15975	0.35	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.30060	-0.9991	10	0.27785	T	0.31	0.3342	11.2713	0.49140	0.1698:0.2381:0.5921:0.0	.	550;554	P11137-3;P11137	.;MAP2_HUMAN	A	554;550	ENSP00000353508:T554A;ENSP00000392164:T550A	ENSP00000353508:T554A	T	+	1	0	MAP2	210266799	0.000000	0.05858	0.004000	0.12327	0.119000	0.20118	-1.368000	0.02580	-0.890000	0.03945	-0.256000	0.11100	ACA		0.368	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		5	142	0	0	0	1	0	5	142				
DMBT1	1755	broad.mit.edu	37	10	124345695	124345695	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr10:124345695G>A	ENST00000338354.3	+	16	1685	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	DMBT1_ENST00000368955.3_Missense_Mutation_p.D517N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D527N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.D517N|DMBT1_ENST00000330163.4_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	527	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.D527Y(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGACACCAATGATGCCAATGT	0.612																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			3	Substitution - Missense(3)	p.D527Y(3)	cervix(3)	breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(1579-1581)Gat>Aat		deleted in malignant brain tumors 1							293.0	225.0	248.0					10																	124345695		2062	4180	6242	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124345695G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1579G>A	10.37:g.124345695G>A	ENSP00000342210:p.Asp527Asn					DMBT1_ENST00000344338.3_Missense_Mutation_p.D517N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.D517N|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.D527N	p.D527N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			16	1685	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	527			SRCR 4.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.1579G>A		.	.	.	.	.	.	.	.	.	.	G	16.95	3.264109	0.59431	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	4.5	4.5	0.54988	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.59783	0.2219	M	0.84585	2.705	0.80722	D	1	D;D;D	0.60160	0.983;0.983;0.987	P;P;P	0.56916	0.71;0.71;0.809	T	0.69390	-0.5158	9	0.62326	D	0.03	.	17.2551	0.87053	0.0:0.0:1.0:0.0	.	527;517;527	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	N	527;527;527;527;527;527;517;527;517	ENSP00000342210:D527N;ENSP00000343175:D517N;ENSP00000357905:D527N;ENSP00000357951:D517N	ENSP00000342210:D527N	D	+	1	0	DMBT1	124335685	1.000000	0.71417	0.043000	0.18650	0.790000	0.44656	6.170000	0.71920	2.067000	0.61834	0.456000	0.33151	GAT		0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		6	323	0	0	0	1	0	6	323				
IQCA1	79781	broad.mit.edu	37	2	237308067	237308067	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:237308067T>C	ENST00000409907.3	-	9	1473	c.1199A>G	c.(1198-1200)aAc>aGc	p.N400S	IQCA1_ENST00000309507.5_Missense_Mutation_p.N396S|IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000431676.2_Missense_Mutation_p.N359S	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	400	Lys-rich.						ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTGTATGCGTTACATCCTTC	0.463																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(1198-1200)aAc>aGc		IQ motif containing with AAA domain 1							155.0	152.0	153.0					2																	237308067		1962	4161	6123	SO:0001583	missense	79781						ATP binding	g.chr2:237308067T>C	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1199A>G	2.37:g.237308067T>C	ENSP00000387347:p.Asn400Ser					IQCA1_ENST00000431676.2_Missense_Mutation_p.N359S|IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000309507.5_Missense_Mutation_p.N396S	p.N400S			Q86XH1	IQCA1_HUMAN			9	1473	-			400			Lys-rich.		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.1199A>G	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.553340	0.00918	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.93366	-3.08;-3.08;-3.21	3.74	1.38	0.22167	.	0.330956	0.25827	N	0.028050	D	0.83271	0.5218	N	0.16656	0.425	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.67960	-0.5535	10	0.19147	T	0.46	.	6.6776	0.23103	0.0:0.3201:0.0:0.6799	.	359;407;400	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	S	400;407;396;359;396	ENSP00000387347:N400S;ENSP00000311951:N396S;ENSP00000407213:N359S	ENSP00000254653:N400S	N	-	2	0	IQCA1	236972806	0.000000	0.05858	0.001000	0.08648	0.193000	0.23685	0.101000	0.15251	0.293000	0.22520	0.533000	0.62120	AAC		0.463	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		5	109	0	0	0	1	0	5	109				
ZMYM3	9203	broad.mit.edu	37	X	70464671	70464671	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:70464671G>C	ENST00000353904.2	-	19	3267	c.3080C>G	c.(3079-3081)aCt>aGt	p.T1027S	ZMYM3_ENST00000373998.1_Missense_Mutation_p.T1015S|ZMYM3_ENST00000314425.5_Missense_Mutation_p.T1027S|ZMYM3_ENST00000373988.1_Missense_Mutation_p.T1029S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.T1029S	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1027					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T1027fs*9(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GTCTTGTTCAGTAGACACATC	0.478																																						ENST00000373998.1																			1	Deletion - Frameshift(1)	p.T1027fs*9(1)	prostate(1)	breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3043-3045)aCt>aGt		zinc finger, MYM-type 3							80.0	56.0	64.0					X																	70464671		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70464671G>C	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3080C>G	X.37:g.70464671G>C	ENSP00000343909:p.Thr1027Ser					ZMYM3_ENST00000373984.3_Missense_Mutation_p.T1029S|ZMYM3_ENST00000353904.2_Missense_Mutation_p.T1027S|ZMYM3_ENST00000314425.5_Missense_Mutation_p.T1027S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.T1029S	p.T1015S	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			19	3741	-	Renal(35;0.156)		1027					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3044C>G	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	11.25	1.584491	0.28268	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.43294	1.53;0.95;1.53;1.53;1.54	5.18	5.18	0.71444	.	0.183165	0.38605	N	0.001625	T	0.22627	0.0546	N	0.03608	-0.345	0.33007	D	0.527051	B;B	0.27117	0.168;0.105	B;B	0.29785	0.107;0.05	T	0.13176	-1.0519	10	0.09084	T	0.74	-2.3617	17.7983	0.88579	0.0:0.0:1.0:0.0	.	1015;1027	Q14202-2;Q14202	.;ZMYM3_HUMAN	S	1027;1015;1027;1029;1029	ENSP00000322845:T1027S;ENSP00000363110:T1015S;ENSP00000343909:T1027S;ENSP00000363096:T1029S;ENSP00000363100:T1029S	ENSP00000322845:T1027S	T	-	2	0	ZMYM3	70381396	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.882000	0.75589	2.391000	0.81399	0.506000	0.49869	ACT		0.478	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		8	27	0	0	0	1	0	8	27				
SUZ12	23512	broad.mit.edu	37	17	30303572	30303572	+	Nonsense_Mutation	SNP	C	C	T	rs372162318		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:30303572C>T	ENST00000322652.5	+	8	1085	c.856C>T	c.(856-858)Cga>Tga	p.R286*	SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R263*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	286					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R286*(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CAGAAGAAAACGAAATCGTGA	0.343			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	1	Substitution - Nonsense(1)	p.R286*(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(856-858)Cga>Tga		SUZ12 polycomb repressive complex 2 subunit							82.0	80.0	81.0					17																	30303572		2203	4300	6503	SO:0001587	stop_gained	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30303572C>T	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.856C>T	17.37:g.30303572C>T	ENSP00000316578:p.Arg286*					SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R263*	p.R286*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN			8	1085	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	286					Q96BD9	Nonsense_Mutation	SNP	ENST00000322652.5	37	c.856C>T	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	C	38	6.852282	0.97885	.	.	ENSG00000178691	ENST00000322652	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.208	13.7539	0.62923	0.1543:0.8457:0.0:0.0	.	.	.	.	X	286	.	ENSP00000316578:R286X	R	+	1	2	SUZ12	27327685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.451000	0.44952	2.257000	0.74773	0.603000	0.83216	CGA		0.343	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		3	49	0	0	0	1	0	3	49				
TTC27	55622	broad.mit.edu	37	2	32858959	32858959	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:32858959C>G	ENST00000317907.4	+	3	514	c.283C>G	c.(283-285)Cta>Gta	p.L95V	MIR4765_ENST00000585007.1_RNA	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	95										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GTTGATATTTCTACTTGGTGT	0.368																																						ENST00000317907.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(283-285)Cta>Gta		tetratricopeptide repeat domain 27							121.0	120.0	121.0					2																	32858959		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:32858959C>G	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.283C>G	2.37:g.32858959C>G	ENSP00000313953:p.Leu95Val						p.L95V	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN			3	514	+			95					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.283C>G	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	C	9.375	1.071496	0.20147	.	.	ENSG00000018699	ENST00000448773;ENST00000317907	T	0.61158	0.13	5.59	3.79	0.43588	.	0.410543	0.22883	N	0.054496	T	0.48484	0.1502	L	0.56199	1.76	0.35846	D	0.826429	B	0.26902	0.163	B	0.26416	0.069	T	0.51060	-0.8753	10	0.15066	T	0.55	-7.5544	10.5972	0.45345	0.0:0.8425:0.0:0.1575	.	95	Q6P3X3	TTC27_HUMAN	V	45;95	ENSP00000313953:L95V	ENSP00000313953:L95V	L	+	1	2	TTC27	32712463	1.000000	0.71417	0.995000	0.50966	0.773000	0.43773	1.667000	0.37471	1.355000	0.45865	0.563000	0.77884	CTA		0.368	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		22	97	0	0	0	1	0	22	97				
RNASEH2A	10535	broad.mit.edu	37	19	12920991	12920991	+	Missense_Mutation	SNP	C	C	T	rs369355807		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:12920991C>T	ENST00000221486.4	+	5	612	c.518C>T	c.(517-519)cCg>cTg	p.P173L		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	173					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GCCCTCTACCCGGTGGTTAGT	0.582																																						ENST00000221486.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						c.(517-519)cCg>cTg		ribonuclease H2, subunit A		C	LEU/PRO	0,4406		0,0,2203	126.0	108.0	114.0		518	5.3	0.1	19		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNASEH2A	NM_006397.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	173/300	12920991	1,13005	2203	4300	6503	SO:0001583	missense	10535				DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding	g.chr19:12920991C>T	Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.518C>T	19.37:g.12920991C>T	ENSP00000221486:p.Pro173Leu						p.P173L	NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN			5	612	+			173					B2RCY1|Q96F11	Missense_Mutation	SNP	ENST00000221486.4	37	c.518C>T	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458752	0.63401	0.0	1.16E-4	ENSG00000104889	ENST00000221486	D	0.84589	-1.87	5.31	5.31	0.75309	Ribonuclease HII/HIII domain (1);Ribonuclease H-like (1);	0.055211	0.64402	D	0.000001	D	0.90998	0.7169	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.91712	0.5382	10	0.72032	D	0.01	-8.1204	17.7294	0.88373	0.0:1.0:0.0:0.0	.	173	O75792	RNH2A_HUMAN	L	173	ENSP00000221486:P173L	ENSP00000221486:P173L	P	+	2	0	RNASEH2A	12781991	1.000000	0.71417	0.063000	0.19743	0.044000	0.14063	6.952000	0.75989	2.473000	0.83533	0.561000	0.74099	CCG		0.582	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397		35	112	0	0	0	1	0	35	112				
APEX2	27301	broad.mit.edu	37	X	55033742	55033742	+	Silent	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:55033742G>T	ENST00000374987.3	+	6	1497	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	477					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AGCCATGTGTGATGCGTACTG	0.622								Other BER factors																														ENST00000374987.3																			0				breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						c.(1429-1431)gtG>gtT	Other BER factors	APEX nuclease (apurinic/apyrimidinic endonuclease) 2							28.0	23.0	25.0					X																	55033742		2203	4300	6503	SO:0001819	synonymous_variant	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033742G>T	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.1431G>T	X.37:g.55033742G>T							p.V477V	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN			6	1497	+			477					Q9Y5X7	Silent	SNP	ENST00000374987.3	37	c.1431G>T	CCDS14365.1																																																																																				0.622	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			21	37	1	0	2.37509e-13	1	2.5965e-13	21	37				
TUBGCP6	85378	broad.mit.edu	37	22	50656813	50656813	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr22:50656813G>A	ENST00000248846.5	-	23	5077	c.4973C>T	c.(4972-4974)gCc>gTc	p.A1658V	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1658					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACAGAGCCGGCCATGTGGCT	0.662																																						ENST00000248846.5																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(4972-4974)gCc>gTc		tubulin, gamma complex associated protein 6							35.0	36.0	36.0					22																	50656813		2196	4276	6472	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50656813G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4973C>T	22.37:g.50656813G>A	ENSP00000248846:p.Ala1658Val					TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR	p.A1658V			Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	23	5077	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1658					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.4973C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796294	0.50208	.	.	ENSG00000128159	ENST00000248846	T	0.08546	3.08	4.99	4.99	0.66335	.	1.201100	0.06627	U	0.758389	T	0.14227	0.0344	L	0.55481	1.735	0.58432	D	0.999999	P;P	0.38597	0.565;0.639	B;B	0.37015	0.239;0.194	T	0.33979	-0.9847	10	0.33141	T	0.24	.	17.8708	0.88810	0.0:0.0:1.0:0.0	.	1650;1658	B2RWN4;Q96RT7	.;GCP6_HUMAN	V	1658	ENSP00000248846:A1658V	ENSP00000248846:A1658V	A	-	2	0	TUBGCP6	48998940	0.961000	0.32948	0.026000	0.17262	0.708000	0.40852	4.924000	0.63418	2.319000	0.78375	0.591000	0.81541	GCC		0.662	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		3	81	0	0	0	1	0	3	81				
PGM5	5239	broad.mit.edu	37	9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr9:70993121C>T	ENST00000396396.1	+	2	497	c.268C>T	c.(268-270)Cga>Tga	p.R90*	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Nonsense_Mutation_p.R90*	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	90					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTAGATTGGACGACTGATTAT	0.443																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(268-270)Cga>Tga		phosphoglucomutase 5							38.0	42.0	41.0					9																	70993121		2196	4290	6486	SO:0001587	stop_gained	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:70993121C>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.268C>T	9.37:g.70993121C>T	ENSP00000379678:p.Arg90*					PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Nonsense_Mutation_p.R90*	p.R90*	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			2	497	+			90					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Nonsense_Mutation	SNP	ENST00000396396.1	37	c.268C>T	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	37	6.608886	0.97701	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	.	.	.	4.37	4.37	0.52481	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	11.9035	0.52697	0.1751:0.8249:0.0:0.0	.	.	.	.	X	90;90;90;56	.	ENSP00000366531:R90X	R	+	1	2	PGM5	70182941	0.938000	0.31826	0.982000	0.44146	0.973000	0.67179	2.126000	0.42026	2.131000	0.65755	0.544000	0.68410	CGA		0.443	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		20	56	0	0	0	1	0	20	56				
GZMK	3003	broad.mit.edu	37	5	54329739	54329739	+	Silent	SNP	G	G	A	rs547276524	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:54329739G>A	ENST00000231009.2	+	5	850	c.780G>A	c.(778-780)ccG>ccA	p.P260P	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	260						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P260P(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACCTTGTCCCGCCTCATACAA	0.408													G|||	4	0.000798722	0.0	0.0	5008	,	,		17596	0.0		0.001	False		,,,				2504	0.0031					ENST00000231009.2																			1	Substitution - coding silent(1)	p.P260P(1)	endometrium(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15						c.(778-780)ccG>ccA		granzyme K (granzyme 3; tryptase II)							92.0	87.0	89.0					5																	54329739		2203	4300	6503	SO:0001819	synonymous_variant	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54329739G>A	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.780G>A	5.37:g.54329739G>A						CTD-2313F11.1_ENST00000595218.1_RNA	p.P260P	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN			5	850	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	260					B2R563	Silent	SNP	ENST00000231009.2	37	c.780G>A	CCDS3964.1																																																																																				0.408	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		17	47	0	0	0	1	0	17	47				
AKAP17A	8227	broad.mit.edu	37	X	1720261	1720261	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:1720261G>A	ENST00000313871.3	+	5	2058	c.1862G>A	c.(1861-1863)cGg>cAg	p.R621Q		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	621	Arg-rich.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CGCAAGGAGCGGCGGCCCCAC	0.731																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(1861-1863)cGg>cAg		A kinase (PRKA) anchor protein 17A							18.0	28.0	25.0					X																	1720261		2184	4271	6455	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1720261G>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1862G>A	X.37:g.1720261G>A	ENSP00000324827:p.Arg621Gln						p.R621Q	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			5	2058	+			621			Arg-rich.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.1862G>A	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	11.33	1.607183	0.28623	.	.	ENSG00000197976	ENST00000313871	T	0.55234	0.53	1.41	1.41	0.22369	.	0.000000	0.34603	U	0.003834	T	0.34019	0.0883	.	.	.	0.09310	N	1	B	0.27882	0.192	B	0.17433	0.018	T	0.15694	-1.0428	9	0.44086	T	0.13	.	6.2489	0.20835	0.1668:0.0:0.8332:0.0	.	621	Q02040	AK17A_HUMAN	Q	621	ENSP00000324827:R621Q	ENSP00000324827:R621Q	R	+	2	0	AKAP17A	1680261	0.721000	0.28007	0.482000	0.27366	0.472000	0.32918	0.548000	0.23314	0.367000	0.24454	0.367000	0.22151	CGG		0.731	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		4	18	0	0	0	1	0	4	18				
PLOD1	5351	broad.mit.edu	37	1	12024322	12024322	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:12024322C>T	ENST00000196061.4	+	12	1320	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S	PLOD1_ENST00000376369.3_Silent_p.S478S	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	431					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)	ATGCCCGTTCCGAGGACTACG	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.(1291-1293)tcC>tcT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						147.0	146.0	147.0					1																	12024322		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:12024322C>T	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.1293C>T	1.37:g.12024322C>T						PLOD1_ENST00000376369.3_Silent_p.S478S	p.S431S	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)	12	1320	+	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)	431					B4DR87|Q96AV9|Q9H132	Silent	SNP	ENST00000196061.4	37	c.1293C>T	CCDS142.1																																																																																				0.627	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		8	213	0	0	0	1	0	8	213				
NKRF	55922	broad.mit.edu	37	X	118724016	118724016	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:118724016T>C	ENST00000371527.1	-	2	2024	c.1372A>G	c.(1372-1374)Aca>Gca	p.T458A	NKRF_ENST00000304449.5_Missense_Mutation_p.T458A|NKRF_ENST00000542113.1_Missense_Mutation_p.T473A|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	458					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AACTGAGCTGTGTCGTTCAGC	0.428																																						ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1372-1374)Aca>Gca		NFKB repressing factor							102.0	95.0	98.0					X																	118724016		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724016T>C	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1372A>G	X.37:g.118724016T>C	ENSP00000360582:p.Thr458Ala					NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.T458A|NKRF_ENST00000542113.1_Missense_Mutation_p.T473A	p.T458A	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	2024	-			458					G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.1372A>G	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048073	0.36085	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.76186	-1.0;-1.0;-1.0	5.49	5.49	0.81192	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.65498	2.005	0.80722	D	1	P	0.39535	0.677	B	0.39904	0.313	T	0.75269	-0.3377	10	0.46703	T	0.11	-14.5382	13.7324	0.62797	0.0:0.0:0.0:1.0	.	458	O15226	NKRF_HUMAN	A	458;458;473	ENSP00000360582:T458A;ENSP00000304803:T458A;ENSP00000442308:T473A	ENSP00000304803:T458A	T	-	1	0	NKRF	118608044	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.661000	0.83786	1.839000	0.53478	0.486000	0.48141	ACA		0.428	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		52	138	0	0	0	1	0	52	138				
ST3GAL4	6484	broad.mit.edu	37	11	126278294	126278294	+	Missense_Mutation	SNP	C	C	G	rs201328069		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr11:126278294C>G	ENST00000526727.1	+	7	904	c.530C>G	c.(529-531)cCc>cGc	p.P177R	ST3GAL4_ENST00000444328.2_Missense_Mutation_p.P177R|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.P172R|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.P173R|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.P183R|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.P173R|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.P166R|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.P177R|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.P176R|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.P177R			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	177					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CACTTCGACCCCAAAGTAGAA	0.532																																						ENST00000526727.1																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(529-531)cCc>cGc		ST3 beta-galactoside alpha-2,3-sialyltransferase 4							144.0	112.0	123.0					11																	126278294		2201	4298	6499	SO:0001583	missense	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126278294C>G	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.530C>G	11.37:g.126278294C>G	ENSP00000436047:p.Pro177Arg					ST3GAL4_ENST00000534457.1_Missense_Mutation_p.P172R|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.P177R|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.P177R|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.P176R|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.P173R|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.P173R|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.P183R|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.P177R|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.P166R	p.P177R			Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	7	904	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	177					A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	c.530C>G	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506520	0.85282	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000528858;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457;ENST00000524860	T;T;T;T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	4.78	4.78	0.61160	.	0.048770	0.85682	D	0.000000	T	0.55289	0.1911	M	0.69823	2.125	0.80722	D	1	P;D;D	0.76494	0.642;0.999;0.999	P;D;D	0.74348	0.753;0.983;0.983	T	0.53746	-0.8395	10	0.41790	T	0.15	-0.1745	18.3543	0.90352	0.0:1.0:0.0:0.0	.	126;173;177	Q9HAA9;Q6IBE6;Q11206	.;.;SIA4C_HUMAN	R	173;177;183;173;177;177;177;177;166;176;172;13	ENSP00000227495:P173R;ENSP00000394354:P177R;ENSP00000348451:P183R;ENSP00000433989:P173R;ENSP00000433318:P177R;ENSP00000432424:P177R;ENSP00000376437:P177R;ENSP00000436047:P177R;ENSP00000399444:P166R;ENSP00000434349:P176R;ENSP00000434668:P172R;ENSP00000431170:P13R	ENSP00000227495:P173R	P	+	2	0	ST3GAL4	125783504	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	6.878000	0.75567	2.633000	0.89246	0.561000	0.74099	CCC		0.532	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		3	91	0	0	0	1	0	3	91				
OR2G6	391211	broad.mit.edu	37	1	248685544	248685544	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:248685544C>T	ENST00000343414.4	+	1	629	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCAGAACTCTTTGTGGCCA	0.473																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(595-597)ctC>ctT		olfactory receptor, family 2, subfamily G, member 6							128.0	133.0	131.0					1																	248685544		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685544C>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.597C>T	1.37:g.248685544C>T							p.L199L	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	629	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	199					B2RP33	Silent	SNP	ENST00000343414.4	37	c.597C>T	CCDS31119.1																																																																																				0.473	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		29	70	0	0	0	1	0	29	70				
ADAMTS12	81792	broad.mit.edu	37	5	33683148	33683148	+	Missense_Mutation	SNP	C	C	T	rs61754760		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:33683148C>T	ENST00000504830.1	-	5	1225	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R297Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	297	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGAATGAGCCGAACCACAAC	0.433										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(889-891)cGg>cAg		ADAM metallopeptidase with thrombospondin type 1 motif, 12		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	100.0	103.0		890	5.6	1.0	5	dbSNP_129	103	0,8600		0,0,4300	no	missense	ADAMTS12	NM_030955.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	297/1595	33683148	1,13005	2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33683148C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.890G>A	5.37:g.33683148C>T	ENSP00000422554:p.Arg297Gln	HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R297Q	p.R297Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			5	1225	-			297			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.890G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	36	5.807041	0.96967	2.27E-4	0.0	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.87179	-2.22;-2.22	5.56	5.56	0.83823	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95526	0.8546	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96075	0.9049	10	0.66056	D	0.02	.	19.5316	0.95231	0.0:1.0:0.0:0.0	rs61754760	297;297	P58397-3;P58397	.;ATS12_HUMAN	Q	297	ENSP00000422554:R297Q;ENSP00000344847:R297Q	ENSP00000344847:R297Q	R	-	2	0	ADAMTS12	33718905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.494000	0.81503	2.615000	0.88500	0.637000	0.83480	CGG		0.433	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		21	49	0	0	0	1	0	21	49				
PML	5371	broad.mit.edu	37	15	74315324	74315324	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:74315324C>A	ENST00000268058.3	+	3	854	c.758C>A	c.(757-759)gCc>gAc	p.A253D	PML_ENST00000563500.1_Missense_Mutation_p.A253D|PML_ENST00000436891.3_Missense_Mutation_p.A253D|PML_ENST00000564428.1_Missense_Mutation_p.A253D|PML_ENST00000565898.1_Missense_Mutation_p.A253D|PML_ENST00000354026.6_Missense_Mutation_p.A253D|PML_ENST00000567543.1_Missense_Mutation_p.A253D|PML_ENST00000268059.6_Missense_Mutation_p.A253D|PML_ENST00000569965.1_Missense_Mutation_p.A253D|PML_ENST00000395132.2_Missense_Mutation_p.A253D|PML_ENST00000569477.1_Missense_Mutation_p.A253D|PML_ENST00000435786.2_Missense_Mutation_p.A253D|PML_ENST00000569161.1_3'UTR|PML_ENST00000359928.4_Missense_Mutation_p.A253D|PML_ENST00000395135.3_Missense_Mutation_p.A253D	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	253					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAGGATAGTGCCTTTGGCGCG	0.687			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(757-759)gCc>gAc		promyelocytic leukemia							25.0	21.0	22.0					15																	74315324		2197	4295	6492	SO:0001583	missense	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74315324C>A	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.758C>A	15.37:g.74315324C>A	ENSP00000268058:p.Ala253Asp					PML_ENST00000395135.3_Missense_Mutation_p.A253D|PML_ENST00000564428.1_Missense_Mutation_p.A253D|PML_ENST00000268058.3_Missense_Mutation_p.A253D|PML_ENST00000567543.1_Missense_Mutation_p.A253D|PML_ENST00000268059.6_Missense_Mutation_p.A253D|PML_ENST00000359928.4_Missense_Mutation_p.A253D|PML_ENST00000569477.1_Missense_Mutation_p.A253D|PML_ENST00000569161.1_3'UTR|PML_ENST00000563500.1_Missense_Mutation_p.A253D|PML_ENST00000354026.6_Missense_Mutation_p.A253D|PML_ENST00000435786.2_Missense_Mutation_p.A253D|PML_ENST00000395132.2_Missense_Mutation_p.A253D|PML_ENST00000436891.3_Missense_Mutation_p.A253D|PML_ENST00000569965.1_Missense_Mutation_p.A253D	p.A253D			P29590	PML_HUMAN			3	842	+			253					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.758C>A	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	8.583	0.882806	0.17467	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.47177	0.85	4.82	2.9	0.33743	.	1.012730	0.07911	N	0.974317	T	0.50684	0.1630	L	0.47716	1.5	0.09310	N	0.999992	D;B;P;B;P;P;P;P;B;D;P;D;B	0.65815	0.959;0.12;0.946;0.143;0.682;0.692;0.801;0.914;0.134;0.985;0.496;0.995;0.098	P;B;P;B;B;B;B;P;B;P;B;P;B	0.55577	0.681;0.123;0.702;0.071;0.281;0.281;0.398;0.5;0.074;0.668;0.261;0.779;0.122	T	0.39542	-0.9609	10	0.36615	T	0.2	-16.4834	5.0404	0.14456	0.0:0.6413:0.189:0.1697	.	253;203;253;253;253;253;253;253;253;253;253;253;256	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	D	253	ENSP00000268058:A253D	ENSP00000268058:A253D	A	+	2	0	PML	72102377	0.000000	0.05858	0.508000	0.27688	0.037000	0.13140	-0.663000	0.05299	2.224000	0.72417	0.313000	0.20887	GCC		0.687	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		13	20	1	0	4.3838e-07	1	4.67364e-07	13	20				
HDLBP	3069	broad.mit.edu	37	2	242194885	242194885	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:242194885G>A	ENST00000391975.1	-	8	1211	c.984C>T	c.(982-984)tcC>tcT	p.S328S	HDLBP_ENST00000427183.2_Intron|HDLBP_ENST00000310931.4_Silent_p.S328S|HDLBP_ENST00000391976.2_Silent_p.S328S	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	328	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGATCTCAACGGAAACTCCAG	0.473																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(982-984)tcC>tcT		high density lipoprotein binding protein							155.0	143.0	147.0					2																	242194885		2203	4300	6503	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242194885G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.984C>T	2.37:g.242194885G>A						HDLBP_ENST00000427183.2_Intron|HDLBP_ENST00000310931.4_Silent_p.S328S|HDLBP_ENST00000391976.2_Silent_p.S328S	p.S328S	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	8	1211	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	328			KH 3.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.984C>T	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	G	0.149	-1.093417	0.01858	.	.	ENSG00000115677	ENST00000453141	.	.	.	6.17	-12.3	0.00002	.	.	.	.	.	T	0.32285	0.0824	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53464	-0.8435	4	.	.	.	-26.8416	2.7833	0.05367	0.5074:0.1969:0.1136:0.1821	.	.	.	.	L	206	.	.	P	-	2	0	HDLBP	241843558	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-2.588000	0.00901	-4.360000	0.00054	-2.398000	0.00225	CCG		0.473	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		4	150	0	0	0	1	0	4	150				
SLC6A15	55117	broad.mit.edu	37	12	85267059	85267059	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:85267059C>A	ENST00000266682.5	-	7	1457	c.916G>T	c.(916-918)Gtg>Ttg	p.V306L	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.V199L|SLC6A15_ENST00000309283.7_Missense_Mutation_p.V14L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	306					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GCAAAGAACACTTGAGTAGCA	0.403																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(916-918)Gtg>Ttg		solute carrier family 6 (neutral amino acid transporter), member 15							143.0	142.0	142.0					12																	85267059		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85267059C>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.916G>T	12.37:g.85267059C>A	ENSP00000266682:p.Val306Leu					SLC6A15_ENST00000309283.7_Missense_Mutation_p.V14L|SLC6A15_ENST00000552192.1_Missense_Mutation_p.V199L|SLC6A15_ENST00000551388.1_Intron	p.V306L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			7	1457	-			306					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.916G>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	35	5.508187	0.96386	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818;ENST00000551612	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	6.17	6.17	0.99709	.	0.055231	0.64402	D	0.000001	D	0.88753	0.6522	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.98	D	0.87713	0.2568	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	14;306	F8WJN6;Q9H2J7	.;S6A15_HUMAN	L	14;306;22;199;14;22	ENSP00000311645:V14L;ENSP00000266682:V306L;ENSP00000450145:V199L;ENSP00000449263:V22L	ENSP00000266682:V306L	V	-	1	0	SLC6A15	83791190	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GTG		0.403	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		5	158	1	0	0.217242	1	0.218939	5	158				
FAM71B	153745	broad.mit.edu	37	5	156590151	156590151	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:156590151C>T	ENST00000302938.4	-	2	1220	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	375						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCTGCAAACGCCGCACTCA	0.582																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1123-1125)gcG>gcA		family with sequence similarity 71, member B							41.0	43.0	42.0					5																	156590151		2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156590151C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1125G>A	5.37:g.156590151C>T							p.A375A	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1220	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	375					Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.1125G>A	CCDS4335.1																																																																																				0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		21	54	0	0	0	1	0	21	54				
MIA3	375056	broad.mit.edu	37	1	222835662	222835662	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:222835662C>T	ENST00000344922.5	+	26	5275	c.5250C>T	c.(5248-5250)ctC>ctT	p.L1750L	MIA3_ENST00000344507.1_Intron|RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000340535.7_Silent_p.L628L|MIA3_ENST00000344441.6_Silent_p.L1750L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1750	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCAGGGTACTCGATGAAGGCA	0.423																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(5248-5250)ctC>ctT		melanoma inhibitory activity family, member 3							160.0	155.0	156.0					1																	222835662		1895	4110	6005	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222835662C>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5250C>T	1.37:g.222835662C>T						MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.L1750L|MIA3_ENST00000340535.7_Silent_p.L628L	p.L1750L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	26	5275	+			1750			Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.5250C>T	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	4.357	0.065809	0.08388	.	.	ENSG00000154305	ENST00000450260	.	.	.	5.77	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.45342	D	0.99833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9538	0.30029	0.1435:0.1334:0.7231:0.0	.	.	.	.	X	35	.	.	R	+	1	2	MIA3	220902285	0.985000	0.35326	0.014000	0.15608	0.028000	0.11728	1.886000	0.39688	0.459000	0.27016	-0.153000	0.13522	CGA		0.423	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		3	117	0	0	0	1	0	3	117				
LNX1	84708	broad.mit.edu	37	4	54327127	54327127	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:54327127G>A	ENST00000263925.7	-	11	2448	c.2134C>T	c.(2134-2136)Ctt>Ttt	p.L712F	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Missense_Mutation_p.L616F	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	712	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTTCCTTTAAGTTCTTTCAGC	0.343																																						ENST00000306888.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32						c.(1846-1848)Ctt>Ttt		ligand of numb-protein X 1, E3 ubiquitin protein ligase							109.0	110.0	110.0					4																	54327127		2203	4300	6503	SO:0001583	missense	84708					cytoplasm	zinc ion binding	g.chr4:54327127G>A	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.2134C>T	4.37:g.54327127G>A	ENSP00000263925:p.Leu712Phe					FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.L712F	p.L616F	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		10	2097	-	all_neural(26;0.153)		712					Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	c.1846C>T	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550299	0.65311	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.27890	1.64;1.64	4.93	3.15	0.36227	PDZ/DHR/GLGF (4);	0.070363	0.64402	D	0.000015	T	0.42494	0.1205	L	0.47190	1.495	0.52099	D	0.999944	D;D	0.67145	0.996;0.975	D;P	0.70935	0.971;0.861	T	0.26608	-1.0098	10	0.54805	T	0.06	.	8.1182	0.30955	0.0755:0.0:0.6419:0.2826	.	712;616	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	F	616;550;712	ENSP00000302879:L616F;ENSP00000263925:L712F	ENSP00000263925:L712F	L	-	1	0	LNX1	54021884	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.749000	0.62155	1.402000	0.46780	0.460000	0.39030	CTT		0.343	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			33	54	0	0	0	1	0	33	54				
SF3B1	23451	broad.mit.edu	37	2	198267364	198267364	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:198267364T>A	ENST00000335508.6	-	14	2084	c.1993A>T	c.(1993-1995)Att>Ttt	p.I665F	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	665					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ACAATCTTAATACCAGTGTGT	0.408			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1993-1995)Att>Ttt		splicing factor 3b, subunit 1, 155kDa							120.0	119.0	120.0					2																	198267364		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267364T>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1993A>T	2.37:g.198267364T>A	ENSP00000335321:p.Ile665Phe						p.I665F	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	2084	-			665					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1993A>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.934376	0.92458	.	.	ENSG00000115524	ENST00000335508	T	0.65916	-0.18	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84316	0.5445	H	0.94847	3.59	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	D	0.88934	0.3375	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	665	O75533	SF3B1_HUMAN	F	665	ENSP00000335321:I665F	ENSP00000335321:I665F	I	-	1	0	SF3B1	197975609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	ATT		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			13	68	0	0	0	1	0	13	68				
TRPM2	7226	broad.mit.edu	37	21	45846577	45846577	+	Missense_Mutation	SNP	C	C	T	rs113563173	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr21:45846577C>T	ENST00000397928.1	+	26	4275	c.3830C>T	c.(3829-3831)aCg>aTg	p.T1277M	AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1277M|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1257M|TRPM2_ENST00000397932.2_Missense_Mutation_p.T1327M|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1277					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.T1277M(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCTTTTACACGGCAGAGAGG	0.602													C|||	5	0.000998403	0.0	0.0014	5008	,	,		15705	0.003		0.0	False		,,,				2504	0.001					ENST00000397928.1																			1	Substitution - Missense(1)	p.T1277M(1)	prostate(1)	breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3829-3831)aCg>aTg		transient receptor potential cation channel, subfamily M, member 2		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	83.0	89.0	87.0		3830	4.5	0.6	21	dbSNP_132	87	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TRPM2	NM_003307.3	81	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	probably-damaging	1277/1504	45846577	5,13001	2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45846577C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3830C>T	21.37:g.45846577C>T	ENSP00000381023:p.Thr1277Met					TRPM2_ENST00000397932.2_Missense_Mutation_p.T1327M|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1257M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1277M	p.T1277M	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			26	4275	+			1277					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3830C>T	CCDS13710.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.02	2.410966	0.42817	2.27E-4	4.65E-4	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	4.46	4.46	0.54185	NUDIX hydrolase domain-like (1);	0.583692	0.16280	N	0.221408	D	0.88526	0.6460	M	0.89287	3.02	0.38009	D	0.934479	D;D;D	0.89917	1.0;0.999;0.999	P;P;P	0.60886	0.88;0.88;0.88	D	0.91291	0.5059	10	0.54805	T	0.06	-17.7264	16.075	0.80962	0.0:1.0:0.0:0.0	.	1327;1063;1277	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	M	1277;1277;1257;1327;55	ENSP00000300482:T1277M;ENSP00000381023:T1277M;ENSP00000300481:T1257M;ENSP00000381026:T1327M	ENSP00000300481:T1257M	T	+	2	0	TRPM2	44671005	0.133000	0.22466	0.646000	0.29493	0.017000	0.09413	1.393000	0.34497	2.206000	0.71126	0.655000	0.94253	ACG		0.602	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		18	107	0	0	0	1	0	18	107				
WSCD2	9671	broad.mit.edu	37	12	108589925	108589925	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:108589925G>A	ENST00000332082.4	+	3	1134	c.316G>A	c.(316-318)Gac>Aac	p.D106N	WSCD2_ENST00000547525.1_Missense_Mutation_p.D106N|WSCD2_ENST00000549903.1_Missense_Mutation_p.D106N|WSCD2_ENST00000261400.3_Missense_Mutation_p.D106N			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	106						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAAGCTTGGCGACTACGGTGG	0.607																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(316-318)Gac>Aac		WSC domain containing 2							58.0	60.0	60.0					12																	108589925		2017	4177	6194	SO:0001583	missense	9671					integral to membrane		g.chr12:108589925G>A		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.316G>A	12.37:g.108589925G>A	ENSP00000331933:p.Asp106Asn					WSCD2_ENST00000547525.1_Missense_Mutation_p.D106N|WSCD2_ENST00000261400.3_Missense_Mutation_p.D106N|WSCD2_ENST00000549903.1_Missense_Mutation_p.D106N	p.D106N			Q2TBF2	WSCD2_HUMAN			3	1134	+			106					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.316G>A	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879298	0.51801	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.30448	1.54;1.53;1.54;1.53	5.74	5.74	0.90152	.	0.317663	0.37053	N	0.002266	T	0.26919	0.0659	L	0.56769	1.78	0.51482	D	0.999924	P	0.47545	0.897	B	0.29663	0.105	T	0.13495	-1.0507	10	0.25106	T	0.35	-38.5661	18.8897	0.92395	0.0:0.0:1.0:0.0	.	106	Q2TBF2	WSCD2_HUMAN	N	106	ENSP00000448047:D106N;ENSP00000261400:D106N;ENSP00000331933:D106N;ENSP00000447272:D106N	ENSP00000261400:D106N	D	+	1	0	WSCD2	107114055	1.000000	0.71417	0.992000	0.48379	0.487000	0.33371	5.607000	0.67648	2.704000	0.92352	0.655000	0.94253	GAC		0.607	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		31	54	0	0	0	1	0	31	54				
SLC25A14	9016	broad.mit.edu	37	X	129498601	129498601	+	Splice_Site	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:129498601G>A	ENST00000218197.5	+	7	821		c.e7-1		SLC25A14_ENST00000467496.1_Splice_Site|SLC25A14_ENST00000361980.5_Splice_Site|SLC25A14_ENST00000545805.1_Splice_Site|SLC25A14_ENST00000339231.3_Splice_Site|SLC25A14_ENST00000543953.1_Splice_Site	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14						aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						GTGTTTCGTAGGGTGTGGTTC	0.408																																						ENST00000543953.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						c.e7-1		solute carrier family 25 (mitochondrial carrier, brain), member 14							200.0	150.0	167.0					X																	129498601		2203	4300	6503	SO:0001630	splice_region_variant	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129498601G>A	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.595-1G>A	X.37:g.129498601G>A						SLC25A14_ENST00000545805.1_Splice_Site|SLC25A14_ENST00000467496.1_Splice_Site|SLC25A14_ENST00000339231.3_Splice_Site|SLC25A14_ENST00000361980.5_Splice_Site|SLC25A14_ENST00000218197.5_Splice_Site				O95258	UCP5_HUMAN			7	538	+								D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Splice_Site	SNP	ENST00000218197.5	37		CCDS14623.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358404	0.61403	.	.	ENSG00000102078	ENST00000545805;ENST00000543953;ENST00000218197;ENST00000361980;ENST00000339231	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2746	0.82638	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC25A14	129326282	1.000000	0.71417	0.994000	0.49952	0.685000	0.39939	8.752000	0.91632	2.361000	0.80049	0.544000	0.68410	.		0.408	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951	Intron	36	89	0	0	0	1	0	36	89				
IGSF1	3547	broad.mit.edu	37	X	130415782	130415782	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:130415782T>G	ENST00000361420.3	-	8	1462	c.1383A>C	c.(1381-1383)caA>caC	p.Q461H	IGSF1_ENST00000370903.3_Missense_Mutation_p.Q461H|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q452H|IGSF1_ENST00000370904.1_Missense_Mutation_p.Q452H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	461	Ig-like C2-type 5.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGAGAATTTTTGGAATGTTT	0.453																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(1354-1356)caA>caC		immunoglobulin superfamily, member 1							136.0	103.0	114.0					X																	130415782		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130415782T>G	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1383A>C	X.37:g.130415782T>G	ENSP00000355010:p.Gln461His					IGSF1_ENST00000370910.1_Missense_Mutation_p.Q452H|IGSF1_ENST00000370903.3_Missense_Mutation_p.Q461H|IGSF1_ENST00000361420.3_Missense_Mutation_p.Q461H	p.Q452H			Q8N6C5	IGSF1_HUMAN			14	2266	-			461			Ig-like C2-type 5.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.1356A>C	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	T	3.811	-0.039752	0.07497	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.03212	4.01;4.01;4.01;4.01	4.35	0.42	0.16444	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.781155	0.11656	N	0.542290	T	0.02888	0.0086	L	0.45228	1.405	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.48234	-0.9053	10	0.21014	T	0.42	.	0.8549	0.01180	0.1995:0.1133:0.2028:0.4843	.	452;461	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	H	452;461;452;461	ENSP00000359947:Q452H;ENSP00000355010:Q461H;ENSP00000359941:Q452H;ENSP00000359940:Q461H	ENSP00000355010:Q461H	Q	-	3	2	IGSF1	130243463	0.807000	0.29009	0.001000	0.08648	0.922000	0.55478	0.423000	0.21313	-0.022000	0.13986	0.481000	0.45027	CAA		0.453	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			41	51	0	0	0	1	0	41	51				
RP1	6101	broad.mit.edu	37	8	55534023	55534023	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:55534023C>T	ENST00000220676.1	+	2	645	c.497C>T	c.(496-498)aCg>aTg	p.T166M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	166	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.T166M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACCCGAAGACGAGGCGTGCG	0.642																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - Missense(1)	p.T166M(1)	lung(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(496-498)aCg>aTg		retinitis pigmentosa 1 (autosomal dominant)							83.0	85.0	84.0					8																	55534023		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55534023C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.497C>T	8.37:g.55534023C>T	ENSP00000220676:p.Thr166Met						p.T166M	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	645	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	166			Doublecortin 2.			Missense_Mutation	SNP	ENST00000220676.1	37	c.497C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709586	0.30322	.	.	ENSG00000104237	ENST00000220676	D	0.86562	-2.14	5.14	1.26	0.21427	Doublecortin domain (4);	0.635417	0.14570	N	0.311486	T	0.72930	0.3522	L	0.38175	1.15	0.09310	N	1	P	0.47604	0.898	B	0.30029	0.11	T	0.65496	-0.6154	10	0.62326	D	0.03	6.4508	4.3984	0.11374	0.1478:0.4103:0.0:0.4419	.	166	P56715	RP1_HUMAN	M	166	ENSP00000220676:T166M	ENSP00000220676:T166M	T	+	2	0	RP1	55696576	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.109000	0.15417	-0.050000	0.13356	0.650000	0.86243	ACG		0.642	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		48	98	0	0	0	1	0	48	98				
LOC100420587	100420587	broad.mit.edu	37	19	29215151	29215151	+	lincRNA	SNP	G	G	A	rs151046529		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:29215151G>A	ENST00000592347.1	-	0	390																											CAGACTGTCCGCCATCCAGAT	0.443													g|||	1	0.000199681	0.0	0.0	5008	,	,		17748	0.001		0.0	False		,,,				2504	0.0					ENST00000592347.1																			0																																																			0							g.chr19:29215151G>A																													19.37:g.29215151G>A														0	390	-									RNA	SNP	ENST00000592347.1	37																																																																																						0.443	AC005307.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453069.1			10	39	0	0	0	1	0	10	39				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	95	0	0	0	1	0	4	95				
AHCY	191	broad.mit.edu	37	20	32873405	32873405	+	Silent	SNP	G	G	A	rs139344907		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr20:32873405G>A	ENST00000217426.2	-	9	1085	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	CTD-3216D2.5_ENST00000609218.1_RNA|AHCY_ENST00000538132.1_Silent_p.I308I	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	336					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCAGCAGGATGATGCGGCGCC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		15705	0.0		0.001	False		,,,				2504	0.0					ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(922-924)atC>atT		adenosylhomocysteinase		G	,	1,4405	2.1+/-5.4	0,1,2202	67.0	57.0	60.0		1008,924	4.2	1.0	20	dbSNP_134	60	16,8584	10.5+/-38.8	0,16,4284	no	coding-synonymous,coding-synonymous	AHCY	NM_000687.2,NM_001161766.1	,	0,17,6486	AA,AG,GG		0.186,0.0227,0.1307	,	336/433,308/405	32873405	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32873405G>A	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.1008C>T	20.37:g.32873405G>A						AHCY_ENST00000217426.2_Silent_p.I336I	p.I308I	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN			9	1310	-			336					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Silent	SNP	ENST00000217426.2	37	c.924C>T	CCDS13233.1																																																																																				0.632	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		9	134	0	0	0	1	0	9	134				
PSPH	5723	broad.mit.edu	37	7	56085002	56085002	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:56085002C>T	ENST00000395471.3	-	6	1151	c.346G>A	c.(346-348)Gta>Ata	p.V116I	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.V116I			P78330	SERB_HUMAN	phosphoserine phosphatase	116					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)	p.V116I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACATGCTCTACAATACTCCTA	0.393																																						ENST00000395471.3																			1	Substitution - Missense(1)	p.V116I(1)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11						c.(346-348)Gta>Ata		phosphoserine phosphatase							87.0	75.0	79.0					7																	56085002		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56085002C>T	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.346G>A	7.37:g.56085002C>T	ENSP00000378854:p.Val116Ile					PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.V116I	p.V116I			P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	1151	-	Breast(14;0.214)		116					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.346G>A	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432510	0.25813	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.81908	-1.55;-1.55;-1.55	4.85	4.85	0.62838	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	N	0.05124	-0.11	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.18263	0.021;0.021	T	0.62992	-0.6736	10	0.02654	T	1	-16.2549	17.1115	0.86676	0.0:1.0:0.0:0.0	.	116;116	Q53EY1;P78330	.;SERB_HUMAN	I	116	ENSP00000275605:V116I;ENSP00000378854:V116I;ENSP00000398653:V116I	ENSP00000275605:V116I	V	-	1	0	PSPH	56052496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.551000	0.82182	2.297000	0.77311	0.579000	0.79373	GTA		0.393	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		3	85	0	0	0	1	0	3	85				
FARP1	10160	broad.mit.edu	37	13	99083337	99083337	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr13:99083337A>G	ENST00000319562.6	+	18	2211	c.1946A>G	c.(1945-1947)gAg>gGg	p.E649G	FARP1_ENST00000595437.1_Missense_Mutation_p.E649G|FARP1_ENST00000376586.2_Missense_Mutation_p.E649G	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	649	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GAGGCCTTGGAGGCCCTGGAG	0.582																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1945-1947)gAg>gGg		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							47.0	52.0	50.0					13																	99083337		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99083337A>G	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1946A>G	13.37:g.99083337A>G	ENSP00000322926:p.Glu649Gly					FARP1_ENST00000319562.6_Missense_Mutation_p.E649G|FARP1_ENST00000595437.1_Missense_Mutation_p.E649G	p.E649G			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		18	2282	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		649			DH.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1946A>G	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.846442	0.32606	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.65364	-0.15;-0.15	5.42	2.49	0.30216	Dbl homology (DH) domain (5);	0.519066	0.19723	N	0.107534	T	0.51907	0.1702	L	0.48642	1.525	0.28580	N	0.910177	B;P	0.34699	0.213;0.464	B;B	0.38880	0.162;0.284	T	0.48514	-0.9029	10	0.42905	T	0.14	.	4.8852	0.13699	0.3852:0.2318:0.0:0.383	.	649;649	Q9Y4F1;C9JME2	FARP1_HUMAN;.	G	649	ENSP00000365771:E649G;ENSP00000322926:E649G	ENSP00000322926:E649G	E	+	2	0	FARP1	97881338	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	3.348000	0.52209	0.948000	0.37687	0.528000	0.53228	GAG		0.582	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		3	73	0	0	0	1	0	3	73				
TRHDE	29953	broad.mit.edu	37	12	72893328	72893328	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:72893328C>T	ENST00000261180.4	+	6	1596	c.1500C>T	c.(1498-1500)gaC>gaT	p.D500D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	500					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D500D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTGCTGGACGGTTTGGCCA	0.458																																						ENST00000261180.4																			1	Substitution - coding silent(1)	p.D500D(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1498-1500)gaC>gaT		thyrotropin-releasing hormone degrading enzyme							176.0	137.0	150.0					12																	72893328		2203	4300	6503	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72893328C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1500C>T	12.37:g.72893328C>T							p.D500D	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			6	1596	+			500					A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.1500C>T	CCDS9004.1																																																																																				0.458	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		34	50	0	0	0	1	0	34	50				
NLRP11	204801	broad.mit.edu	37	19	56320377	56320377	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:56320377G>T	ENST00000589093.1	-	3	1692	c.1599C>A	c.(1597-1599)gaC>gaA	p.D533E	NLRP11_ENST00000592953.1_Missense_Mutation_p.D434E|NLRP11_ENST00000589824.2_Missense_Mutation_p.D533E|NLRP11_ENST00000360133.3_Missense_Mutation_p.D533E|NLRP11_ENST00000443188.1_Missense_Mutation_p.D533E			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	533							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCGGGTCACGGTCCAAATGTT	0.448																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(1597-1599)gaC>gaA		NLR family, pyrin domain containing 11							160.0	150.0	154.0					19																	56320377		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320377G>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1599C>A	19.37:g.56320377G>T	ENSP00000466285:p.Asp533Glu					NLRP11_ENST00000592953.1_Missense_Mutation_p.D434E|NLRP11_ENST00000589824.2_Missense_Mutation_p.D533E|NLRP11_ENST00000360133.3_Missense_Mutation_p.D533E|NLRP11_ENST00000589093.1_Missense_Mutation_p.D533E	p.D533E	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2309	-		Colorectal(82;0.0002)	533					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1599C>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	3.964	-0.009646	0.07727	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.73258	-0.73;-0.66	1.74	-2.59	0.06209	.	.	.	.	.	T	0.35856	0.0946	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.15484	0.013;0.001	T	0.31558	-0.9939	9	0.02654	T	1	.	0.0795	0.00030	0.3025:0.2401:0.2198:0.2376	.	533;533	P59045;P59045-2	NAL11_HUMAN;.	E	533	ENSP00000409898:D533E;ENSP00000353251:D533E	ENSP00000353251:D533E	D	-	3	2	NLRP11	61012189	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.666000	0.05280	-0.791000	0.04486	-0.885000	0.02943	GAC		0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		4	316	1	0	3.59834e-05	1	3.74343e-05	4	316				
CPXCR1	53336	broad.mit.edu	37	X	88009269	88009269	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:88009269T>A	ENST00000276127.4	+	3	1113	c.854T>A	c.(853-855)tTt>tAt	p.F285Y	CPXCR1_ENST00000373111.1_Missense_Mutation_p.F285Y	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	285							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GGAAGGCTTTTTAACACTTAC	0.303																																						ENST00000276127.4																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						c.(853-855)tTt>tAt		CPX chromosome region, candidate 1							43.0	43.0	43.0					X																	88009269		2202	4295	6497	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88009269T>A	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.854T>A	X.37:g.88009269T>A	ENSP00000276127:p.Phe285Tyr					CPXCR1_ENST00000373111.1_Missense_Mutation_p.F285Y	p.F285Y	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN			3	1113	+			285					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.854T>A	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.793074	0.50102	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.03745	3.82;3.82	3.57	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.160723	0.29814	N	0.011131	T	0.07593	0.0191	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	D	0.68943	0.961	T	0.21518	-1.0243	9	.	.	.	-6.8672	7.7566	0.28927	0.0:0.0:0.0:1.0	.	285	Q8N123	CPXCR_HUMAN	Y	285	ENSP00000276127:F285Y;ENSP00000362203:F285Y	.	F	+	2	0	CPXCR1	87895925	0.119000	0.22226	0.016000	0.15963	0.003000	0.03518	1.745000	0.38278	1.646000	0.50622	0.481000	0.45027	TTT		0.303	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		26	37	0	0	0	1	0	26	37				
FAM92A1P2	403315	broad.mit.edu	37	4	183959372	183959372	+	RNA	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:183959372G>A	ENST00000502308.1	+	0	555					NR_003612.1				family with sequence similarity 92, member A1 pseudogene 2																		TTTGAATTTCGACCTTTAAAA	0.468																																						ENST00000502308.1																			0																																																			0							g.chr4:183959372G>A	BC022019		4q35.1	2012-04-19	2012-04-19	2012-04-19	ENSG00000230219	ENSG00000230219			32287	pseudogene	pseudogene			"""family with sequence similarity 92, member A3"""	FAM92A3		12477932	Standard	NR_003612		Approved	MGC71735, MGC102964	uc003ivi.4		OTTHUMG00000160675		4.37:g.183959372G>A								NR_003612.1						0	555	+									RNA	SNP	ENST00000502308.1	37																																																																																						0.468	FAM92A1P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361814.1			4	12	0	0	0	1	0	4	12				
DSG2	1829	broad.mit.edu	37	18	29126335	29126335	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr18:29126335G>T	ENST00000261590.8	+	15	3195	c.2986G>T	c.(2986-2988)Ggg>Tgg	p.G996W	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	996					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ACAGCCTCATGGGGGTGGATC	0.498																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(2986-2988)Ggg>Tgg		desmoglein 2							83.0	85.0	84.0					18																	29126335		1967	4150	6117	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126335G>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2986G>T	18.37:g.29126335G>T	ENSP00000261590:p.Gly996Trp					RP11-75N4.2_ENST00000583706.1_RNA	p.G996W	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	3195	+			996					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2986G>T	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737671	0.30774	.	.	ENSG00000046604	ENST00000261590	T	0.77098	-1.07	5.16	5.16	0.70880	.	0.098116	0.45126	D	0.000391	D	0.84474	0.5480	L	0.52573	1.65	0.42806	D	0.993948	D	0.76494	0.999	D	0.76575	0.988	D	0.85494	0.1187	10	0.87932	D	0	.	14.7098	0.69222	0.0:0.0:0.8549:0.1451	.	996	Q14126	DSG2_HUMAN	W	996	ENSP00000261590:G996W	ENSP00000261590:G996W	G	+	1	0	DSG2	27380333	0.017000	0.18338	0.028000	0.17463	0.072000	0.16883	1.255000	0.32909	2.840000	0.97914	0.655000	0.94253	GGG		0.498	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		5	77	1	0	0.014758	1	0.0149904	5	77				
CACNA2D4	93589	broad.mit.edu	37	12	1995491	1995491	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:1995491G>A	ENST00000382722.5	-	8	1253	c.891C>T	c.(889-891)gaC>gaT	p.D297D	CACNA2D4_ENST00000588077.1_Silent_p.D233D|CACNA2D4_ENST00000587995.1_Silent_p.D297D|CACNA2D4_ENST00000585708.1_Silent_p.D233D|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Silent_p.D297D	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	297	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGCCGCTCACGTCCACCAAAA	0.488																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(889-891)gaC>gaT		calcium channel, voltage-dependent, alpha 2/delta subunit 4							115.0	113.0	113.0					12																	1995491		2087	4211	6298	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1995491G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.891C>T	12.37:g.1995491G>A						CACNA2D4_ENST00000587995.1_Silent_p.D297D|CACNA2D4_ENST00000586184.1_Silent_p.D297D|CACNA2D4_ENST00000585708.1_Silent_p.D233D|CACNA2D4_ENST00000588077.1_Silent_p.D233D|CACNA2D4_ENST00000585732.1_Intron	p.D297D	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	8	1253	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	297			VWFA.		Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.891C>T	CCDS44785.1																																																																																				0.488	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			28	41	0	0	0	1	0	28	41				
CA13	377677	broad.mit.edu	37	8	86180769	86180769	+	Silent	SNP	A	A	G	rs143754749		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:86180769A>G	ENST00000321764.3	+	6	884	c.582A>G	c.(580-582)acA>acG	p.T194T	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	194					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	ACTACTGGACATATCCTGGTT	0.403																																						ENST00000321764.3																			0				large_intestine(1)|lung(6)	7						c.(580-582)acA>acG		carbonic anhydrase XIII		A		0,4406		0,0,2203	179.0	163.0	168.0		582	-4.6	1.0	8	dbSNP_134	168	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CA13	NM_198584.2		0,2,6501	GG,GA,AA		0.0233,0.0,0.0154		194/263	86180769	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86180769A>G	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.582A>G	8.37:g.86180769A>G						CA13_ENST00000517298.1_3'UTR	p.T194T	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN			6	884	+			194						Silent	SNP	ENST00000321764.3	37	c.582A>G	CCDS6236.1																																																																																				0.403	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		7	137	0	0	0	1	0	7	137				
C8A	731	broad.mit.edu	37	1	57378109	57378109	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:57378109A>T	ENST00000361249.3	+	10	1510	c.1414A>T	c.(1414-1416)Agc>Tgc	p.S472C		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	472	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GCGGCACACAAGCCTGGGGCC	0.602																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1414-1416)Agc>Tgc		complement component 8, alpha polypeptide							47.0	50.0	49.0					1																	57378109		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57378109A>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1414A>T	1.37:g.57378109A>T	ENSP00000354458:p.Ser472Cys						p.S472C	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			10	1510	+			472			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1414A>T	CCDS606.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.773922	0.49786	.	.	ENSG00000157131	ENST00000361249	D	0.85013	-1.93	5.55	3.12	0.35913	Membrane attack complex component/perforin (MACPF) domain (3);	0.474665	0.26612	N	0.023408	T	0.81969	0.4935	L	0.38175	1.15	0.09310	N	1	D	0.55385	0.971	P	0.56474	0.799	T	0.72191	-0.4365	10	0.59425	D	0.04	-15.8693	1.7589	0.02988	0.5702:0.1404:0.1539:0.1354	.	472	P07357	CO8A_HUMAN	C	472	ENSP00000354458:S472C	ENSP00000354458:S472C	S	+	1	0	C8A	57150697	0.040000	0.19996	0.725000	0.30721	0.501000	0.33797	1.071000	0.30666	0.952000	0.37798	0.533000	0.62120	AGC		0.602	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		36	70	0	0	0	1	0	36	70				
ATP1A2	477	broad.mit.edu	37	1	160099056	160099056	+	Splice_Site	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:160099056C>T	ENST00000361216.3	+	11	1416	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	ATP1A2_ENST00000392233.3_Splice_Site_p.R443W	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	443					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCTGGCAGCGGGACACAGC	0.557																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.e11-1		ATPase, Na+/K+ transporting, alpha 2 polypeptide							153.0	153.0	153.0					1																	160099056		2203	4300	6503	SO:0001630	splice_region_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160099056C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1327-1C>T	1.37:g.160099056C>T						ATP1A2_ENST00000392233.3_Splice_Site_p.R443_splice|ATP1A2_ENST00000472488.1_3'UTR	p.R443_splice	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		11	1416	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		443					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Splice_Site	SNP	ENST00000361216.3	37	c.1326_splice	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824677	0.71143	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.96554	-4.05;-4.05	4.66	4.66	0.58398	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.054442	0.64402	D	0.000001	D	0.91280	0.7251	L	0.33293	1	0.58432	D	0.999998	P;P;P	0.46656	0.882;0.857;0.882	P;B;P	0.46237	0.508;0.374;0.508	D	0.90290	0.4322	9	.	.	.	.	10.6605	0.45700	0.3085:0.6915:0.0:0.0	.	443;343;443	B1AKY9;F5GXJ7;P50993	.;.;AT1A2_HUMAN	W	443;443;146	ENSP00000354490:R443W;ENSP00000376066:R443W	.	R	+	1	2	ATP1A2	158365680	0.997000	0.39634	1.000000	0.80357	0.976000	0.68499	0.550000	0.23345	2.306000	0.77630	0.561000	0.74099	CGG		0.557	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	Missense_Mutation	84	163	0	0	0	1	0	84	163				
BCORL1	63035	broad.mit.edu	37	X	129147463	129147463	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:129147463G>A	ENST00000218147.7	+	4	912	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	BCORL1_ENST00000540052.1_Missense_Mutation_p.V239I|BCORL1_ENST00000359304.2_Missense_Mutation_p.V239I|BCORL1_ENST00000303743.5_Missense_Mutation_p.V239I			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	239	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCTTGTTCCAGTCCAAGTTGC	0.637																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(715-717)Gtc>Atc		BCL6 corepressor-like 1							152.0	137.0	142.0					X																	129147463		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147463G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.715G>A	X.37:g.129147463G>A	ENSP00000218147:p.Val239Ile					BCORL1_ENST00000303743.5_Missense_Mutation_p.V239I|BCORL1_ENST00000218147.7_Missense_Mutation_p.V239I|BCORL1_ENST00000359304.2_Missense_Mutation_p.V239I	p.V239I	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	759	+			239			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.715G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162859	0.38217	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.48836	0.82;1.2;0.8;0.82	3.33	3.33	0.38152	.	0.000000	0.32147	N	0.006508	T	0.23886	0.0578	N	0.08118	0	0.22940	N	0.998532	B;B	0.33171	0.4;0.279	B;B	0.30646	0.118;0.055	T	0.13308	-1.0514	9	.	.	.	-13.4409	10.8201	0.46599	0.0:0.1893:0.8107:0.0	.	239;239	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	I	239	ENSP00000218147:V239I;ENSP00000307541:V239I;ENSP00000352253:V239I;ENSP00000437775:V239I	.	V	+	1	0	BCORL1	128975144	0.003000	0.15002	1.000000	0.80357	0.948000	0.59901	0.835000	0.27531	1.917000	0.55516	0.436000	0.28706	GTC		0.637	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		92	163	0	0	0	1	0	92	163				
RIPK4	54101	broad.mit.edu	37	21	43161012	43161012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr21:43161012G>A	ENST00000352483.2	-	9	2549	c.2485C>T	c.(2485-2487)Cga>Tga	p.R829*	RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R718*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R718*|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R781*			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	829					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTCTTGCTTCGCCGCAGGAGC	0.672																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2485-2487)Cga>Tga		receptor-interacting serine-threonine kinase 4							22.0	24.0	23.0					21																	43161012		2194	4270	6464	SO:0001587	stop_gained	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161012G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2485C>T	21.37:g.43161012G>A	ENSP00000330161:p.Arg829*					RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R718*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R718*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R781*|AP001615.9_ENST00000423276.1_RNA	p.R829*			Q96T11	Q96T11_HUMAN			9	2549	-			781					Q96KH0	Nonsense_Mutation	SNP	ENST00000352483.2	37	c.2485C>T		.	.	.	.	.	.	.	.	.	.	G	21.1	4.100704	0.76983	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	.	.	.	4.8	1.8	0.24995	.	0.142088	0.31636	N	0.007309	.	.	.	.	.	.	0.21355	N	0.999714	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7071	3.6278	0.08120	0.0831:0.1329:0.4567:0.3272	.	.	.	.	X	781;829;718;718	.	ENSP00000332454:R781X	R	-	1	2	RIPK4	42034081	0.001000	0.12720	0.002000	0.10522	0.011000	0.07611	0.273000	0.18662	0.051000	0.15978	-0.137000	0.14449	CGA		0.672	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		15	40	0	0	0	1	0	15	40				
DNAH3	55567	broad.mit.edu	37	16	21049263	21049263	+	Silent	SNP	C	C	T	rs536529487		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:21049263C>T	ENST00000261383.3	-	34	4769	c.4770G>A	c.(4768-4770)tcG>tcA	p.S1590S	DNAH3_ENST00000415178.1_Silent_p.S1590S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1590	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAGTTGTTCCGAGCACAGGC	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		22454	0.001		0.0	False		,,,				2504	0.0					ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4768-4770)tcG>tcA		dynein, axonemal, heavy chain 3							106.0	82.0	90.0					16																	21049263		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21049263C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4770G>A	16.37:g.21049263C>T						DNAH3_ENST00000415178.1_Silent_p.S1590S	p.S1590S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	34	4769	-			1590			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.4770G>A	CCDS10594.1																																																																																				0.547	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		16	29	0	0	0	1	0	16	29				
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		8	229						8	229	---	---	---	---
GOLGA2	2801	broad.mit.edu	37	9	131019389	131019390	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr9:131019389_131019390insA	ENST00000421699.2	-	26	2977_2978	c.2965_2966insT	c.(2965-2967)tacfs	p.Y989fs	GOLGA2_ENST00000609374.1_Frame_Shift_Ins_p.Y977fs|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	989					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.Y977fs*9(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTCAGCCCGGTAAAAAAAAGGA	0.564																																						ENST00000421699.2																			2	Deletion - Frameshift(2)	p.Y977fs*9(2)	ovary(1)|large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2965-2967)ccgfs		golgin A2																																				SO:0001589	frameshift_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131019389_131019390insA	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2966dupT	9.37:g.131019397_131019397dupA	ENSP00000416097:p.Tyr989fs						p.P989fs	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			26	2977_2978	-			989					Q6GRM9|Q9BRB0|Q9NYF9	Frame_Shift_Ins	INS	ENST00000421699.2	37	c.2965_2966insT	CCDS6896.2																																																																																				0.564	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		7	220						7	220	---	---	---	---
LOC642426	642426	broad.mit.edu	37	14	19408019	19408019	+	lincRNA	DEL	A	A	-			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr14:19408019delA	ENST00000548050.1	-	0	279					NR_046104.1																						CTGTGGAGCCAAAAAAAAAAT	0.393																																						ENST00000548050.1																			0																																																			0							g.chr14:19408019delA																													14.37:g.19408019delA								NR_046104.1						0	279	-									RNA	DEL	ENST00000548050.1	37																																																																																						0.393	RP11-536C10.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000408404.1			3	3						3	3	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10248554	10248554	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:10248554delT	ENST00000418404.3	-	14	1712	c.1549delA	c.(1549-1551)atgfs	p.M517fs	MYH13_ENST00000252172.4_Frame_Shift_Del_p.M517fs			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	517	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCAGGTCCATTCCGAAGTCA	0.522																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(1549-1551)tgfs		myosin, heavy chain 13, skeletal muscle							192.0	167.0	176.0					17																	10248554		2203	4300	6503	SO:0001589	frameshift_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248554delT	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1549delA	17.37:g.10248554delT	ENSP00000404570:p.Met517fs					MYH13_ENST00000252172.4_Frame_Shift_Del_p.M517fs|MYH13_ENST00000570743.1_Frame_Shift_Del_p.M517fs	p.M517fs			Q9UKX3	MYH13_HUMAN			14	1712	-			517			Myosin head-like.		O95252|Q9P0U8	Frame_Shift_Del	DEL	ENST00000418404.3	37	c.1549delA	CCDS45613.1																																																																																				0.522	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		13	181						13	181	---	---	---	---
LINC01597	400841	broad.mit.edu	37	20	29517268	29517268	+	lincRNA	DEL	A	A	-	rs571513626	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr20:29517268delA	ENST00000380888.3	-	0	98																											CAAGAGCCCCAACAGGAGCTC	0.527													|||unknown(NO_COVERAGE)	4	0.000798722	0.0	0.0029	5008	,	,		19921	0.0		0.001	False		,,,				2504	0.001					ENST00000380888.3																			0																																																			0							g.chr20:29517268delA																													20.37:g.29517268delA														0	98	-									RNA	DEL	ENST00000380888.3	37																																																																																						0.527	RP4-610C12.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000256907.1			2	4						2	4	---	---	---	---
