#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5		NA																	1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gtggct>gct		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del	False	False		Somatic	1				ZFHX3_ENST00000397992.5_Intron	p.V777del	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72991713
CYP2D7	1564	broad.mit.edu	37	22	42538780	42538780	+	RNA	DEL	A	A	-			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr22:42538780delA	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																							TCGGTCACCCACTGCTCCAGC	0.682																																						ENST00000358097.4		NA																	0				endometrium(1)	1																																														0							g.chr22:42538780delA																													22.37:g.42538780delA		True	False		Somatic	1				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA				WXS	Illumina HiSeq	Phase_I					0	539	-			NA						RNA	DEL	ENST00000428786.1	37																																																																																						0.682	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1	0			22:42538780
CNTNAP5	129684	broad.mit.edu	37	2	125192174	125192175	+	Frame_Shift_Ins	INS	-	-	CGGGAAAGAAAAATTAGTGCATATTCTC			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:125192174_125192175insCGGGAAAGAAAAATTAGTGCATATTCTC	ENST00000431078.1	+	5	1007_1008	c.643_644insCGGGAAAGAAAAATTAGTGCATATTCTC	c.(643-645)gatfs	p.D215fs		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	215	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATGCAAGGAGATGGGGTCCTG	0.505																																						ENST00000431078.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(643-645)gatfs		contactin associated protein-like 5																																				SO:0001589	frameshift_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125192174_125192175insCGGGAAAGAAAAATTAGTGCATATTCTC	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	Exception_encountered	2.37:g.125192174_125192175insCGGGAAAGAAAAATTAGTGCATATTCTC	ENSP00000399013:p.Asp215fs	False	False		Somatic	0					p.D215fs	NM_130773.2	NP_570129.1	WXS	Illumina HiSeq	Phase_I	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	5	1007_1008	+			215			Laminin G-like 1.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Frame_Shift_Ins	INS	ENST00000431078.1	37	c.643_644insCGGGAAAGAAAAATTAGTGCATATTCTC	CCDS46401.1																																																																																				0.505	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	0			2:125192174
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
RC3H2	54542	broad.mit.edu	37	9	125621318	125621319	+	Frame_Shift_Ins	INS	-	-	AGTTCCTCCAGTACCT			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr9:125621318_125621319insAGTTCCTCCAGTACCT	ENST00000373670.1	-	11	2512_2513	c.1912_1913insAGGTACTGGAGGAACT	c.(1912-1914)aggfs	p.R638fs	RC3H2_ENST00000357244.2_Frame_Shift_Ins_p.R638fs|RC3H2_ENST00000423239.2_Frame_Shift_Ins_p.R638fs			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	638	Pro-rich.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GTTATTGGACCTCACAAAGCGA	0.46																																						ENST00000373670.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1912-1914)aggfs		ring finger and CCCH-type domains 2																																				SO:0001589	frameshift_variant	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125621318_125621319insAGTTCCTCCAGTACCT	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1912_1913insAGGTACTGGAGGAACT	9.37:g.125621318_125621319insAGTTCCTCCAGTACCT	ENSP00000362774:p.Arg638fs	False	False		Somatic	0				RC3H2_ENST00000357244.2_Frame_Shift_Ins_p.R638fs|RC3H2_ENST00000423239.2_Frame_Shift_Ins_p.R638fs	p.R638fs			WXS	Illumina HiSeq	Phase_I	Q9HBD1	RC3H2_HUMAN			11	2512_2513	-			638			Pro-rich.		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Frame_Shift_Ins	INS	ENST00000373670.1	37	c.1912_1913insAGGTACTGGAGGAACT	CCDS43874.1																																																																																				0.460	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	0	NM_018835		9:125621318
GPRASP2	114928	broad.mit.edu	37	X	101969855	101969855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chrX:101969855G>T	ENST00000535209.1	+	4	889	c.58G>T	c.(58-60)Gaa>Taa	p.E20*	GPRASP2_ENST00000543253.1_Nonsense_Mutation_p.E20*|GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.E20*			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	20						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAGGCTGGGGAAGAGGTTAT	0.527																																						ENST00000543253.1		NA																	0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(58-60)Gaa>Taa		G protein-coupled receptor associated sorting protein 2							106.0	104.0	105.0					X																	101969855		2203	4300	6503	SO:0001587	stop_gained	114928							g.chrX:101969855G>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.58G>T	X.37:g.101969855G>T	ENSP00000437394:p.Glu20*	True	False		Somatic	0				GPRASP2_ENST00000535209.1_Nonsense_Mutation_p.E20*|GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.E20*	p.E20*	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1	WXS	Illumina HiSeq	Phase_I					5	977	+			NA					D3DXA0|Q8NAB4	Nonsense_Mutation	SNP	ENST00000535209.1	37	c.58G>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	41	8.822422	0.98966	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	.	.	.	4.43	3.53	0.40419	.	0.173091	0.27946	N	0.017206	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	9.818	0.40865	0.0:0.2057:0.7943:0.0	.	.	.	.	X	20	.	ENSP00000339057:E20X	E	+	1	0	GPRASP2	101856511	0.961000	0.32948	0.994000	0.49952	0.615000	0.37417	1.145000	0.31577	0.921000	0.36994	0.468000	0.43344	GAA		0.527	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	0	NM_138437		X:101969855
PPP2R1B	5519	broad.mit.edu	37	11	111614250	111614250	+	Silent	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr11:111614250G>A	ENST00000527614.1	-	12	1469	c.1404C>T	c.(1402-1404)taC>taT	p.Y468Y	PPP2R1B_ENST00000427203.2_Silent_p.Y307Y|PPP2R1B_ENST00000426998.2_Silent_p.Y404Y|PPP2R1B_ENST00000393055.2_Silent_p.Y341Y|PPP2R1B_ENST00000311129.5_Silent_p.Y468Y|PPP2R1B_ENST00000341980.6_Silent_p.Y423Y	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	468					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTCGGATGGCGTATACTGCAG	0.388																																						ENST00000527614.1		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(1402-1404)taC>taT		protein phosphatase 2, regulatory subunit A, beta							149.0	137.0	141.0					11																	111614250		2201	4297	6498	SO:0001819	synonymous_variant	5519						protein binding	g.chr11:111614250G>A	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1404C>T	11.37:g.111614250G>A		False	False		Somatic	0				PPP2R1B_ENST00000393055.2_Silent_p.Y341Y|PPP2R1B_ENST00000341980.6_Silent_p.Y423Y|PPP2R1B_ENST00000427203.2_Silent_p.Y307Y|PPP2R1B_ENST00000311129.5_Silent_p.Y468Y|PPP2R1B_ENST00000426998.2_Silent_p.Y404Y	p.Y468Y	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	WXS	Illumina HiSeq	Phase_I	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	12	1469	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	468					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Silent	SNP	ENST00000527614.1	37	c.1404C>T	CCDS8349.1																																																																																				0.388	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	0	NM_002716		11:111614250
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R844H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		88	Substitution - Missense(88)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)cGt>cAt		GNAS complex locus							80.0	78.0	79.0					20																	57484421		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484421G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>A	20.37:g.57484421G>A	ENSP00000360126:p.Arg201His	False	False	TSP Lung(22;0.16)	Somatic	0				GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H	p.R844H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	WXS	Illumina HiSeq	Phase_I	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3083	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2531G>A	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT		0.423	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	0	NM_000516		20:57484421
ZNF513	130557	broad.mit.edu	37	2	27600645	27600645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:27600645G>A	ENST00000323703.6	-	4	1591	c.1393C>T	c.(1393-1395)Cgg>Tgg	p.R465W	ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Missense_Mutation_p.R403W	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	465					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTGTGCCGCAGCATGTGA	0.582																																						ENST00000323703.6		NA																	0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(1393-1395)Cgg>Tgg		zinc finger protein 513							162.0	158.0	160.0					2																	27600645		2203	4300	6503	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600645G>A	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1393C>T	2.37:g.27600645G>A	ENSP00000318373:p.Arg465Trp	False	False		Somatic	0				ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Missense_Mutation_p.R403W	p.R465W	NM_144631.5	NP_653232.3	WXS	Illumina HiSeq	Phase_I	Q8N8E2	ZN513_HUMAN			4	1591	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		465					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.1393C>T	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540370	0.27563	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.18502	2.21;2.21	4.77	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40640	N	0.001058	T	0.40171	0.1106	M	0.70595	2.14	0.39759	D	0.972004	D	0.89917	1.0	D	0.83275	0.996	T	0.40776	-0.9545	10	0.87932	D	0	-7.6818	14.0998	0.65046	0.0:0.0:0.8392:0.1608	.	465	Q8N8E2	ZN513_HUMAN	W	465;403	ENSP00000318373:R465W;ENSP00000384874:R403W	ENSP00000318373:R465W	R	-	1	2	ZNF513	27454149	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	4.501000	0.60393	2.490000	0.84030	0.655000	0.94253	CGG		0.582	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	0	NM_144631		2:27600645
ANAPC1	64682	broad.mit.edu	37	2	112625621	112625621	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:112625621G>C	ENST00000341068.3	-	7	1436	c.664C>G	c.(664-666)Cca>Gca	p.P222A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	222					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.P222A(3)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CAAACAAGTGGAGTTATTTCA	0.328																																						ENST00000341068.3		NA																	3	Substitution - Missense(3)	p.P222A(3)	lung(1)|prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(664-666)Cca>Gca		anaphase promoting complex subunit 1							56.0	60.0	59.0					2																	112625621		2203	4298	6501	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112625621G>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.664C>G	2.37:g.112625621G>C	ENSP00000339109:p.Pro222Ala	False	False		Somatic	0					p.P222A	NM_022662.3	NP_073153.1	WXS	Illumina HiSeq	Phase_I	Q9H1A4	APC1_HUMAN			7	1436	-			222					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.664C>G	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333736	0.81801	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.32	4.32	0.51571	.	0.000000	0.44688	U	0.000438	T	0.77018	0.4069	M	0.72353	2.195	0.80722	D	1	D	0.65815	0.995	D	0.71656	0.974	T	0.76277	-0.3018	9	0.34782	T	0.22	-16.3573	17.3402	0.87293	0.0:0.0:1.0:0.0	.	222	Q9H1A4	APC1_HUMAN	A	222	.	ENSP00000339109:P222A	P	-	1	0	ANAPC1	112342092	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.290000	0.89925	2.381000	0.81170	0.557000	0.71058	CCA		0.328	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	0	NM_022662		2:112625621
DHRS13	147015	broad.mit.edu	37	17	27228119	27228119	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:27228119G>A	ENST00000378895.4	-	4	697	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	RP11-20B24.4_ENST00000579187.1_RNA|DHRS13_ENST00000426464.2_Missense_Mutation_p.R110W|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000394901.3_Missense_Mutation_p.R141W|RP11-20B24.4_ENST00000580603.1_RNA	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	191			R -> Q (in dbSNP:rs2277666).			extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AGCTCCTGCCGCCAGCCCACC	0.632																																						ENST00000394901.3		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(421-423)Cgg>Tgg		dehydrogenase/reductase (SDR family) member 13							56.0	63.0	61.0					17																	27228119		2203	4300	6503	SO:0001583	missense	147015					extracellular region	binding|oxidoreductase activity	g.chr17:27228119G>A	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.571C>T	17.37:g.27228119G>A	ENSP00000368173:p.Arg191Trp	False	False		Somatic	0				DHRS13_ENST00000426464.2_Missense_Mutation_p.R110W|DHRS13_ENST00000378895.4_Missense_Mutation_p.R191W	p.R141W			WXS	Illumina HiSeq	Phase_I	Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		3	813	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		191					Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	37	c.421C>T	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538454	0.65085	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	D;D;D	0.89617	-2.54;-2.54;-2.54	5.18	4.15	0.48705	NAD(P)-binding domain (1);	1.760290	0.02250	N	0.066486	D	0.85531	0.5718	L	0.40543	1.245	0.24342	N	0.994955	D;D	0.62365	0.991;0.964	B;B	0.43123	0.409;0.232	T	0.75042	-0.3457	10	0.51188	T	0.08	.	5.2688	0.15613	0.0981:0.0:0.5511:0.3509	.	110;191	B4DJC5;Q6UX07	.;DHR13_HUMAN	W	191;141;110	ENSP00000368173:R191W;ENSP00000378361:R141W;ENSP00000412826:R110W	ENSP00000368173:R191W	R	-	1	2	DHRS13	24252245	0.994000	0.37717	0.968000	0.41197	0.978000	0.69477	2.452000	0.44961	2.406000	0.81754	0.462000	0.41574	CGG		0.632	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	0	NM_144683		17:27228119
ZC2HC1A	51101	broad.mit.edu	37	8	79629684	79629684	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr8:79629684G>A	ENST00000263849.4	+	9	1036	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	IL7_ENST00000519833.1_5'Flank	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	312							metal ion binding (GO:0046872)										TGTAGAATGGGCCAAATTTTG	0.358																																						ENST00000263849.4		NA																	0					NA						c.(934-936)Gcc>Acc		zinc finger, C2HC-type containing 1A							149.0	151.0	150.0					8																	79629684		2203	4300	6503	SO:0001583	missense	51101							g.chr8:79629684G>A		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.934G>A	8.37:g.79629684G>A	ENSP00000263849:p.Ala312Thr	True	False		Somatic	0					p.A312T	NM_016010.2	NP_057094.2	WXS	Illumina HiSeq	Phase_I	Q96GY0	F164A_HUMAN			9	1036	+			312					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.934G>A	CCDS6223.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.750688|4.750688	0.89753|0.89753	.|.	.|.	ENSG00000104427|ENSG00000104427	ENST00000263849|ENST00000519307	T|.	0.58652|.	0.32|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.047976|.	0.85682|.	D|.	0.000000|.	T|T	0.75925|0.75925	0.3916|0.3916	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.75230|0.75230	-0.3391|-0.3391	9|5	.|.	.|.	.|.	-18.263|-18.263	18.9518|18.9518	0.92643|0.92643	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	312|.	Q96GY0|.	F164A_HUMAN|.	T|D	312|183	ENSP00000263849:A312T|.	.|.	A|G	+|+	1|2	0|0	FAM164A|FAM164A	79792239|79792239	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.373000|7.373000	0.79623|0.79623	2.548000|2.548000	0.85928|0.85928	0.591000|0.591000	0.81541|0.81541	GCC|GGC		0.358	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	0	NM_016010		8:79629684
SYCP2	10388	broad.mit.edu	37	20	58443596	58443596	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr20:58443596C>G	ENST00000357552.3	-	38	4085	c.3860G>C	c.(3859-3861)aGa>aCa	p.R1287T	SYCP2_ENST00000371001.2_Missense_Mutation_p.R1287T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1287					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TATATATATTCTTTTGCGACT	0.323																																						ENST00000357552.3		NA																	0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3859-3861)aGa>aCa		synaptonemal complex protein 2							87.0	86.0	86.0					20																	58443596		2203	4299	6502	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58443596C>G	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3860G>C	20.37:g.58443596C>G	ENSP00000350162:p.Arg1287Thr	True	False		Somatic	0				SYCP2_ENST00000371001.2_Missense_Mutation_p.R1287T	p.R1287T			WXS	Illumina HiSeq	Phase_I	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		38	4085	-	all_lung(29;0.00344)		1287					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.3860G>C	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605911	0.46527	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.43294	0.95;0.95	5.77	4.83	0.62350	.	0.000000	0.53938	D	0.000049	T	0.60261	0.2255	M	0.66939	2.045	0.30863	N	0.733263	D	0.76494	0.999	D	0.74023	0.982	T	0.65668	-0.6112	10	0.59425	D	0.04	-7.4813	11.8305	0.52293	0.0:0.9185:0.0:0.0815	.	1287	Q9BX26	SYCP2_HUMAN	T	1287	ENSP00000360040:R1287T;ENSP00000350162:R1287T	ENSP00000350162:R1287T	R	-	2	0	SYCP2	57876991	0.985000	0.35326	0.874000	0.34290	0.211000	0.24417	1.642000	0.37207	1.450000	0.47717	0.591000	0.81541	AGA		0.323	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	0	NM_014258		20:58443596
SEC24B	10427	broad.mit.edu	37	4	110447472	110447472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:110447472C>T	ENST00000265175.5	+	17	2937	c.2882C>T	c.(2881-2883)gCg>gTg	p.A961V	SEC24B_ENST00000504968.2_Missense_Mutation_p.A991V|SEC24B_ENST00000399100.2_Missense_Mutation_p.A926V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	961					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GCTGGATTTGCGGTGCAGTTG	0.363																																						ENST00000265175.5		NA																	0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2881-2883)gCg>gTg		SEC24 family member B							174.0	158.0	163.0					4																	110447472		1862	4089	5951	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110447472C>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2882C>T	4.37:g.110447472C>T	ENSP00000265175:p.Ala961Val	False	False		Somatic	0				SEC24B_ENST00000399100.2_Missense_Mutation_p.A926V|SEC24B_ENST00000504968.2_Missense_Mutation_p.A991V	p.A961V	NM_006323.2	NP_006314.2	WXS	Illumina HiSeq	Phase_I	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	17	2937	+		Hepatocellular(203;0.217)	961					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.2882C>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421208	0.96111	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.77098	-1.07;-1.07;-1.07	5.3	5.3	0.74995	Sec23/Sec24 beta-sandwich (1);	0.049795	0.85682	D	0.000000	D	0.84397	0.5463	L	0.46567	1.45	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.66716	0.946;0.942;0.946;0.911;0.946	T	0.82989	-0.0183	10	0.39692	T	0.17	-20.8388	19.3486	0.94374	0.0:1.0:0.0:0.0	.	875;560;991;926;961	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	V	991;926;961	ENSP00000428564:A991V;ENSP00000382051:A926V;ENSP00000265175:A961V	ENSP00000265175:A961V	A	+	2	0	SEC24B	110666921	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.818000	0.86416	2.644000	0.89710	0.655000	0.94253	GCG		0.363	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2	0			4:110447472
CHD4	1108	broad.mit.edu	37	12	6710455	6710455	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:6710455C>T	ENST00000357008.2	-	6	962	c.799G>A	c.(799-801)Ggt>Agt	p.G267S	CHD4_ENST00000544040.1_Splice_Site_p.G260S|CHD4_ENST00000544484.1_Splice_Site_p.G264S|CHD4_ENST00000309577.6_Splice_Site_p.G267S	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	267					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CCCATTTCACCTTTGCCCTCC	0.557																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6		NA																	0				central_nervous_system(2)	2						c.e6+1		chromodomain helicase DNA binding protein 4							111.0	114.0	113.0					12																	6710455		2203	4300	6503	SO:0001630	splice_region_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6710455C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.799+1G>A	12.37:g.6710455C>T		True	False		Somatic	0				CHD4_ENST00000544040.1_Splice_Site_p.G260_splice|CHD4_ENST00000357008.2_Splice_Site_p.G267_splice|CHD4_ENST00000544484.1_Splice_Site_p.G264_splice	p.G267_splice			WXS	Illumina HiSeq	Phase_I	Q14839	CHD4_HUMAN			6	962	-			267					Q8IXZ5	Splice_Site	SNP	ENST00000357008.2	37	c.799_splice	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527638	0.85706	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90069	-2.59;-2.61;-2.59;-2.61;0.5	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.94732	0.8300	M	0.82323	2.585	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.61	D;D;B	0.91635	0.999;0.999;0.256	D	0.94514	0.7721	9	.	.	.	-5.4851	16.8611	0.86018	0.0:0.872:0.128:0.0	.	267;267;260	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	S	264;260;267;267;241;267	ENSP00000440392:G264S;ENSP00000440542:G260S;ENSP00000312419:G267S;ENSP00000349508:G267S;ENSP00000437506:G267S	.	G	-	1	0	CHD4	6580716	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.612000	0.54142	2.705000	0.92388	0.555000	0.69702	GGT		0.557	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001273	Missense_Mutation	12:6710455
SLC17A8	246213	broad.mit.edu	37	12	100795569	100795569	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:100795569G>A	ENST00000323346.5	+	6	1004	c.691G>A	c.(691-693)Gca>Aca	p.A231T	SLC17A8_ENST00000392989.3_Missense_Mutation_p.A231T|snoU13_ENST00000459038.1_RNA	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	231					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CTATGCAGGGGCAGTGGTTGC	0.443																																						ENST00000323346.5		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(691-693)Gca>Aca		solute carrier family 17 (vesicular glutamate transporter), member 8							265.0	252.0	256.0					12																	100795569		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100795569G>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.691G>A	12.37:g.100795569G>A	ENSP00000316909:p.Ala231Thr	True	False		Somatic	0				SLC17A8_ENST00000392989.3_Missense_Mutation_p.A231T	p.A231T	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	WXS	Illumina HiSeq	Phase_I	Q8NDX2	VGLU3_HUMAN			6	1004	+			231					B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.691G>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219505	0.58560	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.58060	0.36;0.36	5.45	5.45	0.79879	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	N	0.20986	0.625	0.80722	D	1	D;D	0.67145	0.996;0.984	D;D	0.72625	0.978;0.939	T	0.44298	-0.9337	10	0.02654	T	1	.	19.661	0.95871	0.0:0.0:1.0:0.0	.	231;231	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	T	231	ENSP00000316909:A231T;ENSP00000376715:A231T	ENSP00000316909:A231T	A	+	1	0	SLC17A8	99319700	1.000000	0.71417	0.978000	0.43139	0.427000	0.31564	9.796000	0.99103	2.714000	0.92807	0.563000	0.77884	GCA		0.443	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	0	NM_139319		12:100795569
DDX10	1662	broad.mit.edu	37	11	108546412	108546412	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr11:108546412G>A	ENST00000322536.3	+	3	466	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	DDX10_ENST00000526794.1_Missense_Mutation_p.A113T	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	113	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.A113T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ACTTGGAGCGGCCAAAACTGG	0.438			T	NUP98	AML*																																	ENST00000526794.1		NA		Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		1	Substitution - Missense(1)	p.A113T(1)	kidney(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(337-339)Gcc>Acc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							157.0	147.0	150.0					11																	108546412		2201	4298	6499	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108546412G>A	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.337G>A	11.37:g.108546412G>A	ENSP00000314348:p.Ala113Thr	False	False		Somatic	0				DDX10_ENST00000322536.3_Missense_Mutation_p.A113T	p.A113T			WXS	Illumina HiSeq	Phase_I	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	3	369	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	113			Helicase ATP-binding.		B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.337G>A	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	36	5.649371	0.96714	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.22539	1.95;1.95	5.82	5.82	0.92795	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.046541	0.85682	N	0.000000	T	0.53302	0.1788	H	0.95679	3.705	0.80722	D	1	P;P	0.48764	0.858;0.915	P;P	0.51055	0.657;0.657	T	0.67921	-0.5545	10	0.87932	D	0	-4.8073	20.1566	0.98115	0.0:0.0:1.0:0.0	.	113;113	Q13206;E9PIF2	DDX10_HUMAN;.	T	113	ENSP00000314348:A113T;ENSP00000432032:A113T	ENSP00000314348:A113T	A	+	1	0	DDX10	108051622	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.413000	0.97351	2.779000	0.95612	0.603000	0.83216	GCC		0.438	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	0	NM_004398		11:108546412
RHOH	399	broad.mit.edu	37	4	40245187	40245187	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:40245187G>A	ENST00000381799.5	+	3	905	c.181G>A	c.(181-183)Ggc>Agc	p.G61S	RHOH_ENST00000505618.1_Missense_Mutation_p.G61S	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	61					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GGACACAGCCGGCAATGACGC	0.582																																						ENST00000381799.4		NA																	0				kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(181-183)Ggc>Agc		ras homolog family member H							94.0	86.0	89.0					4																	40245187		2203	4300	6503	SO:0001583	missense	399				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	g.chr4:40245187G>A	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.181G>A	4.37:g.40245187G>A	ENSP00000371219:p.Gly61Ser	False	False		Somatic	0				RHOH_ENST00000505618.1_Missense_Mutation_p.G61S	p.G61S	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	WXS	Illumina HiSeq	Phase_I	Q15669	RHOH_HUMAN			3	905	+			61						Missense_Mutation	SNP	ENST00000381799.5	37	c.181G>A	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	28.3	4.906906	0.92107	.	.	ENSG00000168421	ENST00000505618;ENST00000507851;ENST00000503941;ENST00000381799	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.65	5.65	0.86999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98994	1.0809	10	0.87932	D	0	.	19.7124	0.96100	0.0:0.0:1.0:0.0	.	61	Q15669	RHOH_HUMAN	S	61	ENSP00000425010:G61S;ENSP00000423384:G61S;ENSP00000426439:G61S;ENSP00000371219:G61S	ENSP00000371219:G61S	G	+	1	0	RHOH	39921582	1.000000	0.71417	0.943000	0.38184	0.617000	0.37484	9.476000	0.97823	2.655000	0.90218	0.591000	0.81541	GGC		0.582	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	0	NM_004310		4:40245187
HERC2P2	400322	broad.mit.edu	37	15	23316050	23316050	+	RNA	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr15:23316050G>A	ENST00000560464.1	-	0	2889									hect domain and RLD 2 pseudogene 2																		GCAGCAGTCCGCATAAAGTCT	0.512																																						ENST00000560464.1		NA																	0					NA																																														0							g.chr15:23316050G>A	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23316050G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	2889	-			NA						RNA	SNP	ENST00000560464.1	37																																																																																						0.512	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1	0			15:23316050
GFER	2671	broad.mit.edu	37	16	2035947	2035947	+	Missense_Mutation	SNP	G	G	A	rs199541169		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr16:2035947G>A	ENST00000248114.6	+	3	542	c.536G>A	c.(535-537)cGc>cAc	p.R179H	AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000569451.1_3'UTR|GFER_ENST00000567719.1_Missense_Mutation_p.R104H	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	179	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|protein disulfide oxidoreductase activity (GO:0015035)|thiol oxidase activity (GO:0016972)			endometrium(1)|large_intestine(1)|lung(3)	5					Flavin adenine dinucleotide(DB03147)	GAAGTGAACCGCAAGCTGGGC	0.607																																						ENST00000248114.6		NA																	0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(535-537)cGc>cAc		growth factor, augmenter of liver regeneration		G	HIS/ARG	0,4396		0,0,2198	94.0	90.0	91.0		536	1.1	1.0	16		91	2,8598	2.2+/-6.3	0,2,4298	no	missense	GFER	NM_005262.2	29	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	benign	179/206	2035947	2,12994	2198	4300	6498	SO:0001583	missense	2671				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity	g.chr16:2035947G>A	BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554			4236	protein-coding gene	gene with protein product	"""ERV1 homolog (S. cerevisiae)"""	600924	"""growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)"""			8575761	Standard	NM_005262		Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.536G>A	16.37:g.2035947G>A	ENSP00000248114:p.Arg179His	False	False		Somatic	0				GFER_ENST00000569451.1_3'UTR|GFER_ENST00000567719.1_Missense_Mutation_p.R104H|AC005606.14_ENST00000564438.1_lincRNA	p.R179H	NM_005262.2	NP_005253.3	WXS	Illumina HiSeq	Phase_I	P55789	ALR_HUMAN			3	542	+			179			ERV/ALR sulfhydryl oxidase.		Q53YM6|Q8TAH6|Q9H290|Q9UK40	Missense_Mutation	SNP	ENST00000248114.6	37	c.536G>A	CCDS32368.1	.	.	.	.	.	.	.	.	.	.	g	14.92	2.680098	0.47886	0.0	2.33E-4	ENSG00000127554	ENST00000248114	T	0.55234	0.53	4.43	1.06	0.20224	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);	0.442657	0.21663	N	0.070988	T	0.54775	0.1879	M	0.89601	3.045	0.43304	D	0.995307	B;B	0.17667	0.023;0.01	B;B	0.13407	0.009;0.009	T	0.56038	-0.8045	10	0.66056	D	0.02	-13.2452	6.6271	0.22837	0.1669:0.0:0.6913:0.1418	.	105;179	Q9UQK8;P55789	.;ALR_HUMAN	H	179	ENSP00000248114:R179H	ENSP00000248114:R179H	R	+	2	0	GFER	1975948	0.135000	0.22499	0.986000	0.45419	0.823000	0.46562	0.436000	0.21526	0.420000	0.25954	0.511000	0.50034	CGC		0.607	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	0	NM_005262		16:2035947
TMEM215	401498	broad.mit.edu	37	9	32784414	32784414	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr9:32784414G>A	ENST00000342743.5	+	2	598	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	78						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTGTGGGTCCGCAAATTGCCC	0.597																																						ENST00000342743.5		NA																	0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(232-234)cGc>cAc		transmembrane protein 215							85.0	76.0	79.0					9																	32784414		2203	4300	6503	SO:0001583	missense	401498					integral to membrane		g.chr9:32784414G>A		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.233G>A	9.37:g.32784414G>A	ENSP00000345468:p.Arg78His	False	False		Somatic	0					p.R78H	NM_212558.2	NP_997723.2	WXS	Illumina HiSeq	Phase_I	Q68D42	TM215_HUMAN			2	598	+			78					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.233G>A	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	8.409	0.843700	0.16963	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.18	4.28	0.50868	.	0.113770	0.38326	N	0.001736	T	0.31040	0.0784	N	0.19112	0.55	0.30856	N	0.734062	B	0.25169	0.119	B	0.17433	0.018	T	0.31530	-0.9940	9	0.56958	D	0.05	-16.3167	9.7196	0.40295	0.0963:0.0:0.9037:0.0	.	78	Q68D42	TM215_HUMAN	H	78	.	ENSP00000345468:R78H	R	+	2	0	TMEM215	32774414	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	3.258000	0.51507	1.184000	0.42957	-0.258000	0.10820	CGC		0.597	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	0	NM_212558		9:32784414
ADAMTS19	171019	broad.mit.edu	37	5	128983576	128983576	+	Missense_Mutation	SNP	G	G	A	rs373980646		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr5:128983576G>A	ENST00000274487.4	+	12	2118	c.1973G>A	c.(1972-1974)cGc>cAc	p.R658H	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	658	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGTCGAGAGCGCAAATGTCCT	0.507																																						ENST00000274487.4		NA																	0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1972-1974)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 19		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	121.0	122.0		1973	4.6	1.0	5		122	0,8600		0,0,4300	no	missense	ADAMTS19	NM_133638.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	658/1208	128983576	1,13005	2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128983576G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1973G>A	5.37:g.128983576G>A	ENSP00000274487:p.Arg658His	False	False		Somatic	0				CTC-575N7.1_ENST00000503616.1_RNA	p.R658H	NM_133638.3	NP_598377.3	WXS	Illumina HiSeq	Phase_I	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	12	2118	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	658			TSP type-1 1.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1973G>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663990	0.88251	2.27E-4	0.0	ENSG00000145808	ENST00000274487	T	0.65364	-0.15	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000002	D	0.85613	0.5737	H	0.95043	3.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89721	0.3919	9	.	.	.	.	18.693	0.91590	0.0:0.0:1.0:0.0	.	658	Q8TE59	ATS19_HUMAN	H	658	ENSP00000274487:R658H	.	R	+	2	0	ADAMTS19	129011475	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.292000	0.78731	2.831000	0.97527	0.650000	0.86243	CGC		0.507	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	0	NM_133638		5:128983576
ABCG4	64137	broad.mit.edu	37	11	119020905	119020905	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr11:119020905G>A	ENST00000449422.2	+	2	418	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ABCG4_ENST00000307417.3_Missense_Mutation_p.R77H|ABCG4_ENST00000531739.1_Missense_Mutation_p.R77H	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	77	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCTGCTGGCGCAAAAGGGGT	0.622																																						ENST00000307417.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(229-231)cGc>cAc		ATP-binding cassette, sub-family G (WHITE), member 4							66.0	75.0	72.0					11																	119020905		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119020905G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.230G>A	11.37:g.119020905G>A	ENSP00000406874:p.Arg77His	False	False		Somatic	0				ABCG4_ENST00000449422.2_Missense_Mutation_p.R77H|ABCG4_ENST00000531739.1_Missense_Mutation_p.R77H	p.R77H	NM_022169.4	NP_071452.2	WXS	Illumina HiSeq	Phase_I	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	2	594	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	77			ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.230G>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366993	0.82463	.	.	ENSG00000172350	ENST00000307417;ENST00000524604;ENST00000449422;ENST00000531739	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	4.34	4.34	0.51931	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.11281	0.0275	L	0.35487	1.065	0.53688	D	0.999975	D	0.67145	0.996	P	0.47470	0.548	T	0.06807	-1.0806	10	0.51188	T	0.08	-22.516	17.1003	0.86647	0.0:0.0:1.0:0.0	.	77	Q9H172	ABCG4_HUMAN	H	77	ENSP00000304111:R77H;ENSP00000431915:R77H;ENSP00000406874:R77H;ENSP00000434318:R77H	ENSP00000304111:R77H	R	+	2	0	ABCG4	118526115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.502000	0.66956	2.272000	0.75746	0.644000	0.83932	CGC		0.622	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	0	NM_022169		11:119020905
EIF4ENIF1	56478	broad.mit.edu	37	22	31844167	31844167	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr22:31844167C>T	ENST00000397525.1	-	13	2043	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R262H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R432H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R607H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R583H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	607						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATGGGTTTGCGCATGCCTTG	0.537																																						ENST00000397525.1		NA																	0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1819-1821)cGc>cAc		eukaryotic translation initiation factor 4E nuclear import factor 1							242.0	210.0	221.0					22																	31844167		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31844167C>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1820G>A	22.37:g.31844167C>T	ENSP00000380659:p.Arg607His	False	False		Somatic	0				EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R607H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R583H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R262H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R432H	p.R607H	NM_001164501.1	NP_001157973.1	WXS	Illumina HiSeq	Phase_I	Q9NRA8	4ET_HUMAN			13	2043	-			607					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.1820G>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713180	0.68730	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000418321	.	.	.	6.16	5.15	0.70609	.	0.182608	0.51477	D	0.000084	T	0.54902	0.1887	N	0.21373	0.66	0.40366	D	0.979293	D;D;B;B	0.89917	1.0;0.999;0.251;0.007	D;P;B;B	0.66602	0.945;0.903;0.03;0.011	T	0.52983	-0.8502	9	0.23891	T	0.37	-6.7681	12.949	0.58389	0.0:0.9262:0.0:0.0738	.	432;607;432;583	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	H	432;607;607;583;262;164	.	ENSP00000328103:R607H	R	-	2	0	EIF4ENIF1	30174167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.390000	0.34464	1.628000	0.50416	0.650000	0.86243	CGC		0.537	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	0	NM_019843		22:31844167
CCIN	881	broad.mit.edu	37	9	36170278	36170278	+	Missense_Mutation	SNP	G	G	A	rs146585082	byFrequency	TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr9:36170278G>A	ENST00000335119.2	+	1	890	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	260					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R260H(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CTGATGGACCGCAAGCAGGAG	0.592																																						ENST00000335119.2		NA																	1	Substitution - Missense(1)	p.R260H(1)	skin(1)	breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(778-780)cGc>cAc		calicin		G	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	45.0	39.0	41.0		779	5.8	1.0	9	dbSNP_134	41	0,8600		0,0,4300	yes	missense	CCIN	NM_005893.2	29	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging	260/589	36170278	5,13001	2203	4300	6503	SO:0001583	missense	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170278G>A	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.779G>A	9.37:g.36170278G>A	ENSP00000334996:p.Arg260His	False	False		Somatic	0					p.R260H	NM_005893.2	NP_005884.2	WXS	Illumina HiSeq	Phase_I	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	890	+			260					Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	c.779G>A	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922874	0.52653	0.001135	0.0	ENSG00000185972	ENST00000335119	T	0.66460	-0.21	5.84	5.84	0.93424	.	0.000000	0.51477	D	0.000083	T	0.71693	0.3370	L	0.29908	0.895	0.36921	D	0.891407	D	0.71674	0.998	D	0.72075	0.976	T	0.70872	-0.4754	10	0.25751	T	0.34	.	15.6397	0.76989	0.0:0.0:1.0:0.0	.	260	Q13939	CALI_HUMAN	H	260	ENSP00000334996:R260H	ENSP00000334996:R260H	R	+	2	0	CCIN	36160278	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.667000	0.68067	2.770000	0.95276	0.563000	0.77884	CGC		0.592	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	0	NM_005893		9:36170278
PCDHA3	56145	broad.mit.edu	37	5	140181599	140181599	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr5:140181599G>C	ENST00000522353.2	+	1	817	c.817G>C	c.(817-819)Gta>Cta	p.V273L	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V273L	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	273	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGAAGGAGTAAATAAGGA	0.418																																						ENST00000522353.2		NA																	0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(817-819)Gta>Cta									83.0	79.0	80.0					5																	140181599		2203	4300	6503	SO:0001583	missense	0							g.chr5:140181599G>C	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.817G>C	5.37:g.140181599G>C	ENSP00000429808:p.Val273Leu	False	False		Somatic	0				PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V273L|PCDHA1_ENST00000394633.3_Intron	p.V273L	NM_018906.2	NP_061729.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	817	+			NA					O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.817G>C	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	0.019	-1.464418	0.01053	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.49432	0.78;0.78	4.79	-3.24	0.05094	Cadherin (4);Cadherin-like (1);	0.722810	0.11072	U	0.602758	T	0.20981	0.0505	N	0.11106	0.095	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.17979	0.004;0.02	T	0.24297	-1.0164	10	0.17369	T	0.5	.	5.119	0.14851	0.5648:0.0:0.1703:0.2649	.	273;273	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	273	ENSP00000429808:V273L;ENSP00000434086:V273L	ENSP00000429808:V273L	V	+	1	0	PCDHA3	140161783	0.000000	0.05858	0.924000	0.36721	0.764000	0.43329	-2.774000	0.00777	-0.298000	0.08921	0.467000	0.42956	GTA		0.418	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	0	NM_018906		5:140181599
MAATS1	89876	broad.mit.edu	37	3	119428733	119428733	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr3:119428733C>T	ENST00000273390.5	+	5	568	c.491C>T	c.(490-492)gCc>gTc	p.A164V	MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	164						mitochondrion (GO:0005739)											GTTGTTTATGCCGTATCCAAG	0.328																																						ENST00000273390.5		NA																	0					NA						c.(490-492)gCc>gTc		MYCBP-associated, testis expressed 1							205.0	201.0	203.0					3																	119428733		2202	4300	6502	SO:0001583	missense	89876							g.chr3:119428733C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.491C>T	3.37:g.119428733C>T	ENSP00000273390:p.Ala164Val	False	False		Somatic	0				MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	p.A164V	NM_033364.3	NP_203528.2	WXS	Illumina HiSeq	Phase_I					5	568	+			NA					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.491C>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	8.014	0.758185	0.15846	.	.	ENSG00000183833	ENST00000273390;ENST00000463700	T;T	0.50813	1.72;0.73	5.34	4.46	0.54185	.	0.368951	0.29417	N	0.012220	T	0.46092	0.1375	L	0.47716	1.5	0.34195	D	0.672468	B;P;B;P;B	0.39480	0.291;0.604;0.113;0.675;0.383	B;B;B;B;B	0.42771	0.316;0.397;0.062;0.298;0.116	T	0.58340	-0.7653	10	0.30078	T	0.28	-10.2043	14.624	0.68608	0.1473:0.8527:0.0:0.0	.	164;102;164;164;164	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	AAT1_HUMAN;.;.;.;.	V	164	ENSP00000273390:A164V;ENSP00000419489:A164V	ENSP00000273390:A164V	A	+	2	0	C3orf15	120911423	0.211000	0.23529	0.517000	0.27799	0.473000	0.32948	1.353000	0.34045	1.372000	0.46190	0.655000	0.94253	GCC		0.328	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	0	NM_033364		3:119428733
KCNH4	23415	broad.mit.edu	37	17	40328179	40328179	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:40328179G>A	ENST00000264661.3	-	5	1054	c.722C>T	c.(721-723)gCg>gTg	p.A241V	KCNH4_ENST00000607371.1_Missense_Mutation_p.A241V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	241					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACGGTGACCGCAACGTAGAA	0.602																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3		NA																	0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(721-723)gCg>gTg		potassium voltage-gated channel, subfamily H (eag-related), member 4							141.0	114.0	123.0					17																	40328179		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40328179G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.722C>T	17.37:g.40328179G>A	ENSP00000264661:p.Ala241Val	False	False		Somatic	0				KCNH4_ENST00000607371.1_Missense_Mutation_p.A241V	p.A241V	NM_012285.2	NP_036417.1	WXS	Illumina HiSeq	Phase_I	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	1054	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	241						Missense_Mutation	SNP	ENST00000264661.3	37	c.722C>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	36	5.891215	0.97074	.	.	ENSG00000089558	ENST00000264661	D	0.97256	-4.31	5.45	5.45	0.79879	.	0.000000	0.40554	N	0.001070	D	0.98454	0.9485	M	0.88450	2.955	0.80722	D	1	D	0.67145	0.996	P	0.58970	0.849	D	0.99170	1.0864	10	0.87932	D	0	.	19.4711	0.94963	0.0:0.0:1.0:0.0	.	241	Q9UQ05	KCNH4_HUMAN	V	241	ENSP00000264661:A241V	ENSP00000264661:A241V	A	-	2	0	KCNH4	37581705	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.611000	0.98342	2.840000	0.97914	0.655000	0.94253	GCG		0.602	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	0	NM_012285		17:40328179
KIR3DL1	3811	broad.mit.edu	37	19	55282301	55282301	+	Intron	SNP	G	G	C			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr19:55282301G>C	ENST00000538269.1	+	1	61				KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Splice_Site_p.G12A|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Splice_Site_p.G12A|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TTCTTTCCAGGGTTCTTCTTG	0.567																																						ENST00000336077.6		NA																	0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.e2-1		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							40.0	36.0	37.0					19																	55282301		1482	2825	4307	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55282301G>C	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.34+46266G>C	19.37:g.55282301G>C		True	False		Somatic	0				KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Splice_Site_p.G12_splice|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	p.G12_splice	NM_014218.2	NP_055033.2	WXS	Illumina HiSeq	Phase_I	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	2	75	+			12					O43473|Q14946|Q16541	Splice_Site	SNP	ENST00000538269.1	37	c.34_splice		.	.	.	.	.	.	.	.	.	.	G	4.743	0.138111	0.09083	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.00547	6.67;6.66	0.704	-0.539	0.11865	.	.	.	.	.	T	0.00724	0.0024	M	0.82056	2.57	0.09310	N	1	B;B	0.31752	0.002;0.338	B;B	0.32342	0.005;0.144	T	0.35151	-0.9800	8	.	.	.	.	4.9904	0.14211	0.2546:0.0:0.7454:0.0	.	12;12	Q6IST4;Q6H2H3	.;.	A	12	ENSP00000336769:G12A;ENSP00000291633:G12A	.	G	+	2	0	KIR2DL1	59974113	0.000000	0.05858	0.009000	0.14445	0.019000	0.09904	0.013000	0.13310	-0.155000	0.11098	0.398000	0.26397	GGG		0.567	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_013289		19:55282301
RBM28	55131	broad.mit.edu	37	7	127964701	127964701	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr7:127964701G>A	ENST00000223073.2	-	12	1364	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	RBM28_ENST00000415472.2_Missense_Mutation_p.A276V	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	417	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACGGGTCACCGCCAAGTCAAC	0.552																																						ENST00000223073.1		NA																	0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1249-1251)gCg>gTg		RNA binding motif protein 28							161.0	166.0	164.0					7																	127964701		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127964701G>A	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1250C>T	7.37:g.127964701G>A	ENSP00000223073:p.Ala417Val	False	False		Somatic	0				RBM28_ENST00000415472.2_Missense_Mutation_p.A276V	p.A417V	NM_018077.2	NP_060547.2	WXS	Illumina HiSeq	Phase_I	Q9NW13	RBM28_HUMAN			12	1364	-			417			RRM 3.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1250C>T	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490769	0.96339	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.80566	-1.39;-1.39	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.104763	0.64402	D	0.000004	D	0.90120	0.6913	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.986;0.999	D	0.90475	0.4456	10	0.87932	D	0	-12.3433	16.3795	0.83443	0.0:0.0:1.0:0.0	.	276;417;276	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	V	417;276	ENSP00000223073:A417V;ENSP00000390517:A276V	ENSP00000223073:A417V	A	-	2	0	RBM28	127751937	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	7.764000	0.85297	2.941000	0.99782	0.655000	0.94253	GCG		0.552	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	0	NM_018077		7:127964701
GRID1	2894	broad.mit.edu	37	10	87487669	87487669	+	Silent	SNP	G	G	A	rs149876378		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr10:87487669G>A	ENST00000327946.7	-	10	1561	c.1476C>T	c.(1474-1476)taC>taT	p.Y492Y	GRID1_ENST00000536331.1_Silent_p.Y63Y	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	492					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.Y492Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GCTGGTGACCGTACCTGCCAT	0.557										Multiple Myeloma(13;0.14)																												ENST00000327946.7		NA																	1	Substitution - coding silent(1)	p.Y492Y(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(1474-1476)taC>taT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						140.0	131.0	134.0					10																	87487669		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87487669G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1476C>T	10.37:g.87487669G>A		False	False	Multiple Myeloma(13;0.14)	Somatic	0				GRID1_ENST00000536331.1_Silent_p.Y63Y	p.Y492Y	NM_017551.2	NP_060021.1	WXS	Illumina HiSeq	Phase_I	Q9ULK0	GRID1_HUMAN			10	1561	-			492					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.1476C>T	CCDS31236.1																																																																																				0.557	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	0	XM_043613		10:87487669
OTX1	5013	broad.mit.edu	37	2	63280157	63280157	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:63280157G>A	ENST00000282549.2	+	3	308	c.32G>A	c.(31-33)gGc>gAc	p.G11D	OTX1_ENST00000366671.3_Missense_Mutation_p.G11D	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	11					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCCCCATACGGCATGAACGGG	0.697																																						ENST00000366671.3		NA																	0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(31-33)gGc>gAc		orthodenticle homeobox 1							69.0	81.0	77.0					2																	63280157		2203	4299	6502	SO:0001583	missense	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63280157G>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.32G>A	2.37:g.63280157G>A	ENSP00000282549:p.Gly11Asp	False	False		Somatic	0				OTX1_ENST00000282549.2_Missense_Mutation_p.G11D	p.G11D	NM_001199770.1	NP_001186699.1	WXS	Illumina HiSeq	Phase_I	P32242	OTX1_HUMAN			3	308	+	Lung NSC(7;0.121)|all_lung(7;0.211)		11					A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	c.32G>A	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977675	0.74360	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.91011	-2.77;-2.77	5.5	5.5	0.81552	.	0.059634	0.64402	D	0.000003	D	0.93344	0.7878	L	0.56769	1.78	0.58432	D	0.999995	D	0.57257	0.979	P	0.58130	0.833	D	0.93676	0.6994	10	0.66056	D	0.02	.	18.1537	0.89684	0.0:0.0:1.0:0.0	.	11	P32242	OTX1_HUMAN	D	11	ENSP00000355631:G11D;ENSP00000282549:G11D	ENSP00000282549:G11D	G	+	2	0	OTX1	63133661	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.988000	0.63863	2.596000	0.87737	0.561000	0.74099	GGC		0.697	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1	0			2:63280157
TMPRSS11D	9407	broad.mit.edu	37	4	68688126	68688126	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:68688126G>A	ENST00000283916.6	-	10	1284	c.1186C>T	c.(1186-1188)Ccg>Tcg	p.P396S	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.P279S|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	396	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCTTATCCGGCAGGCCACAC	0.502																																						ENST00000283916.6		NA																	0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1186-1188)Ccg>Tcg		transmembrane protease, serine 11D							144.0	127.0	133.0					4																	68688126		2203	4300	6503	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68688126G>A	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.1186C>T	4.37:g.68688126G>A	ENSP00000283916:p.Pro396Ser	False	False		Somatic	0				RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.P279S	p.P396S	NM_004262.2	NP_004253.1	WXS	Illumina HiSeq	Phase_I	O60235	TM11D_HUMAN			10	1284	-			396			Peptidase S1.		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.1186C>T	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078916	0.36662	.	.	ENSG00000153802	ENST00000283916;ENST00000545541	D;D	0.88896	-2.44;-2.44	5.78	4.04	0.47022	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.119022	0.38217	N	0.001771	D	0.86049	0.5840	L	0.38733	1.17	0.09310	N	1	P	0.45078	0.85	P	0.44696	0.458	T	0.78797	-0.2063	10	0.59425	D	0.04	.	14.5301	0.67920	0.0:0.4672:0.5328:0.0	.	396	O60235	TM11D_HUMAN	S	396;279	ENSP00000283916:P396S;ENSP00000442045:P279S	ENSP00000283916:P396S	P	-	1	0	TMPRSS11D	68370721	0.004000	0.15560	0.806000	0.32338	0.005000	0.04900	0.481000	0.22260	0.756000	0.33013	0.650000	0.86243	CCG		0.502	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	0	NM_004262		4:68688126
TTN	7273	broad.mit.edu	37	2	179414500	179414500	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:179414500G>A	ENST00000591111.1	-	288	87250	c.87026C>T	c.(87025-87027)gCt>gTt	p.A29009V	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21777V|TTN_ENST00000342992.6_Missense_Mutation_p.A28082V|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21710V|TTN_ENST00000460472.2_Missense_Mutation_p.A21585V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A30650V|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29009	Fibronectin type-III 111. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTATGGGAGCACAACCGTC	0.448																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(91948-91950)gCt>gTt		titin							136.0	123.0	127.0					2																	179414500		1897	4115	6012	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414500G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87026C>T	2.37:g.179414500G>A	ENSP00000465570:p.Ala29009Val	False	False		Somatic	0				TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A29009V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21710V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28082V|TTN_ENST00000460472.2_Missense_Mutation_p.A21585V|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21777V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA	p.A30650V	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		338	92173	-			29009			Fibronectin type-III 123.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.91949C>T		.	.	.	.	.	.	.	.	.	.	G	25.6	4.660003	0.88154	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.32	5.32	0.75619	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68952	0.3057	M	0.81802	2.56	0.51482	D	0.999925	P;P;P;P	0.44380	0.581;0.581;0.581;0.834	B;B;B;P	0.50896	0.29;0.29;0.442;0.653	T	0.73652	-0.3915	9	0.87932	D	0	.	19.3786	0.94521	0.0:0.0:1.0:0.0	.	21585;21710;21777;29009	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	28082;21585;21777;21710;21582	ENSP00000343764:A28082V;ENSP00000434586:A21585V;ENSP00000340554:A21777V;ENSP00000352154:A21710V	ENSP00000340554:A21777V	A	-	2	0	TTN	179122746	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.813000	0.99286	2.648000	0.89879	0.563000	0.77884	GCT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179414500
ANK3	288	broad.mit.edu	37	10	61868601	61868601	+	Missense_Mutation	SNP	C	C	T	rs368218301		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr10:61868601C>T	ENST00000280772.2	-	27	3351	c.3160G>A	c.(3160-3162)Gca>Aca	p.A1054T	ANK3_ENST00000503366.1_Missense_Mutation_p.A1055T|ANK3_ENST00000355288.2_Missense_Mutation_p.A188T|ANK3_ENST00000373827.2_Missense_Mutation_p.A1048T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1054	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAAAATTGTGCCCCTGCAGGA	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		18456	0.0		0.0	False		,,,				2504	0.001					ENST00000280772.1		NA																	0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(3160-3162)Gca>Aca		ankyrin 3, node of Ranvier (ankyrin G)							61.0	65.0	64.0					10																	61868601		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61868601C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3160G>A	10.37:g.61868601C>T	ENSP00000280772:p.Ala1054Thr	True	False		Somatic	0				ANK3_ENST00000373827.2_Missense_Mutation_p.A1048T|ANK3_ENST00000355288.2_Missense_Mutation_p.A188T|ANK3_ENST00000503366.1_Missense_Mutation_p.A1055T	p.A1054T	NM_020987.3	NP_066267.2	WXS	Illumina HiSeq	Phase_I	Q12955	ANK3_HUMAN			27	3351	-			1054			ZU5.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.3160G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768023	0.90020	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	6.04	6.04	0.98038	ZU5 (3);	0.000000	0.41938	D	0.000798	T	0.58192	0.2105	L	0.39020	1.185	0.80722	D	1	P;D;D;D;D;B;D	0.89917	0.712;0.999;1.0;1.0;1.0;0.286;0.997	P;D;D;D;D;B;D	0.91635	0.592;0.999;0.999;0.996;0.983;0.194;0.957	T	0.51631	-0.8681	10	0.42905	T	0.14	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	1055;188;587;1048;1054;289;188	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	T	1054;1048;188;188;1055;1034;289;689;689;187;587;179	ENSP00000280772:A1054T;ENSP00000362933:A1048T;ENSP00000347436:A188T;ENSP00000425236:A1055T;ENSP00000362921:A179T	ENSP00000280772:A1054T	A	-	1	0	ANK3	61538607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GCA		0.453	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	0	NM_020987		10:61868601
EPB41	2035	broad.mit.edu	37	1	29365900	29365900	+	Missense_Mutation	SNP	G	G	A	rs372946232		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr1:29365900G>A	ENST00000343067.4	+	11	1725	c.1598G>A	c.(1597-1599)cGt>cAt	p.R533H	EPB41_ENST00000373800.3_Missense_Mutation_p.R324H|EPB41_ENST00000349460.4_Missense_Mutation_p.R324H|EPB41_ENST00000373798.1_Missense_Mutation_p.R533H|EPB41_ENST00000373797.1_Missense_Mutation_p.R533H|EPB41_ENST00000398863.2_Missense_Mutation_p.R533H|EPB41_ENST00000356093.2_Missense_Mutation_p.R533H|EPB41_ENST00000347529.3_Missense_Mutation_p.R498H	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	533	Hydrophilic.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CACTTCGAGCGTACAGCAAGT	0.463																																						ENST00000343067.4		NA																	0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(1597-1599)cGt>cAt		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	88.0	89.0	89.0		1598,1598,971,971,971,1493	4.8	1.0	1		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	EPB41	NM_001166005.1,NM_001166006.1,NM_001166007.1,NM_004437.3,NM_203342.2,NM_203343.2	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	533/865,533/721,324/602,324/589,324/642,498/776	29365900	1,13005	2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29365900G>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1598G>A	1.37:g.29365900G>A	ENSP00000345259:p.Arg533His	False	False		Somatic	0				EPB41_ENST00000398863.2_Missense_Mutation_p.R533H|EPB41_ENST00000373797.1_Missense_Mutation_p.R533H|EPB41_ENST00000373798.1_Missense_Mutation_p.R533H|EPB41_ENST00000373800.3_Missense_Mutation_p.R324H|EPB41_ENST00000356093.2_Missense_Mutation_p.R533H|EPB41_ENST00000349460.4_Missense_Mutation_p.R324H|EPB41_ENST00000347529.3_Missense_Mutation_p.R498H	p.R533H	NM_001166005.1	NP_001159477.1	WXS	Illumina HiSeq	Phase_I	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	11	1725	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	533			Hydrophilic.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.1598G>A	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271858	0.95429	0.0	1.16E-4	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07	5.69	4.77	0.60923	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.97958	0.9328	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.997;0.998;0.998;0.997;0.995;0.993	D	0.98254	1.0495	10	0.87932	D	0	.	14.1812	0.65577	0.0731:0.0:0.9269:0.0	.	427;533;533;533;533;533;550;498;324;324	E9PEX0;E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;.;41_HUMAN;.;.;.;.;.;.	H	550;533;533;533;427;533;324;324;498;533;533	ENSP00000345259:R533H;ENSP00000348397:R533H;ENSP00000381839:R533H;ENSP00000317597:R324H;ENSP00000362906:R324H;ENSP00000290100:R498H;ENSP00000362904:R533H;ENSP00000362903:R533H	ENSP00000345259:R533H	R	+	2	0	EPB41	29238487	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.013000	0.88655	2.687000	0.91594	0.650000	0.86243	CGT		0.463	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	0	NM_203342		1:29365900
CACNA1G	8913	broad.mit.edu	37	17	48650204	48650204	+	Missense_Mutation	SNP	G	G	A	rs542038781		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:48650204G>A	ENST00000359106.5	+	6	1036	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	CACNA1G_ENST00000510366.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000352832.5_Missense_Mutation_p.A346T|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A346T|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A346T	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	346					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCCTGGATCGCCATCTTCCA	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17055	0.0		0.0	False		,,,				2504	0.0					ENST00000352832.5		NA																	0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(1036-1038)Gcc>Acc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						59.0	64.0	63.0					17																	48650204		2027	4158	6185	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48650204G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1036G>A	17.37:g.48650204G>A	ENSP00000352011:p.Ala346Thr	False	False		Somatic	0				CACNA1G_ENST00000515765.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A346T|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A346T|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000359106.5_Missense_Mutation_p.A346T|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A346T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A346T|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A346T	p.A346T	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	WXS	Illumina HiSeq	Phase_I	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		6	1408	+	Breast(11;6.7e-17)		346					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.1036G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	35	5.424914	0.96131	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.82	5.82	0.92795	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97399	0.9149	L	0.31664	0.95	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.992;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.993;1.0;1.0;0.998;0.998;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;P;D	0.97110	0.997;0.999;1.0;0.998;1.0;0.999;0.998;1.0;0.998;0.947;1.0;0.999;1.0;1.0;0.998;0.998;0.958;0.999;1.0;0.996;0.861;1.0;0.994;0.961;0.906;0.929	D	0.98459	1.0595	10	0.87932	D	0	.	20.0852	0.97797	0.0:0.0:1.0:0.0	.	346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346;346	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	T	346	ENSP00000353990:A346T;ENSP00000339302:A346T;ENSP00000392390:A346T;ENSP00000347078:A346T;ENSP00000409759:A346T;ENSP00000425522:A346T;ENSP00000426261:A346T;ENSP00000425451:A346T;ENSP00000422407:A346T;ENSP00000426814:A346T;ENSP00000427238:A346T;ENSP00000423112:A346T;ENSP00000420918:A346T;ENSP00000426172:A346T;ENSP00000423045:A346T;ENSP00000427173:A346T;ENSP00000426098:A346T;ENSP00000425698:A346T;ENSP00000426232:A346T;ENSP00000423317:A346T;ENSP00000350979:A346T;ENSP00000352011:A346T;ENSP00000414388:A346T;ENSP00000423155:A346T;ENSP00000422268:A346T;ENSP00000421518:A346T	ENSP00000339302:A346T	A	+	1	0	CACNA1G	46005203	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.408000	0.97327	2.756000	0.94617	0.561000	0.74099	GCC		0.612	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	0	NM_018896		17:48650204
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs6416709	byFrequency	TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr16:71054178T>C	ENST00000393567.2	-	22	3379	c.3229A>G	c.(3229-3231)Ata>Gta	p.I1077V	HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1077			I -> V (in dbSNP:rs6416709).		cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.I1077V(3)|p.I1029V(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTTCTTTATGGCCAAGGGC	0.418													t|||	2	0.000399361	0.0	0.0029	5008	,	,		17320	0.0		0.0	False		,,,				2504	0.0					ENST00000393567.2		NA																	6	Substitution - Missense(6)	p.I1077V(3)|p.I1029V(3)	lung(2)|prostate(2)|endometrium(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(3229-3231)Ata>Gta		HYDIN, axonemal central pair apparatus protein							129.0	123.0	125.0					16																	71054178		1855	4094	5949	SO:0001583	missense	54768							g.chr16:71054178T>C	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3229A>G	16.37:g.71054178T>C	ENSP00000377197:p.Ile1077Val	False	False		Somatic	0				HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	p.I1077V	NM_001270974.1	NP_001257903.1	WXS	Illumina HiSeq	Phase_I	Q4G0P3	HYDIN_HUMAN			22	3379	-		Ovarian(137;0.0654)	1077		I -> V (in dbSNP:rs6416709).			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3229A>G	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	t	6.789	0.514533	0.12944	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.06371	3.31;3.31	4.61	0.358	0.16084	.	0.892413	0.09073	U	0.852581	T	0.06096	0.0158	L	0.58101	1.795	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.33059	-0.9883	10	0.18710	T	0.47	.	1.4303	0.02332	0.2901:0.0873:0.1652:0.4573	rs6416709;rs60865895	1077	F8WD23	.	V	1077;1077;1029	ENSP00000377197:I1077V;ENSP00000398544:I1029V	ENSP00000313052:I1077V	I	-	1	0	HYDIN	69611679	0.055000	0.20627	0.982000	0.44146	0.109000	0.19521	0.089000	0.15002	0.228000	0.21019	-0.676000	0.03789	ATA		0.418	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	0			16:71054178
TUBB8P7	197331	broad.mit.edu	37	16	90162304	90162304	+	RNA	SNP	A	A	G			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr16:90162304A>G	ENST00000564451.1	+	0	1657				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTGGCTCCCCAACAACGTAAA	0.502																																						ENST00000564451.1		NA																	0					NA																																														0							g.chr16:90162304A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162304A>G		True	False		Somatic	0				TUBB8P7_ENST00000567960.1_RNA				WXS	Illumina HiSeq	Phase_I					0	1657	+			NA						RNA	SNP	ENST00000564451.1	37																																																																																						0.502	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	0	NG_002334		16:90162304
CYP2F1	1572	broad.mit.edu	37	19	41626275	41626275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr19:41626275C>T	ENST00000331105.2	+	4	430	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	120					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|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)|oxygen binding (GO:0019825)	p.R120*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAGTGGGGATCGATGGAAGGT	0.562																																						ENST00000331105.2		NA																	1	Substitution - Nonsense(1)	p.R120*(1)	large_intestine(1)	central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(358-360)Cga>Tga		cytochrome P450, family 2, subfamily F, polypeptide 1							97.0	92.0	94.0					19																	41626275		2203	4300	6503	SO:0001587	stop_gained	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41626275C>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.358C>T	19.37:g.41626275C>T	ENSP00000333534:p.Arg120*	False	False		Somatic	0					p.R120*	NM_000774.3	NP_000765.2	WXS	Illumina HiSeq	Phase_I	P24903	CP2F1_HUMAN			4	430	+			120					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Nonsense_Mutation	SNP	ENST00000331105.2	37	c.358C>T	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158827	0.38119	.	.	ENSG00000197446	ENST00000331105	.	.	.	4.25	0.388	0.16264	.	0.214943	0.38058	U	0.001821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2291	0.03992	0.3239:0.2949:0.2842:0.0969	.	.	.	.	X	120	.	ENSP00000333534:R120X	R	+	1	2	CYP2F1	46318115	0.000000	0.05858	0.189000	0.23252	0.189000	0.23516	-0.842000	0.04354	0.413000	0.25759	-0.335000	0.08231	CGA		0.562	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2	0			19:41626275
DNAH2	146754	broad.mit.edu	37	17	7734509	7734509	+	Silent	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:7734509C>T	ENST00000572933.1	+	80	13796	c.12336C>T	c.(12334-12336)ggC>ggT	p.G4112G	DNAH2_ENST00000389173.2_Silent_p.G4112G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4112					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCCTTTGGCCAGCACCCCA	0.527																																						ENST00000572933.1		NA																	0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(12334-12336)ggC>ggT		dynein, axonemal, heavy chain 2							154.0	160.0	158.0					17																	7734509		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7734509C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12336C>T	17.37:g.7734509C>T		False	False		Somatic	0				DNAH2_ENST00000389173.2_Silent_p.G4112G	p.G4112G			WXS	Illumina HiSeq	Phase_I	Q9P225	DYH2_HUMAN			80	13796	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4112					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.12336C>T	CCDS32551.1																																																																																				0.527	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	0	NM_020877		17:7734509
AD000091.2	0	broad.mit.edu	37	19	15726525	15726525	+	lincRNA	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr19:15726525G>A	ENST00000589196.2	-	0	0				CYP4F8_ENST00000441682.2_RNA																							CTCCTGGCCCGCATCCTGGCC	0.672																																						ENST00000441682.2		NA																	0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							41.0	48.0	45.0					19																	15726525		2203	4300	6503			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15726525G>A																													19.37:g.15726525G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	P98187	CP4F8_HUMAN			0	162	+			NA						RNA	SNP	ENST00000589196.2	37			.	.	.	.	.	.	.	.	.	.	a	5.646	0.303823	0.10678	.	.	ENSG00000186526	ENST00000441682	.	.	.	2.32	-4.41	0.03590	.	1.206460	0.06022	N	0.651527	T	0.25269	0.0614	.	.	.	.	.	.	B;B	0.28350	0.208;0.014	B;B	0.16722	0.016;0.006	T	0.17228	-1.0376	7	0.38643	T	0.18	.	7.8147	0.29252	0.6658:0.0:0.3342:0.0	.	33;33	B4DU32;P98187	.;CP4F8_HUMAN	H	33	.	ENSP00000409702:R33H	R	+	2	0	CYP4F8	15587525	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.004000	0.12878	-0.985000	0.03503	-3.228000	0.00052	CGC		0.672	AD000091.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000460896.2	0			19:15726525
LAMP1	3916	broad.mit.edu	37	13	113964111	113964111	+	Missense_Mutation	SNP	G	G	A	rs374537669		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr13:113964111G>A	ENST00000332556.4	+	3	531	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	LAMP1_ENST00000397181.3_Missense_Mutation_p.V113I	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	113	First lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)	p.V113I(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACGTTACAGCGTCCAGCTCAT	0.438																																						ENST00000332556.4		NA																	1	Substitution - Missense(1)	p.V113I(1)	endometrium(1)	NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16						c.(337-339)Gtc>Atc		lysosomal-associated membrane protein 1		G	ILE/VAL	0,3914		0,0,1957	169.0	164.0	166.0		337	5.3	0.3	13		166	1,8291		0,1,4145	no	missense	LAMP1	NM_005561.3	29	0,1,6102	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	113/418	113964111	1,12205	1957	4146	6103	SO:0001583	missense	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113964111G>A	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.337G>A	13.37:g.113964111G>A	ENSP00000333298:p.Val113Ile	False	False		Somatic	0				LAMP1_ENST00000397181.3_Missense_Mutation_p.V113I	p.V113I	NM_005561.3	NP_005552.3	WXS	Illumina HiSeq	Phase_I	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		3	531	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	113			First lumenal domain.		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Missense_Mutation	SNP	ENST00000332556.4	37	c.337G>A	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831290	0.50845	0.0	1.21E-4	ENSG00000185896	ENST00000332556;ENST00000397181	T;T	0.35973	1.28;1.46	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	L	0.52573	1.65	0.31429	N	0.67331	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.54146	-0.8337	10	0.29301	T	0.29	-52.2082	14.4649	0.67477	0.0:0.0:1.0:0.0	.	113;113	B4DWL3;P11279	.;LAMP1_HUMAN	I	113	ENSP00000333298:V113I;ENSP00000415354:V113I	ENSP00000333298:V113I	V	+	1	0	LAMP1	113012112	0.991000	0.36638	0.335000	0.25508	0.087000	0.18053	4.848000	0.62874	2.473000	0.83533	0.557000	0.71058	GTC		0.438	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2	0			13:113964111
ALG1	56052	broad.mit.edu	37	16	5129756	5129756	+	Silent	SNP	A	A	G			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr16:5129756A>G	ENST00000262374.5	+	9	940	c.909A>G	c.(907-909)gaA>gaG	p.E303E	ALG1_ENST00000544428.1_Silent_p.E192E|ALG1_ENST00000588623.1_Silent_p.E192E	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	303					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)	p.E303E(3)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CAGAGTTTGAACAACTGACTC	0.443																																						ENST00000588623.1		NA																	3	Substitution - coding silent(3)	p.E303E(3)	lung(2)|urinary_tract(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(574-576)gaA>gaG		ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase							89.0	85.0	87.0					16																	5129756		2197	4300	6497	SO:0001819	synonymous_variant	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5129756A>G	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.909A>G	16.37:g.5129756A>G		False	False		Somatic	0				ALG1_ENST00000544428.1_Silent_p.E192E|ALG1_ENST00000262374.5_Silent_p.E303E	p.E192E			WXS	Illumina HiSeq	Phase_I	Q9BT22	ALG1_HUMAN			10	1676	+		Ovarian(90;0.0164)	303					B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	ENST00000262374.5	37	c.576A>G	CCDS10528.1																																																																																				0.443	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	0	NM_019109		16:5129756
PCNX	22990	broad.mit.edu	37	14	71429026	71429026	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr14:71429026C>T	ENST00000304743.2	+	3	892	c.446C>T	c.(445-447)gCc>gTc	p.A149V	PCNX_ENST00000439984.3_Missense_Mutation_p.A149V|PCNX_ENST00000238570.5_Missense_Mutation_p.A149V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	149						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AATTCTTATGCCGGTCTAGAT	0.478																																						ENST00000304743.2		NA																	0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(445-447)gCc>gTc		pecanex homolog (Drosophila)							161.0	159.0	160.0					14																	71429026		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71429026C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.446C>T	14.37:g.71429026C>T	ENSP00000304192:p.Ala149Val	False	False		Somatic	0				PCNX_ENST00000238570.5_Missense_Mutation_p.A149V|PCNX_ENST00000439984.3_Missense_Mutation_p.A149V	p.A149V	NM_014982.2	NP_055797.2	WXS	Illumina HiSeq	Phase_I	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	3	892	+			149					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.446C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320630	0.41096	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.42513	0.97;0.97;0.97	5.29	5.29	0.74685	.	0.213882	0.41001	D	0.000977	T	0.28333	0.0700	N	0.08118	0	0.43355	D	0.99542	P;P;B	0.40970	0.734;0.734;0.208	B;B;B	0.40165	0.321;0.321;0.047	T	0.08046	-1.0741	10	0.25751	T	0.34	.	19.2883	0.94087	0.0:1.0:0.0:0.0	.	149;149;149	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	V	149	ENSP00000304192:A149V;ENSP00000238570:A149V;ENSP00000396617:A149V	ENSP00000238570:A149V	A	+	2	0	PCNX	70498779	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	3.448000	0.52943	2.646000	0.89796	0.591000	0.81541	GCC		0.478	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	0	NM_014982		14:71429026
TNC	3371	broad.mit.edu	37	9	117783441	117783441	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr9:117783441C>T	ENST00000350763.4	-	28	7012	c.6601G>A	c.(6601-6603)Gca>Aca	p.A2201T	TNC_ENST00000346706.3_Missense_Mutation_p.A1655T|TNC_ENST00000535648.1_Missense_Mutation_p.A1746T|TNC_ENST00000537320.1_Missense_Mutation_p.A1564T|TNC_ENST00000341037.4_Missense_Mutation_p.A2019T|TNC_ENST00000423613.2_Missense_Mutation_p.A1928T|TNC_ENST00000542877.1_Missense_Mutation_p.A1838T|TNC_ENST00000340094.3_Missense_Mutation_p.A1837T|TNC_ENST00000345230.3_Missense_Mutation_p.A1564T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2201					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGAATTTATGCCCGTTTGCGC	0.502																																						ENST00000350763.4		NA																	0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(6601-6603)Gca>Aca		tenascin C							128.0	114.0	119.0					9																	117783441		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117783441C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6601G>A	9.37:g.117783441C>T	ENSP00000265131:p.Ala2201Thr	True	False		Somatic	0				TNC_ENST00000535648.1_Missense_Mutation_p.A1746T|TNC_ENST00000345230.3_Missense_Mutation_p.A1564T|TNC_ENST00000423613.2_Missense_Mutation_p.A1928T|TNC_ENST00000340094.3_Missense_Mutation_p.A1837T|TNC_ENST00000537320.1_Missense_Mutation_p.A1564T|TNC_ENST00000346706.3_Missense_Mutation_p.A1655T|TNC_ENST00000542877.1_Missense_Mutation_p.A1838T|TNC_ENST00000341037.4_Missense_Mutation_p.A2019T	p.A2201T	NM_002160.3	NP_002151.2	WXS	Illumina HiSeq	Phase_I	P24821	TENA_HUMAN			28	7012	-			2201					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.6601G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467852	0.84533	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.54071	0.62;0.64;0.87;0.87;0.64;0.73;0.63;0.87;0.59	5.29	4.38	0.52667	.	0.120458	0.64402	D	0.000018	T	0.49541	0.1563	N	0.11927	0.2	0.25781	N	0.984723	D;D	0.55605	0.972;0.972	P;P	0.57720	0.826;0.826	T	0.48636	-0.9018	10	0.32370	T	0.25	.	15.1678	0.72842	0.1423:0.8577:0.0:0.0	.	1928;2201	E9PC84;P24821	.;TENA_HUMAN	T	1837;1746;1655;1564;2201;2019;1928;1564;1838	ENSP00000344400:A1837T;ENSP00000438152:A1746T;ENSP00000344555:A1655T;ENSP00000345861:A1564T;ENSP00000265131:A2201T;ENSP00000339553:A2019T;ENSP00000411406:A1928T;ENSP00000443478:A1564T;ENSP00000442242:A1838T	ENSP00000344400:A1837T	A	-	1	0	TNC	116823262	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	4.814000	0.62627	1.205000	0.43262	0.655000	0.94253	GCA		0.502	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	0	NM_002160		9:117783441
TMEM106C	79022	broad.mit.edu	37	12	48359115	48359115	+	Missense_Mutation	SNP	C	C	T	rs146483924	byFrequency	TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:48359115C>T	ENST00000429772.2	+	3	351	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	TMEM106C_ENST00000256686.6_Missense_Mutation_p.R80C|TMEM106C_ENST00000552561.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000449758.2_Missense_Mutation_p.R80C|TMEM106C_ENST00000550552.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000549288.1_Intron	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	80						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R80C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TCAGAGATTGCGCCCTCAGCG	0.408																																						ENST00000429772.2		NA																	1	Substitution - Missense(1)	p.R80C(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14						c.(238-240)Cgc>Tgc		transmembrane protein 106C		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	137.0	119.0	125.0		238,238,238,238	4.4	1.0	12	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	TMEM106C	NM_001143841.1,NM_001143842.1,NM_001143843.1,NM_024056.3	180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	80/232,80/251,80/232,80/251	48359115	1,13005	2203	4300	6503	SO:0001583	missense	79022					endoplasmic reticulum membrane|integral to membrane		g.chr12:48359115C>T	BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.238C>T	12.37:g.48359115C>T	ENSP00000400471:p.Arg80Cys	False	False		Somatic	0				TMEM106C_ENST00000256686.6_Missense_Mutation_p.R80C|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000552561.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000550552.1_Missense_Mutation_p.R80C|TMEM106C_ENST00000449758.2_Missense_Mutation_p.R80C|TMEM106C_ENST00000549288.1_Intron	p.R80C	NM_001143842.1	NP_001137314.1	WXS	Illumina HiSeq	Phase_I	Q9BVX2	T106C_HUMAN		GBM - Glioblastoma multiforme(48;0.241)	3	351	+		Acute lymphoblastic leukemia(13;0.11)	80					B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	ENST00000429772.2	37	c.238C>T	CCDS8758.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928501	0.92389	0.0	1.16E-4	ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000550552;ENST00000429772;ENST00000449758	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	4.37	4.37	0.52481	.	0.156867	0.48767	D	0.000163	T	0.51975	0.1706	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.63597	0.916;0.862	T	0.55976	-0.8055	10	0.87932	D	0	0.1116	16.7328	0.85439	0.0:1.0:0.0:0.0	.	80;80	Q9BVX2;Q9BVX2-2	T106C_HUMAN;.	C	80	ENSP00000256686:R80C;ENSP00000446657:R80C;ENSP00000449737:R80C;ENSP00000400471:R80C;ENSP00000402705:R80C	ENSP00000256686:R80C	R	+	1	0	TMEM106C	46645382	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.039000	0.64185	2.727000	0.93392	0.655000	0.94253	CGC		0.408	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	0	NM_024056		12:48359115
RNF213	57674	broad.mit.edu	37	17	78343322	78343322	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:78343322C>T	ENST00000582970.1	+	45	12319	c.12176C>T	c.(12175-12177)gCc>gTc	p.A4059V	RNF213_ENST00000508628.2_Missense_Mutation_p.A4108V|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.A2132V|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4059					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAAAAGCATGCCCGCTTCCGG	0.498																																						ENST00000582970.1		NA																	0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(12175-12177)gCc>gTc		ring finger protein 213							116.0	115.0	115.0					17																	78343322		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78343322C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12176C>T	17.37:g.78343322C>T	ENSP00000464087:p.Ala4059Val	True	False		Somatic	0				RNF213_ENST00000336301.6_Missense_Mutation_p.A2132V|RNF213_ENST00000508628.2_Missense_Mutation_p.A4108V|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA	p.A4059V	NM_001256071.1	NP_001243000.1	WXS	Illumina HiSeq	Phase_I	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		45	12319	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.12176C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156124	0.57259	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25085	1.82	5.22	4.23	0.50019	Zinc finger, RING/FYVE/PHD-type (1);	0.223032	0.45606	D	0.000343	T	0.24736	0.0600	L	0.56280	1.765	0.30288	N	0.790668	P;B	0.52316	0.952;0.174	B;B	0.41440	0.357;0.114	T	0.28870	-1.0030	10	0.59425	D	0.04	.	11.096	0.48145	0.0:0.8528:0.0:0.1472	.	4108;2132	C9JCP4;Q63HN8	.;RN213_HUMAN	V	4059;4108;2132	ENSP00000338218:A2132V	ENSP00000338218:A2132V	A	+	2	0	RNF213	75957917	1.000000	0.71417	0.971000	0.41717	0.894000	0.52154	4.258000	0.58822	2.603000	0.88011	0.650000	0.86243	GCC		0.498	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	0	NM_020914		17:78343322
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1		NA																	6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)		NA																																														0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1111	+			NA						RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	0	NR_003369		16:29110438
PIK3C2A	5286	broad.mit.edu	37	11	17172170	17172170	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr11:17172170C>T	ENST00000265970.7	-	3	1201	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R21H|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	401					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.R401H(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TGGGTTTGTGCGGTGATTGGT	0.373																																						ENST00000265970.7		NA																	1	Substitution - Missense(1)	p.R401H(1)	lung(1)	central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1201-1203)cGc>cAc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						170.0	152.0	158.0					11																	17172170		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17172170C>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1202G>A	11.37:g.17172170C>T	ENSP00000265970:p.Arg401His	False	False		Somatic	0				PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R21H|PIK3C2A_ENST00000531428.1_5'UTR	p.R401H	NM_002645.2	NP_002636.2	WXS	Illumina HiSeq	Phase_I	O00443	P3C2A_HUMAN			3	1201	-			401					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.1202G>A	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	1.240	-0.621565	0.03636	.	.	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	T;T	0.42513	0.97;0.97	5.94	-2.21	0.06973	.	0.920435	0.09561	N	0.785613	T	0.15478	0.0373	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25293	-1.0136	10	0.20519	T	0.43	8.3831	4.7189	0.12909	0.2829:0.1989:0.0:0.5182	.	401;401	F5H5W9;O00443	.;P3C2A_HUMAN	H	401;21;401	ENSP00000265970:R401H;ENSP00000438687:R21H	ENSP00000265970:R401H	R	-	2	0	PIK3C2A	17128746	0.000000	0.05858	0.059000	0.19551	0.148000	0.21650	0.401000	0.20948	-0.065000	0.13021	-1.119000	0.02030	CGC		0.373	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	0	NM_002645		11:17172170
CLCN6	1185	broad.mit.edu	37	1	11883815	11883815	+	Missense_Mutation	SNP	G	G	A	rs199676414	byFrequency	TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr1:11883815G>A	ENST00000346436.6	+	7	557	c.505G>A	c.(505-507)Gta>Ata	p.V169I	CLCN6_ENST00000376487.3_Missense_Mutation_p.V147I|CLCN6_ENST00000376496.3_Missense_Mutation_p.V169I|CLCN6_ENST00000312413.6_Missense_Mutation_p.V169I|CLCN6_ENST00000376492.3_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	169					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGAATGGCGTAAAGGTGCC	0.552													G|||	2	0.000399361	0.0	0.0	5008	,	,		20245	0.002		0.0	False		,,,				2504	0.0					ENST00000346436.6		NA																	0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(505-507)Gta>Ata		chloride channel, voltage-sensitive 6							128.0	110.0	116.0					1																	11883815		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11883815G>A	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.505G>A	1.37:g.11883815G>A	ENSP00000234488:p.Val169Ile	False	False		Somatic	0				CLCN6_ENST00000376487.3_Missense_Mutation_p.V147I|CLCN6_ENST00000376496.3_Missense_Mutation_p.V169I|CLCN6_ENST00000312413.6_Missense_Mutation_p.V169I|CLCN6_ENST00000376492.3_3'UTR	p.V169I	NM_001286.3	NP_001277.1	WXS	Illumina HiSeq	Phase_I	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	7	557	+	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)	169					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.505G>A	CCDS138.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.13	3.555826	0.65425	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.97	5.97	0.96955	Chloride channel, core (2);	0.053524	0.85682	D	0.000000	D	0.89100	0.6619	N	0.25647	0.755	0.58432	D	0.99999	B;B;P;P;B	0.48503	0.105;0.442;0.911;0.823;0.128	B;B;B;B;B	0.36989	0.016;0.098;0.238;0.181;0.027	D	0.87899	0.2689	10	0.21014	T	0.42	-32.7531	17.5798	0.87963	0.0:0.0:1.0:0.0	.	147;169;169;169;169	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	I	169;169;147;169;169;169;169	ENSP00000308367:V169I;ENSP00000234488:V169I;ENSP00000365670:V147I;ENSP00000365679:V169I	ENSP00000308367:V169I	V	+	1	0	CLCN6	11806402	1.000000	0.71417	0.979000	0.43373	0.847000	0.48162	9.459000	0.97638	2.828000	0.97474	0.655000	0.94253	GTA		0.552	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	0	NM_001286		1:11883815
USH2A	7399	broad.mit.edu	37	1	216011345	216011345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr1:216011345C>T	ENST00000307340.3	-	47	9745	c.9359G>A	c.(9358-9360)gGc>gAc	p.G3120D	USH2A_ENST00000366943.2_Missense_Mutation_p.G3120D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3120	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAAGTGATGCCACGAATTGT	0.388										HNSCC(13;0.011)																												ENST00000366943.2		NA																	0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9358-9360)gGc>gAc		Usher syndrome 2A (autosomal recessive, mild)							226.0	203.0	210.0					1																	216011345		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216011345C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9359G>A	1.37:g.216011345C>T	ENSP00000305941:p.Gly3120Asp	False	False	HNSCC(13;0.011)	Somatic	0				USH2A_ENST00000307340.3_Missense_Mutation_p.G3120D	p.G3120D			WXS	Illumina HiSeq	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	47	9745	-			3120			Fibronectin type-III 18.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9359G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.254532	0.01457	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52983	0.64;0.64	5.01	-2.38	0.06622	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.448360	0.04862	N	0.444315	T	0.29190	0.0726	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16482	-1.0401	10	0.12103	T	0.63	.	7.0786	0.25219	0.1833:0.544:0.0:0.2727	.	3120	O75445	USH2A_HUMAN	D	3120	ENSP00000305941:G3120D;ENSP00000355910:G3120D	ENSP00000305941:G3120D	G	-	2	0	USH2A	214077968	0.000000	0.05858	0.006000	0.13384	0.043000	0.13939	0.059000	0.14322	-0.217000	0.10033	-0.302000	0.09304	GGC		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	0	NM_007123		1:216011345
TACC3	10460	broad.mit.edu	37	4	1725247	1725247	+	Silent	SNP	G	G	A	rs142473170		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr4:1725247G>A	ENST00000313288.4	+	2	205	c.99G>A	c.(97-99)tcG>tcA	p.S33S	TMEM129_ENST00000382936.3_5'Flank|TMEM129_ENST00000303277.2_5'Flank|TMEM129_ENST00000536901.1_5'Flank	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	33					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CCGGAAGATCGTCTGTTCTTC	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23238	0.0		0.0	False		,,,				2504	0.0				Ovarian(120;482 2294 11894 35824)	ENST00000313288.4		NA																	0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(97-99)tcG>tcA		transforming, acidic coiled-coil containing protein 3		G		3,4403	6.2+/-15.9	0,3,2200	71.0	68.0	69.0		99	-10.7	0.0	4	dbSNP_134	69	0,8596		0,0,4298	no	coding-synonymous	TACC3	NM_006342.1		0,3,6498	AA,AG,GG		0.0,0.0681,0.0231		33/839	1725247	3,12999	2203	4298	6501	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1725247G>A	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.99G>A	4.37:g.1725247G>A		False	False		Somatic	0					p.S33S	NM_006342.2	NP_006333.1	WXS	Illumina HiSeq	Phase_I	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		2	205	+		Breast(71;0.212)|all_epithelial(65;0.241)	33					Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.99G>A	CCDS3352.1																																																																																				0.448	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2	0			4:1725247
FASTKD2	22868	broad.mit.edu	37	2	207631976	207631976	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr2:207631976G>A	ENST00000236980.6	+	2	907	c.559G>A	c.(559-561)Gca>Aca	p.A187T	MDH1B_ENST00000449792.1_5'Flank|FASTKD2_ENST00000403094.3_Missense_Mutation_p.A187T|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A187T|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000392214.2_5'Flank|MDH1B_ENST00000374412.3_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	187					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CTATTTCACAGCAATGTGGAC	0.408																																						ENST00000236980.6		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(559-561)Gca>Aca		FAST kinase domains 2							120.0	119.0	119.0					2																	207631976		2203	4300	6503	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207631976G>A	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.559G>A	2.37:g.207631976G>A	ENSP00000236980:p.Ala187Thr	False	False		Somatic	0				FASTKD2_ENST00000403094.3_Missense_Mutation_p.A187T|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A187T	p.A187T	NM_014929.3	NP_055744.2	WXS	Illumina HiSeq	Phase_I	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	2	907	+			187					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.559G>A	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470894	0.63625	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.15372	2.43;2.43;2.43	5.31	3.49	0.39957	.	0.429898	0.24048	N	0.042038	T	0.28764	0.0713	L	0.54323	1.7	0.09310	N	1	D;B	0.76494	0.999;0.349	D;B	0.65140	0.932;0.056	T	0.03818	-1.1001	10	0.34782	T	0.22	-3.9259	7.217	0.25965	0.3732:0.0:0.6268:0.0	.	187;187	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	T	187	ENSP00000236980:A187T;ENSP00000385990:A187T;ENSP00000384929:A187T	ENSP00000236980:A187T	A	+	1	0	FASTKD2	207340221	0.008000	0.16893	1.000000	0.80357	0.996000	0.88848	0.848000	0.27710	1.230000	0.43646	0.561000	0.74099	GCA		0.408	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	0	NM_014929		2:207631976
FOXN1	8456	broad.mit.edu	37	17	26861380	26861380	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:26861380G>A	ENST00000226247.2	+	6	988	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	FOXN1_ENST00000579795.1_Missense_Mutation_p.R320Q	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	320					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R320Q(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AATTCTGTCCGGCACAACCTA	0.577																																						ENST00000226247.2		NA																	1	Substitution - Missense(1)	p.R320Q(1)	large_intestine(1)	endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(958-960)cGg>cAg		forkhead box N1							81.0	79.0	80.0					17																	26861380		2203	4300	6503	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26861380G>A	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.959G>A	17.37:g.26861380G>A	ENSP00000226247:p.Arg320Gln	False	False		Somatic	0				FOXN1_ENST00000579795.1_Missense_Mutation_p.R320Q	p.R320Q	NM_003593.2	NP_003584.2	WXS	Illumina HiSeq	Phase_I	O15353	FOXN1_HUMAN			6	988	+	Lung NSC(42;0.00431)		320					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.959G>A	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	G	36	5.679260	0.96774	.	.	ENSG00000109101	ENST00000226247	D	0.98060	-4.69	5.73	5.73	0.89815	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98166	1.0449	10	0.87932	D	0	.	19.8853	0.96910	0.0:0.0:1.0:0.0	.	320	O15353	FOXN1_HUMAN	Q	320	ENSP00000226247:R320Q	ENSP00000226247:R320Q	R	+	2	0	FOXN1	23885507	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.701000	0.92244	0.655000	0.94253	CGG		0.577	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1	0			17:26861380
NMT1	4836	broad.mit.edu	37	17	43181080	43181080	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr17:43181080G>A	ENST00000592782.1	+	11	1299	c.1168G>A	c.(1168-1170)Gca>Aca	p.A390T	NMT1_ENST00000258960.2_Missense_Mutation_p.A390T			P30419	NMT1_HUMAN	N-myristoyltransferase 1	390					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CCTTCAGAACGCAAACGGAGA	0.493																																						ENST00000592782.1		NA																	0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8						c.(1168-1170)Gca>Aca		N-myristoyltransferase 1							210.0	200.0	203.0					17																	43181080		2203	4300	6503	SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43181080G>A		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1168G>A	17.37:g.43181080G>A	ENSP00000468424:p.Ala390Thr	False	False		Somatic	0				NMT1_ENST00000258960.2_Missense_Mutation_p.A390T	p.A390T			WXS	Illumina HiSeq	Phase_I	P30419	NMT1_HUMAN			11	1299	+		Prostate(33;0.155)	390					A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	c.1168G>A	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	G	5.756	0.323942	0.10900	.	.	ENSG00000136448	ENST00000258960	T	0.43294	0.95	5.39	3.4	0.38934	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.336590	0.30732	N	0.008994	T	0.15955	0.0384	N	0.04043	-0.29	0.19300	N	0.99998	B;B	0.32350	0.366;0.002	B;B	0.24155	0.051;0.002	T	0.16158	-1.0412	10	0.20046	T	0.44	-6.1877	6.9389	0.24483	0.0644:0.1111:0.5929:0.2316	.	57;390	A4FU65;P30419	.;NMT1_HUMAN	T	390	ENSP00000258960:A390T	ENSP00000258960:A390T	A	+	1	0	NMT1	40536606	0.015000	0.18098	0.103000	0.21229	0.012000	0.07955	0.143000	0.16115	0.401000	0.25424	-0.808000	0.03180	GCA		0.493	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	0	NM_021079		17:43181080
GPR65	8477	broad.mit.edu	37	14	88477517	88477517	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr14:88477517C>T	ENST00000267549.3	+	2	884	c.326C>T	c.(325-327)gCc>gTc	p.A109V	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	109					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A109V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACCTGCATTGCCGTTGATCGG	0.428																																						ENST00000267549.3		NA																	1	Substitution - Missense(1)	p.A109V(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(325-327)gCc>gTc		G protein-coupled receptor 65							211.0	201.0	204.0					14																	88477517		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477517C>T	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.326C>T	14.37:g.88477517C>T	ENSP00000267549:p.Ala109Val	False	False		Somatic	0				RP11-300J18.2_ENST00000554433.1_RNA	p.A109V	NM_003608.3	NP_003599.2	WXS	Illumina HiSeq	Phase_I	Q8IYL9	PSYR_HUMAN			2	884	+			109					O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.326C>T	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300635	0.60195	.	.	ENSG00000140030	ENST00000267549	T	0.77620	-1.11	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.229512	0.30584	N	0.009304	D	0.85961	0.5819	M	0.76170	2.325	0.53688	D	0.999978	D	0.54601	0.967	P	0.54759	0.76	D	0.86921	0.2067	10	0.87932	D	0	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	109	Q8IYL9	PSYR_HUMAN	V	109	ENSP00000267549:A109V	ENSP00000267549:A109V	A	+	2	0	GPR65	87547270	0.039000	0.19947	0.086000	0.20670	0.281000	0.26958	3.193000	0.50997	2.751000	0.94390	0.650000	0.86243	GCC		0.428	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4	0			14:88477517
RILPL2	196383	broad.mit.edu	37	12	123900448	123900448	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr12:123900448T>C	ENST00000280571.8	-	4	922	c.626A>G	c.(625-627)aAa>aGa	p.K209R		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	209					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|primary cilium (GO:0072372)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CTAGGTCTGTTTCCCCGATCG	0.502																																						ENST00000280571.8		NA																	0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(625-627)aAa>aGa		Rab interacting lysosomal protein-like 2							292.0	280.0	284.0					12																	123900448		2203	4300	6503	SO:0001583	missense	196383					cytosol|plasma membrane	identical protein binding	g.chr12:123900448T>C	AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977			28787	protein-coding gene	gene with protein product		614093				14668488	Standard	NM_145058		Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.626A>G	12.37:g.123900448T>C	ENSP00000280571:p.Lys209Arg	True	False		Somatic	0					p.K209R	NM_145058.1	NP_659495.1	WXS	Illumina HiSeq	Phase_I	Q969X0	RIPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)	4	922	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		209						Missense_Mutation	SNP	ENST00000280571.8	37	c.626A>G	CCDS9248.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.935916	0.52972	.	.	ENSG00000150977	ENST00000280571	T	0.49432	0.78	3.63	3.63	0.41609	.	0.210369	0.37623	N	0.002018	T	0.40670	0.1126	L	0.27053	0.805	0.29966	N	0.818982	P	0.51057	0.941	P	0.49477	0.612	T	0.42085	-0.9472	10	0.87932	D	0	.	8.9555	0.35816	0.0:0.0:0.0:1.0	.	209	Q969X0	RIPL2_HUMAN	R	209	ENSP00000280571:K209R	ENSP00000280571:K209R	K	-	2	0	RILPL2	122466401	1.000000	0.71417	0.998000	0.56505	0.410000	0.31052	3.321000	0.51999	1.878000	0.54408	0.379000	0.24179	AAA		0.502	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_145058		12:123900448
SEC31B	25956	broad.mit.edu	37	10	102257434	102257434	+	Silent	SNP	G	G	A			TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr10:102257434G>A	ENST00000370345.3	-	16	2077	c.1980C>T	c.(1978-1980)ccC>ccT	p.P660P	SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	660					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)		p.P660P(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CACAGAGCTCGGGAAATTTCT	0.512																																						ENST00000370345.3		NA																	1	Substitution - coding silent(1)	p.P660P(1)	kidney(1)	NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1978-1980)ccC>ccT		SEC31 homolog B (S. cerevisiae)							143.0	116.0	125.0					10																	102257434		2203	4300	6503	SO:0001819	synonymous_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102257434G>A	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1980C>T	10.37:g.102257434G>A		True	False		Somatic	0					p.P660P	NM_015490.3	NP_056305.1	WXS	Illumina HiSeq	Phase_I	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	16	2077	-		Colorectal(252;0.117)	660					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	c.1980C>T	CCDS7495.1																																																																																				0.512	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	0	NM_015490		10:102257434
BRCA2	675	broad.mit.edu	37	13	32937431	32937431	+	Missense_Mutation	SNP	G	G	A	rs80359052		TCGA-IB-AAUT-01A-11D-A377-08	TCGA-IB-AAUT-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	e4f69f09-6081-4cf0-9505-2b8a18162658	46c83261-269c-4c59-8c9f-fb7b2d32312d	g.chr13:32937431G>A	ENST00000380152.3	+	18	8325	c.8092G>A	c.(8092-8094)Gca>Aca	p.A2698T	BRCA2_ENST00000544455.1_Missense_Mutation_p.A2698T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2698					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.S2697fs*31(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCATTGAGCGCAAATATATC	0.378			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			G|||	0	0.0	0.0	0.0	5008	,	,		17595	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		1	Deletion - Frameshift(1)	p.S2697fs*31(1)	ovary(1)	NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(8092-8094)Gca>Aca	Homologous recombination	breast cancer 2, early onset							102.0	100.0	101.0					13																	32937431		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32937431G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8092G>A	13.37:g.32937431G>A	ENSP00000369497:p.Ala2698Thr	False	False	TCGA Ovarian(8;0.087)	Somatic	0				BRCA2_ENST00000380152.3_Missense_Mutation_p.A2698T	p.A2698T	NM_000059.3	NP_000050.2	WXS	Illumina HiSeq	Phase_I	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	18	8319	+		Lung SC(185;0.0262)	2698					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8092G>A	CCDS9344.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.016	-1.538764	0.00942	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.79845	-1.31;-1.31	5.38	2.97	0.34412	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 1 (1);	0.318221	0.34932	N	0.003566	T	0.41119	0.1145	N	0.00483	-1.445	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.47935	-0.9078	10	0.02654	T	1	.	5.0883	0.14694	0.7144:0.0:0.1519:0.1337	.	2698	P51587	BRCA2_HUMAN	T	2698	ENSP00000369497:A2698T;ENSP00000439902:A2698T	ENSP00000369497:A2698T	A	+	1	0	BRCA2	31835431	0.000000	0.05858	0.006000	0.13384	0.360000	0.29518	-0.074000	0.11450	0.368000	0.24481	-0.373000	0.07131	GCA		0.378	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	0	NM_000059		13:32937431
