#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
EDAR	10913	broad.mit.edu	37	2	109545753	109545753	+	Missense_Mutation	SNP	A	A	G			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr2:109545753A>G	ENST00000258443.2	-	4	687	c.257T>C	c.(256-258)aTa>aCa	p.I86T	EDAR_ENST00000376651.1_Missense_Mutation_p.I86T|EDAR_ENST00000409271.1_Missense_Mutation_p.I86T	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	86					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACGCCTGCATATCTGGTAGCC	0.607																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(256-258)aTa>aCa		ectodysplasin A receptor							88.0	79.0	82.0					2																	109545753		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109545753A>G	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.257T>C	2.37:g.109545753A>G	ENSP00000258443:p.Ile86Thr					EDAR_ENST00000376651.1_Missense_Mutation_p.I86T|EDAR_ENST00000258443.2_Missense_Mutation_p.I86T	p.I86T			Q9UNE0	EDAR_HUMAN			5	700	-			86					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.257T>C	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.724905	0.68959	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.90324	-2.63;-2.65;-2.63	5.25	5.25	0.73442	.	0.150821	0.56097	D	0.000027	D	0.92397	0.7587	L	0.41415	1.275	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.78314	0.991;0.977	D	0.91001	0.4842	10	0.27785	T	0.31	-25.4706	15.1586	0.72764	1.0:0.0:0.0:0.0	.	86;86	E9PC98;Q9UNE0	.;EDAR_HUMAN	T	86	ENSP00000386371:I86T;ENSP00000258443:I86T;ENSP00000365839:I86T	ENSP00000258443:I86T	I	-	2	0	EDAR	108912185	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.850000	0.92190	1.980000	0.57719	0.379000	0.24179	ATA		0.607	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			3	31	0	0	0	1	0	3	31				
PRG4	10216	broad.mit.edu	37	1	186276565	186276565	+	Missense_Mutation	SNP	A	A	G	rs558640103	byFrequency	TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr1:186276565A>G	ENST00000445192.2	+	7	1759	c.1714A>G	c.(1714-1716)Acc>Gcc	p.T572A	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367483.4_Missense_Mutation_p.T531A|PRG4_ENST00000367486.3_Missense_Mutation_p.T529A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	572	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T572A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGCACCCACCACCCCCAAGAA	0.642													-|||	2	0.000399361	0.0008	0.0	5008	,	,		7951	0.0		0.001	False		,,,				2504	0.0					ENST00000445192.2																			1	Substitution - Missense(1)	p.T572A(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1714-1716)Acc>Gcc		proteoglycan 4							99.0	99.0	99.0					1																	186276565		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276565A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1714A>G	1.37:g.186276565A>G	ENSP00000399679:p.Thr572Ala					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T529A|PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367483.4_Missense_Mutation_p.T531A	p.T572A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1759	+			572			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1714A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	a	6.012	0.370698	0.11409	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05513	3.43;3.54;3.44;3.54	3.96	1.21	0.21127	.	.	.	.	.	T	0.06096	0.0158	L	0.49126	1.545	0.09310	N	1	B;B;B;B	0.18013	0.025;0.025;0.015;0.025	B;B;B;B	0.19666	0.026;0.026;0.011;0.026	T	0.42292	-0.9460	8	.	.	.	.	3.8704	0.09035	0.6441:0.2029:0.1531:0.0	.	438;479;572;531	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	529;438;531;479;572	ENSP00000356456:T529A;ENSP00000356453:T531A;ENSP00000356455:T479A;ENSP00000399679:T572A	.	T	+	1	0	PRG4	184543188	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.247000	0.18179	0.012000	0.14892	-0.559000	0.04183	ACC		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		3	41	0	0	0	1	0	3	41				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	14	0	0	0	1	0	3	14				
MYO5A	4644	broad.mit.edu	37	15	52646099	52646099	+	Missense_Mutation	SNP	T	T	G			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr15:52646099T>G	ENST00000399231.3	-	26	3779	c.3536A>C	c.(3535-3537)aAg>aCg	p.K1179T	MYO5A_ENST00000358212.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000356338.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000399233.2_Missense_Mutation_p.K1179T|MYO5A_ENST00000553916.1_Missense_Mutation_p.K1179T	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1179					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTGCTCCTCCTTGCGGTCCAG	0.562																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(3535-3537)aAg>aCg		myosin VA (heavy chain 12, myoxin)							110.0	117.0	114.0					15																	52646099		2102	4221	6323	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52646099T>G		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3536A>C	15.37:g.52646099T>G	ENSP00000382177:p.Lys1179Thr					MYO5A_ENST00000356338.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000358212.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000399233.2_Missense_Mutation_p.K1179T|MYO5A_ENST00000553916.1_Missense_Mutation_p.K1179T	p.K1179T	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	26	3779	-			1179					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.3536A>C	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.200721	0.58126	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	6.07	1.29	0.21616	.	0.142257	0.64402	D	0.000006	T	0.14960	0.0361	L	0.27053	0.805	0.48341	D	0.999636	P;P	0.46142	0.57;0.873	B;P	0.46076	0.104;0.503	T	0.08889	-1.0700	10	0.13470	T	0.59	.	9.66	0.39950	0.0:0.2493:0.0:0.7507	.	1179;1179	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	T	1179;713;1179;1179;1179;809;1179	ENSP00000382177:K1179T;ENSP00000382179:K1179T;ENSP00000348693:K1179T;ENSP00000350945:K1179T;ENSP00000451109:K1179T	ENSP00000348693:K1179T	K	-	2	0	MYO5A	50433391	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	3.062000	0.49971	-0.027000	0.13873	0.533000	0.62120	AAG		0.562	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		9	75	0	0	0	1	0	9	75				
SVOP	55530	broad.mit.edu	37	12	109332604	109332604	+	Splice_Site	SNP	T	T	C			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr12:109332604T>C	ENST00000299134.5	-	7	699	c.700A>G	c.(700-702)Agg>Ggg	p.R234G		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						GGCACTGACCTGTCTGGAGAT	0.542																																						ENST00000299134.5																			0				breast(2)|lung(4)	6						c.e7+1		SV2 related protein homolog (rat)							340.0	346.0	344.0					12																	109332604		2139	4243	6382	SO:0001630	splice_region_variant	55530					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	g.chr12:109332604T>C	BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.701+1A>G	12.37:g.109332604T>C							p.R234_splice	NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN			7	699	-			0					Q9NPW5	Splice_Site	SNP	ENST00000299134.5	37	c.701_splice		.	.	.	.	.	.	.	.	.	.	T	16.29	3.082787	0.55861	.	.	ENSG00000166111	ENST00000299134	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	T	0.60792	0.2296	L	0.47716	1.5	.	.	.	.	.	.	.	.	.	T	0.67333	-0.5697	4	.	.	.	-20.671	13.6427	0.62260	0.0:0.0:0.0:1.0	.	.	.	.	G	234	.	.	R	-	1	2	SVOP	107856733	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.181000	0.77682	2.103000	0.63969	0.533000	0.62120	AGG		0.542	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	NM_018711	Missense_Mutation	5	194	0	0	0	1	0	5	194				
ARNT	405	broad.mit.edu	37	1	150812108	150812108	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr1:150812108G>A	ENST00000358595.5	-	6	495	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	ARNT_ENST00000515192.1_Missense_Mutation_p.R90W|ARNT_ENST00000505755.1_Missense_Mutation_p.R84W|ARNT_ENST00000354396.2_Missense_Mutation_p.R99W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	99	Poly-Arg.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGTCGCCGCCGTTCAATTTCA	0.493			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(295-297)Cgg>Tgg		aryl hydrocarbon receptor nuclear translocator							117.0	107.0	110.0					1																	150812108		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150812108G>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.295C>T	1.37:g.150812108G>A	ENSP00000351407:p.Arg99Trp					ARNT_ENST00000354396.2_Missense_Mutation_p.R99W|ARNT_ENST00000515192.1_Missense_Mutation_p.R90W|ARNT_ENST00000505755.1_Missense_Mutation_p.R84W	p.R99W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	495	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		99			Poly-Arg.		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.295C>T	CCDS970.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820176	0.90873	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41	6.17	5.24	0.73138	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	M	0.91872	3.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.998;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.976;0.923;0.944;0.982;0.982;0.954;1.0	D	0.98444	1.0588	10	0.87932	D	0	.	16.4222	0.83766	0.0:0.0:0.8585:0.1415	.	83;99;84;99;90;84;99	B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;.;ARNT_HUMAN	W	99;99;99;90;83;84	ENSP00000351407:R99W;ENSP00000346372:R99W;ENSP00000423851:R90W;ENSP00000427571:R84W	ENSP00000346372:R99W	R	-	1	2	ARNT	149078732	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.078000	0.50096	1.555000	0.49500	0.655000	0.94253	CGG		0.493	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			3	10	0	0	0	1	0	3	10				
FN1	2335	broad.mit.edu	37	2	216273109	216273109	+	Silent	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr2:216273109C>T	ENST00000359671.1	-	16	2605	c.2340G>A	c.(2338-2340)ctG>ctA	p.L780L	FN1_ENST00000421182.1_Silent_p.L780L|FN1_ENST00000345488.5_Silent_p.L780L|FN1_ENST00000357867.4_Silent_p.L780L|FN1_ENST00000446046.1_Silent_p.L780L|FN1_ENST00000354785.4_Silent_p.L780L|FN1_ENST00000323926.6_Silent_p.L780L|FN1_ENST00000336916.4_Silent_p.L780L|FN1_ENST00000432072.2_Silent_p.L780L|FN1_ENST00000346544.3_Silent_p.L780L|FN1_ENST00000357009.2_Silent_p.L780L|FN1_ENST00000356005.4_Silent_p.L780L|FN1_ENST00000443816.1_Silent_p.L780L			P02751	FINC_HUMAN	fibronectin 1	780	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGCCAGGAAGCAGGTCAGGGA	0.423																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(2338-2340)ctG>ctA		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						91.0	86.0	88.0					2																	216273109		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216273109C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2340G>A	2.37:g.216273109C>T						FN1_ENST00000346544.3_Silent_p.L780L|FN1_ENST00000443816.1_Silent_p.L780L|FN1_ENST00000359671.1_Silent_p.L780L|FN1_ENST00000432072.2_Silent_p.L780L|FN1_ENST00000357867.4_Silent_p.L780L|FN1_ENST00000421182.1_Silent_p.L780L|FN1_ENST00000357009.2_Silent_p.L780L|FN1_ENST00000356005.4_Silent_p.L780L|FN1_ENST00000323926.6_Silent_p.L780L|FN1_ENST00000345488.5_Silent_p.L780L|FN1_ENST00000336916.4_Silent_p.L780L|FN1_ENST00000446046.1_Silent_p.L780L	p.L780L			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	16	2709	-		Renal(323;0.127)	780			Fibronectin type-III 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.2340G>A																																																																																					0.423	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		13	36	0	0	0	1	0	13	36				
MAGED1	9500	broad.mit.edu	37	X	51637809	51637809	+	Intron	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chrX:51637809C>T	ENST00000375722.1	+	3	297				MAGED1_ENST00000375695.2_Silent_p.C44C|MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000375772.3_Intron			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.C44C(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCACTCTGTGCGACCCCCCTT	0.602										Multiple Myeloma(10;0.10)																												ENST00000375695.2																			1	Substitution - coding silent(1)	p.C44C(1)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(130-132)tgC>tgT		melanoma antigen family D, 1							72.0	62.0	66.0					X																	51637809		2203	4300	6503	SO:0001627	intron_variant	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51637809C>T	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.46-340C>T	X.37:g.51637809C>T		Multiple Myeloma(10;0.10)				MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000375722.1_Intron|MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000326587.7_Intron	p.C44C	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			3	285	+	Ovarian(276;0.236)		0					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	c.132C>T	CCDS14337.1																																																																																				0.602	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		5	10	0	0	0	1	0	5	10				
NAA30	122830	broad.mit.edu	37	14	57858352	57858352	+	Missense_Mutation	SNP	A	A	G			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr14:57858352A>G	ENST00000556492.1	+	2	831	c.677A>G	c.(676-678)gAt>gGt	p.D226G	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	226	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						CAAATGCCCGATATCATGAGA	0.488																																						ENST00000556492.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						c.(676-678)gAt>gGt		N(alpha)-acetyltransferase 30, NatC catalytic subunit							164.0	185.0	178.0					14																	57858352		2203	4300	6503	SO:0001583	missense	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57858352A>G	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.677A>G	14.37:g.57858352A>G	ENSP00000452521:p.Asp226Gly					NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	p.D226G	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN			2	831	+			226			N-acetyltransferase.		Q0IIN2	Missense_Mutation	SNP	ENST00000556492.1	37	c.677A>G	CCDS32088.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077055	0.36662	.	.	ENSG00000139977	ENST00000556492;ENST00000395257	T	0.68181	-0.31	4.47	4.47	0.54385	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.146714	0.50627	D	0.000104	T	0.63046	0.2478	L	0.59436	1.845	0.80722	D	1	B	0.22909	0.077	B	0.24269	0.052	T	0.62388	-0.6865	10	0.40728	T	0.16	-10.9665	13.9309	0.63994	1.0:0.0:0.0:0.0	.	226	Q147X3	NAA30_HUMAN	G	226;189	ENSP00000452521:D226G	ENSP00000298406:D226G	D	+	2	0	NAA30	56928105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.719000	0.74718	1.872000	0.54250	0.533000	0.62120	GAT		0.488	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		5	169	0	0	0	1	0	5	169				
OR8J3	81168	broad.mit.edu	37	11	55905035	55905035	+	Missense_Mutation	SNP	G	G	C			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr11:55905035G>C	ENST00000301529.1	-	1	159	c.160C>G	c.(160-162)Cga>Gga	p.R54G		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TTTTGAAGTCGAGAGTCAACA	0.473																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(160-162)Cga>Gga		olfactory receptor, family 8, subfamily J, member 3							147.0	142.0	144.0					11																	55905035		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55905035G>C		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.160C>G	11.37:g.55905035G>C	ENSP00000301529:p.Arg54Gly						p.R54G	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	159	-	Esophageal squamous(21;0.00693)		54					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.160C>G	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	6.013	0.370736	0.11409	.	.	ENSG00000167822	ENST00000301529	T	0.01133	5.29	3.26	-2.42	0.06542	GPCR, rhodopsin-like superfamily (1);	0.400945	0.21579	N	0.072267	T	0.01454	0.0047	M	0.71581	2.175	0.09310	N	1	B	0.15719	0.014	B	0.21151	0.033	T	0.42481	-0.9449	10	0.66056	D	0.02	.	3.1093	0.06352	0.0914:0.1358:0.3078:0.4649	.	54	Q8NGG0	OR8J3_HUMAN	G	54	ENSP00000301529:R54G	ENSP00000301529:R54G	R	-	1	2	OR8J3	55661611	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-0.264000	0.08658	-0.333000	0.08476	0.289000	0.19496	CGA		0.473	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		5	71	0	0	0	1	0	5	71				
PTPN3	5774	broad.mit.edu	37	9	112185070	112185070	+	Missense_Mutation	SNP	C	C	A			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr9:112185070C>A	ENST00000374541.2	-	13	1168	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L	PTPN3_ENST00000412145.1_Missense_Mutation_p.R224L|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000262539.3_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	355					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TAAGGATCTCCGCATGGCTGG	0.453																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(670-672)cGg>cTg		protein tyrosine phosphatase, non-receptor type 3							208.0	193.0	198.0					9																	112185070		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112185070C>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1064G>T	9.37:g.112185070C>A	ENSP00000363667:p.Arg355Leu					PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Missense_Mutation_p.R355L	p.R224L	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			8	3224	-			355			FERM.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.671G>T	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453896	0.63290	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000374541	T;T	0.61392	0.11;0.11	5.55	3.6	0.41247	.	0.156133	0.52532	D	0.000063	T	0.63438	0.2511	L	0.52573	1.65	0.80722	D	1	D	0.58268	0.982	P	0.56916	0.809	T	0.65780	-0.6085	10	0.62326	D	0.03	.	11.218	0.48838	0.0:0.8457:0.0:0.1543	.	355	P26045	PTN3_HUMAN	L	355;224;355	ENSP00000416654:R224L;ENSP00000363667:R355L	ENSP00000363667:R355L	R	-	2	0	PTPN3	111224891	0.921000	0.31238	1.000000	0.80357	0.996000	0.88848	1.011000	0.29911	1.249000	0.43950	0.650000	0.86243	CGG		0.453	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			4	104	1	0	0.00909568	1	0.00940932	4	104				
JAM3	83700	broad.mit.edu	37	11	134014247	134014247	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr11:134014247G>A	ENST00000299106.4	+	4	527	c.368G>A	c.(367-369)cGc>cAc	p.R123H	JAM3_ENST00000441717.3_Intron|JAM3_ENST00000529443.2_Missense_Mutation_p.R168H|JAM3_ENST00000524969.1_3'UTR			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	123	Ig-like V-type.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CGAAATGACCGCAAGGAAATT	0.488																																						ENST00000299106.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10						c.(367-369)cGc>cAc		junctional adhesion molecule 3							184.0	150.0	162.0					11																	134014247		2201	4297	6498	SO:0001583	missense	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134014247G>A	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.368G>A	11.37:g.134014247G>A	ENSP00000299106:p.Arg123His					JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Intron|JAM3_ENST00000529443.2_Missense_Mutation_p.R168H	p.R123H			Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	4	527	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	123			Ig-like V-type.		B3KWG9|Q8WWL8|Q96FL1	Missense_Mutation	SNP	ENST00000299106.4	37	c.368G>A	CCDS8494.2	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246259	0.39697	.	.	ENSG00000166086	ENST00000299106	T	0.12672	2.66	5.03	0.443	0.16587	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.575467	0.18973	N	0.126091	T	0.05686	0.0149	N	0.12471	0.22	0.27938	N	0.937632	B	0.12630	0.006	B	0.12156	0.007	T	0.24977	-1.0145	10	0.42905	T	0.14	.	1.7526	0.02975	0.2621:0.1914:0.4165:0.1301	.	123	Q9BX67	JAM3_HUMAN	H	168	ENSP00000299106:R168H	ENSP00000299106:R168H	R	+	2	0	JAM3	133519457	0.023000	0.18921	0.996000	0.52242	0.921000	0.55340	0.664000	0.25068	0.141000	0.18875	0.561000	0.74099	CGC		0.488	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		3	53	0	0	0	1	0	3	53				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			3	78	0	0	0	1	0	3	78				
PTPN3	5774	broad.mit.edu	37	9	112185069	112185069	+	Silent	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr9:112185069C>T	ENST00000374541.2	-	13	1169	c.1065G>A	c.(1063-1065)cgG>cgA	p.R355R	PTPN3_ENST00000412145.1_Silent_p.R224R|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000262539.3_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	355					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATAAGGATCTCCGCATGGCTG	0.453																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(670-672)cgG>cgA		protein tyrosine phosphatase, non-receptor type 3							209.0	194.0	199.0					9																	112185069		2203	4300	6503	SO:0001819	synonymous_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112185069C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1065G>A	9.37:g.112185069C>T						PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Silent_p.R355R	p.R224R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			8	3225	-			355			FERM.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.672G>A	CCDS6776.1																																																																																				0.453	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			4	107	0	0	0	1	0	4	107				
INPP5D	3635	broad.mit.edu	37	2	234102471	234102471	+	Silent	SNP	T	T	C			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr2:234102471T>C	ENST00000359570.5	+	25	2424	c.2424T>C	c.(2422-2424)atT>atC	p.I808I	INPP5D_ENST00000455936.2_Silent_p.I572I|INPP5D_ENST00000450745.1_Silent_p.I572I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	820					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGGGCTGCATTGCCCTTCGGT	0.582																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(2422-2424)atT>atC		inositol polyphosphate-5-phosphatase, 145kDa							94.0	94.0	94.0					2																	234102471		2029	4186	6215	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234102471T>C	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2424T>C	2.37:g.234102471T>C						INPP5D_ENST00000455936.2_Silent_p.I572I|INPP5D_ENST00000450745.1_Silent_p.I572I	p.I808I			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	25	2424	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	820					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.2424T>C																																																																																					0.582	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		24	53	0	0	0	1	0	24	53				
STAB2	55576	broad.mit.edu	37	12	104140440	104140440	+	Missense_Mutation	SNP	G	G	C			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr12:104140440G>C	ENST00000388887.2	+	58	6406	c.6202G>C	c.(6202-6204)Gag>Cag	p.E2068Q	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAACACGTGTGAGTGTAACCT	0.502																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6202-6204)Gag>Cag		stabilin 2							343.0	273.0	297.0					12																	104140440		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104140440G>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6202G>C	12.37:g.104140440G>C	ENSP00000373539:p.Glu2068Gln					RP11-341G23.4_ENST00000551299.1_RNA	p.E2068Q	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			58	6406	+			2068			EGF-like 15.			Missense_Mutation	SNP	ENST00000388887.2	37	c.6202G>C	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612768	0.46631	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	T	0.35421	1.31	5.43	5.43	0.79202	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.496401	0.20453	N	0.092056	T	0.29158	0.0725	L	0.35644	1.08	0.26123	N	0.980524	B	0.22746	0.074	B	0.19666	0.026	T	0.10683	-1.0619	10	0.21014	T	0.42	.	13.8289	0.63368	0.0:0.2781:0.7219:0.0	.	2068	Q8WWQ8	STAB2_HUMAN	Q	2068;755	ENSP00000373539:E2068Q	ENSP00000258495:E755Q	E	+	1	0	STAB2	102664570	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.556000	0.60775	2.545000	0.85829	0.462000	0.41574	GAG		0.502	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			33	150	0	0	0	1	0	33	150				
ADAMTS8	11095	broad.mit.edu	37	11	130278724	130278724	+	Missense_Mutation	SNP	T	T	C			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr11:130278724T>C	ENST00000257359.6	-	7	2568	c.1862A>G	c.(1861-1863)gAc>gGc	p.D621G		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	621	Cys-rich.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTTGCAGCGGTCCCGGGGGGA	0.577																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1861-1863)gAc>gGc		ADAM metallopeptidase with thrombospondin type 1 motif, 8							93.0	94.0	94.0					11																	130278724		1887	4119	6006	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130278724T>C	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1862A>G	11.37:g.130278724T>C	ENSP00000257359:p.Asp621Gly						p.D621G	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	7	2568	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	621			Cys-rich.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1862A>G	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.952600	0.92660	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.68025	-0.3	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.83529	0.5274	M	0.85041	2.73	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.986;0.999	D	0.86342	0.1705	10	0.72032	D	0.01	.	15.8307	0.78749	0.0:0.0:0.0:1.0	.	621;102	Q9UP79;B3KVX9	ATS8_HUMAN;.	G	19;621;650	ENSP00000257359:D621G	ENSP00000257359:D621G	D	-	2	0	ADAMTS8	129783934	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.622000	0.83099	2.202000	0.70862	0.533000	0.62120	GAC		0.577	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		23	87	0	0	0	1	0	23	87				
CSMD2	114784	broad.mit.edu	37	1	34090179	34090179	+	Silent	SNP	C	C	T	rs548355797		TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr1:34090179C>T	ENST00000373380.1	-	14	2404	c.2184G>A	c.(2182-2184)ccG>ccA	p.P728P	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.P1855P|CSMD2_ENST00000373377.1_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1815	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTTGAGGTACGGCTCTGGGA	0.662													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19481	0.0		0.0	False		,,,				2504	0.0					ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(5563-5565)ccG>ccA		CUB and Sushi multiple domains 2							125.0	102.0	110.0					1																	34090179		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34090179C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2184G>A	1.37:g.34090179C>T						CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.P728P|CSMD2_ENST00000373377.1_5'UTR	p.P1855P	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			35	5741	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1815			CUB 11.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.5565G>A																																																																																					0.662	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		3	45	0	0	0	1	0	3	45				
HLX	3142	broad.mit.edu	37	1	221053618	221053618	+	Missense_Mutation	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr1:221053618C>T	ENST00000366903.6	+	1	1920	c.419C>T	c.(418-420)cCt>cTt	p.P140L	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_5'Flank	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	140	Pro-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		cagcCTCCGCCTCCGCCCCGG	0.711																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(418-420)cCt>cTt		H2.0-like homeobox							14.0	21.0	18.0					1																	221053618		2190	4273	6463	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221053618C>T	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.419C>T	1.37:g.221053618C>T	ENSP00000355870:p.Pro140Leu						p.P140L	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	1	1920	+			140			Pro-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.419C>T	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045138	0.36085	.	.	ENSG00000136630	ENST00000366903	T	0.29655	1.56	4.77	3.86	0.44501	.	0.379571	0.22425	N	0.060234	T	0.14485	0.0350	N	0.08118	0	0.26623	N	0.972618	B	0.27823	0.19	B	0.24006	0.05	T	0.11542	-1.0583	10	0.51188	T	0.08	-2.9407	7.1913	0.25826	0.0:0.8039:0.0:0.1961	.	140	Q14774	HLX_HUMAN	L	140	ENSP00000355870:P140L	ENSP00000355870:P140L	P	+	2	0	HLX	219120241	0.364000	0.24997	0.019000	0.16419	0.053000	0.15095	4.624000	0.61254	1.239000	0.43787	0.655000	0.94253	CCT		0.711	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		4	18	0	0	0	1	0	4	18				
TNRC6A	27327	broad.mit.edu	37	16	24817584	24817584	+	Missense_Mutation	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr16:24817584C>T	ENST00000395799.3	+	16	4438	c.4309C>T	c.(4309-4311)Cgg>Tgg	p.R1437W	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1388W|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1437					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCTGGGAACCGGCCGCAGCA	0.498																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4309-4311)Cgg>Tgg		trinucleotide repeat containing 6A							66.0	60.0	62.0					16																	24817584		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24817584C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4309C>T	16.37:g.24817584C>T	ENSP00000379144:p.Arg1437Trp					TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1388W|CTD-2515A14.1_ENST00000568895.1_RNA	p.R1437W	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	16	4438	+			1437					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.4309C>T	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.613335|5.613335	0.96637|0.96637	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799	.|T;T	.|0.15487	.|2.46;2.42	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45074|0.45074	0.1324|0.1324	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.998;0.999;0.952	T|T	0.14476|0.14476	-1.0471|-1.0471	5|10	.|0.87932	.|D	.|0	-15.6005|-15.6005	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|104;576;1388;1437	.|B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7	.|.;.;.;TNR6A_HUMAN	L|W	327|1388;1437	.|ENSP00000326900:R1388W;ENSP00000379144:R1437W	.|ENSP00000326900:R1388W	P|R	+|+	2|1	0|2	TNRC6A|TNRC6A	24725085|24725085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.116000|5.116000	0.64661|0.64661	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CCG|CGG		0.498	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		6	34	0	0	0	1	0	6	34				
STAT3	6774	broad.mit.edu	37	17	40478180	40478180	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr17:40478180G>A	ENST00000264657.5	-	15	1631	c.1319C>T	c.(1318-1320)aCc>aTc	p.T440I	STAT3_ENST00000404395.3_Missense_Mutation_p.T440I|STAT3_ENST00000585517.1_Missense_Mutation_p.T440I|STAT3_ENST00000389272.3_Missense_Mutation_p.T342I|STAT3_ENST00000588969.1_Missense_Mutation_p.T440I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	440					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GGTCTCAAAGGTGATCAGGTG	0.532									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1318-1320)aCc>aTc		signal transducer and activator of transcription 3 (acute-phase response factor)							123.0	106.0	112.0					17																	40478180		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40478180G>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1319C>T	17.37:g.40478180G>A	ENSP00000264657:p.Thr440Ile					STAT3_ENST00000588969.1_Missense_Mutation_p.T440I|STAT3_ENST00000585517.1_Missense_Mutation_p.T440I|STAT3_ENST00000389272.3_Missense_Mutation_p.T342I|STAT3_ENST00000404395.3_Missense_Mutation_p.T440I	p.T440I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	15	1631	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	440					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1319C>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.197203	0.58126	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.87334	-2.24;-2.24;-2.24	5.8	5.8	0.92144	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.137944	0.64402	D	0.000003	D	0.84808	0.5554	L	0.32530	0.975	0.58432	D	0.999999	B;B;B	0.22909	0.062;0.077;0.077	B;B;B	0.32805	0.094;0.153;0.153	T	0.79188	-0.1906	10	0.37606	T	0.19	-21.6568	20.0635	0.97698	0.0:0.0:1.0:0.0	.	440;440;440	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	I	440;342;440	ENSP00000264657:T440I;ENSP00000373923:T342I;ENSP00000384943:T440I	ENSP00000264657:T440I	T	-	2	0	STAT3	37731706	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.572000	0.67411	2.745000	0.94114	0.494000	0.49563	ACC		0.532	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		3	30	0	0	0	1	0	3	30				
EDAR	10913	broad.mit.edu	37	2	109545753	109545753	+	Missense_Mutation	SNP	A	A	G			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr2:109545753A>G	ENST00000258443.2	-	4	687	c.257T>C	c.(256-258)aTa>aCa	p.I86T	EDAR_ENST00000376651.1_Missense_Mutation_p.I86T|EDAR_ENST00000409271.1_Missense_Mutation_p.I86T	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	86					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACGCCTGCATATCTGGTAGCC	0.607																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(256-258)aTa>aCa		ectodysplasin A receptor							88.0	79.0	82.0					2																	109545753		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109545753A>G	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.257T>C	2.37:g.109545753A>G	ENSP00000258443:p.Ile86Thr					EDAR_ENST00000258443.2_Missense_Mutation_p.I86T|EDAR_ENST00000376651.1_Missense_Mutation_p.I86T	p.I86T			Q9UNE0	EDAR_HUMAN			5	700	-			86					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.257T>C	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.724905	0.68959	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.90324	-2.63;-2.65;-2.63	5.25	5.25	0.73442	.	0.150821	0.56097	D	0.000027	D	0.92397	0.7587	L	0.41415	1.275	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.78314	0.991;0.977	D	0.91001	0.4842	10	0.27785	T	0.31	-25.4706	15.1586	0.72764	1.0:0.0:0.0:0.0	.	86;86	E9PC98;Q9UNE0	.;EDAR_HUMAN	T	86	ENSP00000386371:I86T;ENSP00000258443:I86T;ENSP00000365839:I86T	ENSP00000258443:I86T	I	-	2	0	EDAR	108912185	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.850000	0.92190	1.980000	0.57719	0.379000	0.24179	ATA		0.607	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			3	31	0	0	0	1	0	3	31				
PRG4	10216	broad.mit.edu	37	1	186276565	186276565	+	Missense_Mutation	SNP	A	A	G	rs558640103	byFrequency	TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr1:186276565A>G	ENST00000445192.2	+	7	1759	c.1714A>G	c.(1714-1716)Acc>Gcc	p.T572A	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367483.4_Missense_Mutation_p.T531A|PRG4_ENST00000367486.3_Missense_Mutation_p.T529A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	572	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T572A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGCACCCACCACCCCCAAGAA	0.642													-|||	2	0.000399361	0.0008	0.0	5008	,	,		7951	0.0		0.001	False		,,,				2504	0.0					ENST00000445192.2																			1	Substitution - Missense(1)	p.T572A(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1714-1716)Acc>Gcc		proteoglycan 4							99.0	99.0	99.0					1																	186276565		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276565A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1714A>G	1.37:g.186276565A>G	ENSP00000399679:p.Thr572Ala					PRG4_ENST00000367483.4_Missense_Mutation_p.T531A|PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367486.3_Missense_Mutation_p.T529A|PRG4_ENST00000367484.3_Intron	p.T572A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1759	+			572			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1714A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	a	6.012	0.370698	0.11409	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05513	3.43;3.54;3.44;3.54	3.96	1.21	0.21127	.	.	.	.	.	T	0.06096	0.0158	L	0.49126	1.545	0.09310	N	1	B;B;B;B	0.18013	0.025;0.025;0.015;0.025	B;B;B;B	0.19666	0.026;0.026;0.011;0.026	T	0.42292	-0.9460	8	.	.	.	.	3.8704	0.09035	0.6441:0.2029:0.1531:0.0	.	438;479;572;531	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	529;438;531;479;572	ENSP00000356456:T529A;ENSP00000356453:T531A;ENSP00000356455:T479A;ENSP00000399679:T572A	.	T	+	1	0	PRG4	184543188	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.247000	0.18179	0.012000	0.14892	-0.559000	0.04183	ACC		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		3	41	0	0	0	1	0	3	41				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	14	0	0	0	1	0	3	14				
MYO5A	4644	broad.mit.edu	37	15	52646099	52646099	+	Missense_Mutation	SNP	T	T	G			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr15:52646099T>G	ENST00000399231.3	-	26	3779	c.3536A>C	c.(3535-3537)aAg>aCg	p.K1179T	MYO5A_ENST00000358212.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000356338.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000399233.2_Missense_Mutation_p.K1179T|MYO5A_ENST00000553916.1_Missense_Mutation_p.K1179T	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1179					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTGCTCCTCCTTGCGGTCCAG	0.562																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(3535-3537)aAg>aCg		myosin VA (heavy chain 12, myoxin)							110.0	117.0	114.0					15																	52646099		2102	4221	6323	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52646099T>G		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3536A>C	15.37:g.52646099T>G	ENSP00000382177:p.Lys1179Thr					MYO5A_ENST00000553916.1_Missense_Mutation_p.K1179T|MYO5A_ENST00000358212.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000356338.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000399233.2_Missense_Mutation_p.K1179T	p.K1179T	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	26	3779	-			1179					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.3536A>C	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.200721	0.58126	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	6.07	1.29	0.21616	.	0.142257	0.64402	D	0.000006	T	0.14960	0.0361	L	0.27053	0.805	0.48341	D	0.999636	P;P	0.46142	0.57;0.873	B;P	0.46076	0.104;0.503	T	0.08889	-1.0700	10	0.13470	T	0.59	.	9.66	0.39950	0.0:0.2493:0.0:0.7507	.	1179;1179	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	T	1179;713;1179;1179;1179;809;1179	ENSP00000382177:K1179T;ENSP00000382179:K1179T;ENSP00000348693:K1179T;ENSP00000350945:K1179T;ENSP00000451109:K1179T	ENSP00000348693:K1179T	K	-	2	0	MYO5A	50433391	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	3.062000	0.49971	-0.027000	0.13873	0.533000	0.62120	AAG		0.562	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		9	75	0	0	0	1	0	9	75				
SVOP	55530	broad.mit.edu	37	12	109332604	109332604	+	Splice_Site	SNP	T	T	C			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr12:109332604T>C	ENST00000299134.5	-	7	699	c.700A>G	c.(700-702)Agg>Ggg	p.R234G		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						GGCACTGACCTGTCTGGAGAT	0.542																																						ENST00000299134.5																			0				breast(2)|lung(4)	6						c.e7+1		SV2 related protein homolog (rat)							340.0	346.0	344.0					12																	109332604		2139	4243	6382	SO:0001630	splice_region_variant	55530					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	g.chr12:109332604T>C	BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.701+1A>G	12.37:g.109332604T>C							p.R234_splice	NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN			7	699	-			0					Q9NPW5	Splice_Site	SNP	ENST00000299134.5	37	c.701_splice		.	.	.	.	.	.	.	.	.	.	T	16.29	3.082787	0.55861	.	.	ENSG00000166111	ENST00000299134	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	T	0.60792	0.2296	L	0.47716	1.5	.	.	.	.	.	.	.	.	.	T	0.67333	-0.5697	4	.	.	.	-20.671	13.6427	0.62260	0.0:0.0:0.0:1.0	.	.	.	.	G	234	.	.	R	-	1	2	SVOP	107856733	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.181000	0.77682	2.103000	0.63969	0.533000	0.62120	AGG		0.542	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	NM_018711	Missense_Mutation	5	194	0	0	0	1	0	5	194				
ARNT	405	broad.mit.edu	37	1	150812108	150812108	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr1:150812108G>A	ENST00000358595.5	-	6	495	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	ARNT_ENST00000515192.1_Missense_Mutation_p.R90W|ARNT_ENST00000505755.1_Missense_Mutation_p.R84W|ARNT_ENST00000354396.2_Missense_Mutation_p.R99W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	99	Poly-Arg.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGTCGCCGCCGTTCAATTTCA	0.493			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(295-297)Cgg>Tgg		aryl hydrocarbon receptor nuclear translocator							117.0	107.0	110.0					1																	150812108		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150812108G>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.295C>T	1.37:g.150812108G>A	ENSP00000351407:p.Arg99Trp					ARNT_ENST00000354396.2_Missense_Mutation_p.R99W|ARNT_ENST00000515192.1_Missense_Mutation_p.R90W|ARNT_ENST00000505755.1_Missense_Mutation_p.R84W	p.R99W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	495	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		99			Poly-Arg.		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.295C>T	CCDS970.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820176	0.90873	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41	6.17	5.24	0.73138	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	M	0.91872	3.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.998;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.976;0.923;0.944;0.982;0.982;0.954;1.0	D	0.98444	1.0588	10	0.87932	D	0	.	16.4222	0.83766	0.0:0.0:0.8585:0.1415	.	83;99;84;99;90;84;99	B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;.;ARNT_HUMAN	W	99;99;99;90;83;84	ENSP00000351407:R99W;ENSP00000346372:R99W;ENSP00000423851:R90W;ENSP00000427571:R84W	ENSP00000346372:R99W	R	-	1	2	ARNT	149078732	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.078000	0.50096	1.555000	0.49500	0.655000	0.94253	CGG		0.493	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			3	10	0	0	0	1	0	3	10				
FN1	2335	broad.mit.edu	37	2	216273109	216273109	+	Silent	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr2:216273109C>T	ENST00000359671.1	-	16	2605	c.2340G>A	c.(2338-2340)ctG>ctA	p.L780L	FN1_ENST00000421182.1_Silent_p.L780L|FN1_ENST00000345488.5_Silent_p.L780L|FN1_ENST00000357867.4_Silent_p.L780L|FN1_ENST00000446046.1_Silent_p.L780L|FN1_ENST00000354785.4_Silent_p.L780L|FN1_ENST00000323926.6_Silent_p.L780L|FN1_ENST00000336916.4_Silent_p.L780L|FN1_ENST00000432072.2_Silent_p.L780L|FN1_ENST00000346544.3_Silent_p.L780L|FN1_ENST00000357009.2_Silent_p.L780L|FN1_ENST00000356005.4_Silent_p.L780L|FN1_ENST00000443816.1_Silent_p.L780L			P02751	FINC_HUMAN	fibronectin 1	780	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGCCAGGAAGCAGGTCAGGGA	0.423																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(2338-2340)ctG>ctA		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						91.0	86.0	88.0					2																	216273109		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216273109C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2340G>A	2.37:g.216273109C>T						FN1_ENST00000345488.5_Silent_p.L780L|FN1_ENST00000432072.2_Silent_p.L780L|FN1_ENST00000359671.1_Silent_p.L780L|FN1_ENST00000357867.4_Silent_p.L780L|FN1_ENST00000357009.2_Silent_p.L780L|FN1_ENST00000356005.4_Silent_p.L780L|FN1_ENST00000346544.3_Silent_p.L780L|FN1_ENST00000336916.4_Silent_p.L780L|FN1_ENST00000323926.6_Silent_p.L780L|FN1_ENST00000446046.1_Silent_p.L780L|FN1_ENST00000443816.1_Silent_p.L780L|FN1_ENST00000421182.1_Silent_p.L780L	p.L780L			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	16	2709	-		Renal(323;0.127)	780			Fibronectin type-III 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.2340G>A																																																																																					0.423	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		13	36	0	0	0	1	0	13	36				
MAGED1	9500	broad.mit.edu	37	X	51637809	51637809	+	Intron	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chrX:51637809C>T	ENST00000375722.1	+	3	297				MAGED1_ENST00000375695.2_Silent_p.C44C|MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000375772.3_Intron			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.C44C(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCACTCTGTGCGACCCCCCTT	0.602										Multiple Myeloma(10;0.10)																												ENST00000375695.2																			1	Substitution - coding silent(1)	p.C44C(1)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(130-132)tgC>tgT		melanoma antigen family D, 1							72.0	62.0	66.0					X																	51637809		2203	4300	6503	SO:0001627	intron_variant	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51637809C>T	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.46-340C>T	X.37:g.51637809C>T		Multiple Myeloma(10;0.10)				MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000375722.1_Intron|MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000326587.7_Intron	p.C44C	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			3	285	+	Ovarian(276;0.236)		0					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	c.132C>T	CCDS14337.1																																																																																				0.602	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		5	10	0	0	0	1	0	5	10				
NAA30	122830	broad.mit.edu	37	14	57858352	57858352	+	Missense_Mutation	SNP	A	A	G			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr14:57858352A>G	ENST00000556492.1	+	2	831	c.677A>G	c.(676-678)gAt>gGt	p.D226G	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	226	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						CAAATGCCCGATATCATGAGA	0.488																																						ENST00000556492.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						c.(676-678)gAt>gGt		N(alpha)-acetyltransferase 30, NatC catalytic subunit							164.0	185.0	178.0					14																	57858352		2203	4300	6503	SO:0001583	missense	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57858352A>G	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.677A>G	14.37:g.57858352A>G	ENSP00000452521:p.Asp226Gly					NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	p.D226G	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN			2	831	+			226			N-acetyltransferase.		Q0IIN2	Missense_Mutation	SNP	ENST00000556492.1	37	c.677A>G	CCDS32088.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077055	0.36662	.	.	ENSG00000139977	ENST00000556492;ENST00000395257	T	0.68181	-0.31	4.47	4.47	0.54385	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.146714	0.50627	D	0.000104	T	0.63046	0.2478	L	0.59436	1.845	0.80722	D	1	B	0.22909	0.077	B	0.24269	0.052	T	0.62388	-0.6865	10	0.40728	T	0.16	-10.9665	13.9309	0.63994	1.0:0.0:0.0:0.0	.	226	Q147X3	NAA30_HUMAN	G	226;189	ENSP00000452521:D226G	ENSP00000298406:D226G	D	+	2	0	NAA30	56928105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.719000	0.74718	1.872000	0.54250	0.533000	0.62120	GAT		0.488	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		5	169	0	0	0	1	0	5	169				
OR8J3	81168	broad.mit.edu	37	11	55905035	55905035	+	Missense_Mutation	SNP	G	G	C			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr11:55905035G>C	ENST00000301529.1	-	1	159	c.160C>G	c.(160-162)Cga>Gga	p.R54G		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TTTTGAAGTCGAGAGTCAACA	0.473																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(160-162)Cga>Gga		olfactory receptor, family 8, subfamily J, member 3							147.0	142.0	144.0					11																	55905035		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55905035G>C		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.160C>G	11.37:g.55905035G>C	ENSP00000301529:p.Arg54Gly						p.R54G	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	159	-	Esophageal squamous(21;0.00693)		54					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.160C>G	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	6.013	0.370736	0.11409	.	.	ENSG00000167822	ENST00000301529	T	0.01133	5.29	3.26	-2.42	0.06542	GPCR, rhodopsin-like superfamily (1);	0.400945	0.21579	N	0.072267	T	0.01454	0.0047	M	0.71581	2.175	0.09310	N	1	B	0.15719	0.014	B	0.21151	0.033	T	0.42481	-0.9449	10	0.66056	D	0.02	.	3.1093	0.06352	0.0914:0.1358:0.3078:0.4649	.	54	Q8NGG0	OR8J3_HUMAN	G	54	ENSP00000301529:R54G	ENSP00000301529:R54G	R	-	1	2	OR8J3	55661611	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-0.264000	0.08658	-0.333000	0.08476	0.289000	0.19496	CGA		0.473	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		5	71	0	0	0	1	0	5	71				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	42	0	0	0	1	0	4	42				
PTPN3	5774	broad.mit.edu	37	9	112185070	112185070	+	Missense_Mutation	SNP	C	C	A			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr9:112185070C>A	ENST00000374541.2	-	13	1168	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L	PTPN3_ENST00000412145.1_Missense_Mutation_p.R224L|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000262539.3_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	355					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TAAGGATCTCCGCATGGCTGG	0.453																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(670-672)cGg>cTg		protein tyrosine phosphatase, non-receptor type 3							208.0	193.0	198.0					9																	112185070		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112185070C>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1064G>T	9.37:g.112185070C>A	ENSP00000363667:p.Arg355Leu					PTPN3_ENST00000374541.2_Missense_Mutation_p.R355L|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000262539.3_Intron	p.R224L	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			8	3224	-			355			FERM.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.671G>T	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453896	0.63290	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000374541	T;T	0.61392	0.11;0.11	5.55	3.6	0.41247	.	0.156133	0.52532	D	0.000063	T	0.63438	0.2511	L	0.52573	1.65	0.80722	D	1	D	0.58268	0.982	P	0.56916	0.809	T	0.65780	-0.6085	10	0.62326	D	0.03	.	11.218	0.48838	0.0:0.8457:0.0:0.1543	.	355	P26045	PTN3_HUMAN	L	355;224;355	ENSP00000416654:R224L;ENSP00000363667:R355L	ENSP00000363667:R355L	R	-	2	0	PTPN3	111224891	0.921000	0.31238	1.000000	0.80357	0.996000	0.88848	1.011000	0.29911	1.249000	0.43950	0.650000	0.86243	CGG		0.453	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			4	104	1	0	0.00909568	1	0.00909568	4	104				
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	A	G			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr19:53472914A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTTGATTTTCAATTAAAAACC	0.338																																						ENST00000600068.1																			0																																																			79986							g.chr19:53472914A>G																													19.37:g.53472914A>G						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.338	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			3	13	0	0	0	1	0	3	13				
JAM3	83700	broad.mit.edu	37	11	134014247	134014247	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr11:134014247G>A	ENST00000299106.4	+	4	527	c.368G>A	c.(367-369)cGc>cAc	p.R123H	JAM3_ENST00000441717.3_Intron|JAM3_ENST00000529443.2_Missense_Mutation_p.R168H|JAM3_ENST00000524969.1_3'UTR			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	123	Ig-like V-type.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CGAAATGACCGCAAGGAAATT	0.488																																						ENST00000299106.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10						c.(367-369)cGc>cAc		junctional adhesion molecule 3							184.0	150.0	162.0					11																	134014247		2201	4297	6498	SO:0001583	missense	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134014247G>A	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.368G>A	11.37:g.134014247G>A	ENSP00000299106:p.Arg123His					JAM3_ENST00000529443.2_Missense_Mutation_p.R168H|JAM3_ENST00000441717.3_Intron|JAM3_ENST00000524969.1_3'UTR	p.R123H			Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	4	527	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	123			Ig-like V-type.		B3KWG9|Q8WWL8|Q96FL1	Missense_Mutation	SNP	ENST00000299106.4	37	c.368G>A	CCDS8494.2	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246259	0.39697	.	.	ENSG00000166086	ENST00000299106	T	0.12672	2.66	5.03	0.443	0.16587	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.575467	0.18973	N	0.126091	T	0.05686	0.0149	N	0.12471	0.22	0.27938	N	0.937632	B	0.12630	0.006	B	0.12156	0.007	T	0.24977	-1.0145	10	0.42905	T	0.14	.	1.7526	0.02975	0.2621:0.1914:0.4165:0.1301	.	123	Q9BX67	JAM3_HUMAN	H	168	ENSP00000299106:R168H	ENSP00000299106:R168H	R	+	2	0	JAM3	133519457	0.023000	0.18921	0.996000	0.52242	0.921000	0.55340	0.664000	0.25068	0.141000	0.18875	0.561000	0.74099	CGC		0.488	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		3	53	0	0	0	1	0	3	53				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			3	78	0	0	0	1	0	3	78				
PTPN3	5774	broad.mit.edu	37	9	112185069	112185069	+	Silent	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr9:112185069C>T	ENST00000374541.2	-	13	1169	c.1065G>A	c.(1063-1065)cgG>cgA	p.R355R	PTPN3_ENST00000412145.1_Silent_p.R224R|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000262539.3_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	355					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATAAGGATCTCCGCATGGCTG	0.453																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(670-672)cgG>cgA		protein tyrosine phosphatase, non-receptor type 3							209.0	194.0	199.0					9																	112185069		2203	4300	6503	SO:0001819	synonymous_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112185069C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1065G>A	9.37:g.112185069C>T						PTPN3_ENST00000374541.2_Silent_p.R355R|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000262539.3_Intron	p.R224R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			8	3225	-			355			FERM.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.672G>A	CCDS6776.1																																																																																				0.453	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			4	107	0	0	0	1	0	4	107				
INPP5D	3635	broad.mit.edu	37	2	234102471	234102471	+	Silent	SNP	T	T	C			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr2:234102471T>C	ENST00000359570.5	+	25	2424	c.2424T>C	c.(2422-2424)atT>atC	p.I808I	INPP5D_ENST00000455936.2_Silent_p.I572I|INPP5D_ENST00000450745.1_Silent_p.I572I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	820					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGGGCTGCATTGCCCTTCGGT	0.582																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(2422-2424)atT>atC		inositol polyphosphate-5-phosphatase, 145kDa							94.0	94.0	94.0					2																	234102471		2029	4186	6215	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234102471T>C	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2424T>C	2.37:g.234102471T>C						INPP5D_ENST00000455936.2_Silent_p.I572I|INPP5D_ENST00000450745.1_Silent_p.I572I	p.I808I			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	25	2424	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	820					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.2424T>C																																																																																					0.582	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		24	53	0	0	0	1	0	24	53				
STAB2	55576	broad.mit.edu	37	12	104140440	104140440	+	Missense_Mutation	SNP	G	G	C			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr12:104140440G>C	ENST00000388887.2	+	58	6406	c.6202G>C	c.(6202-6204)Gag>Cag	p.E2068Q	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAACACGTGTGAGTGTAACCT	0.502																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6202-6204)Gag>Cag		stabilin 2							343.0	273.0	297.0					12																	104140440		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104140440G>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6202G>C	12.37:g.104140440G>C	ENSP00000373539:p.Glu2068Gln					RP11-341G23.4_ENST00000551299.1_RNA	p.E2068Q	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			58	6406	+			2068			EGF-like 15.			Missense_Mutation	SNP	ENST00000388887.2	37	c.6202G>C	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612768	0.46631	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	T	0.35421	1.31	5.43	5.43	0.79202	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.496401	0.20453	N	0.092056	T	0.29158	0.0725	L	0.35644	1.08	0.26123	N	0.980524	B	0.22746	0.074	B	0.19666	0.026	T	0.10683	-1.0619	10	0.21014	T	0.42	.	13.8289	0.63368	0.0:0.2781:0.7219:0.0	.	2068	Q8WWQ8	STAB2_HUMAN	Q	2068;755	ENSP00000373539:E2068Q	ENSP00000258495:E755Q	E	+	1	0	STAB2	102664570	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.556000	0.60775	2.545000	0.85829	0.462000	0.41574	GAG		0.502	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			33	150	0	0	0	1	0	33	150				
ADAMTS8	11095	broad.mit.edu	37	11	130278724	130278724	+	Missense_Mutation	SNP	T	T	C			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr11:130278724T>C	ENST00000257359.6	-	7	2568	c.1862A>G	c.(1861-1863)gAc>gGc	p.D621G		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	621	Cys-rich.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTTGCAGCGGTCCCGGGGGGA	0.577																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1861-1863)gAc>gGc		ADAM metallopeptidase with thrombospondin type 1 motif, 8							93.0	94.0	94.0					11																	130278724		1887	4119	6006	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130278724T>C	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1862A>G	11.37:g.130278724T>C	ENSP00000257359:p.Asp621Gly						p.D621G	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	7	2568	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	621			Cys-rich.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1862A>G	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.952600	0.92660	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.68025	-0.3	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.83529	0.5274	M	0.85041	2.73	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.986;0.999	D	0.86342	0.1705	10	0.72032	D	0.01	.	15.8307	0.78749	0.0:0.0:0.0:1.0	.	621;102	Q9UP79;B3KVX9	ATS8_HUMAN;.	G	19;621;650	ENSP00000257359:D621G	ENSP00000257359:D621G	D	-	2	0	ADAMTS8	129783934	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.622000	0.83099	2.202000	0.70862	0.533000	0.62120	GAC		0.577	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		23	87	0	0	0	1	0	23	87				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	67	0	0	0	1	0	4	67				
CSMD2	114784	broad.mit.edu	37	1	34090179	34090179	+	Silent	SNP	C	C	T	rs548355797		TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr1:34090179C>T	ENST00000373380.1	-	14	2404	c.2184G>A	c.(2182-2184)ccG>ccA	p.P728P	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.P1855P|CSMD2_ENST00000373377.1_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1815	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTTGAGGTACGGCTCTGGGA	0.662													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19481	0.0		0.0	False		,,,				2504	0.0					ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(5563-5565)ccG>ccA		CUB and Sushi multiple domains 2							125.0	102.0	110.0					1																	34090179		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34090179C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2184G>A	1.37:g.34090179C>T						CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Silent_p.P728P|CSMD2_ENST00000373388.2_5'UTR	p.P1855P	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			35	5741	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1815			CUB 11.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.5565G>A																																																																																					0.662	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		3	45	0	0	0	1	0	3	45				
HLX	3142	broad.mit.edu	37	1	221053618	221053618	+	Missense_Mutation	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr1:221053618C>T	ENST00000366903.6	+	1	1920	c.419C>T	c.(418-420)cCt>cTt	p.P140L	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_5'Flank	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	140	Pro-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		cagcCTCCGCCTCCGCCCCGG	0.711																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(418-420)cCt>cTt		H2.0-like homeobox							14.0	21.0	18.0					1																	221053618		2190	4273	6463	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221053618C>T	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.419C>T	1.37:g.221053618C>T	ENSP00000355870:p.Pro140Leu						p.P140L	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	1	1920	+			140			Pro-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.419C>T	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045138	0.36085	.	.	ENSG00000136630	ENST00000366903	T	0.29655	1.56	4.77	3.86	0.44501	.	0.379571	0.22425	N	0.060234	T	0.14485	0.0350	N	0.08118	0	0.26623	N	0.972618	B	0.27823	0.19	B	0.24006	0.05	T	0.11542	-1.0583	10	0.51188	T	0.08	-2.9407	7.1913	0.25826	0.0:0.8039:0.0:0.1961	.	140	Q14774	HLX_HUMAN	L	140	ENSP00000355870:P140L	ENSP00000355870:P140L	P	+	2	0	HLX	219120241	0.364000	0.24997	0.019000	0.16419	0.053000	0.15095	4.624000	0.61254	1.239000	0.43787	0.655000	0.94253	CCT		0.711	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		4	18	0	0	0	1	0	4	18				
TNRC6A	27327	broad.mit.edu	37	16	24817584	24817584	+	Missense_Mutation	SNP	C	C	T			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr16:24817584C>T	ENST00000395799.3	+	16	4438	c.4309C>T	c.(4309-4311)Cgg>Tgg	p.R1437W	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1388W|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1437					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCTGGGAACCGGCCGCAGCA	0.498																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4309-4311)Cgg>Tgg		trinucleotide repeat containing 6A							66.0	60.0	62.0					16																	24817584		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24817584C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4309C>T	16.37:g.24817584C>T	ENSP00000379144:p.Arg1437Trp					TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1388W|CTD-2515A14.1_ENST00000568895.1_RNA	p.R1437W	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	16	4438	+			1437					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.4309C>T	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.613335|5.613335	0.96637|0.96637	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799	.|T;T	.|0.15487	.|2.46;2.42	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45074|0.45074	0.1324|0.1324	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.998;0.999;0.952	T|T	0.14476|0.14476	-1.0471|-1.0471	5|10	.|0.87932	.|D	.|0	-15.6005|-15.6005	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|104;576;1388;1437	.|B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7	.|.;.;.;TNR6A_HUMAN	L|W	327|1388;1437	.|ENSP00000326900:R1388W;ENSP00000379144:R1437W	.|ENSP00000326900:R1388W	P|R	+|+	2|1	0|2	TNRC6A|TNRC6A	24725085|24725085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.116000|5.116000	0.64661|0.64661	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CCG|CGG		0.498	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		6	34	0	0	0	1	0	6	34				
STAT3	6774	broad.mit.edu	37	17	40478180	40478180	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr17:40478180G>A	ENST00000264657.5	-	15	1631	c.1319C>T	c.(1318-1320)aCc>aTc	p.T440I	STAT3_ENST00000404395.3_Missense_Mutation_p.T440I|STAT3_ENST00000585517.1_Missense_Mutation_p.T440I|STAT3_ENST00000389272.3_Missense_Mutation_p.T342I|STAT3_ENST00000588969.1_Missense_Mutation_p.T440I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	440					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GGTCTCAAAGGTGATCAGGTG	0.532									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1318-1320)aCc>aTc		signal transducer and activator of transcription 3 (acute-phase response factor)							123.0	106.0	112.0					17																	40478180		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40478180G>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1319C>T	17.37:g.40478180G>A	ENSP00000264657:p.Thr440Ile					STAT3_ENST00000588969.1_Missense_Mutation_p.T440I|STAT3_ENST00000404395.3_Missense_Mutation_p.T440I|STAT3_ENST00000585517.1_Missense_Mutation_p.T440I|STAT3_ENST00000389272.3_Missense_Mutation_p.T342I	p.T440I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	15	1631	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	440					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1319C>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.197203	0.58126	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.87334	-2.24;-2.24;-2.24	5.8	5.8	0.92144	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.137944	0.64402	D	0.000003	D	0.84808	0.5554	L	0.32530	0.975	0.58432	D	0.999999	B;B;B	0.22909	0.062;0.077;0.077	B;B;B	0.32805	0.094;0.153;0.153	T	0.79188	-0.1906	10	0.37606	T	0.19	-21.6568	20.0635	0.97698	0.0:0.0:1.0:0.0	.	440;440;440	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	I	440;342;440	ENSP00000264657:T440I;ENSP00000373923:T342I;ENSP00000384943:T440I	ENSP00000264657:T440I	T	-	2	0	STAT3	37731706	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.572000	0.67411	2.745000	0.94114	0.494000	0.49563	ACC		0.532	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		3	30	0	0	0	1	0	3	30				
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																						ENST00000252244.3																			3	Deletion - In frame(3)	p.S557_G563delSSYGSGG(3)	prostate(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1654-1677)tac>ta		keratin 1				1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del						p.YGSGGSSY552del	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1714_1734	-			552			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		3	4						3	4	---	---	---	---
INO80E	283899	broad.mit.edu	37	16	30007665	30007665	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr16:30007665delA	ENST00000563197.1	+	1	1051	c.34delA	c.(34-36)aaafs	p.K14fs	HIRIP3_ENST00000566471.1_5'Flank|HIRIP3_ENST00000564026.1_5'Flank|INO80E_ENST00000304516.7_Frame_Shift_Del_p.K14fs|INO80E_ENST00000567705.1_Frame_Shift_Del_p.K14fs|INO80E_ENST00000567254.1_Frame_Shift_Del_p.K14fs|INO80E_ENST00000563040.1_3'UTR|HIRIP3_ENST00000279392.3_5'UTR	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	14					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						AGTGGACTACAAAAAAAAATA	0.632																																						ENST00000563197.1																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						c.(34-36)aafs		INO80 complex subunit E				60,46,4144		0,1,59,0,45,2020	28.0	31.0	30.0			5.2	1.0	16	dbSNP_126	30	90,92,8032		0,0,90,2,88,3927	no	codingComplex	INO80E	NM_173618.1		0,1,149,2,133,5947	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2157,2.4941,2.3107			30007665	150,138,12176	2193	4283	6476	SO:0001589	frameshift_variant	283899				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex		g.chr16:30007665delA	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.34delA	16.37:g.30007665delA	ENSP00000457016:p.Lys14fs					INO80E_ENST00000567705.1_Frame_Shift_Del_p.K14fs|INO80E_ENST00000567254.1_Frame_Shift_Del_p.K14fs|INO80E_ENST00000304516.7_Frame_Shift_Del_p.K14fs|HIRIP3_ENST00000279392.3_5'UTR|INO80E_ENST00000563040.1_3'UTR	p.K14fs	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN			1	1051	+			14					Q6Y2K3	Frame_Shift_Del	DEL	ENST00000563197.1	37	c.34delA	CCDS10665.1																																																																																				0.632	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	NM_173618		2	4						2	4	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628226	29628226	+	Splice_Site	DEL	G	G	-	rs78710112	byFrequency	TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr20:29628226delG	ENST00000278882.3	+	6	608		c.e6-1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTTCACTTAGGGGAAAATGG	0.358																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e6-1																																						SO:0001630	splice_region_variant	284802							g.chr20:29628226delG			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.229-1G>-	20.37:g.29628226delG						FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site								6	608	+								C4AME5	Splice_Site	DEL	ENST00000278882.3	37																																																																																						0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	11	99						11	99	---	---	---	---
INO80E	283899	broad.mit.edu	37	16	30007665	30007665	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-11A-11D-A35D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	53974e4d-8f60-42da-99b9-e07513f66e3e	g.chr16:30007665delA	ENST00000563197.1	+	1	1051	c.34delA	c.(34-36)aaafs	p.K14fs	HIRIP3_ENST00000566471.1_5'Flank|HIRIP3_ENST00000564026.1_5'Flank|INO80E_ENST00000304516.7_Frame_Shift_Del_p.K14fs|INO80E_ENST00000567705.1_Frame_Shift_Del_p.K14fs|INO80E_ENST00000567254.1_Frame_Shift_Del_p.K14fs|INO80E_ENST00000563040.1_3'UTR|HIRIP3_ENST00000279392.3_5'UTR	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	14					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						AGTGGACTACAAAAAAAAATA	0.632																																						ENST00000563197.1																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						c.(34-36)aafs		INO80 complex subunit E				60,46,4144		0,1,59,0,45,2020	28.0	31.0	30.0			5.2	1.0	16	dbSNP_126	30	90,92,8032		0,0,90,2,88,3927	no	codingComplex	INO80E	NM_173618.1		0,1,149,2,133,5947	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2157,2.4941,2.3107			30007665	150,138,12176	2193	4283	6476	SO:0001589	frameshift_variant	283899				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex		g.chr16:30007665delA	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.34delA	16.37:g.30007665delA	ENSP00000457016:p.Lys14fs					INO80E_ENST00000567705.1_Frame_Shift_Del_p.K14fs|INO80E_ENST00000304516.7_Frame_Shift_Del_p.K14fs|INO80E_ENST00000567254.1_Frame_Shift_Del_p.K14fs|HIRIP3_ENST00000279392.3_5'UTR|INO80E_ENST00000563040.1_3'UTR	p.K14fs	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN			1	1051	+			14					Q6Y2K3	Frame_Shift_Del	DEL	ENST00000563197.1	37	c.34delA	CCDS10665.1																																																																																				0.632	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	NM_173618		2	4						2	4	---	---	---	---
