#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
EIF4G2	1982	broad.mit.edu	37	11	10823638	10823638	+	Silent	SNP	T	T	C	rs528884038		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:10823638T>C	ENST00000526148.1	-	13	1767	c.1257A>G	c.(1255-1257)caA>caG	p.Q419Q	EIF4G2_ENST00000339995.5_Silent_p.Q419Q|EIF4G2_ENST00000525681.1_Silent_p.Q419Q|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.Q419Q|EIF4G2_ENST00000525995.1_5'Flank|SNORD97_ENST00000459187.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CAAACTGCGATTGTGTGGGAG	0.428																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(1255-1257)caA>caG		eukaryotic translation initiation factor 4 gamma, 2							127.0	113.0	118.0					11																	10823638		2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10823638T>C	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1257A>G	11.37:g.10823638T>C						EIF4G2_ENST00000339995.5_Silent_p.Q419Q|EIF4G2_ENST00000525681.1_Silent_p.Q419Q|EIF4G2_ENST00000396525.2_Silent_p.Q419Q	p.Q419Q	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	13	1767	-			419						Silent	SNP	ENST00000526148.1	37	c.1257A>G	CCDS31428.1																																																																																				0.428	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		19	61	0	0	0	1	0	19	61				
WSB1	26118	broad.mit.edu	37	17	25631813	25631813	+	Silent	SNP	C	C	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:25631813C>A	ENST00000262394.2	+	4	802	c.486C>A	c.(484-486)ctC>ctA	p.L162L	WSB1_ENST00000579733.1_Silent_p.L16L|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000348811.2_Silent_p.L16L|WSB1_ENST00000581185.1_Silent_p.L162L|WSB1_ENST00000427287.2_Silent_p.L131L	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	162					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TAGGAAAACTCCTCCTTAACT	0.358																																						ENST00000262394.2																			0				lung(3)	3						c.(484-486)ctC>ctA		WD repeat and SOCS box containing 1							90.0	90.0	90.0					17																	25631813		2203	4300	6503	SO:0001819	synonymous_variant	26118				intracellular signal transduction	intracellular	protein binding	g.chr17:25631813C>A	AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.486C>A	17.37:g.25631813C>A						WSB1_ENST00000579733.1_Silent_p.L16L|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000581185.1_Silent_p.L162L|WSB1_ENST00000348811.2_Silent_p.L16L|WSB1_ENST00000427287.2_Silent_p.L131L	p.L162L	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	4	802	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		162					Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Silent	SNP	ENST00000262394.2	37	c.486C>A	CCDS11220.1																																																																																				0.358	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	NM_015626		13	32	1	0	1.49906e-05	1	1.52458e-05	13	32				
ADCY10	55811	broad.mit.edu	37	1	167798634	167798634	+	Silent	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:167798634C>T	ENST00000367851.4	-	26	3805	c.3621G>A	c.(3619-3621)cgG>cgA	p.R1207R	ADCY10_ENST00000367848.1_Silent_p.R1115R|ADCY10_ENST00000545172.1_Silent_p.R1054R	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1207					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.R1207R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGACAGTTTGCCGGTAAAGTT	0.423																																						ENST00000367848.1																			1	Substitution - coding silent(1)	p.R1207R(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(3343-3345)cgG>cgA		adenylate cyclase 10 (soluble)							99.0	98.0	98.0					1																	167798634		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167798634C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3621G>A	1.37:g.167798634C>T						ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Silent_p.R1207R|ADCY10_ENST00000545172.1_Silent_p.R1054R	p.R1115R			Q96PN6	ADCYA_HUMAN			26	3842	-			1207					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.3345G>A	CCDS1265.1																																																																																				0.423	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		5	92	0	0	0	1	0	5	92				
TPH2	121278	broad.mit.edu	37	12	72425365	72425365	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:72425365G>A	ENST00000333850.3	+	11	1504	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	455					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	ACAGAGTATTGAAATTCTGAA	0.393																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1363-1365)Gaa>Aaa		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						123.0	116.0	119.0					12																	72425365		2203	4299	6502	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72425365G>A	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1363G>A	12.37:g.72425365G>A	ENSP00000329093:p.Glu455Lys						p.E455K	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			11	1504	+			455					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.1363G>A	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946192	0.92593	.	.	ENSG00000139287	ENST00000333850	D	0.99652	-6.3	5.82	5.82	0.92795	Aromatic amino acid hydroxylase, C-terminal (4);	0.055013	0.64402	D	0.000001	D	0.99187	0.9718	M	0.71920	2.185	0.80722	D	1	P	0.41498	0.752	B	0.43536	0.423	D	0.99918	1.1238	10	0.87932	D	0	-30.2596	20.1663	0.98152	0.0:0.0:1.0:0.0	.	455	Q8IWU9	TPH2_HUMAN	K	455	ENSP00000329093:E455K	ENSP00000329093:E455K	E	+	1	0	TPH2	70711632	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.865000	0.99609	2.773000	0.95371	0.586000	0.80456	GAA		0.393	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		19	49	0	0	0	1	0	19	49				
STRA8	346673	broad.mit.edu	37	7	134925454	134925454	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:134925454C>T	ENST00000275764.3	+	2	244	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						TCAGTCTGATCTCATAGCCTC	0.612																																						ENST00000275764.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						c.(244-246)Ctc>Ttc		stimulated by retinoic acid 8							53.0	52.0	52.0					7																	134925454		2203	4300	6503	SO:0001583	missense	346673				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		g.chr7:134925454C>T	AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.244C>T	7.37:g.134925454C>T	ENSP00000275764:p.Leu82Phe						p.L82F	NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN			2	244	+			82						Missense_Mutation	SNP	ENST00000275764.3	37	c.244C>T	CCDS5839.1	.	.	.	.	.	.	.	.	.	.	C	5.688	0.311540	0.10789	.	.	ENSG00000146857	ENST00000275764	D	0.97575	-4.44	5.16	-1.63	0.08345	Helix-loop-helix DNA-binding (1);	1.089160	0.07066	N	0.834583	D	0.90075	0.6900	N	0.24115	0.695	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.80553	-0.1331	10	0.10636	T	0.68	-1.8403	0.7102	0.00923	0.3758:0.25:0.1087:0.2654	.	82	Q7Z7C7	STRA8_HUMAN	F	82	ENSP00000275764:L82F	ENSP00000275764:L82F	L	+	1	0	STRA8	134575994	0.000000	0.05858	0.250000	0.24296	0.934000	0.57294	-0.269000	0.08596	-0.036000	0.13669	0.555000	0.69702	CTC		0.612	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489		17	57	0	0	0	1	0	17	57				
TG	7038	broad.mit.edu	37	8	134107289	134107289	+	Splice_Site	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:134107289G>C	ENST00000220616.4	+	42	7281	c.7241G>C	c.(7240-7242)gGa>gCa	p.G2414A	TG_ENST00000519543.1_Splice_Site_p.G547A|SLA_ENST00000524345.1_Intron|TG_ENST00000542445.1_Splice_Site_p.G784A|SLA_ENST00000517648.1_Intron|SLA_ENST00000338087.5_Intron|TG_ENST00000377869.1_Splice_Site_p.G2357A|SLA_ENST00000395352.3_Intron|SLA_ENST00000518565.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2414					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCTTCCAGGGAGGCTCCGCA	0.592																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.e42-1		thyroglobulin							77.0	78.0	78.0					8																	134107289		2203	4300	6503	SO:0001630	splice_region_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134107289G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7240-1G>C	8.37:g.134107289G>C						TG_ENST00000542445.1_Splice_Site_p.G784_splice|TG_ENST00000377869.1_Splice_Site_p.G2357_splice|SLA_ENST00000517648.1_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Splice_Site_p.G547_splice|SLA_ENST00000518565.1_Intron	p.G2414_splice	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	42	7281	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2414					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Splice_Site	SNP	ENST00000220616.4	37	c.7239_splice	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005579	0.74932	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.07	6.07	0.98685	Carboxylesterase, type B (1);	0.087077	0.49916	D	0.000128	T	0.72260	0.3438	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;0.962;1.0	D;P;D	0.87578	0.991;0.88;0.998	T	0.73525	-0.3955	10	0.87932	D	0	.	16.144	0.81551	0.0:0.0:1.0:0.0	.	547;784;2414	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	A	2357;1220;2414;784;547	ENSP00000367100:G2357A;ENSP00000220616:G2414A;ENSP00000441693:G784A;ENSP00000430430:G547A	ENSP00000220616:G2414A	G	+	2	0	TG	134176471	1.000000	0.71417	0.985000	0.45067	0.790000	0.44656	5.889000	0.69766	2.884000	0.98904	0.655000	0.94253	GGA		0.592	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Missense_Mutation	30	131	0	0	0	1	0	30	131				
NOTCH1	4851	broad.mit.edu	37	9	139413262	139413262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:139413262C>A	ENST00000277541.6	-	6	955	c.880G>T	c.(880-882)Gag>Tag	p.E294*	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	294					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCCACATCCTCGGTACAGTAC	0.642			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(880-882)Gag>Tag		notch 1							60.0	65.0	64.0					9																	139413262		2189	4292	6481	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413262C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.880G>T	9.37:g.139413262C>A	ENSP00000277541:p.Glu294*	HNSCC(8;0.001)					p.E294*	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	955	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	294					Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.880G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101833	0.94245	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.3	4.34	0.51931	.	0.051710	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	11.4987	0.50424	0.0:0.9032:0.0:0.0968	.	.	.	.	X	294	.	ENSP00000277541:E294X	E	-	1	0	NOTCH1	138533083	1.000000	0.71417	0.806000	0.32338	0.144000	0.21451	4.784000	0.62411	1.098000	0.41479	0.561000	0.74099	GAG		0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		36	21	1	0	3.09479e-21	1	3.33178e-21	36	21				
STRIP2	57464	broad.mit.edu	37	7	129093089	129093089	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:129093089C>T	ENST00000249344.2	+	5	471	c.431C>T	c.(430-432)tCa>tTa	p.S144L	STRIP2_ENST00000435494.2_Missense_Mutation_p.S144L	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	144					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											GAATGTGATTCAGAGGTCGAT	0.507																																						ENST00000249344.2																			0											c.(430-432)tCa>tTa		striatin interacting protein 2							270.0	222.0	238.0					7																	129093089		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129093089C>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.431C>T	7.37:g.129093089C>T	ENSP00000249344:p.Ser144Leu					STRIP2_ENST00000435494.2_Missense_Mutation_p.S144L	p.S144L	NM_020704.2	NP_065755.1					5	471	+								Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.431C>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500456	0.64298	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.52754	0.66;0.65	5.68	5.68	0.88126	.	0.214675	0.40064	N	0.001190	T	0.56717	0.2004	M	0.62209	1.925	0.45452	D	0.998426	B;B	0.30763	0.085;0.294	B;P	0.44860	0.062;0.462	T	0.58967	-0.7542	10	0.62326	D	0.03	-10.2677	12.263	0.54661	0.1695:0.8305:0.0:0.0	.	144;144	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	L	144	ENSP00000249344:S144L;ENSP00000392393:S144L	ENSP00000249344:S144L	S	+	2	0	FAM40B	128880325	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.461000	0.21940	2.698000	0.92095	0.561000	0.74099	TCA		0.507	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		27	58	0	0	0	1	0	27	58				
INTS9	55756	broad.mit.edu	37	8	28707753	28707753	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:28707753C>T	ENST00000521022.1	-	3	256	c.175G>A	c.(175-177)Gat>Aat	p.D59N	INTS9_ENST00000397363.4_5'UTR|INTS9_ENST00000521777.1_Missense_Mutation_p.D35N|INTS9_ENST00000416984.2_Missense_Mutation_p.D59N	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	59					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GCATTTCCATCCTTCAGGGAC	0.398																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(175-177)Gat>Aat		integrator complex subunit 9							148.0	154.0	152.0					8																	28707753		2203	4300	6503	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28707753C>T	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.175G>A	8.37:g.28707753C>T	ENSP00000429065:p.Asp59Asn					INTS9_ENST00000521777.1_Missense_Mutation_p.D35N|INTS9_ENST00000521022.1_Missense_Mutation_p.D59N|INTS9_ENST00000397363.4_5'UTR	p.D59N	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	3	534	-		Ovarian(32;0.0439)	59					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.175G>A	CCDS34873.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.25|18.25	3.583532|3.583532	0.65992|0.65992	.|.	.|.	ENSG00000104299|ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000521777;ENST00000523436;ENST00000520184|ENST00000524081	T;T;T;T|.	0.49139|.	0.9;0.79;0.87;0.93|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.096230|.	0.64402|.	D|.	0.000001|.	T|T	0.71417|0.71417	0.3337|0.3337	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	B;B;B|.	0.24317|.	0.101;0.035;0.011|.	B;B;B|.	0.19666|.	0.017;0.026;0.023|.	T|T	0.72060|0.72060	-0.4404|-0.4404	10|6	0.31617|0.87932	T|D	0.26|0	-10.0589|-10.0589	18.598|18.598	0.91236|0.91236	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	59;59;59|.	B7Z6M5;G3XAN1;Q9NV88|.	.;.;INT9_HUMAN|.	N|E	59;59;35;59;35|50	ENSP00000429065:D59N;ENSP00000398208:D59N;ENSP00000430943:D35N;ENSP00000427789:D59N|.	ENSP00000398208:D59N|ENSP00000430083:G16E	D|G	-|-	1|2	0|0	INTS9|INTS9	28763672|28763672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.695000|6.695000	0.74593|0.74593	2.902000|2.902000	0.99343|0.99343	0.650000|0.650000	0.86243|0.86243	GAT|GGA		0.398	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		37	96	0	0	0	1	0	37	96				
MAP3K14-AS1	100133991	broad.mit.edu	37	17	43348459	43348459	+	RNA	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:43348459C>T	ENST00000586450.1	+	0	1886				MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000590100.1_RNA					MAP3K14 antisense RNA 1																		GAACTGAGTCCAGGGGTGGCA	0.667											OREG0024479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14							29.0	33.0	32.0					17																	43348459		2137	4240	6377			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43348459C>T	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43348459C>T			OREG0024479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	915					Q99558	M3K14_HUMAN			0	1892	-									RNA	SNP	ENST00000586450.1	37			.	.	.	.	.	.	.	.	.	.	C	28.8	4.949004	0.92660	.	.	ENSG00000006062	ENST00000344686;ENST00000376926	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3752	0.87390	0.0:1.0:0.0:0.0	.	.	.	.	X	595;379	.	ENSP00000342059:W595X	W	-	2	0	MAP3K14	40704242	1.000000	0.71417	0.995000	0.50966	0.840000	0.47671	7.818000	0.86416	2.342000	0.79632	0.462000	0.41574	TGG		0.667	MAP3K14-AS1-010	KNOWN	basic	antisense	antisense	OTTHUMT00000450942.1	NR_024434		11	22	0	0	0	1	0	11	22				
POP4	10775	broad.mit.edu	37	19	30101537	30101537	+	Silent	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:30101537G>A	ENST00000585603.1	+	3	2584	c.282G>A	c.(280-282)caG>caA	p.Q94Q	POP4_ENST00000221770.3_Intron|POP4_ENST00000591824.1_3'UTR|POP4_ENST00000392279.3_Intron			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	94					mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CAGAGCAGCAGAGGTAACCCG	0.582											OREG0025393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(89;1165 1449 14085 34436 43672)	ENST00000585603.1																			0				breast(1)|endometrium(1)|lung(4)	6						c.(280-282)caG>caA		processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)							32.0	34.0	34.0					19																	30101537		2203	4300	6503	SO:0001819	synonymous_variant	10775				mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding	g.chr19:30101537G>A	BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.282G>A	19.37:g.30101537G>A			OREG0025393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	POP4_ENST00000392279.3_Intron|POP4_ENST00000221770.3_Intron|POP4_ENST00000591824.1_3'UTR	p.Q94Q			O95707	RPP29_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)		3	2584	+	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		94					Q5XKL7|Q6FHW9|Q9UQQ3	Silent	SNP	ENST00000585603.1	37	c.282G>A	CCDS12416.1																																																																																				0.582	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458710.1	NM_006627		7	13	0	0	0	1	0	7	13				
FHDC1	85462	broad.mit.edu	37	4	153881969	153881969	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:153881969A>G	ENST00000511601.1	+	6	1011	c.823A>G	c.(823-825)Ata>Gta	p.I275V	FHDC1_ENST00000260008.3_Missense_Mutation_p.I275V			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	275	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ATATACAGATATAACAGTTTT	0.308																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(823-825)Ata>Gta		FH2 domain containing 1							73.0	73.0	73.0					4																	153881969		2201	4300	6501	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153881969A>G	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.823A>G	4.37:g.153881969A>G	ENSP00000427567:p.Ile275Val					FHDC1_ENST00000260008.3_Missense_Mutation_p.I275V	p.I275V			Q9C0D6	FHDC1_HUMAN			6	1011	+	all_hematologic(180;0.093)		275			FH2.			Missense_Mutation	SNP	ENST00000511601.1	37	c.823A>G	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961749	0.74016	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.19250	2.16;2.16	5.9	4.69	0.59074	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.297510	0.45361	N	0.000378	T	0.22003	0.0530	L	0.52759	1.655	0.41076	D	0.98548	B	0.31026	0.304	B	0.33196	0.159	T	0.02431	-1.1160	10	0.39692	T	0.17	.	12.1183	0.53878	0.9324:0.0:0.0676:0.0	.	275	Q9C0D6	FHDC1_HUMAN	V	275	ENSP00000427567:I275V;ENSP00000260008:I275V	ENSP00000260008:I275V	I	+	1	0	FHDC1	154101419	1.000000	0.71417	0.249000	0.24280	0.883000	0.51084	6.106000	0.71511	1.018000	0.39521	0.533000	0.62120	ATA		0.308	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		3	20	0	0	0	1	0	3	20				
EIF6	3692	broad.mit.edu	37	20	33868521	33868521	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr20:33868521G>A	ENST00000374450.3	-	4	569	c.305C>T	c.(304-306)tCa>tTa	p.S102L	EIF6_ENST00000374436.3_Missense_Mutation_p.S102L|MMP24-AS1_ENST00000566203.2_RNA|EIF6_ENST00000462894.1_Intron|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EDEM2_ENST00000540582.1_5'Flank|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000374443.3_Intron	NM_002212.3	NP_002203.1			eukaryotic translation initiation factor 6											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCCAAGGCTGAGAGCCGCTC	0.592																																						ENST00000374450.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9						c.(304-306)tCa>tTa		eukaryotic translation initiation factor 6							180.0	136.0	151.0					20																	33868521		2203	4300	6503	SO:0001583	missense	3692				mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity	g.chr20:33868521G>A	Y11435	CCDS13249.1, CCDS13250.1	20q11.2	2008-01-18	2007-07-27	2007-07-27	ENSG00000242372	ENSG00000242372			6159	protein-coding gene	gene with protein product		602912	"""integrin beta 4 binding protein"""	EIF3A, ITGB4BP		9374518, 9740680	Standard	NM_181468		Approved	p27BBP, b(2)gcn	uc002xbz.2	P56537	OTTHUMG00000032328	ENST00000374450.3:c.305C>T	20.37:g.33868521G>A	ENSP00000363574:p.Ser102Leu					EIF6_ENST00000374436.3_Missense_Mutation_p.S102L|EIF6_ENST00000374443.3_Intron|EIF6_ENST00000462894.1_Intron	p.S102L	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	569	-			102						Missense_Mutation	SNP	ENST00000374450.3	37	c.305C>T	CCDS13249.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397789	0.83120	.	.	ENSG00000242372	ENST00000374436;ENST00000374450;ENST00000456600	.	.	.	4.75	4.75	0.60458	.	0.058123	0.64402	D	0.000001	D	0.90487	0.7020	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94314	0.7548	9	0.87932	D	0	-12.7019	17.1516	0.86779	0.0:0.0:1.0:0.0	.	102	P56537	IF6_HUMAN	L	102	.	ENSP00000363559:S102L	S	-	2	0	EIF6	33331935	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.451000	0.80668	2.387000	0.81309	0.555000	0.69702	TCA		0.592	EIF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078848.3	NM_002212		7	12	0	0	0	1	0	7	12				
CDKN2A	1029	broad.mit.edu	37	9	21971156	21971156	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:21971156C>G	ENST00000304494.5	-	2	472	c.202G>C	c.(202-204)Gcg>Ccg	p.A68P	CDKN2A_ENST00000497750.1_Missense_Mutation_p.A17P|CDKN2A_ENST00000494262.1_Missense_Mutation_p.A17P|CDKN2A_ENST00000579755.1_Missense_Mutation_p.R82P|CDKN2A_ENST00000498628.2_Missense_Mutation_p.A17P|CDKN2A_ENST00000446177.1_Missense_Mutation_p.A68P|CDKN2A_ENST00000498124.1_Missense_Mutation_p.A68P|CDKN2A_ENST00000579122.1_Missense_Mutation_p.A68P|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R123P|CDKN2A_ENST00000479692.2_Missense_Mutation_p.A17P|CDKN2A_ENST00000578845.2_Missense_Mutation_p.A17P|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R82P|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	68			A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> T (in an esophagus tumor).|A -> V. {ECO:0000269|PubMed:8710906}.|Missing (in melanoma; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(45)|p.A68T(5)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.0(1)|p.L64_E69>Q(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TTGGGCTCCGCGCCGTGGAGC	0.706		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1377	Whole gene deletion(1316)|Unknown(45)|Deletion - Frameshift(9)|Substitution - Missense(5)|Deletion - In frame(1)|Complex - deletion inframe(1)	p.0?(1315)|p.?(45)|p.A68T(5)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.0(1)|p.L64_E69>Q(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)	haematopoietic_and_lymphoid_tissue(285)|skin(175)|central_nervous_system(167)|lung(146)|urinary_tract(92)|bone(74)|oesophagus(58)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(244-246)cGc>cCc		cyclin-dependent kinase inhibitor 2A							7.0	9.0	9.0					9																	21971156		2125	4228	6353	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971156C>G	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.202G>C	9.37:g.21971156C>G	ENSP00000307101:p.Ala68Pro	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_Missense_Mutation_p.R82P|CDKN2A_ENST00000446177.1_Missense_Mutation_p.A68P|CDKN2A_ENST00000498124.1_Missense_Mutation_p.A68P|CDKN2A_ENST00000479692.2_Missense_Mutation_p.A17P|CDKN2A_ENST00000498628.2_Missense_Mutation_p.A17P|CDKN2A_ENST00000578845.2_Missense_Mutation_p.A17P|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R123P|CDKN2A_ENST00000304494.5_Missense_Mutation_p.A68P|CDKN2A_ENST00000494262.1_Missense_Mutation_p.A17P|CDKN2A_ENST00000497750.1_Missense_Mutation_p.A17P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.A68P	p.R82P			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	537	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.245G>C	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.61|17.61	3.432641|3.432641	0.62844|0.62844	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	T;T|T;T	0.80738|0.76578	-1.41;-1.41|-1.03;-0.98	5.79|5.79	5.79|5.79	0.91817|0.91817	Ankyrin repeat-containing domain (4);|.	.|0.776504	.|0.11009	.|N	.|0.609699	T|T	0.74390|0.74390	0.3710|0.3710	L|L	0.27053|0.27053	0.805|0.805	0.45378|0.45378	D|D	0.998364|0.998364	D|P	0.89917|0.50710	1.0|0.938	D|P	0.97110|0.46320	1.0|0.512	T|T	0.70974|0.70974	-0.4726|-0.4726	9|9	0.87932|.	D|.	0|.	-11.7644|-11.7644	18.8024|18.8024	0.92023|0.92023	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	68|123	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	P|P	68|123;82	ENSP00000307101:A68P;ENSP00000394932:A68P|ENSP00000355153:R123P;ENSP00000432664:R82P	ENSP00000307101:A68P|.	A|R	-|-	1|2	0|0	CDKN2A|CDKN2A	21961156|21961156	1.000000|1.000000	0.71417|0.71417	0.523000|0.523000	0.27875|0.27875	0.477000|0.477000	0.33069|0.33069	5.076000|5.076000	0.64413|0.64413	2.734000|2.734000	0.93682|0.93682	0.555000|0.555000	0.69702|0.69702	GCG|CGC		0.706	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	12	0	0	0	1	0	6	12				
NKX2-5	1482	broad.mit.edu	37	5	172659656	172659656	+	Silent	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:172659656G>A	ENST00000329198.4	-	2	1164	c.891C>T	c.(889-891)gtC>gtT	p.V297V		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	297					adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCAAGTCCCCGACGCCGAAGT	0.667																																					Esophageal Squamous(72;810 1219 2387 13420 44943)	ENST00000329198.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12						c.(889-891)gtC>gtT		NK2 homeobox 5							31.0	33.0	32.0					5																	172659656		2203	4299	6502	SO:0001819	synonymous_variant	1482				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr5:172659656G>A	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"""Homeoboxes / ANTP class : NKL subclass"""	2488	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	600584	"""cardiac-specific homeo box"", ""NK2 transcription factor related, locus 5 (Drosophila)"""	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.891C>T	5.37:g.172659656G>A							p.V297V	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1164	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	297					A8K3K0|B4DNB6|E9PBU6	Silent	SNP	ENST00000329198.4	37	c.891C>T	CCDS4387.1																																																																																				0.667	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2			10	24	0	0	0	1	0	10	24				
CCNY	219771	broad.mit.edu	37	10	35814905	35814905	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr10:35814905A>T	ENST00000374704.4	+	5	559	c.379A>T	c.(379-381)Ata>Tta	p.I127L	CCNY_ENST00000265375.9_Missense_Mutation_p.I73L|CCNY_ENST00000339497.5_Missense_Mutation_p.I102L|CCNY_ENST00000374706.1_Missense_Mutation_p.I73L|CCNY_ENST00000492478.1_3'UTR	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	127					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						CGCTCTTGCAATATATTATCA	0.348																																						ENST00000374704.4																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(379-381)Ata>Tta		cyclin Y							196.0	182.0	187.0					10																	35814905		2203	4300	6503	SO:0001583	missense	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35814905A>T	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.379A>T	10.37:g.35814905A>T	ENSP00000363836:p.Ile127Leu					CCNY_ENST00000265375.9_Missense_Mutation_p.I73L|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000374706.1_Missense_Mutation_p.I73L|CCNY_ENST00000339497.5_Missense_Mutation_p.I102L	p.I127L	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN			5	559	+			127					B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	ENST00000374704.4	37	c.379A>T	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733770	0.69189	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375	T;T;T;T	0.33865	1.46;1.39;1.48;1.46	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	M	0.64676	1.99	0.80722	D	1	B;B	0.16802	0.018;0.019	B;B	0.23852	0.044;0.049	T	0.17048	-1.0382	10	0.34782	T	0.22	-6.0E-4	15.8246	0.78690	1.0:0.0:0.0:0.0	.	102;127	Q8ND76-2;Q8ND76	.;CCNY_HUMAN	L	73;127;127;102;73	ENSP00000363838:I73L;ENSP00000363836:I127L;ENSP00000344275:I102L;ENSP00000265375:I73L	ENSP00000265375:I73L	I	+	1	0	CCNY	35854911	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.335000	0.96500	2.130000	0.65690	0.455000	0.32223	ATA		0.348	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698		19	30	0	0	0	1	0	19	30				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	49	0	0	0	1	0	5	49				
HIST1H3B	8358	broad.mit.edu	37	6	26031895	26031895	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:26031895G>A	ENST00000244661.2	-	1	393	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	132					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CTTTCTCCGCGAATGCGGCGA	0.478																																						ENST00000244661.2																			0				breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						c.(394-396)Cgc>Tgc		histone cluster 1, H3b							62.0	65.0	64.0					6																	26031895		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26031895G>A	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.394C>T	6.37:g.26031895G>A	ENSP00000244661:p.Arg132Cys						p.R132C	NM_003537.3	NP_003528.1	P68431	H31_HUMAN			1	393	-			132					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.394C>T	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	g	15.69	2.908868	0.52439	.	.	ENSG00000124693	ENST00000244661	T	0.70164	-0.46	5.17	5.17	0.71159	.	.	.	.	.	T	0.74465	0.3720	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.75668	-0.3238	6	0.52906	T	0.07	.	18.0207	0.89253	0.0:0.0:1.0:0.0	.	.	.	.	C	132	ENSP00000244661:R132C	ENSP00000244661:R132C	R	-	1	0	HIST1H3B	26139874	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	9.444000	0.97578	2.545000	0.85829	0.561000	0.74099	CGC		0.478	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		17	43	0	0	0	1	0	17	43				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	56	0	0	0	1	0	4	56				
GDPD3	79153	broad.mit.edu	37	16	30123725	30123725	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr16:30123725C>G	ENST00000406256.3	-	5	762	c.385G>C	c.(385-387)Gac>Cac	p.D129H	MAPK3_ENST00000494643.1_5'Flank|RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	129	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						ATGCGCCGGTCTGACCCGTGA	0.602											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000406256.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.(385-387)Gac>Cac		glycerophosphodiester phosphodiesterase domain containing 3							76.0	76.0	76.0					16																	30123725		2197	4300	6497	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30123725C>G	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.385G>C	16.37:g.30123725C>G	ENSP00000384363:p.Asp129His		OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814		p.D129H	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN			5	762	-			129			GDPD.		Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.385G>C	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439651	0.83885	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.12147	2.71	5.79	5.79	0.91817	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	M	0.75085	2.285	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.05835	-1.0861	10	0.59425	D	0.04	.	15.5223	0.75875	0.0:1.0:0.0:0.0	.	129	Q7L5L3	GDPD3_HUMAN	H	129;67	ENSP00000384363:D129H	ENSP00000353909:D67H	D	-	1	0	GDPD3	30031226	0.999000	0.42202	0.988000	0.46212	0.690000	0.40134	5.200000	0.65158	2.726000	0.93360	0.655000	0.94253	GAC		0.602	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		58	62	0	0	0	1	0	58	62				
KCNK1	3775	broad.mit.edu	37	1	233802462	233802462	+	Silent	SNP	C	C	T	rs143943031		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:233802462C>T	ENST00000366621.3	+	2	645	c.477C>T	c.(475-477)caC>caT	p.H159H	KCNK1_ENST00000366620.1_Silent_p.H43H|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	159					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	TCACCGTGCACGTCACCCGCA	0.592																																						ENST00000366621.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(475-477)caC>caT		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)	C		1,4405	2.1+/-5.4	0,1,2202	171.0	119.0	136.0		477	-3.9	0.9	1	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous	KCNK1	NM_002245.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		159/337	233802462	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233802462C>T	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.477C>T	1.37:g.233802462C>T						KCNK1_ENST00000366620.1_Silent_p.H43H|KCNK1_ENST00000472190.1_3'UTR	p.H159H	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN			2	645	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	159					Q13307|Q5T5E8	Silent	SNP	ENST00000366621.3	37	c.477C>T	CCDS1599.1																																																																																				0.592	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		13	38	0	0	0	1	0	13	38				
PREPL	9581	broad.mit.edu	37	2	44548994	44548994	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:44548994T>C	ENST00000409936.1	-	14	2503	c.2066A>G	c.(2065-2067)aAt>aGt	p.N689S	PREPL_ENST00000541738.1_Missense_Mutation_p.N600S|PREPL_ENST00000409957.1_Missense_Mutation_p.N600S|PREPL_ENST00000409272.1_Missense_Mutation_p.N689S|PREPL_ENST00000378520.3_Missense_Mutation_p.N623S|PREPL_ENST00000378511.3_Missense_Mutation_p.N627S|PREPL_ENST00000409411.1_Missense_Mutation_p.N600S|PREPL_ENST00000260648.6_Missense_Mutation_p.N689S|PREPL_ENST00000410081.1_Missense_Mutation_p.N689S	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	689						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AATTACATGATTGCCTCCAGG	0.383																																						ENST00000541738.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33						c.(1798-1800)aAt>aGt		prolyl endopeptidase-like							103.0	102.0	102.0					2																	44548994		2203	4300	6503	SO:0001583	missense	9581				proteolysis	cytosol	serine-type endopeptidase activity	g.chr2:44548994T>C	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.2066A>G	2.37:g.44548994T>C	ENSP00000386543:p.Asn689Ser					PREPL_ENST00000409272.1_Missense_Mutation_p.N689S|PREPL_ENST00000378520.3_Missense_Mutation_p.N623S|PREPL_ENST00000260648.6_Missense_Mutation_p.N689S|PREPL_ENST00000410081.1_Missense_Mutation_p.N689S|PREPL_ENST00000409936.1_Missense_Mutation_p.N689S|PREPL_ENST00000409957.1_Missense_Mutation_p.N600S|PREPL_ENST00000409411.1_Missense_Mutation_p.N600S|PREPL_ENST00000378511.3_Missense_Mutation_p.N627S	p.N600S	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN			13	2185	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	689					A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	ENST00000409936.1	37	c.1799A>G	CCDS33190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.382|9.382	1.073310|1.073310	0.20147|0.20147	.|.	.|.	ENSG00000138078|ENSG00000138078	ENST00000420756|ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511	.|T;T;T;T;T;T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	4.9|4.9	2.44|2.44	0.29823|0.29823	.|Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	.|0.100339	.|0.64402	.|D	.|0.000003	T|T	0.07638|0.07638	0.0192|0.0192	N|N	0.00182|0.00182	-1.905|-1.905	0.35770|0.35770	D|D	0.820832|0.820832	.|B;B;B	.|0.33022	.|0.394;0.104;0.21	.|B;B;B	.|0.37650	.|0.255;0.122;0.066	T|T	0.11717|0.11717	-1.0576|-1.0576	5|10	.|0.33940	.|T	.|0.23	-20.0145|-20.0145	6.1466|6.1466	0.20289|0.20289	0.0:0.3127:0.0:0.6873|0.0:0.3127:0.0:0.6873	.|.	.|627;623;689	.|Q4J6C6-3;Q4J6C6-2;Q4J6C6	.|.;.;PPCEL_HUMAN	V|S	71|600;600;600;689;689;689;689;623;627	.|ENSP00000439626:N600S;ENSP00000387095:N600S;ENSP00000387241:N600S;ENSP00000386543:N689S;ENSP00000260648:N689S;ENSP00000386909:N689S;ENSP00000386509:N689S;ENSP00000367781:N623S;ENSP00000367772:N627S	.|ENSP00000260648:N689S	I|N	-|-	1|2	0|0	PREPL|PREPL	44402498|44402498	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	0.178000|0.178000	0.16820|0.16820	0.885000|0.885000	0.36088|0.36088	0.482000|0.482000	0.46254|0.46254	ATC|AAT		0.383	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		12	34	0	0	0	1	0	12	34				
C9orf172	389813	broad.mit.edu	37	9	139740915	139740915	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:139740915C>G	ENST00000436881.1	+	1	2049	c.2049C>G	c.(2047-2049)ttC>ttG	p.F683L	PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000545326.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	683										endometrium(2)|large_intestine(1)|lung(6)	9						GCCTCTACTTCAAGTCCTGCC	0.677																																						ENST00000436881.1																			0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(2047-2049)ttC>ttG		chromosome 9 open reading frame 172							24.0	29.0	28.0					9																	139740915		2048	4145	6193	SO:0001583	missense	389813							g.chr9:139740915C>G		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2049C>G	9.37:g.139740915C>G	ENSP00000412388:p.Phe683Leu						p.F683L	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN			1	2049	+			683						Missense_Mutation	SNP	ENST00000436881.1	37	c.2049C>G	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	12.29	1.892867	0.33442	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.17	3.17	0.36434	.	.	.	.	.	T	0.51295	0.1666	M	0.68952	2.095	0.51233	D	0.999912	P	0.45531	0.86	B	0.34301	0.179	T	0.63804	-0.6554	8	0.72032	D	0.01	-11.247	13.5	0.61449	0.0:1.0:0.0:0.0	.	683	C9J069	CI172_HUMAN	L	683	.	ENSP00000412388:F683L	F	+	3	2	C9orf172	138860736	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	2.588000	0.46137	1.600000	0.50102	0.164000	0.16699	TTC		0.677	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		32	56	0	0	0	1	0	32	56				
SULF2	55959	broad.mit.edu	37	20	46307421	46307421	+	Splice_Site	SNP	G	G	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr20:46307421G>T	ENST00000359930.4	-	8	2043	c.1192C>A	c.(1192-1194)Cgg>Agg	p.R398R	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Splice_Site_p.R398R|SULF2_ENST00000484875.1_Splice_Site_p.R398R|SULF2_ENST00000467815.1_Splice_Site_p.R398R	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	398					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CGTCCTCACCGATTCACCGGC	0.622																																						ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.e8+1		sulfatase 2							129.0	127.0	128.0					20																	46307421		2203	4300	6503	SO:0001630	splice_region_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46307421G>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1193+1C>A	20.37:g.46307421G>T						CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Splice_Site_p.R398_splice|SULF2_ENST00000361612.4_Splice_Site_p.R398_splice|SULF2_ENST00000467815.1_Splice_Site_p.R398_splice	p.R398_splice	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			8	2043	-			398					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Splice_Site	SNP	ENST00000359930.4	37	c.1193_splice	CCDS13408.1																																																																																				0.622	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	Silent	67	194	1	0	1.35621e-51	1	1.47334e-51	67	194				
TRAV29DV5	28653	broad.mit.edu	37	14	22631651	22631651	+	RNA	SNP	T	T	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr14:22631651T>G	ENST00000390458.3	+	0	354									T cell receptor alpha variable 29/delta variable 5 (gene/pseudogene)																		CCATTAAGGATAAAAATGAAG	0.403											OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000390458.3																			0																				40.0	40.0	40.0					14																	22631651		1865	4116	5981			28653							g.chr14:22631651T>G	AE000660		14q11.2	2012-02-07	2008-09-12		ENSG00000211810	ENSG00000211810		"""T cell receptors / TRA locus"""	12127	other	T cell receptor gene			"""T cell receptor alpha variable 29/delta variable 5"""			8188290	Standard	NG_001332		Approved	TRAV29/DV5			OTTHUMG00000170658		14.37:g.22631651T>G			OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	757									0	354	+									RNA	SNP	ENST00000390458.3	37																																																																																						0.403	TRAV29DV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409906.1	NG_001332		5	18	0	0	0	1	0	5	18				
PAN3	255967	broad.mit.edu	37	13	28840936	28840936	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr13:28840936A>T	ENST00000380958.3	+	10	1648	c.1496A>T	c.(1495-1497)aAt>aTt	p.N499I	PAN3_ENST00000282391.5_Missense_Mutation_p.N187I|PAN3_ENST00000399613.1_Missense_Mutation_p.N299I	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AAATCAAGTAATTTTGGATAT	0.403																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(895-897)aAt>aTt		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							90.0	89.0	89.0					13																	28840936		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28840936A>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1496A>T	13.37:g.28840936A>T	ENSP00000370345:p.Asn499Ile					PAN3_ENST00000282391.5_Missense_Mutation_p.N187I|PAN3_ENST00000380958.3_Missense_Mutation_p.N499I	p.N299I			Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	9	959	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	499			Interaction with polyadenylate-binding protein.			Missense_Mutation	SNP	ENST00000380958.3	37	c.896A>T	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	16.05	3.011908	0.54468	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.20332	2.08;2.08;2.08	5.41	5.41	0.78517	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.18800	0.0451	N	0.05383	-0.06	0.80722	D	1	B;D;P;D	0.57571	0.064;0.98;0.782;0.974	B;P;B;P	0.53185	0.113;0.72;0.329;0.649	T	0.14896	-1.0456	10	0.22109	T	0.4	-17.9285	15.4453	0.75225	1.0:0.0:0.0:0.0	.	499;499;187;445	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	I	499;299;187	ENSP00000370345:N499I;ENSP00000382522:N299I;ENSP00000282391:N187I	ENSP00000282391:N187I	N	+	2	0	PAN3	27738936	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.306000	0.78905	2.046000	0.60703	0.528000	0.53228	AAT		0.403	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		19	38	0	0	0	1	0	19	38				
KIAA1324	57535	broad.mit.edu	37	1	109730882	109730882	+	Silent	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:109730882G>C	ENST00000369939.3	+	9	1308	c.1125G>C	c.(1123-1125)gtG>gtC	p.V375V	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.V288V	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	375					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CCTCTGGTGTGAAGACCCACT	0.537																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1123-1125)gtG>gtC		KIAA1324							166.0	164.0	165.0					1																	109730882		2203	4300	6503	SO:0001819	synonymous_variant	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109730882G>C	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1125G>C	1.37:g.109730882G>C						KIAA1324_ENST00000529753.1_Silent_p.V288V|KIAA1324_ENST00000369938.1_3'UTR	p.V375V	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	9	1308	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	375					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Silent	SNP	ENST00000369939.3	37	c.1125G>C	CCDS794.1																																																																																				0.537	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		33	117	0	0	0	1	0	33	117				
AGBL1	123624	broad.mit.edu	37	15	86813226	86813226	+	Missense_Mutation	SNP	G	G	A	rs180793760		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr15:86813226G>A	ENST00000441037.2	+	13	1872	c.1777G>A	c.(1777-1779)Ggt>Agt	p.G593S	AGBL1_ENST00000389298.3_Missense_Mutation_p.G324S|AGBL1_ENST00000421325.2_Missense_Mutation_p.G593S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	593					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAAAGTGAGCGGTATGCAGGC	0.498													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18637	0.0		0.0	False		,,,				2504	0.0					ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(1777-1779)Ggt>Agt		ATP/GTP binding protein-like 1							60.0	60.0	60.0					15																	86813226		1945	4164	6109	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86813226G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1777G>A	15.37:g.86813226G>A	ENSP00000413001:p.Gly593Ser					AGBL1_ENST00000389298.3_Missense_Mutation_p.G324S|AGBL1_ENST00000421325.2_Missense_Mutation_p.G593S	p.G593S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			13	1872	+			593					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.1777G>A	CCDS58398.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.52	2.261428	0.39995	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.32272	1.46;1.46	5.65	4.73	0.59995	.	0.376275	0.30101	N	0.010413	T	0.29716	0.0742	L	0.46567	1.45	0.36766	D	0.88354	P;P;P	0.46952	0.846;0.846;0.887	B;B;B	0.41466	0.358;0.358;0.128	T	0.36065	-0.9763	10	0.56958	D	0.05	-26.2698	13.9749	0.64265	0.0736:0.0:0.9264:0.0	.	292;324;593	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	S	622;593;324	ENSP00000397173:G593S;ENSP00000373949:G324S	ENSP00000373949:G324S	G	+	1	0	AGBL1	84614230	1.000000	0.71417	0.992000	0.48379	0.028000	0.11728	4.460000	0.60108	2.663000	0.90544	0.561000	0.74099	GGT		0.498	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		6	14	0	0	0	1	0	6	14				
DCC	1630	broad.mit.edu	37	18	50734082	50734082	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr18:50734082G>A	ENST00000442544.2	+	11	2372	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	DCC_ENST00000412726.1_Missense_Mutation_p.E434K|DCC_ENST00000581580.1_Missense_Mutation_p.E241K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	586	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTATAAACTGGAAGGCCTGAA	0.378																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1756-1758)Gaa>Aaa		deleted in colorectal carcinoma							130.0	139.0	136.0					18																	50734082		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50734082G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1756G>A	18.37:g.50734082G>A	ENSP00000389140:p.Glu586Lys					DCC_ENST00000581580.1_Missense_Mutation_p.E241K|DCC_ENST00000412726.1_Missense_Mutation_p.E434K	p.E586K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	11	2372	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	586			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1756G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773698	0.49786	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.57273	0.41;0.41	5.83	5.83	0.93111	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.129144	0.51477	D	0.000093	T	0.51295	0.1666	L	0.28274	0.84	0.39052	D	0.960358	B;B;P	0.38110	0.404;0.404;0.618	B;B;P	0.44921	0.281;0.281;0.464	T	0.54125	-0.8340	10	0.52906	T	0.07	.	18.8898	0.92395	0.0:0.0:1.0:0.0	.	434;434;586	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	K	586;519;434	ENSP00000389140:E586K;ENSP00000397322:E434K	ENSP00000304146:E519K	E	+	1	0	DCC	48988080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.254000	0.72460	2.775000	0.95449	0.650000	0.86243	GAA		0.378	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		18	38	0	0	0	1	0	18	38				
ALDH2	217	broad.mit.edu	37	12	112227669	112227669	+	Silent	SNP	C	C	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:112227669C>A	ENST00000261733.2	+	5	544	c.483C>A	c.(481-483)atC>atA	p.I161I	ALDH2_ENST00000416293.3_Silent_p.I114I|RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.S158Y	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	161					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	GGAAAACCATCCCCATTGACG	0.522			T	HMGA2	leiomyoma																																	ENST00000546840.2				Dom	yes		12	12q24.2	217		aldehyde dehydrogenase 2 family (mitochondrial)			M					0											c.(472-474)tCc>tAc									111.0	96.0	101.0					12																	112227669		2203	4300	6503	SO:0001819	synonymous_variant	217							g.chr12:112227669C>A	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.483C>A	12.37:g.112227669C>A						ALDH2_ENST00000261733.2_Silent_p.I161I|ALDH2_ENST00000416293.3_Silent_p.I114I	p.S158Y							6	473	+								B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	c.473C>A	CCDS9155.1																																																																																				0.522	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		10	32	1	0	4.68919e-08	1	4.87268e-08	10	32				
CAMKV	79012	broad.mit.edu	37	3	49899497	49899497	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:49899497C>T	ENST00000477224.1	-	3	686	c.208G>A	c.(208-210)Gag>Aag	p.E70K	CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000463537.1_Missense_Mutation_p.E70K|CAMKV_ENST00000488336.1_Missense_Mutation_p.E70K|CAMKV_ENST00000296471.7_Missense_Mutation_p.E70K|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000466940.1_Missense_Mutation_p.E70K			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	70	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ATGCCTATCTCGTTCTTGGCA	0.597																																						ENST00000477224.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(208-210)Gag>Aag		CaM kinase-like vesicle-associated							70.0	74.0	73.0					3																	49899497		2203	4300	6503	SO:0001583	missense	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49899497C>T	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.208G>A	3.37:g.49899497C>T	ENSP00000419195:p.Glu70Lys					CAMKV_ENST00000463537.1_Missense_Mutation_p.E70K|CAMKV_ENST00000296471.7_Missense_Mutation_p.E70K|CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000488336.1_Missense_Mutation_p.E70K|CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000466940.1_Missense_Mutation_p.E70K	p.E70K			Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	3	686	-			70			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	c.208G>A	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980897	0.74474	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000466940	D;D;T;D;D	0.84873	-1.91;-1.91;-0.75;-1.91;-1.91	4.78	4.78	0.61160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43110	D	0.000616	D	0.89536	0.6743	M	0.89287	3.02	0.80722	D	1	P;P;P;P	0.47034	0.867;0.59;0.839;0.889	P;B;B;B	0.44990	0.466;0.07;0.248;0.218	D	0.92226	0.5788	10	0.87932	D	0	.	17.7875	0.88542	0.0:1.0:0.0:0.0	.	70;70;70;70	E7ETR1;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;CAMKV_HUMAN	K	70	ENSP00000296471:E70K;ENSP00000418809:E70K;ENSP00000417614:E70K;ENSP00000419195:E70K;ENSP00000420724:E70K	ENSP00000296471:E70K	E	-	1	0	CAMKV	49874501	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.725000	0.84808	2.375000	0.81037	0.455000	0.32223	GAG		0.597	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		15	8	0	0	0	1	0	15	8				
TOE1	114034	broad.mit.edu	37	1	45808314	45808314	+	Splice_Site	SNP	T	T	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:45808314T>C	ENST00000372090.5	+	6	1334	c.751T>C	c.(751-753)Tgt>Cgt	p.C251R	TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000372100.5_5'Flank|TOE1_ENST00000539779.1_Splice_Site_p.C171R|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000528332.2_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000372110.3_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	251						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CTTCCGGAAATGGTGAGGAAA	0.468																																						ENST00000372090.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11						c.e6+1		target of EGR1, member 1 (nuclear)							134.0	145.0	141.0					1																	45808314		2203	4300	6503	SO:0001630	splice_region_variant	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45808314T>C		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.752+1T>C	1.37:g.45808314T>C						TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Splice_Site_p.C171_splice	p.C251_splice	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN			6	1334	+	Acute lymphoblastic leukemia(166;0.155)		251					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Splice_Site	SNP	ENST00000372090.5	37	c.752_splice	CCDS521.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926898	0.73327	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.34275	1.39;1.37	5.58	5.58	0.84498	Ribonuclease H-like (1);	0.092512	0.85682	D	0.000000	T	0.46190	0.1380	M	0.72118	2.19	0.80722	D	1	P;P	0.49961	0.93;0.93	P;P	0.45913	0.497;0.497	T	0.52845	-0.8521	10	0.72032	D	0.01	-12.3813	15.7616	0.78087	0.0:0.0:0.0:1.0	.	171;251	B4DEM6;Q96GM8	.;TOE1_HUMAN	R	251;171	ENSP00000361162:C251R;ENSP00000438900:C171R	ENSP00000361162:C251R	C	+	1	0	TOE1	45580901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.121000	0.65114	0.533000	0.62120	TGT		0.468	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077	Missense_Mutation	47	138	0	0	0	1	0	47	138				
REG3A	5068	broad.mit.edu	37	2	79386510	79386510	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:79386510G>T	ENST00000409839.3	-	2	58	c.22C>A	c.(22-24)Ccc>Acc	p.P8T	REG3A_ENST00000393878.1_Missense_Mutation_p.P8T|REG3A_ENST00000305165.2_Missense_Mutation_p.P8T|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	8					acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GATACACTGGGCAGGGCCATG	0.532																																						ENST00000393878.1																			0				breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						c.(22-24)Ccc>Acc		regenerating islet-derived 3 alpha							180.0	131.0	148.0					2																	79386510		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79386510G>T	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.22C>A	2.37:g.79386510G>T	ENSP00000386630:p.Pro8Thr					REG3A_ENST00000409839.3_Missense_Mutation_p.P8T|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.P8T	p.P8T	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN			1	276	-			8						Missense_Mutation	SNP	ENST00000409839.3	37	c.22C>A	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	G	4.857	0.159325	0.09236	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.13657	2.57;2.57;2.57	3.87	-0.0989	0.13627	.	1.790780	0.03121	N	0.163745	T	0.09512	0.0234	L	0.31157	0.91	0.09310	N	1	P	0.50066	0.931	B	0.42112	0.376	T	0.28170	-1.0052	10	0.02654	T	1	.	6.7965	0.23729	0.4217:0.0:0.5783:0.0	.	8	Q06141	REG3A_HUMAN	T	8	ENSP00000386630:P8T;ENSP00000377456:P8T;ENSP00000304311:P8T	ENSP00000304311:P8T	P	-	1	0	REG3A	79240018	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	-0.018000	0.12568	-0.031000	0.13781	-0.199000	0.12753	CCC		0.532	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		11	42	1	0	2.27111e-07	1	2.32959e-07	11	42				
SGOL2	151246	broad.mit.edu	37	2	201437151	201437151	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:201437151G>T	ENST00000357799.4	+	7	2180	c.2082G>T	c.(2080-2082)caG>caT	p.Q694H		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	694					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGCAAAAGCAGATCACCAATA	0.363																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2080-2082)caG>caT		shugoshin-like 2 (S. pombe)							72.0	66.0	68.0					2																	201437151		1840	4077	5917	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437151G>T	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2082G>T	2.37:g.201437151G>T	ENSP00000350447:p.Gln694His						p.Q694H	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2180	+			694					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2082G>T	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	8.936	0.964750	0.18583	.	.	ENSG00000163535	ENST00000357799	T	0.13901	2.55	5.25	-2.55	0.06288	.	0.662303	0.13524	N	0.381488	T	0.07863	0.0197	L	0.39085	1.19	0.09310	N	1	B;B;B	0.25743	0.133;0.133;0.133	B;B;B	0.24155	0.051;0.051;0.051	T	0.29212	-1.0019	10	0.51188	T	0.08	0.638	0.9514	0.01376	0.4156:0.1208:0.2182:0.2454	.	694;694;694	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	H	694	ENSP00000350447:Q694H	ENSP00000350447:Q694H	Q	+	3	2	SGOL2	201145396	0.000000	0.05858	0.004000	0.12327	0.125000	0.20455	-0.206000	0.09398	-0.622000	0.05626	-0.291000	0.09656	CAG		0.363	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		14	40	1	0	1.52009e-12	1	1.60045e-12	14	40				
ZNF835	90485	broad.mit.edu	37	19	57175283	57175283	+	Silent	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:57175283G>A	ENST00000537055.2	-	2	1515	c.1284C>T	c.(1282-1284)agC>agT	p.S428S		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S450R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGGAGCCCTGGCTGAAAGCTT	0.672																																						ENST00000537055.2																			1	Substitution - Missense(1)	p.S450R(1)	lung(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(1282-1284)agC>agT		zinc finger protein 835							37.0	40.0	39.0					19																	57175283		2194	4299	6493	SO:0001819	synonymous_variant	90485							g.chr19:57175283G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1284C>T	19.37:g.57175283G>A							p.S428S	NM_001005850.2	NP_001005850.2					2	1515	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.1284C>T	CCDS56105.1																																																																																				0.672	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		12	35	0	0	0	1	0	12	35				
ITGB6	3694	broad.mit.edu	37	2	161029180	161029180	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:161029180G>A	ENST00000283249.2	-	6	1058	c.821C>T	c.(820-822)tCt>tTt	p.S274F	ITGB6_ENST00000428609.2_Missense_Mutation_p.S232F|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.S274F|ITGB6_ENST00000409967.2_Missense_Mutation_p.S274F	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	274	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCCAAAATGAGAATCAGCATC	0.453																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(820-822)tCt>tTt		integrin, beta 6							168.0	156.0	160.0					2																	161029180		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161029180G>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.821C>T	2.37:g.161029180G>A	ENSP00000283249:p.Ser274Phe					ITGB6_ENST00000409872.1_Missense_Mutation_p.S274F|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Missense_Mutation_p.S232F|ITGB6_ENST00000409967.2_Missense_Mutation_p.S274F	p.S274F			P18564	ITB6_HUMAN			6	1058	-			274			VWFA.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.821C>T	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921456	0.92249	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.97924	-4.61;-4.61;-4.61;-4.61	5.49	5.49	0.81192	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	N	0.04768	-0.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91823	0.5469	10	0.02654	T	1	.	19.7273	0.96170	0.0:0.0:1.0:0.0	.	232;274	E9PEE8;P18564	.;ITB6_HUMAN	F	274;232;274;274	ENSP00000283249:S274F;ENSP00000408024:S232F;ENSP00000386828:S274F;ENSP00000386367:S274F	ENSP00000283249:S274F	S	-	2	0	ITGB6	160737426	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.718000	0.92993	0.655000	0.94253	TCT		0.453	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		37	93	0	0	0	1	0	37	93				
CLGN	1047	broad.mit.edu	37	4	141317106	141317106	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:141317106C>T	ENST00000325617.5	-	10	1456	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	CLGN_ENST00000414773.1_Missense_Mutation_p.G339E|CLGN_ENST00000537281.1_Missense_Mutation_p.G339E	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	339	Interaction with PPIB. {ECO:0000250}.				binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTCCCATTCTCCATCCGTGTC	0.398																																						ENST00000325617.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(1015-1017)gGa>gAa		calmegin							86.0	84.0	85.0					4																	141317106		2203	4300	6503	SO:0001583	missense	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141317106C>T	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1016G>A	4.37:g.141317106C>T	ENSP00000326699:p.Gly339Glu					CLGN_ENST00000537281.1_Missense_Mutation_p.G339E|CLGN_ENST00000414773.1_Missense_Mutation_p.G339E	p.G339E	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			10	1456	-	all_hematologic(180;0.162)		339					B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	c.1016G>A	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151355	0.94645	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.78595	-1.19;-1.19;-1.19	5.84	5.84	0.93424	Calreticulin/calnexin, P (2);	0.000000	0.85682	D	0.000000	D	0.89392	0.6702	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89755	0.3943	10	0.87932	D	0	-30.7816	20.1579	0.98126	0.0:1.0:0.0:0.0	.	339	O14967	CLGN_HUMAN	E	339;339;339;256	ENSP00000326699:G339E;ENSP00000392782:G339E;ENSP00000439381:G339E	ENSP00000326699:G339E	G	-	2	0	CLGN	141536556	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.776000	0.85560	2.767000	0.95098	0.555000	0.69702	GGA		0.398	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		13	41	0	0	0	1	0	13	41				
KIAA2026	158358	broad.mit.edu	37	9	5922663	5922663	+	Silent	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:5922663C>G	ENST00000399933.3	-	8	3332	c.3333G>C	c.(3331-3333)gtG>gtC	p.V1111V	KIAA2026_ENST00000381461.2_Silent_p.V1081V	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1111										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TATGCTGAATCACAAAATTCT	0.378																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(3331-3333)gtG>gtC		KIAA2026							118.0	111.0	113.0					9																	5922663		1848	4100	5948	SO:0001819	synonymous_variant	158358							g.chr9:5922663C>G	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3333G>C	9.37:g.5922663C>G						KIAA2026_ENST00000381461.2_Silent_p.V1081V	p.V1111V	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	3332	-		Acute lymphoblastic leukemia(23;0.158)	1111					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.3333G>C																																																																																					0.378	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		20	52	0	0	0	1	0	20	52				
MEX3C	51320	broad.mit.edu	37	18	48723007	48723007	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr18:48723007C>G	ENST00000592416.1	-	1	122	c.123G>C	c.(121-123)aaG>aaC	p.K41N	MEX3C_ENST00000591040.1_Intron			Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C	228					chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		TGTTGACGCTCTTTCTCCGGA	0.731																																						ENST00000592416.1																			0				endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17						c.(121-123)aaG>aaC		mex-3 RNA binding family member C							16.0	12.0	13.0					18																	48723007		2176	4256	6432	SO:0001583	missense	51320					cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr18:48723007C>G	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000592416.1:c.123G>C	18.37:g.48723007C>G	ENSP00000468078:p.Lys41Asn					MEX3C_ENST00000591040.1_Intron	p.K41N			Q5U5Q3	MEX3C_HUMAN		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)	1	122	-		Colorectal(6;0.003)|all_epithelial(6;0.0473)	228					A1L022|Q9NZE3	Missense_Mutation	SNP	ENST00000592416.1	37	c.123G>C		.	.	.	.	.	.	.	.	.	.	C	18.19	3.568432	0.65651	.	.	ENSG00000176624	ENST00000406189	T	0.37584	1.19	3.22	3.22	0.36961	.	0.000000	0.85682	U	0.000000	T	0.38799	0.1054	L	0.49126	1.545	0.47037	D	0.999293	D	0.59357	0.985	P	0.48189	0.57	T	0.43081	-0.9413	10	0.87932	D	0	-6.6907	12.2829	0.54774	0.0:1.0:0.0:0.0	.	228	Q5U5Q3	MEX3C_HUMAN	N	228	ENSP00000385610:K228N	ENSP00000385610:K228N	K	-	3	2	MEX3C	46977005	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.684000	0.37649	1.803000	0.52742	0.305000	0.20034	AAG		0.731	MEX3C-002	PUTATIVE	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000449560.1	NM_016626		4	7	0	0	0	1	0	4	7				
KIF13A	63971	broad.mit.edu	37	6	17796915	17796915	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:17796915C>T	ENST00000259711.6	-	23	3032	c.2927G>A	c.(2926-2928)aGa>aAa	p.R976K	KIF13A_ENST00000378814.5_Missense_Mutation_p.R976K|KIF13A_ENST00000378816.5_Missense_Mutation_p.R976K|KIF13A_ENST00000378843.2_Missense_Mutation_p.R976K|KIF13A_ENST00000378826.2_Missense_Mutation_p.R976K	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	976					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATGCAGTGTTCTTGTCTTAGC	0.498																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2926-2928)aGa>aAa		kinesin family member 13A							148.0	141.0	144.0					6																	17796915		1924	4130	6054	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17796915C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2927G>A	6.37:g.17796915C>T	ENSP00000259711:p.Arg976Lys					KIF13A_ENST00000378843.2_Missense_Mutation_p.R976K|KIF13A_ENST00000259711.6_Missense_Mutation_p.R976K|KIF13A_ENST00000378826.2_Missense_Mutation_p.R976K|KIF13A_ENST00000378816.5_Missense_Mutation_p.R976K	p.R976K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		23	2926	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	976					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.2927G>A	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.20|15.20	2.763637|2.763637	0.49574|0.49574	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044	.|T;T;T;T;T	.|0.71222	.|-0.55;-0.55;-0.55;-0.55;-0.55	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.105548	.|0.64402	.|D	.|0.000005	T|T	0.49133|0.49133	0.1539|0.1539	L|L	0.31371|0.31371	0.925|0.925	0.41380|0.41380	D|D	0.987541|0.987541	.|B;B;B;B	.|0.22003	.|0.039;0.063;0.048;0.063	.|B;B;B;B	.|0.24394	.|0.053;0.02;0.049;0.04	T|T	0.46261|0.46261	-0.9204|-0.9204	5|10	.|0.29301	.|T	.|0.29	.|.	18.7771|18.7771	0.91915|0.91915	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|976;976;976;976	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	K|K	370|976;976;976;976;976;36	.|ENSP00000368091:R976K;ENSP00000259711:R976K;ENSP00000368103:R976K;ENSP00000368120:R976K;ENSP00000368093:R976K	.|ENSP00000259711:R976K	E|R	-|-	1|2	0|0	KIF13A|KIF13A	17904894|17904894	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.990000|0.990000	0.78478|0.78478	4.693000|4.693000	0.61753|0.61753	2.494000|2.494000	0.84150|0.84150	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.498	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			39	101	0	0	0	1	0	39	101				
PDE4DIP	9659	broad.mit.edu	37	1	144879176	144879176	+	Missense_Mutation	SNP	C	C	T	rs145464352		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:144879176C>T	ENST00000369354.3	-	27	4463	c.4274G>A	c.(4273-4275)gGg>gAg	p.G1425E	AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.G1425E|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.G1561E|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.G1381E|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G1561E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1425					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTAGAAAGCCCCAGTGCCATC	0.552			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4681-4683)gGg>gAg		phosphodiesterase 4D interacting protein		C	GLU/GLY,GLU/GLY,GLU/GLY	0,4406		0,0,2203	92.0	98.0	96.0		4142,4274,4274	5.0	1.0	1	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PDE4DIP	NM_001198832.1,NM_001198834.2,NM_014644.4	98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1381/2241,1425/2363,1425/2347	144879176	1,13005	2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879176C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4274G>A	1.37:g.144879176C>T	ENSP00000358360:p.Gly1425Glu					PDE4DIP_ENST00000369354.3_Missense_Mutation_p.G1425E|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.G1381E|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G1561E|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.G1425E	p.G1561E			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4720	-			1425			NBPF.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4682G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649669	0.67358	0.0	1.16E-4	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01933	4.55;4.67;4.65;4.65;4.67	5.02	5.02	0.67125	.	.	.	.	.	T	0.06554	0.0168	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.988;1.0	D;D	0.91635	0.909;0.999	T	0.39623	-0.9605	9	0.36615	T	0.2	.	15.8913	0.79299	0.0:1.0:0.0:0.0	.	1381;1425	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	E	1381;1425;1425;1561;1561	ENSP00000327209:G1381E;ENSP00000358360:G1425E;ENSP00000358363:G1425E;ENSP00000435654:G1561E;ENSP00000358366:G1561E	ENSP00000327209:G1381E	G	-	2	0	PDE4DIP	143590533	0.981000	0.34729	1.000000	0.80357	0.966000	0.64601	4.822000	0.62686	2.616000	0.88540	0.591000	0.81541	GGG		0.552	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		7	89	0	0	0	1	0	7	89				
MYL10	93408	broad.mit.edu	37	7	101266313	101266313	+	Missense_Mutation	SNP	C	C	T	rs373940709		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:101266313C>T	ENST00000223167.4	-	4	490	c.313G>A	c.(313-315)Gac>Aac	p.D105N		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	105	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TCCTCTTTGTCGATGAAGCCA	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17099	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(24;575 709 17516 40384 51639)	ENST00000223167.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						c.(313-315)Gac>Aac		myosin, light chain 10, regulatory							123.0	82.0	96.0					7																	101266313		2203	4300	6503	SO:0001583	missense	93408					mitochondrion	calcium ion binding	g.chr7:101266313C>T	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.313G>A	7.37:g.101266313C>T	ENSP00000223167:p.Asp105Asn						p.D105N	NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN			4	490	-			105			EF-hand 1.			Missense_Mutation	SNP	ENST00000223167.4	37	c.313G>A	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351930	0.61183	.	.	ENSG00000106436	ENST00000223167	T	0.74421	-0.84	4.88	4.0	0.46444	EF-hand-like domain (1);	0.381287	0.23139	N	0.051484	D	0.82917	0.5141	M	0.76002	2.32	0.52501	D	0.999955	D	0.57257	0.979	P	0.61328	0.887	D	0.83516	0.0083	10	0.52906	T	0.07	.	12.2715	0.54708	0.0:0.9156:0.0:0.0844	.	105	Q9BUA6	MYL10_HUMAN	N	105	ENSP00000223167:D105N	ENSP00000223167:D105N	D	-	1	0	MYL10	101053033	1.000000	0.71417	0.825000	0.32803	0.373000	0.29922	5.594000	0.67557	1.181000	0.42912	0.655000	0.94253	GAC		0.627	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		11	39	0	0	0	1	0	11	39				
INTS6-AS1	100507398	broad.mit.edu	37	13	52034950	52034950	+	RNA	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr13:52034950G>A	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000593672.1_RNA					INTS6 antisense RNA 1																		CAAGACAGAAGAGAATTTCTC	0.408																																						ENST00000594959.1																			0																																																			100507398							g.chr13:52034950G>A	AA397528		13q14.3	2012-10-12	2012-08-15		ENSG00000236778	ENSG00000236778		"""Long non-coding RNAs"""	42691	non-coding RNA	RNA, long non-coding			"""INTS6 antisense RNA 1 (non-protein coding)"""				Standard	NR_103812		Approved				OTTHUMG00000016944		13.37:g.52034950G>A						INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000593709.1_RNA								0	411	+									RNA	SNP	ENST00000594959.1	37																																																																																						0.408	INTS6-AS1-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462289.1			3	21	0	0	0	1	0	3	21				
AWAT2	158835	broad.mit.edu	37	X	69264203	69264203	+	Splice_Site	SNP	T	T	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:69264203T>A	ENST00000276101.3	-	2	200	c.195A>T	c.(193-195)cgA>cgT	p.R65R		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	65					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GATGCTTACCTCGCTGAGGGG	0.532																																					NSCLC(80;1334 1436 9350 24214 26427)	ENST00000276101.3																			0				endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						c.e2+1		acyl-CoA wax alcohol acyltransferase 2							90.0	66.0	74.0					X																	69264203		2203	4300	6503	SO:0001630	splice_region_variant	158835					endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69264203T>A	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.196+1A>T	X.37:g.69264203T>A							p.R65_splice	NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN			2	200	-			65					Q6IEE3|Q6P437	Splice_Site	SNP	ENST00000276101.3	37	c.196_splice	CCDS35320.1																																																																																				0.532	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254	Silent	16	6	0	0	0	1	0	16	6				
PNMAL1	55228	broad.mit.edu	37	19	46973715	46973715	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:46973715C>T	ENST00000313683.10	-	2	883	c.578G>A	c.(577-579)gGg>gAg	p.G193E	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.G193E	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	193										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CACCTTCCTCCCTGCTGCTAA	0.592																																						ENST00000313683.10																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(577-579)gGg>gAg		paraneoplastic Ma antigen family-like 1							61.0	64.0	63.0					19																	46973715		2203	4300	6503	SO:0001583	missense	55228							g.chr19:46973715C>T	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.578G>A	19.37:g.46973715C>T	ENSP00000318131:p.Gly193Glu					PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.G193E	p.G193E	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	883	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	193					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	c.578G>A	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417758	0.25552	.	.	ENSG00000182013	ENST00000438932;ENST00000313683	T;T	0.08807	3.05;3.05	3.84	-0.724	0.11177	.	0.689461	0.12719	N	0.444863	T	0.04907	0.0132	L	0.44542	1.39	0.09310	N	1	B;B	0.22909	0.077;0.077	B;B	0.18263	0.021;0.021	T	0.45396	-0.9264	10	0.02654	T	1	-19.968	3.7765	0.08661	0.0:0.5006:0.1838:0.3156	.	193;193	Q86V59-2;Q86V59	.;PNML1_HUMAN	E	193	ENSP00000410273:G193E;ENSP00000318131:G193E	ENSP00000318131:G193E	G	-	2	0	PNMAL1	51665555	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.290000	0.18975	-0.017000	0.14103	0.655000	0.94253	GGG		0.592	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		21	82	0	0	0	1	0	21	82				
AHNAK	79026	broad.mit.edu	37	11	62294399	62294399	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:62294399T>C	ENST00000378024.4	-	5	7764	c.7490A>G	c.(7489-7491)aAt>aGt	p.N2497S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2497					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCGGGGGCATTTACATCAAC	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7489-7491)aAt>aGt		AHNAK nucleoprotein							153.0	156.0	155.0					11																	62294399		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294399T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7490A>G	11.37:g.62294399T>C	ENSP00000367263:p.Asn2497Ser					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.N2497S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7764	-		Melanoma(852;0.155)	2497					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7490A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	0.012	-1.688144	0.00738	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00675	5.88	4.36	0.445	0.16597	.	.	.	.	.	T	0.00666	0.0022	N	0.25789	0.76	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.45011	-0.9290	9	0.20519	T	0.43	.	5.8681	0.18789	0.0:0.1596:0.138:0.7024	.	2497	Q09666	AHNK_HUMAN	S	586;2497	ENSP00000367263:N2497S	ENSP00000244934:N586S	N	-	2	0	AHNAK	62050975	0.028000	0.19301	0.002000	0.10522	0.131000	0.20780	1.861000	0.39438	0.090000	0.17273	0.449000	0.29647	AAT		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		53	122	0	0	0	1	0	53	122				
STXBP5L	9515	broad.mit.edu	37	3	121097619	121097619	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:121097619C>T	ENST00000273666.6	+	22	2576	c.2305C>T	c.(2305-2307)Cgt>Tgt	p.R769C	STXBP5L_ENST00000492541.1_Missense_Mutation_p.R769C|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R745C|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R745C	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	769					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTCTGGAAAACGTCTTTCTAG	0.463																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2305-2307)Cgt>Tgt		syntaxin binding protein 5-like							62.0	58.0	59.0					3																	121097619		1874	4103	5977	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121097619C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2305C>T	3.37:g.121097619C>T	ENSP00000273666:p.Arg769Cys					STXBP5L_ENST00000492541.1_Missense_Mutation_p.R769C|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R745C|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R745C	p.R769C	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	22	2576	+			769					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2305C>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306250	0.60305	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000492541	T;T;T;T	0.64085	1.52;-0.08;-0.08;-0.08	5.07	5.07	0.68467	.	0.254461	0.39210	N	0.001434	T	0.64382	0.2593	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	P;P	0.51806	0.68;0.586	T	0.68194	-0.5473	10	0.62326	D	0.03	-11.9652	17.7945	0.88565	0.0:1.0:0.0:0.0	.	745;769	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	C	769;745;745;769	ENSP00000273666:R769C;ENSP00000420019:R745C;ENSP00000419627:R745C;ENSP00000420666:R769C	ENSP00000273666:R769C	R	+	1	0	STXBP5L	122580309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.394000	0.66285	2.514000	0.84764	0.585000	0.79938	CGT		0.463	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			8	15	0	0	0	1	0	8	15				
MYOF	26509	broad.mit.edu	37	10	95169470	95169470	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr10:95169470C>T	ENST00000359263.4	-	6	459	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	MYOF_ENST00000371489.1_Missense_Mutation_p.E154K|MYOF_ENST00000358334.5_Missense_Mutation_p.E154K|MYOF_ENST00000371502.4_Missense_Mutation_p.E154K|MYOF_ENST00000371501.4_Missense_Mutation_p.E154K	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	154					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AACCTGTCTTCATCACCTTCA	0.517																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(460-462)Gaa>Aaa		myoferlin							228.0	224.0	225.0					10																	95169470		1929	4124	6053	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95169470C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.460G>A	10.37:g.95169470C>T	ENSP00000352208:p.Glu154Lys					MYOF_ENST00000359263.4_Missense_Mutation_p.E154K|MYOF_ENST00000358334.5_Missense_Mutation_p.E154K|MYOF_ENST00000371502.4_Missense_Mutation_p.E154K|MYOF_ENST00000371489.1_Missense_Mutation_p.E154K	p.E154K			Q9NZM1	MYOF_HUMAN			6	582	-			154					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.460G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703952	0.68501	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.55	5.25	4.33	0.51752	.	0.245405	0.41396	D	0.000893	T	0.78672	0.4320	L	0.60455	1.87	0.36545	D	0.87151	B;B;B	0.33940	0.433;0.001;0.054	B;B;B	0.32980	0.156;0.006;0.031	T	0.80529	-0.1342	10	0.31617	T	0.26	-20.95	12.6027	0.56506	0.0:0.921:0.0:0.079	.	136;154;154	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	K	154	ENSP00000351094:E154K;ENSP00000352208:E154K;ENSP00000360556:E154K;ENSP00000360557:E154K;ENSP00000360544:E154K	ENSP00000351094:E154K	E	-	1	0	MYOF	95159460	0.998000	0.40836	0.178000	0.23040	0.545000	0.35147	5.654000	0.67974	2.480000	0.83734	0.442000	0.29010	GAA		0.517	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		80	237	0	0	0	1	0	80	237				
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs77504727		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:32725567C>T	ENST00000437316.2	-	4	803	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	251					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(739-741)cGt>cAt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725567C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.740G>A	6.37:g.32725567C>T	ENSP00000396330:p.Arg247His					HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H	p.R247H			Q5SR06	Q5SR06_HUMAN			4	801	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.740G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.431383	0.00184	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00625	6.17;6.14	3.25	-3.63	0.04529	.	0.752796	0.12134	N	0.496536	T	0.00210	0.0006	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.25502	-1.0130	9	0.41790	T	0.15	.	9.6955	0.40154	0.0:0.4123:0.0:0.5877	rs34134876	247	A2ADX3	.	H	247	ENSP00000396330:R247H;ENSP00000410512:R247H	ENSP00000410512:R247H	R	-	2	0	HLA-DQB2	32833545	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	-1.557000	0.02166	-0.833000	0.04245	-1.855000	0.00564	CGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			5	16	0	0	0	1	0	5	16				
PKHD1	5314	broad.mit.edu	37	6	51612982	51612982	+	Silent	SNP	G	G	A	rs529459722		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:51612982G>A	ENST00000371117.3	-	58	9707	c.9432C>T	c.(9430-9432)atC>atT	p.I3144I	PKHD1_ENST00000340994.4_Silent_p.I3144I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3144					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGAAGCCAGAGATTCTGGTAC	0.433																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9430-9432)atC>atT		polycystic kidney and hepatic disease 1 (autosomal recessive)							182.0	193.0	189.0					6																	51612982		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51612982G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9432C>T	6.37:g.51612982G>A						PKHD1_ENST00000340994.4_Silent_p.I3144I	p.I3144I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9707	-	Lung NSC(77;0.0605)		3144					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.9432C>T	CCDS4935.1																																																																																				0.433	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		63	144	0	0	0	1	0	63	144				
DCLK1	9201	broad.mit.edu	37	13	36686199	36686199	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr13:36686199C>T	ENST00000360631.3	-	3	741	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	DCLK1_ENST00000255448.4_Missense_Mutation_p.R177Q|DCLK1_ENST00000379892.4_Missense_Mutation_p.R177Q			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	177					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTATTCTCTCGCACCTCTGA	0.532																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(529-531)cGa>cAa		doublecortin-like kinase 1							130.0	125.0	127.0					13																	36686199		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36686199C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.530G>A	13.37:g.36686199C>T	ENSP00000353846:p.Arg177Gln					DCLK1_ENST00000360631.3_Missense_Mutation_p.R177Q|DCLK1_ENST00000379892.4_Missense_Mutation_p.R177Q	p.R177Q	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	3	741	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	177					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.530G>A		.	.	.	.	.	.	.	.	.	.	C	16.90	3.248744	0.59103	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.93366	-3.21;-3.21;-3.21	5.65	4.81	0.61882	.	0.107107	0.64402	D	0.000020	D	0.87822	0.6274	L	0.43701	1.375	0.37750	D	0.925922	P	0.49783	0.928	B	0.39465	0.3	D	0.86624	0.1881	10	0.36615	T	0.2	.	6.9409	0.24492	0.0:0.7098:0.0:0.2902	.	177	O15075-2	.	Q	177	ENSP00000255448:R177Q;ENSP00000353846:R177Q;ENSP00000369222:R177Q	ENSP00000255448:R177Q	R	-	2	0	DCLK1	35584199	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	2.598000	0.46223	1.533000	0.49186	0.650000	0.86243	CGA		0.532	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		29	69	0	0	0	1	0	29	69				
EYS	346007	broad.mit.edu	37	6	66112497	66112497	+	Splice_Site	SNP	T	T	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:66112497T>A	ENST00000370621.3	-	7	1584	c.1058A>T	c.(1057-1059)gAt>gTt	p.D353V	EYS_ENST00000393380.2_Splice_Site_p.D353V|EYS_ENST00000370618.3_Splice_Site_p.D353V|EYS_ENST00000370616.2_Splice_Site_p.D353V|EYS_ENST00000342421.5_Splice_Site_p.D353V|EYS_ENST00000503581.1_Splice_Site_p.D353V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	353	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCACATAACATCCTAGGAAAG	0.303																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.e7-1		eyes shut homolog (Drosophila)							46.0	47.0	46.0					6																	66112497		2201	4281	6482	SO:0001630	splice_region_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66112497T>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1057-1A>T	6.37:g.66112497T>A						EYS_ENST00000370616.2_Splice_Site_p.D353_splice|EYS_ENST00000370618.3_Splice_Site_p.D353_splice|EYS_ENST00000370621.3_Splice_Site_p.D353_splice|EYS_ENST00000342421.5_Splice_Site_p.D353_splice|EYS_ENST00000393380.2_Splice_Site_p.D353_splice	p.D353_splice	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			7	1595	-			353			EGF-like 4.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Splice_Site	SNP	ENST00000370621.3	37	c.1056_splice		.	.	.	.	.	.	.	.	.	.	T	5.520	0.280918	0.10458	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	4.1	1.68	0.24146	.	.	.	.	.	T	0.80717	0.4676	M	0.63169	1.94	0.80722	D	1	D;D;D	0.61080	0.971;0.989;0.982	P;P;P	0.61722	0.714;0.893;0.785	T	0.78435	-0.2205	9	0.56958	D	0.05	.	6.5231	0.22287	0.0:0.1912:0.0:0.8088	.	353;353;353	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	353	ENSP00000424243:D353V;ENSP00000359655:D353V;ENSP00000359650:D353V;ENSP00000377042:D353V;ENSP00000341818:D353V;ENSP00000359652:D353V	ENSP00000341818:D353V	D	-	2	0	EYS	66169218	0.966000	0.33281	0.005000	0.12908	0.023000	0.10783	0.838000	0.27572	0.066000	0.16515	0.482000	0.46254	GAT		0.303	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	Missense_Mutation	10	22	0	0	0	1	0	10	22				
INTS7	25896	broad.mit.edu	37	1	212118259	212118259	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:212118259T>C	ENST00000366994.3	-	19	2572	c.2468A>G	c.(2467-2469)aAt>aGt	p.N823S	INTS7_ENST00000366992.3_Missense_Mutation_p.N803S|INTS7_ENST00000440600.2_Missense_Mutation_p.N774S|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.N809S	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	823					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTGCTGGTTATTCTGGACAGC	0.502																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2467-2469)aAt>aGt		integrator complex subunit 7							97.0	90.0	92.0					1																	212118259		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212118259T>C	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2468A>G	1.37:g.212118259T>C	ENSP00000355961:p.Asn823Ser					INTS7_ENST00000366993.3_Missense_Mutation_p.N809S|INTS7_ENST00000366992.3_Missense_Mutation_p.N803S|INTS7_ENST00000440600.2_Missense_Mutation_p.N774S|INTS7_ENST00000469606.1_5'UTR	p.N823S	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	19	2572	-			823					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.2468A>G	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	T	3.869	-0.028286	0.07589	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.41758	1.0;1.03;1.01;0.99	5.49	2.01	0.26516	.	0.279927	0.45126	N	0.000399	T	0.12902	0.0313	N	0.01705	-0.755	0.48571	D	0.999678	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.0;0.0	T	0.28459	-1.0043	10	0.02654	T	1	-17.7129	7.8745	0.29586	0.0:0.3053:0.0:0.6947	.	774;803;809;823	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	S	823;809;803;774	ENSP00000355961:N823S;ENSP00000355960:N809S;ENSP00000355959:N803S;ENSP00000388908:N774S	ENSP00000355959:N803S	N	-	2	0	INTS7	210184882	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	1.561000	0.36342	0.411000	0.25702	0.533000	0.62120	AAT		0.502	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		18	40	0	0	0	1	0	18	40				
CDH24	64403	broad.mit.edu	37	14	23523379	23523379	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr14:23523379C>T	ENST00000267383.5	-	5	1035	c.943G>A	c.(943-945)Ggt>Agt	p.G315S	CDH24_ENST00000554034.1_Missense_Mutation_p.G315S|CDH24_ENST00000487137.2_Missense_Mutation_p.G315S|CDH24_ENST00000397359.3_Missense_Mutation_p.G315S			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	315	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCGTCTCGACCCTGCAAGTCT	0.597																																						ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(943-945)Ggt>Agt		cadherin 24, type 2							99.0	90.0	93.0					14																	23523379		2202	4300	6502	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23523379C>T	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.943G>A	14.37:g.23523379C>T	ENSP00000267383:p.Gly315Ser					CDH24_ENST00000487137.2_Missense_Mutation_p.G315S|CDH24_ENST00000267383.5_Missense_Mutation_p.G315S|CDH24_ENST00000554034.1_Missense_Mutation_p.G315S	p.G315S	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	1202	-	all_cancers(95;3.3e-05)		315			Cadherin 3.		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.943G>A	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900569	0.72754	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	0.192020	0.45361	D	0.000371	T	0.40956	0.1138	N	0.02011	-0.69	0.39935	D	0.974348	D;P;D	0.60160	0.981;0.77;0.987	P;P;P	0.62649	0.781;0.593;0.905	T	0.59804	-0.7385	10	0.44086	T	0.13	.	16.7125	0.85389	0.0:1.0:0.0:0.0	.	315;315;315	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	S	315	ENSP00000380517:G315S;ENSP00000434821:G315S;ENSP00000452493:G315S;ENSP00000267383:G315S	ENSP00000267383:G315S	G	-	1	0	CDH24	22593219	0.124000	0.22315	0.998000	0.56505	0.972000	0.66771	1.708000	0.37899	2.469000	0.83416	0.655000	0.94253	GGT		0.597	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		42	93	0	0	0	1	0	42	93				
PCNT	5116	broad.mit.edu	37	21	47863722	47863722	+	Splice_Site	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr21:47863722G>C	ENST00000359568.5	+	45	9807		c.e45-1		PCNT_ENST00000480896.1_Splice_Site	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin						brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTCTGGGGAAGGGCCCCGAGC	0.507																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.e45-1		pericentrin							60.0	74.0	69.0					21																	47863722		2203	4300	6503	SO:0001630	splice_region_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47863722G>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9701-1G>C	21.37:g.47863722G>C						PCNT_ENST00000480896.1_Splice_Site		NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			45	9807	+	Breast(49;0.112)							O43152|Q7Z7C9	Splice_Site	SNP	ENST00000359568.5	37		CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285429	0.23478	.	.	ENSG00000160299	ENST00000359568	.	.	.	5.0	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.50039	D	0.99984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3753	0.32440	0.1029:0.0:0.8971:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCNT	46688150	0.849000	0.29639	0.150000	0.22450	0.033000	0.12548	2.541000	0.45735	2.698000	0.92095	0.655000	0.94253	.		0.507	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	Intron	16	74	0	0	0	1	0	16	74				
FAT1	2195	broad.mit.edu	37	4	187540475	187540475	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:187540475A>T	ENST00000441802.2	-	10	7474	c.7265T>A	c.(7264-7266)aTa>aAa	p.I2422K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2422	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAACTTGTCTATGTCTGAACT	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7264-7266)aTa>aAa		FAT atypical cadherin 1							79.0	81.0	81.0					4																	187540475		2011	4178	6189	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540475A>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7265T>A	4.37:g.187540475A>T	ENSP00000406229:p.Ile2422Lys	HNSCC(5;0.00058)					p.I2422K	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7474	-			2422			Cadherin 22.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7265T>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	2.547	-0.304911	0.05495	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.49720	0.77	5.24	-2.63	0.06133	Cadherin (4);Cadherin-like (1);	1.335610	0.04814	N	0.435668	T	0.20659	0.0497	N	0.01668	-0.77	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.21690	-1.0238	10	0.49607	T	0.09	.	7.5703	0.27904	0.3849:0.1214:0.4937:0.0	.	2422	Q14517	FAT1_HUMAN	K	2422;2424	ENSP00000406229:I2422K	ENSP00000260147:I2424K	I	-	2	0	FAT1	187777469	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	0.040000	0.13905	-0.446000	0.07149	0.528000	0.53228	ATA		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		15	37	0	0	0	1	0	15	37				
HECTD1	25831	broad.mit.edu	37	14	31581693	31581693	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr14:31581693G>T	ENST00000399332.1	-	35	6695	c.6207C>A	c.(6205-6207)agC>agA	p.S2069R	HECTD1_ENST00000553700.1_Missense_Mutation_p.S2069R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2069	K-box.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAGGACATTTGCTGGTTAATT	0.388																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(6205-6207)agC>agA		HECT domain containing E3 ubiquitin protein ligase 1							67.0	64.0	65.0					14																	31581693		1878	4106	5984	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31581693G>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6207C>A	14.37:g.31581693G>T	ENSP00000382269:p.Ser2069Arg					HECTD1_ENST00000553700.1_Missense_Mutation_p.S2069R	p.S2069R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	35	6695	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2069			K-box.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.6207C>A	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.318689|2.318689	0.40996|0.40996	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332	.|T;T	.|0.41065	.|1.01;1.01	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.197178	.|0.40469	.|U	.|0.001096	T|T	0.29028|0.29028	0.0721|0.0721	N|N	0.11000|0.11000	0.08|0.08	0.80722|0.80722	D|D	1|1	.|B	.|0.34015	.|0.435	.|B	.|0.38803	.|0.282	T|T	0.07385|0.07385	-1.0775|-1.0775	5|10	.|0.06236	.|T	.|0.91	-7.9306|-7.9306	20.1931|20.1931	0.98233|0.98233	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2069	.|Q9ULT8	.|HECD1_HUMAN	E|R	435|2069;2071;2069	.|ENSP00000450697:S2069R;ENSP00000382269:S2069R	.|ENSP00000261312:S2071R	A|S	-|-	2|3	0|2	HECTD1|HECTD1	30651444|30651444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.476000|9.476000	0.97823|0.97823	2.771000|2.771000	0.95319|0.95319	0.563000|0.563000	0.77884|0.77884	GCA|AGC		0.388	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			14	23	1	0	6.72482e-11	1	7.04927e-11	14	23				
STX11	8676	broad.mit.edu	37	6	144508214	144508214	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:144508214G>T	ENST00000367568.4	+	2	633	c.450G>T	c.(448-450)gaG>gaT	p.E150D		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	150					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		ACCAGGCCGAGATGAAGCAGC	0.637									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(448-450)gaG>gaT		syntaxin 11							46.0	42.0	43.0					6																	144508214		2203	4300	6503	SO:0001583	missense	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508214G>T	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.450G>T	6.37:g.144508214G>T	ENSP00000356540:p.Glu150Asp						p.E150D	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	633	+			150					E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.450G>T	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964397	0.74131	.	.	ENSG00000135604	ENST00000367568	T	0.24151	1.87	5.61	5.61	0.85477	t-SNARE (1);Syntaxin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	M	0.65975	2.015	0.50171	D	0.999854	D	0.76494	0.999	D	0.66196	0.942	T	0.12192	-1.0557	10	0.54805	T	0.06	-40.4075	13.5535	0.61747	0.0752:0.0:0.9248:0.0	.	150	O75558	STX11_HUMAN	D	150	ENSP00000356540:E150D	ENSP00000356540:E150D	E	+	3	2	STX11	144549907	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.249000	0.51437	2.631000	0.89168	0.655000	0.94253	GAG		0.637	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			15	32	1	0	1.15088e-07	1	1.1856e-07	15	32				
ZNF91	7644	broad.mit.edu	37	19	23543545	23543545	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:23543545C>T	ENST00000300619.7	-	4	2441	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E714K	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	746					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTGCCACATTCTTCACACTTG	0.338																																						ENST00000300619.7																			0											c.(2236-2238)Gaa>Aaa		zinc finger protein 91							23.0	25.0	25.0					19																	23543545		2068	4218	6286	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543545C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2236G>A	19.37:g.23543545C>T	ENSP00000300619:p.Glu746Lys					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E714K	p.E746K	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	2441	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	746					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2236G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	9.080	0.998996	0.19121	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07327	3.2;3.2	1.71	0.337	0.15966	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16300	0.0392	L	0.42245	1.32	0.09310	N	1	P;D	0.65815	0.549;0.995	B;D	0.65773	0.156;0.938	T	0.17776	-1.0358	9	0.40728	T	0.16	.	8.9204	0.35607	0.0:0.7685:0.2314:0.0	.	714;746	Q05481-2;Q05481	.;ZNF91_HUMAN	K	746;714	ENSP00000300619:E746K;ENSP00000380272:E714K	ENSP00000300619:E746K	E	-	1	0	ZNF91	23335385	0.000000	0.05858	0.020000	0.16555	0.145000	0.21501	-1.753000	0.01818	0.921000	0.36994	0.205000	0.17691	GAA		0.338	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		8	24	0	0	0	1	0	8	24				
SETX	23064	broad.mit.edu	37	9	135187212	135187212	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:135187212C>G	ENST00000224140.5	-	11	5488	c.5306G>C	c.(5305-5307)aGa>aCa	p.R1769T	SETX_ENST00000372169.2_Missense_Mutation_p.R1769T|SETX_ENST00000393220.1_Missense_Mutation_p.R1769T	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1769					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GAAATTCTCTCTATTTGGAGA	0.343																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(5305-5307)aGa>aCa		senataxin							52.0	51.0	51.0					9																	135187212		2203	4299	6502	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135187212C>G	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.5306G>C	9.37:g.135187212C>G	ENSP00000224140:p.Arg1769Thr					SETX_ENST00000224140.5_Missense_Mutation_p.R1769T|SETX_ENST00000393220.1_Missense_Mutation_p.R1769T	p.R1769T			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	11	5488	-		Myeloproliferative disorder(178;0.204)	1769					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.5306G>C	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779926	0.31502	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.90620	-2.08;-2.7;-2.17;-1.79	5.34	2.87	0.33458	.	0.718272	0.12642	N	0.451258	T	0.79275	0.4418	N	0.14661	0.345	0.25266	N	0.989554	B;B;B	0.34015	0.023;0.201;0.435	B;B;B	0.27500	0.012;0.037;0.08	T	0.68409	-0.5416	10	0.42905	T	0.14	.	6.9548	0.24565	0.0:0.1809:0.0:0.8191	.	1769;1769;1769	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	T	1769;11;1769;1769	ENSP00000224140:R1769T;ENSP00000409143:R11T;ENSP00000361242:R1769T;ENSP00000376913:R1769T	ENSP00000224140:R1769T	R	-	2	0	SETX	134177033	1.000000	0.71417	0.997000	0.53966	0.685000	0.39939	1.256000	0.32921	0.558000	0.29135	-0.300000	0.09419	AGA		0.343	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		14	18	0	0	0	1	0	14	18				
FAM46A	55603	broad.mit.edu	37	6	82461310	82461310	+	Silent	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:82461310G>C	ENST00000320172.6	-	2	863	c.549C>G	c.(547-549)ctC>ctG	p.L183L	FAM46A_ENST00000369754.3_Silent_p.L202L|FAM46A_ENST00000369756.3_Silent_p.L264L	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	183					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		GTGTTACCTTGAGCGTGAGTG	0.577																																						ENST00000369754.3																			0				endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12						c.(604-606)ctC>ctG		family with sequence similarity 46, member A							112.0	88.0	96.0					6																	82461310		2203	4300	6503	SO:0001819	synonymous_variant	55603							g.chr6:82461310G>C	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.549C>G	6.37:g.82461310G>C						FAM46A_ENST00000320172.6_Silent_p.L183L|FAM46A_ENST00000369756.3_Silent_p.L264L	p.L202L			Q96IP4	FA46A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0428)	2	918	-		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)	183					A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Silent	SNP	ENST00000320172.6	37	c.606C>G	CCDS34489.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.955|3.955	-0.011552|-0.011552	0.07727|0.07727	.|.	.|.	ENSG00000112773|ENSG00000112773	ENST00000412306|ENST00000423467	.|.	.|.	.|.	5.03|5.03	1.98|1.98	0.26296|0.26296	.|.	.|.	.|.	.|.	.|.	T|.	0.42245|.	0.1194|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31110|.	-0.9955|.	4|.	.|.	.|.	.|.	-22.6509|-22.6509	8.3041|8.3041	0.32032|0.32032	0.1664:0.1357:0.6979:0.0|0.1664:0.1357:0.6979:0.0	.|.	.|.	.|.	.|.	E|X	74|54	.|.	.|.	Q|S	-|-	1|2	0|0	FAM46A|FAM46A	82518029|82518029	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.424000|0.424000	0.31475|0.31475	1.385000|1.385000	0.34408|0.34408	0.678000|0.678000	0.31325|0.31325	0.561000|0.561000	0.74099|0.74099	CAA|TCA		0.577	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			15	44	0	0	0	1	0	15	44				
CDC37L1	55664	broad.mit.edu	37	9	4701900	4701900	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:4701900G>C	ENST00000381854.3	+	6	986	c.784G>C	c.(784-786)Gaa>Caa	p.E262Q	CDC37L1_ENST00000381858.1_Missense_Mutation_p.E262Q	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	262	Self-association and interaction with Hsp90.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		ATTCAAAAATGAACTTGAAGC	0.333																																						ENST00000381854.3																			0				breast(1)|kidney(1)|lung(2)	4						c.(784-786)Gaa>Caa		cell division cycle 37-like 1							81.0	78.0	79.0					9																	4701900		2203	4298	6501	SO:0001583	missense	55664					cytoplasm		g.chr9:4701900G>C	AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.784G>C	9.37:g.4701900G>C	ENSP00000371278:p.Glu262Gln					CDC37L1_ENST00000381858.1_Missense_Mutation_p.E262Q	p.E262Q	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN		GBM - Glioblastoma multiforme(50;0.0318)	6	986	+	all_hematologic(13;0.137)	Breast(48;0.238)	262			Self-association and interaction with Hsp90.		B1AL70|Q9NWS3|Q9NX16	Missense_Mutation	SNP	ENST00000381854.3	37	c.784G>C	CCDS6454.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907148	0.92107	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.54866	0.55;0.55	6.17	6.17	0.99709	Cdc37, Hsp90 binding (1);	0.000000	0.85682	D	0.000000	T	0.77961	0.4209	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78091	-0.2339	10	0.59425	D	0.04	-27.1786	20.8794	0.99867	0.0:0.0:1.0:0.0	.	262	Q7L3B6	CD37L_HUMAN	Q	262	ENSP00000371282:E262Q;ENSP00000371278:E262Q	ENSP00000371278:E262Q	E	+	1	0	CDC37L1	4691900	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.744000	0.85034	2.941000	0.99782	0.655000	0.94253	GAA		0.333	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		8	25	0	0	0	1	0	8	25				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	55	0	0	0	1	0	4	55				
IPP	3652	broad.mit.edu	37	1	46206694	46206694	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:46206694G>C	ENST00000396478.3	-	3	705	c.603C>G	c.(601-603)ttC>ttG	p.F201L		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	201						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTGCAGCTAAGAAGACCTGGT	0.413																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(601-603)ttC>ttG		intracisternal A particle-promoted polypeptide							180.0	174.0	176.0					1																	46206694		2203	4300	6503	SO:0001583	missense	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46206694G>C	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.603C>G	1.37:g.46206694G>C	ENSP00000379739:p.Phe201Leu						p.F201L	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			3	705	-	Acute lymphoblastic leukemia(166;0.155)		201					A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	c.603C>G	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756599	0.89843	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.70749	-0.51;-0.51	5.17	5.17	0.71159	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.83866	0.5347	M	0.76727	2.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82018	-0.0665	10	0.33141	T	0.24	.	19.0334	0.92967	0.0:0.0:1.0:0.0	.	201;201	Q9Y573;A2A6V3	IPP_HUMAN;.	L	201	ENSP00000353024:F201L;ENSP00000379739:F201L	ENSP00000353024:F201L	F	-	3	2	IPP	45979281	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.524000	0.60552	2.577000	0.86979	0.643000	0.83706	TTC		0.413	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		19	56	0	0	0	1	0	19	56				
MCM10	55388	broad.mit.edu	37	10	13251295	13251295	+	Silent	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr10:13251295G>C	ENST00000484800.2	+	20	2716	c.2613G>C	c.(2611-2613)ctG>ctC	p.L871L	MCM10_ENST00000378694.1_3'UTR|MCM10_ENST00000378714.3_Silent_p.L870L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	871					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTAAATTTCTGAACAGCCTTA	0.398																																						ENST00000378714.3																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(2608-2610)ctG>ctC		minichromosome maintenance complex component 10							97.0	92.0	94.0					10																	13251295		2203	4300	6503	SO:0001819	synonymous_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13251295G>C	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.2613G>C	10.37:g.13251295G>C						MCM10_ENST00000484800.2_Silent_p.L871L|MCM10_ENST00000378694.1_3'UTR	p.L870L	NM_018518.4|NM_182751.2	NP_060988.3|NP_877428.1	Q7L590	MCM10_HUMAN			20	2738	+			871					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Silent	SNP	ENST00000484800.2	37	c.2610G>C	CCDS7096.1																																																																																				0.398	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		7	37	0	0	0	1	0	7	37				
ABHD1	84696	broad.mit.edu	37	2	27351467	27351467	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:27351467G>C	ENST00000316470.4	+	2	387	c.273G>C	c.(271-273)caG>caC	p.Q91H		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	91						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTTATCAGAGGTAAGAAG	0.468																																						ENST00000316470.4																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(271-273)caG>caC		abhydrolase domain containing 1							110.0	103.0	105.0					2																	27351467		2203	4300	6503	SO:0001583	missense	84696					integral to membrane	carboxylesterase activity	g.chr2:27351467G>C	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.273G>C	2.37:g.27351467G>C	ENSP00000326491:p.Gln91His						p.Q91H	NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN			2	387	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		91					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Missense_Mutation	SNP	ENST00000316470.4	37	c.273G>C	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	G	8.809	0.934777	0.18206	.	.	ENSG00000143994	ENST00000316470	T	0.72051	-0.62	4.91	3.09	0.35607	.	0.734607	0.13258	N	0.401498	T	0.53802	0.1819	N	0.24115	0.695	0.27803	N	0.942423	B	0.09022	0.002	B	0.12156	0.007	T	0.45760	-0.9239	10	0.41790	T	0.15	-30.9208	6.8152	0.23826	0.0943:0.176:0.7296:0.0	.	91	Q96SE0	ABHD1_HUMAN	H	91	ENSP00000326491:Q91H	ENSP00000326491:Q91H	Q	+	3	2	ABHD1	27204971	0.952000	0.32445	0.981000	0.43875	0.220000	0.24768	1.298000	0.33412	0.650000	0.30769	0.561000	0.74099	CAG		0.468	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		26	50	0	0	0	1	0	26	50				
PDGFRL	5157	broad.mit.edu	37	8	17434770	17434770	+	Silent	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:17434770C>G	ENST00000541323.1	+	2	454	c.9C>G	c.(7-9)gtC>gtG	p.V3V	PDGFRL_ENST00000398074.3_Silent_p.V3V|PDGFRL_ENST00000251630.6_Silent_p.V3V	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	3					G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AGATGAAGGTCTGGCTGCTGC	0.711											OREG0018579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000541323.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9						c.(7-9)gtC>gtG		platelet-derived growth factor receptor-like							56.0	52.0	54.0					8																	17434770		2203	4300	6503	SO:0001819	synonymous_variant	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17434770C>G	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.9C>G	8.37:g.17434770C>G			OREG0018579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	718	PDGFRL_ENST00000251630.6_Silent_p.V3V|PDGFRL_ENST00000398074.3_Silent_p.V3V	p.V3V	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	2	454	+			3					A8K085|Q6FH04	Silent	SNP	ENST00000541323.1	37	c.9C>G	CCDS6003.1																																																																																				0.711	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		10	16	0	0	0	1	0	10	16				
KANSL1	284058	broad.mit.edu	37	17	44248549	44248549	+	Silent	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:44248549G>A	ENST00000262419.6	-	2	1431	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000575318.1_Silent_p.L321L|KANSL1_ENST00000572904.1_Silent_p.L321L|KANSL1_ENST00000432791.1_Silent_p.L321L|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Silent_p.L321L	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	321					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AATCCACCCAGCTGATGTTGT	0.512																																						ENST00000262419.6																			0											c.(961-963)Ctg>Ttg		KAT8 regulatory NSL complex subunit 1							75.0	90.0	85.0					17																	44248549		2203	4300	6503	SO:0001819	synonymous_variant	284058					MLL1 complex	protein binding	g.chr17:44248549G>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.961C>T	17.37:g.44248549G>A						KANSL1_ENST00000572904.1_Silent_p.L321L|KANSL1_ENST00000432791.1_Silent_p.L321L|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.L321L|KANSL1_ENST00000574590.1_Silent_p.L321L	p.L321L	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			2	1431	-			321					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	ENST00000262419.6	37	c.961C>T	CCDS11503.1																																																																																				0.512	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		20	72	0	0	0	1	0	20	72				
FAM208B	54906	broad.mit.edu	37	10	5784161	5784161	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr10:5784161C>T	ENST00000328090.5	+	14	3054	c.2429C>T	c.(2428-2430)tCt>tTt	p.S810F	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	810																	ATCATACGATCTTCCCGAAAG	0.408																																						ENST00000328090.5																			0											c.(2428-2430)tCt>tTt		family with sequence similarity 208, member B							120.0	110.0	113.0					10																	5784161		1870	4096	5966	SO:0001583	missense	54906							g.chr10:5784161C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2429C>T	10.37:g.5784161C>T	ENSP00000328426:p.Ser810Phe					RP11-336A10.2_ENST00000411512.2_RNA	p.S810F	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			14	3054	+			810					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.2429C>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287683	0.59976	.	.	ENSG00000108021	ENST00000328090	T	0.11930	2.73	5.57	5.57	0.84162	.	0.000000	0.50627	D	0.000108	T	0.37732	0.1014	M	0.74881	2.28	0.18873	N	0.999985	D	0.89917	1.0	D	0.75484	0.986	T	0.19160	-1.0314	10	0.87932	D	0	.	14.5089	0.67772	0.0:0.7449:0.2551:0.0	.	810	Q5VWN6	F208B_HUMAN	F	810	ENSP00000328426:S810F	ENSP00000328426:S810F	S	+	2	0	C10orf18	5824167	0.384000	0.25164	0.988000	0.46212	0.774000	0.43823	1.977000	0.40589	2.607000	0.88179	0.655000	0.94253	TCT		0.408	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		10	31	0	0	0	1	0	10	31				
NKIRAS1	28512	broad.mit.edu	37	3	23942311	23942311	+	Silent	SNP	T	T	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:23942311T>C	ENST00000443659.2	-	3	1101	c.324A>G	c.(322-324)aaA>aaG	p.K108K	NKIRAS1_ENST00000415901.2_Silent_p.K108K|NKIRAS1_ENST00000388759.3_Silent_p.K108K|NKIRAS1_ENST00000421515.2_Silent_p.K108K|NKIRAS1_ENST00000416026.2_Silent_p.K108K|NKIRAS1_ENST00000437230.1_Silent_p.K108K|NKIRAS1_ENST00000412028.1_Silent_p.K108K|NKIRAS1_ENST00000425478.2_Silent_p.K108K			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	108					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						CTTTTTTGTCTTTGAACTTAT	0.323																																						ENST00000443659.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						c.(322-324)aaA>aaG		NFKB inhibitor interacting Ras-like 1							65.0	63.0	64.0					3																	23942311		2203	4300	6503	SO:0001819	synonymous_variant	28512				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr3:23942311T>C	AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"""NFKB inhibitor interacting Ras-like protein 1"""			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.324A>G	3.37:g.23942311T>C						NKIRAS1_ENST00000437230.1_Silent_p.K108K|NKIRAS1_ENST00000415901.2_Silent_p.K108K|NKIRAS1_ENST00000421515.2_Silent_p.K108K|NKIRAS1_ENST00000416026.2_Silent_p.K108K|NKIRAS1_ENST00000388759.3_Silent_p.K108K|NKIRAS1_ENST00000412028.1_Silent_p.K108K|NKIRAS1_ENST00000425478.2_Silent_p.K108K	p.K108K			Q9NYS0	KBRS1_HUMAN			3	1101	-			108					Q96K18	Silent	SNP	ENST00000443659.2	37	c.324A>G	CCDS33717.1																																																																																				0.323	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345		22	11	0	0	0	1	0	22	11				
LRRC10	376132	broad.mit.edu	37	12	70004271	70004271	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:70004271C>G	ENST00000361484.3	-	1	671	c.348G>C	c.(346-348)gaG>gaC	p.E116D		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	116					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCAGGCTCAGCTCACTGGGGA	0.567																																						ENST00000361484.3																			0				large_intestine(2)|lung(6)	8						c.(346-348)gaG>gaC		leucine rich repeat containing 10							83.0	83.0	83.0					12																	70004271		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70004271C>G	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.348G>C	12.37:g.70004271C>G	ENSP00000355166:p.Glu116Asp						p.E116D	NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	671	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		116					Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.348G>C	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416586	0.42918	.	.	ENSG00000198812	ENST00000361484	T	0.58506	0.33	5.62	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	L	0.41961	1.31	0.47949	D	0.999552	D	0.89917	1.0	D	0.87578	0.998	T	0.60291	-0.7292	10	0.22109	T	0.4	.	10.0702	0.42328	0.0:0.8363:0.0:0.1637	.	116	Q5BKY1	LRC10_HUMAN	D	116	ENSP00000355166:E116D	ENSP00000355166:E116D	E	-	3	2	LRRC10	68290538	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.213000	0.32407	1.380000	0.46344	0.555000	0.69702	GAG		0.567	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		18	55	0	0	0	1	0	18	55				
CLDN5	7122	broad.mit.edu	37	22	19511491	19511491	+	Silent	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr22:19511491G>A	ENST00000406028.1	-	2	1603	c.543C>T	c.(541-543)ttC>ttT	p.F181F	CLDN5_ENST00000413119.2_Silent_p.F181F|CLDN5_ENST00000403084.1_Silent_p.F181F			O00501	CLD5_HUMAN	claudin 5	96					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					CCAGGGTCACGAAGAGCGCAA	0.711																																						ENST00000406028.1																			0				liver(1)|lung(2)|prostate(1)	4						c.(541-543)ttC>ttT		claudin 5							9.0	9.0	9.0					22																	19511491		2183	4255	6438	SO:0001819	synonymous_variant	7122				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr22:19511491G>A	AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"""Claudins"""	2047	protein-coding gene	gene with protein product		602101	"""transmembrane protein deleted in velocardiofacial syndrome"""	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.543C>T	22.37:g.19511491G>A						CLDN5_ENST00000403084.1_Silent_p.F181F|CLDN5_ENST00000413119.2_Silent_p.F181F	p.F181F			O00501	CLD5_HUMAN			2	1603	-	Colorectal(54;0.0993)		96					B3KS11|Q53XW2|Q8WUW3	Silent	SNP	ENST00000406028.1	37	c.543C>T	CCDS13763.2																																																																																				0.711	CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318122.3	NM_003277		3	5	0	0	0	1	0	3	5				
CBWD1	55871	broad.mit.edu	37	9	163990	163990	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:163990T>C	ENST00000356521.4	-	5	566	c.478A>G	c.(478-480)Att>Gtt	p.I160V	CBWD1_ENST00000431099.2_Missense_Mutation_p.I124V|CBWD1_ENST00000382447.4_Missense_Mutation_p.I160V|CBWD1_ENST00000377400.4_Missense_Mutation_p.I160V|CBWD1_ENST00000314367.10_Missense_Mutation_p.I124V|CBWD1_ENST00000377447.3_Missense_Mutation_p.I160V	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	160							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCAAGATAAATATCACTCCCT	0.313																																						ENST00000377447.3																			0				kidney(1)|lung(2)|ovary(1)|skin(1)	5						c.(478-480)Att>Gtt		COBW domain containing 1							51.0	78.0	69.0					9																	163990		1501	2701	4202	SO:0001583	missense	55871						ATP binding|protein binding	g.chr9:163990T>C	AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.478A>G	9.37:g.163990T>C	ENSP00000348915:p.Ile160Val					CBWD1_ENST00000356521.4_Missense_Mutation_p.I160V|CBWD1_ENST00000377400.4_Missense_Mutation_p.I160V|CBWD1_ENST00000382447.4_Missense_Mutation_p.I160V|CBWD1_ENST00000314367.10_Missense_Mutation_p.I124V|CBWD1_ENST00000431099.2_Missense_Mutation_p.I124V	p.I160V			Q9BRT8	CBWD1_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	5	533	-	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	160					A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Missense_Mutation	SNP	ENST00000356521.4	37	c.478A>G	CCDS6438.1	.	.	.	.	.	.	.	.	.	.	.	12.06	1.824685	0.32237	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447;ENST00000431099;ENST00000377347	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	3.71	3.71	0.42584	Cobalamin (vitamin B12) biosynthesis CobW-like (2);	0.053585	0.64402	D	0.000001	T	0.21550	0.0519	N	0.05050	-0.12	0.43953	D	0.996625	B;B;B;B	0.28350	0.072;0.086;0.208;0.181	B;B;B;B	0.31101	0.047;0.124;0.108;0.122	T	0.06862	-1.0803	10	0.12766	T	0.61	-0.4704	12.8925	0.58080	0.0:0.0:0.0:1.0	.	12;160;124;160	A6NM15;Q9BRT8-3;Q9BRT8-2;Q9BRT8	CBWD7_HUMAN;.;.;CBWD1_HUMAN	V	160;160;160;124;160;124;160	ENSP00000348915:I160V;ENSP00000366617:I160V;ENSP00000371885:I160V;ENSP00000323433:I124V;ENSP00000366666:I160V;ENSP00000406064:I124V	ENSP00000323433:I124V	I	-	1	0	CBWD1	153990	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.670000	0.46833	1.666000	0.50821	0.449000	0.29647	ATT		0.313	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	NM_018491		42	106	0	0	0	1	0	42	106				
C9orf131	138724	broad.mit.edu	37	9	35045669	35045669	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:35045669C>A	ENST00000312292.5	+	2	3090	c.3043C>A	c.(3043-3045)Ccc>Acc	p.P1015T	C9orf131_ENST00000421362.2_Missense_Mutation_p.P967T|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.P942T	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	1015										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCTTCGGGTCCCCAGGATCA	0.577																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(3043-3045)Ccc>Acc		chromosome 9 open reading frame 131							94.0	86.0	89.0					9																	35045669		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35045669C>A	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.3043C>A	9.37:g.35045669C>A	ENSP00000308279:p.Pro1015Thr					C9orf131_ENST00000421362.2_Missense_Mutation_p.P967T|C9orf131_ENST00000354479.5_Missense_Mutation_p.P942T	p.P1015T	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	3090	+	all_epithelial(49;0.22)		1015					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.3043C>A	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370414	0.42003	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.19105	2.18;2.17;2.19	4.65	0.444	0.16592	.	0.758571	0.11766	N	0.531582	T	0.12263	0.0298	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.42908	0.573;0.573;0.793;0.793	B;B;B;B	0.39217	0.294;0.294;0.294;0.294	T	0.18967	-1.0320	10	0.72032	D	0.01	0.2466	1.6489	0.02767	0.1676:0.4776:0.1631:0.1916	.	490;1015;942;967	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	T	967;942;1015;490	ENSP00000393683:P967T;ENSP00000346472:P942T;ENSP00000308279:P1015T	ENSP00000308279:P1015T	P	+	1	0	C9orf131	35035669	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	0.187000	0.16998	0.172000	0.19760	0.563000	0.77884	CCC		0.577	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		26	61	1	0	4.72057e-08	1	4.88406e-08	26	61				
CBFA2T2	9139	broad.mit.edu	37	20	32217648	32217648	+	Missense_Mutation	SNP	G	G	C	rs377509178		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr20:32217648G>C	ENST00000346541.3	+	9	1720	c.1183G>C	c.(1183-1185)Gag>Cag	p.E395Q	CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.E366Q|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.E395Q|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.E386Q|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.E366Q|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.E405Q	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	395					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TGAAAACACAGAGCTGAGGAA	0.522																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(1183-1185)Gag>Cag		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							72.0	69.0	70.0					20																	32217648		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32217648G>C	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1183G>C	20.37:g.32217648G>C	ENSP00000262653:p.Glu395Gln					CBFA2T2_ENST00000342704.5_Missense_Mutation_p.E386Q|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.E366Q|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.E395Q|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.E405Q	p.E395Q	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			9	1720	+			395					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.1183G>C	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770399	0.90108	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.45	5.45	0.79879	NHR2-like (1);	0.166434	0.53938	D	0.000058	T	0.64627	0.2615	L	0.43152	1.355	0.80722	D	1	D;D	0.61080	0.989;0.961	P;P	0.62560	0.904;0.756	T	0.60332	-0.7284	10	0.37606	T	0.19	-14.7221	19.6467	0.95778	0.0:0.0:1.0:0.0	.	395;386	O43439;F8W6D7	MTG8R_HUMAN;.	Q	169;395;386;395;366;405	ENSP00000364428:E395Q;ENSP00000345810:E386Q;ENSP00000262653:E395Q;ENSP00000380902:E366Q;ENSP00000352622:E405Q	ENSP00000345810:E386Q	E	+	1	0	CBFA2T2	31681309	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	7.310000	0.78947	2.710000	0.92621	0.563000	0.77884	GAG		0.522	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		12	40	0	0	0	1	0	12	40				
LOC644669	644669	broad.mit.edu	37	18	15323347	15323347	+	RNA	SNP	T	T	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr18:15323347T>C	ENST00000455308.2	-	0	501				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						CCAATAAAAGTGGTGTGTGGC	0.303																																						ENST00000455308.2																			0																																																			644669							g.chr18:15323347T>C																													18.37:g.15323347T>C								NR_027417.1						0	501	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.303	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			3	5	0	0	0	1	0	3	5				
YY2	404281	broad.mit.edu	37	X	21875100	21875100	+	Silent	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:21875100G>A	ENST00000429584.2	+	1	996	c.498G>A	c.(496-498)acG>acA	p.T166T	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						GCCTGGGCACGAGGAAGTGGG	0.587																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(496-498)acG>acA		YY2 transcription factor							78.0	78.0	78.0					X																	21875100		2203	4300	6503	SO:0001819	synonymous_variant	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875100G>A	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.498G>A	X.37:g.21875100G>A						MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	p.T166T	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	996	+			166					B2RP10|Q6Q1S4	Silent	SNP	ENST00000429584.2	37	c.498G>A	CCDS14202.1																																																																																				0.587	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		35	57	0	0	0	1	0	35	57				
CYFIP1	23191	broad.mit.edu	37	15	22926026	22926026	+	Silent	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr15:22926026C>T	ENST00000313077.7	+	3	293	c.168C>T	c.(166-168)atC>atT	p.I56I	CYFIP1_ENST00000560848.1_Silent_p.I56I	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TTACTGGCATCGCAAGATACA	0.453																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(166-168)atC>atT		cytoplasmic FMR1 interacting protein 1							151.0	133.0	139.0					15																	22926026		2203	4300	6503	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22926026C>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.168C>T	15.37:g.22926026C>T						CYFIP1_ENST00000560848.1_Silent_p.I56I	p.I56I	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	3	293	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	56						Silent	SNP	ENST00000313077.7	37	c.168C>T	CCDS10009.1																																																																																				0.453	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		19	48	0	0	0	1	0	19	48				
SMURF1	57154	broad.mit.edu	37	7	98649936	98649936	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:98649936G>C	ENST00000361125.1	-	7	932	c.613C>G	c.(613-615)Caa>Gaa	p.Q205E	SMURF1_ENST00000361368.2_Missense_Mutation_p.Q205E|SMURF1_ENST00000480055.1_5'UTR	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	205					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TGAAGTCTTTGATCTTGACTT	0.592																																						ENST00000361125.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25						c.(613-615)Caa>Gaa		SMAD specific E3 ubiquitin protein ligase 1							132.0	117.0	122.0					7																	98649936		2203	4300	6503	SO:0001583	missense	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98649936G>C	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.613C>G	7.37:g.98649936G>C	ENSP00000354621:p.Gln205Glu					SMURF1_ENST00000361368.2_Missense_Mutation_p.Q205E|SMURF1_ENST00000480055.1_5'UTR	p.Q205E	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		7	932	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		205					A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.613C>G	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	G	6.068	0.380881	0.11466	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.42131	1.33;0.98	5.55	4.64	0.57946	.	0.306298	0.38272	N	0.001741	T	0.29355	0.0731	N	0.24115	0.695	0.46798	D	0.999207	B;B;B	0.19706	0.038;0.022;0.022	B;B;B	0.20577	0.03;0.028;0.017	T	0.06625	-1.0816	10	0.10377	T	0.69	.	16.1838	0.81934	0.0:0.1336:0.8664:0.0	.	205;205;205	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	E	205	ENSP00000355326:Q205E;ENSP00000354621:Q205E	ENSP00000354621:Q205E	Q	-	1	0	SMURF1	98487872	1.000000	0.71417	0.935000	0.37517	0.996000	0.88848	4.376000	0.59556	1.299000	0.44798	0.650000	0.86243	CAA		0.592	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		27	68	0	0	0	1	0	27	68				
ERMP1	79956	broad.mit.edu	37	9	5787438	5787438	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:5787438C>G	ENST00000339450.5	-	14	2631	c.2542G>C	c.(2542-2544)Gaa>Caa	p.E848Q	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000543230.1_3'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	848						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		ACCTGCACTTCTATCCAGAAC	0.473																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(2542-2544)Gaa>Caa		endoplasmic reticulum metallopeptidase 1							110.0	108.0	109.0					9																	5787438		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5787438C>G	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.2542G>C	9.37:g.5787438C>G	ENSP00000340427:p.Glu848Gln					ERMP1_ENST00000543230.1_3'UTR|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000214893.5_5'UTR	p.E848Q	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	14	2631	-		Acute lymphoblastic leukemia(23;0.158)	848					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.2542G>C	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499622	0.64298	.	.	ENSG00000099219	ENST00000339450	T	0.52754	0.65	5.77	5.77	0.91146	.	0.044093	0.85682	D	0.000000	T	0.58807	0.2148	M	0.62723	1.935	0.80722	D	1	D	0.60160	0.987	P	0.50754	0.649	T	0.59648	-0.7415	10	0.52906	T	0.07	-22.591	19.5892	0.95501	0.0:1.0:0.0:0.0	.	848	Q7Z2K6	ERMP1_HUMAN	Q	848	ENSP00000340427:E848Q	ENSP00000340427:E848Q	E	-	1	0	ERMP1	5777438	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	6.890000	0.75633	2.729000	0.93468	0.557000	0.71058	GAA		0.473	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		22	35	0	0	0	1	0	22	35				
SOGA1	140710	broad.mit.edu	37	20	35444093	35444093	+	Silent	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr20:35444093G>A	ENST00000357779.3	-	5	1364	c.1038C>T	c.(1036-1038)agC>agT	p.S346S	SOGA1_ENST00000279034.6_Silent_p.S346S|SOGA1_ENST00000237536.4_Silent_p.S584S|SOGA1_ENST00000456801.2_Silent_p.S187S			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	346					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGACCTTGCCGCTGAGCTCGC	0.637																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(1750-1752)agC>agT		suppressor of glucose, autophagy associated 1							15.0	18.0	17.0					20																	35444093		2182	4289	6471	SO:0001819	synonymous_variant	140710							g.chr20:35444093G>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1038C>T	20.37:g.35444093G>A						SOGA1_ENST00000456801.2_Silent_p.S187S|SOGA1_ENST00000357779.3_Silent_p.S346S|SOGA1_ENST00000279034.5_Silent_p.S346S	p.S584S	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	2093	-			346					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.1752C>T																																																																																					0.637	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		3	10	0	0	0	1	0	3	10				
SNHG14	104472715	broad.mit.edu	37	15	25327844	25327844	+	RNA	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr15:25327844C>T	ENST00000546682.1	+	0	180				SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-16_ENST00000384533.1_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-14_ENST00000383894.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGGGCTTCTTCAGGTGCTGGT	0.483																																						ENST00000546682.1																			0																																																			104472715							g.chr15:25327844C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25327844C>T						SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	180	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.483	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			9	14	0	0	0	1	0	9	14				
MDN1	23195	broad.mit.edu	37	6	90409883	90409883	+	Silent	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:90409883G>A	ENST00000369393.3	-	57	8884	c.8769C>T	c.(8767-8769)caC>caT	p.H2923H	MDN1_ENST00000428876.1_Silent_p.H2923H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2923					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTGGTGAGGTGGATTACGG	0.478																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(8767-8769)caC>caT		MDN1, midasin homolog (yeast)							122.0	115.0	117.0					6																	90409883		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90409883G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.8769C>T	6.37:g.90409883G>A						MDN1_ENST00000428876.1_Silent_p.H2923H	p.H2923H			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	57	8884	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2923					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.8769C>T	CCDS5024.1																																																																																				0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			17	52	0	0	0	1	0	17	52				
ZNF670	93474	broad.mit.edu	37	1	247202158	247202158	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:247202158C>G	ENST00000366503.2	-	3	303	c.145G>C	c.(145-147)Gac>Cac	p.D49H		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATATTCTGGTCTTCTGATTTG	0.343																																						ENST00000366503.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(145-147)Gac>Cac		zinc finger protein 670							84.0	81.0	82.0					1																	247202158		2203	4297	6500	SO:0001583	missense	93474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247202158C>G		CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.145G>C	1.37:g.247202158C>G	ENSP00000355459:p.Asp49His						p.D49H	NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		3	303	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	49			KRAB.			Missense_Mutation	SNP	ENST00000366503.2	37	c.145G>C	CCDS31087.1	.	.	.	.	.	.	.	.	.	.	C	7.740	0.701053	0.15172	.	.	ENSG00000135747	ENST00000366503	T	0.00816	5.66	1.11	0.139	0.14798	Krueppel-associated box (3);	.	.	.	.	T	0.01387	0.0045	M	0.72576	2.205	0.09310	N	1	B	0.32101	0.356	B	0.32624	0.149	T	0.41360	-0.9513	9	0.59425	D	0.04	.	3.6283	0.08121	0.0:0.7253:0.0:0.2747	.	49	Q9BS34	ZN670_HUMAN	H	49	ENSP00000355459:D49H	ENSP00000355459:D49H	D	-	1	0	ZNF670	245268781	0.075000	0.21258	0.003000	0.11579	0.028000	0.11728	-0.482000	0.06544	0.038000	0.15604	-0.460000	0.05396	GAC		0.343	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213		11	26	0	0	0	1	0	11	26				
STAT4	6775	broad.mit.edu	37	2	191937885	191937885	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:191937885G>A	ENST00000392320.2	-	5	718	c.404C>T	c.(403-405)tCa>tTa	p.S135L	STAT4_ENST00000358470.4_Missense_Mutation_p.S135L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	135					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTCTGAAACTGAAGAACTTTG	0.388																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(403-405)tCa>tTa		signal transducer and activator of transcription 4							132.0	142.0	139.0					2																	191937885		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191937885G>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.404C>T	2.37:g.191937885G>A	ENSP00000376134:p.Ser135Leu					STAT4_ENST00000358470.4_Missense_Mutation_p.S135L	p.S135L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		5	718	-			135					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.404C>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063178	0.55432	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.88277	-2.36;-2.36	5.92	4.94	0.65067	STAT transcription factor, coiled coil (1);	0.358233	0.26234	N	0.025553	T	0.66287	0.2774	N	0.00926	-1.1	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.63418	-0.6642	10	0.34782	T	0.22	-0.1281	3.9368	0.09309	0.3171:0.0:0.6829:0.0	.	135;135	B4DV04;Q14765	.;STAT4_HUMAN	L	135	ENSP00000351255:S135L;ENSP00000376134:S135L	ENSP00000351255:S135L	S	-	2	0	STAT4	191646130	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	2.901000	0.48695	2.798000	0.96311	0.557000	0.71058	TCA		0.388	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		28	98	0	0	0	1	0	28	98				
AGGF1	55109	broad.mit.edu	37	5	76349813	76349813	+	Silent	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:76349813C>T	ENST00000312916.7	+	10	1873	c.1491C>T	c.(1489-1491)taC>taT	p.Y497Y		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	497					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GTGACCCTTACGTACTTGAGC	0.403																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(1489-1491)taC>taT		angiogenic factor with G patch and FHA domains 1							143.0	135.0	138.0					5																	76349813		2203	4300	6503	SO:0001819	synonymous_variant	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76349813C>T	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1491C>T	5.37:g.76349813C>T							p.Y497Y	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	10	1873	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	497					O00581|Q53YS3|Q9BU84|Q9NW66	Silent	SNP	ENST00000312916.7	37	c.1491C>T	CCDS4035.1																																																																																				0.403	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		24	51	0	0	0	1	0	24	51				
ZNF33B	7582	broad.mit.edu	37	10	43127881	43127881	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr10:43127881G>A	ENST00000359467.3	-	3	130	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGGAACTTCTGATCTACCTGA	0.418																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(16-18)Cag>Tag		zinc finger protein 33B							64.0	65.0	65.0					10																	43127881		2203	4300	6503	SO:0001587	stop_gained	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43127881G>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.16C>T	10.37:g.43127881G>A	ENSP00000352444:p.Gln6*					ZNF33B_ENST00000486187.1_RNA	p.Q6*	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			3	130	-			6					Q06731|Q32MA2|Q86XY8|Q8NDW3	Nonsense_Mutation	SNP	ENST00000359467.3	37	c.16C>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367459	0.42003	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	.	.	.	1.44	0.377	0.16198	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2467	0.15500	0.0:0.3718:0.6282:0.0	.	.	.	.	X	6	.	.	Q	-	1	0	ZNF33B	42447887	0.968000	0.33430	0.038000	0.18304	0.515000	0.34225	0.753000	0.26376	0.128000	0.18479	0.423000	0.28283	CAG		0.418	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		5	31	0	0	0	1	0	5	31				
SLITRK1	114798	broad.mit.edu	37	13	84455565	84455565	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr13:84455565C>G	ENST00000377084.2	-	1	963	c.78G>C	c.(76-78)gaG>gaC	p.E26D		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	26	LRRNT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AACAGATCTTCTCTTTGCAAA	0.478																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(76-78)gaG>gaC		SLIT and NTRK-like family, member 1							93.0	92.0	92.0					13																	84455565		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455565C>G	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.78G>C	13.37:g.84455565C>G	ENSP00000366288:p.Glu26Asp						p.E26D	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	963	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	26			LRRNT.		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.78G>C	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	2.980	-0.210481	0.06140	.	.	ENSG00000178235	ENST00000377084	T	0.58358	0.34	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	L	0.36672	1.1	0.49213	D	0.999768	B	0.11235	0.004	B	0.12837	0.008	T	0.15009	-1.0452	10	0.11485	T	0.65	-15.3053	10.1463	0.42767	0.0:0.9076:0.0:0.0924	.	26	Q96PX8	SLIK1_HUMAN	D	26	ENSP00000366288:E26D	ENSP00000366288:E26D	E	-	3	2	SLITRK1	83353566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.451000	0.52964	2.533000	0.85409	0.561000	0.74099	GAG		0.478	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		31	67	0	0	0	1	0	31	67				
HOXD4	3233	broad.mit.edu	37	2	177017499	177017499	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:177017499G>C	ENST00000306324.3	+	2	1009	c.597G>C	c.(595-597)aaG>aaC	p.K199N	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	199					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCCAGATCAAGATCTGGTTCC	0.478																																						ENST00000306324.3																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(595-597)aaG>aaC		homeobox D4							87.0	88.0	88.0					2																	177017499		2203	4300	6503	SO:0001583	missense	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177017499G>C		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.597G>C	2.37:g.177017499G>C	ENSP00000302548:p.Lys199Asn					HOXD3_ENST00000468418.3_5'UTR	p.K199N	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	1009	+			199					B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	37	c.597G>C	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415973	0.62511	.	.	ENSG00000170166	ENST00000306324	D	0.96913	-4.17	5.27	5.27	0.74061	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98726	0.9572	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99215	1.0877	10	0.87932	D	0	.	12.2563	0.54625	0.078:0.0:0.922:0.0	.	199	P09016	HXD4_HUMAN	N	199	ENSP00000302548:K199N	ENSP00000302548:K199N	K	+	3	2	HOXD4	176725745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.295000	0.72744	2.456000	0.83038	0.561000	0.74099	AAG		0.478	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			14	61	0	0	0	1	0	14	61				
LOC644669	644669	broad.mit.edu	37	18	15323340	15323340	+	RNA	SNP	A	A	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr18:15323340A>G	ENST00000455308.2	-	0	508				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						CTTATGGCCAATAAAAGTGGT	0.299																																						ENST00000455308.2																			0																																																			644669							g.chr18:15323340A>G																													18.37:g.15323340A>G								NR_027417.1						0	508	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.299	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			3	5	0	0	0	1	0	3	5				
DNAH10	196385	broad.mit.edu	37	12	124335581	124335581	+	Silent	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:124335581C>T	ENST00000409039.3	+	34	5920	c.5895C>T	c.(5893-5895)atC>atT	p.I1965I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1965	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCAGCAGATCTGTGAGATCA	0.647																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5893-5895)atC>atT		dynein, axonemal, heavy chain 10							38.0	42.0	41.0					12																	124335581		2122	4245	6367	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124335581C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5895C>T	12.37:g.124335581C>T							p.I1965I	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	34	5920	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1965			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.5895C>T	CCDS9255.2																																																																																				0.647	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			8	38	0	0	0	1	0	8	38				
ROBO1	6091	broad.mit.edu	37	3	79639112	79639112	+	Splice_Site	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:79639112C>G	ENST00000464233.1	-	2	64		c.e2-1			NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AATGTGTTATCTGGGGAGATT	0.333																																						ENST00000464233.1																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.e2-1		roundabout, axon guidance receptor, homolog 1 (Drosophila)							68.0	65.0	66.0					3																	79639112		969	2100	3069	SO:0001630	splice_region_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:79639112C>G	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.50-1G>C	3.37:g.79639112C>G								NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	2	64	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)						B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Splice_Site	SNP	ENST00000464233.1	37		CCDS54611.1																																																																																				0.333	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	Intron	25	21	0	0	0	1	0	25	21				
ACACA	31	broad.mit.edu	37	17	35580468	35580468	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:35580468G>C	ENST00000394406.2	-	28	3608	c.3418C>G	c.(3418-3420)Cac>Gac	p.H1140D	ACACA_ENST00000335166.5_Missense_Mutation_p.H1062D|ACACA_ENST00000360679.3_Missense_Mutation_p.H1082D|ACACA_ENST00000353139.5_Missense_Mutation_p.H1177D	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1140					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGTTGCTGTGATAGAAGAAG	0.388																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(3529-3531)Cac>Gac		acetyl-CoA carboxylase alpha	Biotin(DB00121)						190.0	174.0	179.0					17																	35580468		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35580468G>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3418C>G	17.37:g.35580468G>C	ENSP00000377928:p.His1140Asp					ACACA_ENST00000394406.2_Missense_Mutation_p.H1140D|ACACA_ENST00000360679.3_Missense_Mutation_p.H1082D|ACACA_ENST00000335166.5_Missense_Mutation_p.H1062D	p.H1177D	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			28	4010	-		Breast(25;0.00157)|Ovarian(249;0.15)	1140					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.3529C>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744853	0.89663	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.71	5.71	0.89125	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.80292	0.4596	M	0.87547	2.89	0.80722	D	1	D;D;D	0.76494	0.999;0.96;0.981	D;P;P	0.91635	0.999;0.81;0.799	T	0.79557	-0.1754	10	0.38643	T	0.18	-15.2986	19.8677	0.96824	0.0:0.0:1.0:0.0	.	1177;1140;1082	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	D	1177;1082;1140;1164;1062	ENSP00000344789:H1177D;ENSP00000353898:H1082D;ENSP00000377928:H1140D;ENSP00000335323:H1062D	ENSP00000335323:H1062D	H	-	1	0	ACACA	32654581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.709000	0.92574	0.655000	0.94253	CAC		0.388	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		22	72	0	0	0	1	0	22	72				
PLEKHM1P	440456	broad.mit.edu	37	17	62796462	62796462	+	RNA	SNP	T	T	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:62796462T>C	ENST00000582986.1	-	0	1458					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										CATCTTCTCATTGTTCCTGAT	0.532																																						ENST00000582986.1																			0																																																			440456							g.chr17:62796462T>C			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62796462T>C								NR_024386.1						0	1458	-									RNA	SNP	ENST00000582986.1	37																																																																																						0.532	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		5	15	0	0	0	1	0	5	15				
SYT4	6860	broad.mit.edu	37	18	40854064	40854064	+	Silent	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr18:40854064G>C	ENST00000255224.3	-	2	698	c.330C>G	c.(328-330)ctC>ctG	p.L110L	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L92L	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	110					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGCCAGGTTTGAGGTTGGTTT	0.413																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(328-330)ctC>ctG		synaptotagmin IV							145.0	142.0	143.0					18																	40854064		2203	4300	6503	SO:0001819	synonymous_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40854064G>C	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.330C>G	18.37:g.40854064G>C						SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L92L	p.L110L	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			2	698	-			110					B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	c.330C>G	CCDS11922.1																																																																																				0.413	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		18	62	0	0	0	1	0	18	62				
RAD18	56852	broad.mit.edu	37	3	8944093	8944093	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:8944093G>C	ENST00000264926.2	-	10	1255	c.1139C>G	c.(1138-1140)tCt>tGt	p.S380C		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	380					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CTTTTCTGTAGATTCATCTTC	0.299								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(1138-1140)tCt>tGt	Rad6 pathway	RAD18 homolog (S. cerevisiae)							166.0	154.0	158.0					3																	8944093		2202	4300	6502	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8944093G>C		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.1139C>G	3.37:g.8944093G>C	ENSP00000264926:p.Ser380Cys						p.S380C	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	10	1255	-			380					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.1139C>G	CCDS2571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.072194|4.072194	0.76415|0.76415	.|.	.|.	ENSG00000070950|ENSG00000070950	ENST00000427329|ENST00000264926	.|T	.|0.25414	.|1.8	4.82|4.82	3.94|3.94	0.45596|0.45596	.|.	.|0.566386	.|0.17209	.|N	.|0.182823	T|T	0.23965|0.23965	0.0580|0.0580	L|L	0.44542|0.44542	1.39|1.39	0.20196|0.20196	N|N	0.999924|0.999924	.|D	.|0.54397	.|0.966	.|B	.|0.43301	.|0.415	T|T	0.08027|0.08027	-1.0742|-1.0742	5|10	.|0.56958	.|D	.|0.05	-0.6552|-0.6552	10.9681|10.9681	0.47424|0.47424	0.0:0.1887:0.8113:0.0|0.0:0.1887:0.8113:0.0	.|.	.|380	.|Q9NS91	.|RAD18_HUMAN	M|C	16|380	.|ENSP00000264926:S380C	.|ENSP00000264926:S380C	I|S	-|-	3|2	3|0	RAD18|RAD18	8919093|8919093	0.068000|0.068000	0.21057|0.21057	0.187000|0.187000	0.23214|0.23214	0.910000|0.910000	0.53928|0.53928	2.938000|2.938000	0.48987|0.48987	1.241000|1.241000	0.43820|0.43820	0.591000|0.591000	0.81541|0.81541	ATC|TCT		0.299	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		28	23	0	0	0	1	0	28	23				
PCDHA13	56136	broad.mit.edu	37	5	140262180	140262180	+	Silent	SNP	C	C	T	rs577527606		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:140262180C>T	ENST00000289272.2	+	1	327	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.I109I|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	109	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTGGACAGGC	0.522																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(325-327)atC>atT									135.0	146.0	142.0					5																	140262180		2203	4300	6503	SO:0001819	synonymous_variant	56136							g.chr5:140262180C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.327C>T	5.37:g.140262180C>T						PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.I109I|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron	p.I109I	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	327	+								O75277	Silent	SNP	ENST00000289272.2	37	c.327C>T	CCDS4240.1																																																																																				0.522	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		60	123	0	0	0	1	0	60	123				
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:32725559C>T	ENST00000437316.2	-	4	811	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.G250S|HLA-DQB2_ENST00000411527.1_Intron			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	254					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(748-750)Ggt>Agt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725559C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.748G>A	6.37:g.32725559C>T	ENSP00000396330:p.Gly250Ser					HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S	p.G250S			Q5SR06	Q5SR06_HUMAN			4	809	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.748G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.519393	0.00149	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00623	6.18;6.15	3.24	-1.21	0.09524	.	0.870743	0.09631	N	0.776240	T	0.00178	0.0005	.	.	.	0.21967	N	0.999447	B	0.10296	0.003	B	0.09377	0.004	T	0.22277	-1.0221	9	0.36615	T	0.2	.	4.3261	0.11041	0.0:0.2114:0.1703:0.6183	.	250	A2ADX3	.	S	250	ENSP00000396330:G250S;ENSP00000410512:G250S	ENSP00000410512:G250S	G	-	1	0	HLA-DQB2	32833537	0.000000	0.05858	0.134000	0.22075	0.023000	0.10783	0.266000	0.18534	-0.331000	0.08501	-1.846000	0.00573	GGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			3	15	0	0	0	1	0	3	15				
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:7577127C>T	ENST00000269305.4	-	8	1000	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000420246.2_Missense_Mutation_p.E271K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.E271K	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACGCACCTCAAAGCTGTTC	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		74	Substitution - Missense(34)|Substitution - Nonsense(18)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Insertion - Frameshift(1)	p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(1)	urinary_tract(16)|lung(10)|oesophagus(7)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(3)|ovary(2)|cervix(1)|biliary_tract(1)|salivary_gland(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(811-813)Gag>Aag	Other conserved DNA damage response genes	tumor protein p53							58.0	51.0	54.0					17																	7577127		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577127C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.811G>A	17.37:g.7577127C>T	ENSP00000269305:p.Glu271Lys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000269305.4_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E271K	p.E271K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	943	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	271		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.811G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512978	0.96402	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.993;0.999;1.0	D	0.96522	0.9386	10	0.87932	D	0	-38.0695	16.1198	0.81342	0.0:1.0:0.0:0.0	.	271;271;271;271	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	271;271;271;271;271;260;139	ENSP00000352610:E271K;ENSP00000269305:E271K;ENSP00000398846:E271K;ENSP00000391127:E271K;ENSP00000391478:E271K;ENSP00000425104:E139K	ENSP00000269305:E271K	E	-	1	0	TP53	7517852	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	10	0	0	0	1	0	10	10				
VWF	7450	broad.mit.edu	37	12	6103627	6103627	+	Silent	SNP	C	C	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:6103627C>A	ENST00000261405.5	-	36	6464	c.6210G>T	c.(6208-6210)ctG>ctT	p.L2070L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2070	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGCTGAGCTGCAGTTGGAACT	0.428																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(6208-6210)ctG>ctT		von Willebrand factor	Antihemophilic Factor(DB00025)						336.0	274.0	295.0					12																	6103627		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6103627C>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6210G>T	12.37:g.6103627C>A							p.L2070L	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			36	6464	-			2070			VWFD 4.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.6210G>T	CCDS8539.1																																																																																				0.428	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		38	85	1	0	2.24893e-16	1	2.38887e-16	38	85				
ZFP2	80108	broad.mit.edu	37	5	178359177	178359177	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:178359177A>G	ENST00000361362.2	+	5	1393	c.863A>G	c.(862-864)cAt>cGt	p.H288R	ZFP2_ENST00000523286.1_Missense_Mutation_p.H288R|ZFP2_ENST00000520301.1_Missense_Mutation_p.H288R|ZFP2_ENST00000503510.2_Missense_Mutation_p.H288R	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CTTACCCTACATCAGCGAAAT	0.378																																						ENST00000361362.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20						c.(862-864)cAt>cGt		ZFP2 zinc finger protein							74.0	75.0	75.0					5																	178359177		2203	4300	6503	SO:0001583	missense	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178359177A>G	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.863A>G	5.37:g.178359177A>G	ENSP00000354453:p.His288Arg					ZFP2_ENST00000520301.1_Missense_Mutation_p.H288R|ZFP2_ENST00000503510.2_Missense_Mutation_p.H288R|ZFP2_ENST00000523286.1_Missense_Mutation_p.H288R	p.H288R	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	1393	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	288					A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	c.863A>G	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	a	15.42	2.829208	0.50845	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	4.79	3.61	0.41365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33161	N	0.005206	D	0.95230	0.8453	H	0.97682	4.055	0.37351	D	0.910813	D	0.89917	1.0	D	0.83275	0.996	D	0.95819	0.8848	10	0.87932	D	0	-9.7259	9.8559	0.41086	0.8274:0.1726:0.0:0.0	.	288	Q6ZN57	ZFP2_HUMAN	R	288	ENSP00000354453:H288R;ENSP00000430980:H288R;ENSP00000430531:H288R;ENSP00000438114:H288R	ENSP00000354453:H288R	H	+	2	0	ZFP2	178291783	1.000000	0.71417	0.981000	0.43875	0.908000	0.53690	8.545000	0.90657	0.838000	0.34948	-0.316000	0.08728	CAT		0.378	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		19	69	0	0	0	1	0	19	69				
NAA25	80018	broad.mit.edu	37	12	112471054	112471054	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:112471054C>G	ENST00000261745.4	-	23	3027	c.2779G>C	c.(2779-2781)Gac>Cac	p.D927H		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	927						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AGAGAAGTGTCTTCTAAAATA	0.378																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(2779-2781)Gac>Cac		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							117.0	124.0	122.0					12																	112471054		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112471054C>G	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2779G>C	12.37:g.112471054C>G	ENSP00000261745:p.Asp927His						p.D927H	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			23	3027	-			927					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.2779G>C	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584418	0.46110	.	.	ENSG00000111300	ENST00000261745	T	0.27890	1.64	5.91	5.91	0.95273	.	0.321072	0.33792	N	0.004549	T	0.22282	0.0537	N	0.19112	0.55	0.32981	D	0.523642	B	0.28512	0.214	B	0.28638	0.092	T	0.23868	-1.0176	10	0.48119	T	0.1	-6.5761	13.5359	0.61646	0.0:0.9292:0.0:0.0708	.	927	Q14CX7	NAA25_HUMAN	H	927	ENSP00000261745:D927H	ENSP00000261745:D927H	D	-	1	0	NAA25	110955437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.301000	0.51842	2.816000	0.96949	0.644000	0.83932	GAC		0.378	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		20	40	0	0	0	1	0	20	40				
COMTD1	118881	broad.mit.edu	37	10	76995480	76995480	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr10:76995480C>T	ENST00000372538.3	-	2	198	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	39						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	O-methyltransferase activity (GO:0008171)			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					TCGCCGGCCTCGCCATGGGGG	0.721																																					Colon(106;1192 2596 47278)	ENST00000372538.3																			0				central_nervous_system(1)|large_intestine(1)|lung(1)	3						c.(115-117)cGa>cAa		catechol-O-methyltransferase domain containing 1							6.0	7.0	7.0					10																	76995480		2051	4089	6140	SO:0001583	missense	118881					integral to membrane	O-methyltransferase activity	g.chr10:76995480C>T		CCDS7349.1	10q22.2	2013-09-20			ENSG00000165644	ENSG00000165644			26309	protein-coding gene	gene with protein product						12975309	Standard	NM_144589		Approved	FLJ23841	uc001jxb.3	Q86VU5	OTTHUMG00000018518	ENST00000372538.3:c.116G>A	10.37:g.76995480C>T	ENSP00000361616:p.Arg39Gln					COMTD1_ENST00000460899.1_5'UTR	p.R39Q	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN			2	198	-	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)		39					Q8TE79	Missense_Mutation	SNP	ENST00000372538.3	37	c.116G>A	CCDS7349.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779139	0.49891	.	.	ENSG00000165644	ENST00000536650;ENST00000372538	.	.	.	5.21	4.23	0.50019	.	0.345430	0.25765	N	0.028449	T	0.13243	0.0321	N	0.24115	0.695	0.20074	N	0.999935	D	0.54047	0.964	B	0.32289	0.143	T	0.18366	-1.0339	9	0.13853	T	0.58	-7.0514	9.3587	0.38182	0.2683:0.7317:0.0:0.0	.	39	Q86VU5	CMTD1_HUMAN	Q	39	.	ENSP00000361616:R39Q	R	-	2	0	COMTD1	76665486	0.013000	0.17824	0.236000	0.24074	0.037000	0.13140	0.248000	0.18198	2.428000	0.82296	0.561000	0.74099	CGA		0.721	COMTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048802.1	NM_144589		4	6	0	0	0	1	0	4	6				
MYOT	9499	broad.mit.edu	37	5	137206631	137206631	+	Silent	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:137206631C>G	ENST00000239926.4	+	2	665	c.291C>G	c.(289-291)ctC>ctG	p.L97L	MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_5'UTR|MYOT_ENST00000421631.2_Intron	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	97	Necessary for interaction with ACTN1.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCAGCTTCCTCAGCTCCATAT	0.478																																						ENST00000239926.4																			0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(289-291)ctC>ctG		myotilin							63.0	60.0	61.0					5																	137206631		2203	4300	6503	SO:0001819	synonymous_variant	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137206631C>G	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.291C>G	5.37:g.137206631C>G						RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Intron|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_5'UTR	p.L97L	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		2	665	+			97			Necessary for interaction with ACTN1.		A0A4R6|B4DT79	Silent	SNP	ENST00000239926.4	37	c.291C>G	CCDS4194.1																																																																																				0.478	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		11	45	0	0	0	1	0	11	45				
SOBP	55084	broad.mit.edu	37	6	107824918	107824918	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:107824918G>A	ENST00000317357.5	+	2	813	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TGATAAGGTTGAATTAAAAGA	0.393																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(154-156)Gaa>Aaa		sine oculis binding protein homolog (Drosophila)							129.0	123.0	125.0					6																	107824918		1848	4096	5944	SO:0001583	missense	55084						metal ion binding	g.chr6:107824918G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.154G>A	6.37:g.107824918G>A	ENSP00000318900:p.Glu52Lys						p.E52K	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	2	813	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	52						Missense_Mutation	SNP	ENST00000317357.5	37	c.154G>A	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	36	5.837207	0.97009	.	.	ENSG00000112320	ENST00000317357	T	0.11063	2.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.02294	-1.1181	10	0.72032	D	0.01	-8.7354	19.4461	0.94847	0.0:0.0:1.0:0.0	.	52	A7XYQ1	SOBP_HUMAN	K	52	ENSP00000318900:E52K	ENSP00000318900:E52K	E	+	1	0	SOBP	107931611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.596000	0.87737	0.655000	0.94253	GAA		0.393	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		24	51	0	0	0	1	0	24	51				
TRBV6-5	28602	broad.mit.edu	37	7	142180948	142180948	+	RNA	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:142180948C>G	ENST00000390368.2	-	0	68									T cell receptor beta variable 6-5																		GGCCGATGCTCATGGCAGATG	0.567																																						ENST00000390368.2																			0																				64.0	70.0	68.0					7																	142180948		1975	4160	6135			28602							g.chr7:142180948C>G	L36092		7q34	2012-02-07			ENSG00000211721	ENSG00000211721		"""T cell receptors / TRB locus"""	12230	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV65, TCRBV13S1, TCRBV6S5			OTTHUMG00000158519		7.37:g.142180948C>G														0	68	-									RNA	SNP	ENST00000390368.2	37																																																																																						0.567	TRBV6-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351225.1	NG_001333		8	31	0	0	0	1	0	8	31				
ZNF45	7596	broad.mit.edu	37	19	44419217	44419217	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:44419217T>C	ENST00000269973.5	-	10	1461	c.371A>G	c.(370-372)aAt>aGt	p.N124S	ZNF45_ENST00000589703.1_Missense_Mutation_p.N124S|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	124					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TCTTTGAATATTTACCACAGA	0.403																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(370-372)aAt>aGt		zinc finger protein 45							119.0	112.0	115.0					19																	44419217		2203	4300	6503	SO:0001583	missense	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44419217T>C	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.371A>G	19.37:g.44419217T>C	ENSP00000269973:p.Asn124Ser					ZNF45_ENST00000589703.1_Missense_Mutation_p.N124S|RP11-15A1.2_ENST00000586247.1_RNA	p.N124S	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			10	1461	-			124					P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	c.371A>G	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.684011	0.29872	.	.	ENSG00000124459	ENST00000269973;ENST00000328762	T	0.06849	3.25	3.96	-0.868	0.10652	.	1.308410	0.05664	N	0.587368	T	0.05456	0.0144	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41556	-0.9502	10	0.06891	T	0.86	-4.1919	3.9799	0.09490	0.3069:0.3932:0.0:0.2999	.	124	Q02386	ZNF45_HUMAN	S	124	ENSP00000269973:N124S	ENSP00000269973:N124S	N	-	2	0	ZNF45	49111057	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-0.110000	0.10824	-0.355000	0.08199	0.260000	0.18958	AAT		0.403	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		12	34	0	0	0	1	0	12	34				
SVEP1	79987	broad.mit.edu	37	9	113171109	113171109	+	Silent	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:113171109C>G	ENST00000401783.2	-	38	7107	c.6771G>C	c.(6769-6771)ctG>ctC	p.L2257L	SVEP1_ENST00000374469.1_Silent_p.L2234L|SVEP1_ENST00000297826.5_Silent_p.L183L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2257	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAACACACATCAGAGGGGATT	0.483																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(6769-6771)ctG>ctC		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							153.0	156.0	155.0					9																	113171109		2016	4194	6210	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113171109C>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6771G>C	9.37:g.113171109C>G						SVEP1_ENST00000374469.1_Silent_p.L2234L|SVEP1_ENST00000297826.5_Silent_p.L183L	p.L2257L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	7107	-			2257			Sushi 14.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.6771G>C	CCDS48004.1																																																																																				0.483	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				49	159	0	0	0	1	0	49	159				
ASAP2	8853	broad.mit.edu	37	2	9484911	9484911	+	Silent	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:9484911G>C	ENST00000281419.3	+	11	1345	c.1005G>C	c.(1003-1005)ctG>ctC	p.L335L	ASAP2_ENST00000315273.4_Silent_p.L335L	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	335	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ATGGTTTTCTGACCATATCCC	0.408																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(1003-1005)ctG>ctC		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							152.0	137.0	142.0					2																	9484911		2203	4300	6503	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9484911G>C	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1005G>C	2.37:g.9484911G>C						ASAP2_ENST00000315273.4_Silent_p.L335L	p.L335L	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			11	1345	+			335			PH.		D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.1005G>C	CCDS1661.1																																																																																				0.408	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		10	24	0	0	0	1	0	10	24				
INPPL1	3636	broad.mit.edu	37	11	71949087	71949087	+	Splice_Site	SNP	C	C	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:71949087C>A	ENST00000298229.2	+	27	3758	c.3554C>A	c.(3553-3555)gCt>gAt	p.A1185D	PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000541756.1_Splice_Site_p.A943D|INPPL1_ENST00000538751.1_Splice_Site_p.A943D	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1185					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.A1185D(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTCCTTAGGCTCCGTGCCTG	0.657											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000298229.2																			2	Substitution - Missense(2)	p.A1185D(2)	urinary_tract(1)|prostate(1)	breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e27-1		inositol polyphosphate phosphatase-like 1							15.0	17.0	17.0					11																	71949087		2197	4291	6488	SO:0001630	splice_region_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71949087C>A	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3553-1C>A	11.37:g.71949087C>A			OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1133	INPPL1_ENST00000538751.1_Splice_Site_p.A943_splice|INPPL1_ENST00000541756.1_Splice_Site_p.A943_splice	p.A1185_splice	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN			27	3758	+			1185					B2RTX5|Q13577|Q13578	Splice_Site	SNP	ENST00000298229.2	37	c.3552_splice	CCDS8213.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.01|12.01	1.810120|1.810120	0.32053|0.32053	.|.	.|.	ENSG00000165458|ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751|ENST00000320683	D;D;D|.	0.96716|.	-2.99;-4.1;-4.1|.	4.69|4.69	2.76|2.76	0.32466|0.32466	.|.	0.083463|.	0.47093|.	D|.	0.000259|.	T|T	0.34600|0.34600	0.0903|0.0903	N|N	0.14661|0.14661	0.345|0.345	0.36357|0.36357	D|D	0.860441|0.860441	P|.	0.44090|.	0.826|.	B|.	0.38655|.	0.278|.	T|T	0.28681|0.28681	-1.0036|-1.0036	10|5	0.44086|.	T|.	0.13|.	.|.	7.041|7.041	0.25021|0.25021	0.0:0.6953:0.1561:0.1486|0.0:0.6953:0.1561:0.1486	.|.	1185|.	O15357|.	SHIP2_HUMAN|.	D|I	1185;943;943|47	ENSP00000298229:A1185D;ENSP00000446360:A943D;ENSP00000444619:A943D|.	ENSP00000298229:A1185D|.	A|L	+|+	2|1	0|0	INPPL1|INPPL1	71626735|71626735	0.671000|0.671000	0.27521|0.27521	1.000000|1.000000	0.80357|0.80357	0.421000|0.421000	0.31385|0.31385	1.197000|1.197000	0.32211|0.32211	1.184000|1.184000	0.42957|0.42957	0.591000|0.591000	0.81541|0.81541	GCT|CTC		0.657	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567	Missense_Mutation	4	13	1	0	1	1	1	4	13				
VPS13A	23230	broad.mit.edu	37	9	79895113	79895113	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:79895113G>C	ENST00000360280.3	+	27	3123	c.2863G>C	c.(2863-2865)Gat>Cat	p.D955H	VPS13A_ENST00000376636.3_Missense_Mutation_p.D955H|VPS13A_ENST00000357409.5_Missense_Mutation_p.D955H|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.D955H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	955					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TACAACCCTGGATAACACAAT	0.303																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(2863-2865)Gat>Cat		vacuolar protein sorting 13 homolog A (S. cerevisiae)							104.0	100.0	101.0					9																	79895113		2203	4298	6501	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79895113G>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2863G>C	9.37:g.79895113G>C	ENSP00000353422:p.Asp955His					VPS13A_ENST00000376636.3_Missense_Mutation_p.D955H|VPS13A_ENST00000357409.5_Missense_Mutation_p.D955H|VPS13A_ENST00000376634.4_Missense_Mutation_p.D955H|VPS13A_ENST00000423463.2_3'UTR	p.D955H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			27	3123	+			955					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.2863G>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137964	0.56936	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.66939	2.045	0.80722	D	1	P;D;D;D	0.89917	0.937;1.0;1.0;1.0	B;D;D;D	0.91635	0.43;0.999;0.998;0.998	T	0.21177	-1.0253	10	0.51188	T	0.08	.	18.3603	0.90372	0.0:0.0:1.0:0.0	.	955;955;955;955	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	H	955	ENSP00000365821:D955H;ENSP00000365823:D955H;ENSP00000353422:D955H;ENSP00000349985:D955H	ENSP00000349985:D955H	D	+	1	0	VPS13A	79084933	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.524000	0.81866	2.501000	0.84356	0.462000	0.41574	GAT		0.303	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		11	32	0	0	0	1	0	11	32				
NLRP10	338322	broad.mit.edu	37	11	7982199	7982199	+	Silent	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:7982199C>T	ENST00000328600.2	-	2	1121	c.960G>A	c.(958-960)agG>agA	p.R320R		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	320	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTACCTCGCCCTCTCCTCCT	0.517																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(958-960)agG>agA		NLR family, pyrin domain containing 10							112.0	109.0	110.0					11																	7982199		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7982199C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.960G>A	11.37:g.7982199C>T							p.R320R	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1121	-			320			NACHT.		Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.960G>A	CCDS7784.1																																																																																				0.517	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		26	62	0	0	0	1	0	26	62				
BSX	390259	broad.mit.edu	37	11	122848402	122848402	+	Silent	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:122848402G>A	ENST00000343035.2	-	3	705	c.657C>T	c.(655-657)gaC>gaT	p.D219D		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	219					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CGTCTCCAATGTCCACCTCGT	0.736																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(655-657)gaC>gaT		brain-specific homeobox							27.0	29.0	28.0					11																	122848402		1947	4124	6071	SO:0001819	synonymous_variant	390259							g.chr11:122848402G>A		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.657C>T	11.37:g.122848402G>A							p.D219D	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	3	705	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	219						Silent	SNP	ENST00000343035.2	37	c.657C>T	CCDS41728.1																																																																																				0.736	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		18	40	0	0	0	1	0	18	40				
HLA-V	352962	broad.mit.edu	37	6	29761676	29761676	+	RNA	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:29761676C>G	ENST00000457107.1	+	0	902									major histocompatibility complex, class I, V (pseudogene)																		gagagggtttcatattcaaga	0.493																																						ENST00000457107.1																			0																																																			352962							g.chr6:29761676C>G	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761676C>G														0	902	+									RNA	SNP	ENST00000457107.1	37																																																																																						0.493	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		6	23	0	0	0	1	0	6	23				
AKAP9	10142	broad.mit.edu	37	7	91737898	91737898	+	Silent	SNP	T	T	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:91737898T>C	ENST00000359028.2	+	49	11874	c.11649T>C	c.(11647-11649)taT>taC	p.Y3883Y	AKAP9_ENST00000356239.3_Silent_p.Y3879Y|AKAP9_ENST00000358100.2_Silent_p.Y3829Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3883					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAACAGATTATATCACTCGGC	0.478			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11647-11649)taT>taC		A kinase (PRKA) anchor protein 9							97.0	89.0	92.0					7																	91737898		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91737898T>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11649T>C	7.37:g.91737898T>C						AKAP9_ENST00000358100.2_Silent_p.Y3829Y|AKAP9_ENST00000356239.3_Silent_p.Y3879Y	p.Y3883Y			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		49	11874	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3883					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.11649T>C																																																																																					0.478	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		16	37	0	0	0	1	0	16	37				
HN1L	90861	broad.mit.edu	37	16	1735475	1735475	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr16:1735475T>G	ENST00000248098.3	+	2	137	c.80T>G	c.(79-81)cTt>cGt	p.L27R	HN1L_ENST00000569256.1_Intron|LA16c-431H6.6_ENST00000454337.1_3'UTR|HN1L_ENST00000382710.4_Missense_Mutation_p.L15R|HN1L_ENST00000382711.5_Missense_Mutation_p.L11R|HN1L_ENST00000569765.1_Missense_Mutation_p.L55R|HN1L_ENST00000562684.1_Missense_Mutation_p.L55R|HN1L_ENST00000561516.1_Missense_Mutation_p.L27R	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	27						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						TCGAGCAATCTTTTTGGAAGT	0.473																																						ENST00000248098.3																			0				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(79-81)cTt>cGt		hematological and neurological expressed 1-like							87.0	84.0	85.0					16																	1735475		2199	4300	6499	SO:0001583	missense	90861					cytoplasm|nucleus		g.chr16:1735475T>G	AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 34"""	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.80T>G	16.37:g.1735475T>G	ENSP00000248098:p.Leu27Arg					HN1L_ENST00000569765.1_Missense_Mutation_p.L55R|HN1L_ENST00000562684.1_Missense_Mutation_p.L55R|HN1L_ENST00000569256.1_Intron|LA16c-431H6.6_ENST00000454337.1_3'UTR|HN1L_ENST00000382710.4_Missense_Mutation_p.L15R|HN1L_ENST00000382711.5_Missense_Mutation_p.L11R|HN1L_ENST00000561516.1_Missense_Mutation_p.L27R	p.L27R	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN			2	137	+			27					B1AJY2|Q6EIC7	Missense_Mutation	SNP	ENST00000248098.3	37	c.80T>G	CCDS10441.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112786	0.77210	.	.	ENSG00000206053	ENST00000248098;ENST00000382711;ENST00000414325;ENST00000382710	T;T	0.48522	0.81;0.81	5.78	2.22	0.28083	.	0.226724	0.37809	N	0.001939	T	0.60741	0.2292	M	0.73962	2.25	0.42819	D	0.993987	D;D;D;D;D	0.71674	0.979;0.998;0.995;0.998;0.989	P;D;D;D;P	0.65443	0.839;0.914;0.92;0.935;0.839	T	0.58064	-0.7702	10	0.59425	D	0.04	-11.8013	6.4962	0.22144	0.0:0.1427:0.1306:0.7266	.	15;55;55;27;27	A6NGP5;B4E1P3;B4DLH4;B4DL85;Q9H910	.;.;.;.;HN1L_HUMAN	R	27;55;27;15	ENSP00000248098:L27R;ENSP00000372157:L15R	ENSP00000248098:L27R	L	+	2	0	HN1L	1675476	1.000000	0.71417	0.007000	0.13788	0.998000	0.95712	4.385000	0.59613	0.103000	0.17682	0.533000	0.62120	CTT		0.473	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109086.2	NM_144570		33	41	0	0	0	1	0	33	41				
DNM2	1785	broad.mit.edu	37	19	10897294	10897294	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:10897294A>T	ENST00000355667.6	+	7	984	c.904A>T	c.(904-906)Agc>Tgc	p.S302C	DNM2_ENST00000408974.4_Missense_Mutation_p.S302C|DNM2_ENST00000585892.1_Missense_Mutation_p.S302C|DNM2_ENST00000314646.5_Missense_Mutation_p.S302C|DNM2_ENST00000389253.4_Missense_Mutation_p.S302C|DNM2_ENST00000359692.6_Missense_Mutation_p.S302C	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	302					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CAAACTACAGAGCCAGCTGCT	0.592			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(904-906)Agc>Tgc		dynamin 2							116.0	102.0	107.0					19																	10897294		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10897294A>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.904A>T	19.37:g.10897294A>T	ENSP00000347890:p.Ser302Cys					DNM2_ENST00000408974.4_Missense_Mutation_p.S302C|DNM2_ENST00000359692.6_Missense_Mutation_p.S302C|DNM2_ENST00000355667.6_Missense_Mutation_p.S302C|DNM2_ENST00000389253.4_Missense_Mutation_p.S302C|DNM2_ENST00000585892.1_Missense_Mutation_p.S302C	p.S302C			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		7	1068	+			302					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.904A>T	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125264	0.77436	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82	5.03	5.03	0.67393	Dynamin central domain (1);	0.260257	0.45606	D	0.000356	D	0.97371	0.9140	M	0.82517	2.595	0.52501	D	0.999951	D;D;D;D;D	0.69078	0.997;0.987;0.986;0.987;0.997	D;P;P;P;P	0.64687	0.928;0.763;0.738;0.763;0.886	D	0.98018	1.0369	10	0.87932	D	0	-9.7986	13.7568	0.62942	1.0:0.0:0.0:0.0	.	35;302;302;302;302	B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;DYN2_HUMAN;.	C	291;302;302;302;302;302	ENSP00000386192:S302C;ENSP00000347890:S302C;ENSP00000352721:S302C;ENSP00000373905:S302C;ENSP00000313164:S302C	ENSP00000313164:S302C	S	+	1	0	DNM2	10758294	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.213000	0.65230	1.886000	0.54624	0.533000	0.62120	AGC		0.592	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		23	57	0	0	0	1	0	23	57				
PITX2	5308	broad.mit.edu	37	4	111539828	111539828	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:111539828C>T	ENST00000354925.2	-	7	2112	c.407G>A	c.(406-408)cGt>cAt	p.R136H	PITX2_ENST00000355080.5_Missense_Mutation_p.R90H|PITX2_ENST00000306732.3_Missense_Mutation_p.R143H|PITX2_ENST00000394595.3_Silent_p.S67S|PITX2_ENST00000394598.2_Missense_Mutation_p.R136H|PITX2_ENST00000556049.1_5'UTR	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	136			R -> C (in RIEG1). {ECO:0000269|PubMed:10937553, ECO:0000269|PubMed:12381896}.		atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TTTGGCCCGACGATTCTTGAA	0.582																																						ENST00000354925.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10	GRCh37	CM024244	PITX2	M		c.(406-408)cGt>cAt		paired-like homeodomain 2							75.0	76.0	75.0					4																	111539828		2203	4300	6503	SO:0001583	missense	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr4:111539828C>T	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.407G>A	4.37:g.111539828C>T	ENSP00000347004:p.Arg136His					PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000394595.3_Silent_p.S67S|PITX2_ENST00000306732.3_Missense_Mutation_p.R143H|PITX2_ENST00000394598.2_Missense_Mutation_p.R136H|PITX2_ENST00000355080.5_Missense_Mutation_p.R90H	p.R136H	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	7	2112	-		Hepatocellular(203;0.217)	136		R -> C (in RIEG1).			A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	c.407G>A	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	C	34	5.329975	0.95733	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000556049;ENST00000511990	D;D;D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42;-4.42;-4.42	4.75	4.75	0.60458	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.055106	0.64402	D	0.000001	D	0.99070	0.9681	H	0.97340	3.985	0.80722	D	1	D;P;D;D	0.89917	0.996;0.948;1.0;1.0	D;B;D;D	0.77557	0.927;0.361;0.988;0.99	D	0.99097	1.0842	10	0.87932	D	0	.	17.9286	0.88991	0.0:1.0:0.0:0.0	.	90;90;136;143	A8K6C6;Q99697-3;Q99697;Q99697-2	.;.;PITX2_HUMAN;.	H	143;136;90;136;136;60;90	ENSP00000304169:R143H;ENSP00000378097:R136H;ENSP00000347192:R90H;ENSP00000347004:R136H;ENSP00000421454:R136H;ENSP00000450938:R60H;ENSP00000424142:R90H	ENSP00000304169:R143H	R	-	2	0	PITX2	111759277	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.320000	0.79064	2.625000	0.88918	0.563000	0.77884	CGT		0.582	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			19	81	0	0	0	1	0	19	81				
RNF182	221687	broad.mit.edu	37	6	13977405	13977405	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:13977405G>C	ENST00000488300.1	+	3	578	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	RNF182_ENST00000537388.1_Missense_Mutation_p.E19Q|RNF182_ENST00000544682.1_Missense_Mutation_p.E19Q|RNF182_ENST00000537663.1_Missense_Mutation_p.E19Q	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	19					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TGATGAGCTGGAGTGCAAAAT	0.458																																						ENST00000488300.1																			0				cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(55-57)Gag>Cag		ring finger protein 182							116.0	117.0	117.0					6																	13977405		2203	4300	6503	SO:0001583	missense	221687					cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:13977405G>C	AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.55G>C	6.37:g.13977405G>C	ENSP00000420465:p.Glu19Gln					RNF182_ENST00000537388.1_Missense_Mutation_p.E19Q|RNF182_ENST00000537663.1_Missense_Mutation_p.E19Q|RNF182_ENST00000544682.1_Missense_Mutation_p.E19Q	p.E19Q	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	Epithelial(50;0.195)		3	578	+	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	19					B2RDG2|Q8NBG3	Missense_Mutation	SNP	ENST00000488300.1	37	c.55G>C	CCDS4531.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494443	0.85069	.	.	ENSG00000180537	ENST00000488763;ENST00000537663;ENST00000488300;ENST00000544682;ENST00000420478;ENST00000423553;ENST00000537388	D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.07;-3.14	4.89	4.89	0.63831	Zinc finger, RING/FYVE/PHD-type (1);	0.051173	0.85682	D	0.000000	D	0.91030	0.7178	L	0.55103	1.725	0.58432	D	0.999993	P	0.49783	0.928	P	0.51135	0.66	D	0.89531	0.3785	10	0.33141	T	0.24	-24.0234	18.2415	0.89969	0.0:0.0:1.0:0.0	.	19	Q8N6D2	RN182_HUMAN	Q	19	ENSP00000417500:E19Q;ENSP00000443228:E19Q;ENSP00000420465:E19Q;ENSP00000442021:E19Q;ENSP00000419329:E19Q;ENSP00000418717:E19Q;ENSP00000441271:E19Q	ENSP00000419329:E19Q	E	+	1	0	RNF182	14085384	1.000000	0.71417	0.974000	0.42286	0.859000	0.49053	9.176000	0.94839	2.543000	0.85770	0.563000	0.77884	GAG		0.458	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2	NM_152737		26	82	0	0	0	1	0	26	82				
RIC8B	55188	broad.mit.edu	37	12	107245283	107245283	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:107245283G>C	ENST00000392839.2	+	7	1323	c.1217G>C	c.(1216-1218)aGa>aCa	p.R406T	RIC8B_ENST00000392837.4_Missense_Mutation_p.R406T|RIC8B_ENST00000355478.2_Missense_Mutation_p.R366T|RIC8B_ENST00000549643.1_Intron	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	406					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TCAACTGTGAGAAATAAGCTG	0.443																																						ENST00000392837.4																			0				kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(1216-1218)aGa>aCa		RIC8 guanine nucleotide exchange factor B							182.0	156.0	165.0					12																	107245283		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107245283G>C	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.1217G>C	12.37:g.107245283G>C	ENSP00000376583:p.Arg406Thr					RIC8B_ENST00000392839.2_Missense_Mutation_p.R406T|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.R366T	p.R406T			Q9NVN3	RIC8B_HUMAN			7	1368	+			406					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.1217G>C	CCDS9109.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.165917|5.165917	0.94768|0.94768	.|.	.|.	ENSG00000111785|ENSG00000111785	ENST00000548914|ENST00000392837;ENST00000392839;ENST00000355478	.|T;T;T	.|0.47177	.|0.85;0.85;0.85	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Synembryn (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73094|0.73094	0.3543|0.3543	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.87578	.|0.996;0.997;0.998	T|T	0.72107|0.72107	-0.4390|-0.4390	5|10	.|0.34782	.|T	.|0.22	-6.8024|-6.8024	19.6028|19.6028	0.95570|0.95570	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|366;406;406	.|Q9NVN3-3;Q9NVN3;B7WPL0	.|.;RIC8B_HUMAN;.	Q|T	231|406;406;366	.|ENSP00000376582:R406T;ENSP00000376583:R406T;ENSP00000347662:R366T	.|ENSP00000347662:R366T	E|R	+|+	1|2	0|0	RIC8B|RIC8B	105769413|105769413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.648000|2.648000	0.89879|0.89879	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.443	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		19	31	0	0	0	1	0	19	31				
ZNF737	100129842	broad.mit.edu	37	19	20728308	20728308	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:20728308C>T	ENST00000427401.4	-	4	795	c.701G>A	c.(700-702)tGt>tAt	p.C234Y		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GGCTTTGCCACAGTCTTCACA	0.408																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(700-702)tGt>tAt		zinc finger protein 737							37.0	37.0	37.0					19																	20728308		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728308C>T	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.701G>A	19.37:g.20728308C>T	ENSP00000395733:p.Cys234Tyr						p.C234Y	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	795	-			234					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.701G>A	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	13.61	2.288892	0.40494	.	.	ENSG00000237440	ENST00000427401	D	0.85861	-2.04	0.801	0.801	0.18679	.	.	.	.	.	D	0.92410	0.7591	H	0.96269	3.795	0.34221	D	0.675435	D	0.69078	0.997	P	0.61003	0.882	D	0.91668	0.5348	9	0.72032	D	0.01	.	6.955	0.24565	0.0:1.0:0.0:0.0	.	234	C9JHM3	.	Y	234	ENSP00000395733:C234Y	ENSP00000395733:C234Y	C	-	2	0	ZNF737	20520148	1.000000	0.71417	0.034000	0.17996	0.034000	0.12701	4.976000	0.63785	0.170000	0.19704	0.173000	0.16961	TGT		0.408	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		4	13	0	0	0	1	0	4	13				
NBPF10	100132406	broad.mit.edu	37	1	145293465	145293465	+	Silent	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:145293465C>T	ENST00000369339.3	+	3	313	c.60C>T	c.(58-60)atC>atT	p.I20I	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000342960.5_Silent_p.I20I			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	291						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTCTAGAAATCAACGAGACAT	0.527																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(58-60)atC>atT		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145293465C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.60C>T	1.37:g.145293465C>T						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Silent_p.I20I	p.I20I	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	95	+	all_hematologic(923;0.032)		20					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.60C>T																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		31	580	0	0	0	1	0	31	580				
ARHGAP15	55843	broad.mit.edu	37	2	144381701	144381701	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:144381701G>A	ENST00000295095.6	+	12	1170		c.e12-1			NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15						positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGTTTTCCCAGAAGAGAAGCT	0.453																																						ENST00000295095.6																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.e12-1		Rho GTPase activating protein 15							83.0	81.0	81.0					2																	144381701		2203	4300	6503	SO:0001630	splice_region_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144381701G>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1004-1G>A	2.37:g.144381701G>A								NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	12	1170	+								Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Splice_Site	SNP	ENST00000295095.6	37		CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695223	0.68386	.	.	ENSG00000075884	ENST00000295095	.	.	.	6.07	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3608	0.74472	0.0665:0.0:0.9335:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP15	144098171	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.624000	0.74243	1.591000	0.50007	-0.142000	0.14014	.		0.453	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460	Intron	14	40	0	0	0	1	0	14	40				
RYR2	6262	broad.mit.edu	37	1	237617746	237617746	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:237617746G>C	ENST00000366574.2	+	15	1665	c.1348G>C	c.(1348-1350)Gag>Cag	p.E450Q	RYR2_ENST00000542537.1_Missense_Mutation_p.E434Q|RYR2_ENST00000360064.6_Missense_Mutation_p.E448Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	450					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGCCTATAGAGTCCGTAAG	0.448																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1348-1350)Gag>Cag		ryanodine receptor 2 (cardiac)							93.0	89.0	90.0					1																	237617746		1909	4119	6028	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237617746G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1348G>C	1.37:g.237617746G>C	ENSP00000355533:p.Glu450Gln					RYR2_ENST00000542537.1_Missense_Mutation_p.E434Q|RYR2_ENST00000360064.6_Missense_Mutation_p.E448Q	p.E450Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		15	1665	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	450					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1348G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719700	0.48728	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.88431	-2.38;-2.38;-2.38	5.87	4.95	0.65309	.	0.085006	0.45606	U	0.000345	D	0.86239	0.5885	L	0.55990	1.75	0.80722	D	1	P	0.42827	0.791	B	0.37650	0.255	D	0.85532	0.1210	10	0.38643	T	0.18	.	16.3477	0.83150	0.0:0.0:0.8668:0.1332	.	450	Q92736	RYR2_HUMAN	Q	450;448;434	ENSP00000355533:E450Q;ENSP00000353174:E448Q;ENSP00000443798:E434Q	ENSP00000353174:E448Q	E	+	1	0	RYR2	235684369	1.000000	0.71417	0.349000	0.25694	0.006000	0.05464	9.804000	0.99143	1.469000	0.48083	0.551000	0.68910	GAG		0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	27	0	0	0	1	0	11	27				
ACTG2	72	broad.mit.edu	37	2	74141917	74141917	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:74141917G>C	ENST00000409624.1	+	8	1367	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	ACTG2_ENST00000409731.3_Missense_Mutation_p.E199Q|ACTG2_ENST00000345517.3_Missense_Mutation_p.E242Q			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	242					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						GAAGAGCTATGAGCTGCCAGA	0.537																																						ENST00000409624.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(724-726)Gag>Cag		actin, gamma 2, smooth muscle, enteric							80.0	75.0	76.0					2																	74141917		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74141917G>C		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.724G>C	2.37:g.74141917G>C	ENSP00000386857:p.Glu242Gln					ACTG2_ENST00000345517.3_Missense_Mutation_p.E242Q|ACTG2_ENST00000409731.3_Missense_Mutation_p.E199Q	p.E242Q			P63267	ACTH_HUMAN			8	1367	+			242					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.724G>C	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588095	0.66105	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.95238	-3.65;-3.65;-3.65	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.96836	0.8967	M	0.78916	2.43	0.48901	D	0.999721	P;P	0.48694	0.914;0.612	D;P	0.63033	0.91;0.795	D	0.97385	0.9985	10	0.87932	D	0	.	16.6898	0.85318	0.0:0.0:1.0:0.0	.	199;242	E9PG30;P63267	.;ACTH_HUMAN	Q	199;242;242	ENSP00000386929:E199Q;ENSP00000295137:E242Q;ENSP00000386857:E242Q	ENSP00000295137:E242Q	E	+	1	0	ACTG2	73995425	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.555000	0.98123	2.538000	0.85594	0.462000	0.41574	GAG		0.537	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		16	42	0	0	0	1	0	16	42				
ARHGAP20	57569	broad.mit.edu	37	11	110456955	110456955	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:110456955A>C	ENST00000260283.4	-	13	1684	c.1400T>G	c.(1399-1401)aTa>aGa	p.I467R	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I441R|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I431R|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I444R|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I10R|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I431R|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I441R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	467	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AACAGTATTTATTTTCTCTTC	0.264																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(1399-1401)aTa>aGa		Rho GTPase activating protein 20							55.0	59.0	58.0					11																	110456955		2200	4288	6488	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110456955A>C	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1400T>G	11.37:g.110456955A>C	ENSP00000260283:p.Ile467Arg					ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I10R|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I431R|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I431R|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I441R|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I441R|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I444R	p.I467R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	13	1684	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	467			Rho-GAP.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.1400T>G	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.695076	0.68386	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.47528	0.84;0.84;1.82;0.84;0.84;0.84;0.84	6.08	6.08	0.98989	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.049156	0.85682	D	0.000000	T	0.67767	0.2928	M	0.67700	2.07	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.998	T	0.67457	-0.5666	10	0.46703	T	0.11	.	16.6534	0.85222	1.0:0.0:0.0:0.0	.	441;467;444	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	R	467;441;10;444;431;441;431	ENSP00000260283:I467R;ENSP00000349660:I441R;ENSP00000437905:I10R;ENSP00000432076:I444R;ENSP00000436319:I431R;ENSP00000436522:I441R;ENSP00000431399:I431R	ENSP00000260283:I467R	I	-	2	0	ARHGAP20	109962165	1.000000	0.71417	0.990000	0.47175	0.709000	0.40893	6.435000	0.73412	2.334000	0.79466	0.528000	0.53228	ATA		0.264	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		18	26	0	0	0	1	0	18	26				
WISP1	8840	broad.mit.edu	37	8	134232846	134232846	+	Silent	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:134232846C>T	ENST00000250160.6	+	3	478	c.372C>T	c.(370-372)gtC>gtT	p.V124V	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	124	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGGGCTGCGTCCTGGATGGGG	0.642																																						ENST00000250160.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(370-372)gtC>gtT		WNT1 inducible signaling pathway protein 1							85.0	70.0	75.0					8																	134232846		2203	4300	6503	SO:0001819	synonymous_variant	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134232846C>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.372C>T	8.37:g.134232846C>T						WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron	p.V124V	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	478	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		124			VWFC.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	c.372C>T	CCDS6371.1																																																																																				0.642	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		20	106	0	0	0	1	0	20	106				
UBE3B	89910	broad.mit.edu	37	12	109937499	109937499	+	Silent	SNP	C	C	T	rs543547516		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:109937499C>T	ENST00000342494.3	+	12	1597	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	UBE3B_ENST00000434735.2_Silent_p.F334F|UBE3B_ENST00000280774.5_Silent_p.F334F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	334					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CAGATGGGTTCGTGAGTTTGC	0.557																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(1000-1002)ttC>ttT		ubiquitin protein ligase E3B							140.0	113.0	122.0					12																	109937499		2203	4300	6503	SO:0001819	synonymous_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109937499C>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1002C>T	12.37:g.109937499C>T						UBE3B_ENST00000280774.5_Silent_p.F334F|UBE3B_ENST00000434735.2_Silent_p.F334F	p.F334F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			12	1597	+			334					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	c.1002C>T	CCDS9129.1																																																																																				0.557	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		6	16	0	0	0	1	0	6	16				
TMPPE	643853	broad.mit.edu	37	3	33134654	33134654	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:33134654G>A	ENST00000342462.4	-	2	1224	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F	GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.S208F|GLB1_ENST00000307363.5_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	345						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GCCATGGCCAGAGTAGTGCAG	0.592																																						ENST00000342462.4																			0				breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						c.(1033-1035)tCt>tTt		transmembrane protein with metallophosphoesterase domain							147.0	135.0	139.0					3																	33134654		2203	4300	6503	SO:0001583	missense	643853					integral to membrane	metal ion binding	g.chr3:33134654G>A	AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.1034C>T	3.37:g.33134654G>A	ENSP00000343398:p.Ser345Phe					GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.S208F|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron	p.S345F	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN			2	1224	-			345					B2RNG5|Q6ZRG1	Missense_Mutation	SNP	ENST00000342462.4	37	c.1034C>T	CCDS33732.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398970	0.42512	.	.	ENSG00000188167	ENST00000416695;ENST00000342462	D;D	0.84442	-1.85;-1.85	5.91	5.02	0.67125	Metallophosphoesterase domain (1);	0.313152	0.25759	N	0.028500	T	0.77405	0.4125	L	0.37561	1.115	0.33826	D	0.629615	P	0.36330	0.548	B	0.29524	0.103	T	0.82808	-0.0274	10	0.45353	T	0.12	-6.4879	14.2316	0.65895	0.0:0.0:0.8424:0.1576	.	345	Q6ZT21	TMPPE_HUMAN	F	208;345	ENSP00000400715:S208F;ENSP00000343398:S345F	ENSP00000343398:S345F	S	-	2	0	TMPPE	33109658	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	3.910000	0.56371	1.456000	0.47831	0.655000	0.94253	TCT		0.592	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770		73	45	0	0	0	1	0	73	45				
TLN1	7094	broad.mit.edu	37	9	35715165	35715165	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:35715165T>G	ENST00000314888.9	-	21	2998	c.2645A>C	c.(2644-2646)gAc>gCc	p.D882A	TLN1_ENST00000540444.1_Missense_Mutation_p.D882A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	882					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCTCACTGTCAGGGTGGGC	0.597																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2644-2646)gAc>gCc		talin 1							28.0	30.0	29.0					9																	35715165		2198	4296	6494	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35715165T>G	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2645A>C	9.37:g.35715165T>G	ENSP00000316029:p.Asp882Ala					TLN1_ENST00000540444.1_Missense_Mutation_p.D882A	p.D882A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		21	2998	-	all_epithelial(49;0.167)		882					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2645A>C	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.450162	0.63290	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.69175	-0.34;-0.38	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	L	0.34521	1.04	0.80722	D	1	B	0.32051	0.354	B	0.25987	0.065	T	0.55205	-0.8177	10	0.37606	T	0.19	-23.1839	15.909	0.79456	0.0:0.0:0.0:1.0	.	882	Q9Y490	TLN1_HUMAN	A	882	ENSP00000316029:D882A;ENSP00000442981:D882A	ENSP00000316029:D882A	D	-	2	0	TLN1	35705165	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	8.005000	0.88553	2.155000	0.67459	0.459000	0.35465	GAC		0.597	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		14	36	0	0	0	1	0	14	36				
ZBTB3	79842	broad.mit.edu	37	11	62520755	62520755	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:62520755C>T	ENST00000394807.3	-	2	657	c.532G>A	c.(532-534)Gac>Aac	p.D178N		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TTGGTACTGTCTGCCTCTGCC	0.552																																						ENST00000394807.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(532-534)Gac>Aac		zinc finger and BTB domain containing 3							96.0	98.0	97.0					11																	62520755		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62520755C>T	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.532G>A	11.37:g.62520755C>T	ENSP00000378286:p.Asp178Asn						p.D178N	NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN			2	657	-			178						Missense_Mutation	SNP	ENST00000394807.3	37	c.532G>A	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719349	0.89205	.	.	ENSG00000185670	ENST00000394807	T	0.15139	2.45	5.74	5.74	0.90152	.	0.046170	0.85682	D	0.000000	T	0.22475	0.0542	N	0.19112	0.55	0.50632	D	0.999887	D	0.65815	0.995	P	0.56751	0.805	T	0.02208	-1.1195	10	0.23891	T	0.37	.	17.4202	0.87513	0.0:1.0:0.0:0.0	.	178	Q9H5J0	ZBTB3_HUMAN	N	178	ENSP00000378286:D178N	ENSP00000378286:D178N	D	-	1	0	ZBTB3	62277331	1.000000	0.71417	0.967000	0.41034	0.968000	0.65278	7.484000	0.81180	2.700000	0.92200	0.561000	0.74099	GAC		0.552	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		33	103	0	0	0	1	0	33	103				
NOTCH2NL	388677	broad.mit.edu	37	1	145273377	145273377	+	Silent	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:145273377G>C	ENST00000369340.3	+	4	675	c.231G>C	c.(229-231)ctG>ctC	p.L77L	NOTCH2NL_ENST00000362074.6_Silent_p.L77L|RP11-458D21.5_ENST00000468030.1_Silent_p.L77L|NOTCH2NL_ENST00000344859.3_Silent_p.L77L			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	77	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GACCTTGCCTGAATGGCGGCA	0.532																																						ENST00000369340.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(229-231)ctG>ctC		notch 2 N-terminal like							454.0	416.0	429.0					1																	145273377		2203	4300	6503	SO:0001819	synonymous_variant	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273377G>C		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.231G>C	1.37:g.145273377G>C						RP11-458D21.5_ENST00000468030.1_Silent_p.L77L|NOTCH2NL_ENST00000344859.3_Silent_p.L77L|NOTCH2NL_ENST00000362074.6_Silent_p.L77L	p.L77L			Q7Z3S9	NT2NL_HUMAN			4	675	+			77			EGF-like 3.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Silent	SNP	ENST00000369340.3	37	c.231G>C	CCDS909.1																																																																																				0.532	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		29	351	0	0	0	1	0	29	351				
ZNF112	7771	broad.mit.edu	37	19	44832582	44832582	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:44832582T>A	ENST00000337401.4	-	5	1834	c.1746A>T	c.(1744-1746)aaA>aaT	p.K582N	ZNF112_ENST00000354340.4_Missense_Mutation_p.K576N|ZNF112_ENST00000536500.1_Missense_Mutation_p.K599N	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	582					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ATTCCTCACATTTATAAGGTT	0.438																																						ENST00000354340.4																			0											c.(1726-1728)aaA>aaT		zinc finger protein 112							150.0	152.0	151.0					19																	44832582		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44832582T>A	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1746A>T	19.37:g.44832582T>A	ENSP00000337081:p.Lys582Asn					ZNF112_ENST00000536500.1_Missense_Mutation_p.K599N|ZNF112_ENST00000337401.4_Missense_Mutation_p.K582N	p.K576N	NM_013380.3	NP_037512.3					4	1779	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.1728A>T	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.814178	0.50527	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.36157	3.08;1.27;3.08	5.1	-0.391	0.12446	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36303	N	0.002669	T	0.50137	0.1598	M	0.81614	2.55	0.24709	N	0.993218	D;D;D	0.69078	0.997;0.996;0.997	P;P;P	0.62089	0.898;0.836;0.898	T	0.43163	-0.9408	10	0.72032	D	0.01	-15.9512	5.3629	0.16098	0.1352:0.3899:0.0:0.475	.	581;599;582	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	N	582;582;576;599;581	ENSP00000337081:K582N;ENSP00000346305:K576N;ENSP00000441990:K599N	ENSP00000253426:K581N	K	-	3	2	ZNF285	49524422	0.000000	0.05858	0.967000	0.41034	0.982000	0.71751	-2.028000	0.01431	-0.338000	0.08413	-0.250000	0.11733	AAA		0.438	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		48	95	0	0	0	1	0	48	95				
LRRTM1	347730	broad.mit.edu	37	2	80530351	80530351	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:80530351C>G	ENST00000295057.3	-	2	1250	c.594G>C	c.(592-594)aaG>aaC	p.K198N	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.K198N|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	198					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGCCAGACTCTTGAGCTGAT	0.587										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(592-594)aaG>aaC		leucine rich repeat transmembrane neuronal 1							71.0	73.0	72.0					2																	80530351		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530351C>G	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.594G>C	2.37:g.80530351C>G	ENSP00000295057:p.Lys198Asn	HNSCC(69;0.2)				CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.K198N|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	p.K198N	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1250	-			198					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.594G>C	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740587	0.49045	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268	T;T;T	0.79845	-1.31;-1.31;4.29	4.93	4.05	0.47172	.	0.060079	0.64402	U	0.000003	T	0.70325	0.3211	N	0.21142	0.635	0.58432	D	0.999993	P	0.39920	0.695	B	0.43225	0.412	T	0.65569	-0.6136	9	.	.	.	.	10.3765	0.44085	0.0:0.8405:0.0:0.1595	.	198	Q86UE6	LRRT1_HUMAN	N	198	ENSP00000295057:K198N;ENSP00000386646:K198N;ENSP00000415368:K198N	.	K	-	3	2	LRRTM1	80383862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.518000	0.45537	1.028000	0.39785	0.655000	0.94253	AAG		0.587	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		33	81	0	0	0	1	0	33	81				
GABRA6	2559	broad.mit.edu	37	5	161113252	161113252	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:161113252G>A	ENST00000274545.5	+	2	488	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	GABRA6_ENST00000523217.1_Missense_Mutation_p.G19R|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000522269.1_3'UTR			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	19					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AAATGCCCTAGGGAAACTCGA	0.473										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(55-57)Ggg>Agg		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						84.0	81.0	82.0					5																	161113252		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161113252G>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.55G>A	5.37:g.161113252G>A	ENSP00000274545:p.Gly19Arg	TCGA Ovarian(5;0.080)				GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000274545.5_Missense_Mutation_p.G19R	p.G19R	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	297	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	19					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.55G>A	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609772	0.66558	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	T;T	0.80480	-1.38;-0.63	5.63	4.75	0.60458	.	0.239842	0.41605	D	0.000851	T	0.74974	0.3787	N	0.08118	0	0.38113	D	0.937626	B	0.33413	0.411	P	0.47645	0.553	T	0.80301	-0.1440	10	0.72032	D	0.01	.	14.8355	0.70180	0.0695:0.0:0.9305:0.0	.	19	Q16445	GBRA6_HUMAN	R	19	ENSP00000274545:G19R;ENSP00000430527:G19R	ENSP00000274545:G19R	G	+	1	0	GABRA6	161045830	1.000000	0.71417	0.943000	0.38184	0.314000	0.28054	5.705000	0.68355	2.652000	0.90054	0.655000	0.94253	GGG		0.473	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			15	32	0	0	0	1	0	15	32				
STAT5A	6776	broad.mit.edu	37	17	40453425	40453425	+	Silent	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:40453425C>T	ENST00000345506.4	+	10	1764	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	STAT5A_ENST00000590949.1_Silent_p.I374I|STAT5A_ENST00000546010.2_Silent_p.I344I|STAT5A_ENST00000588868.1_Silent_p.I374I|STAT5A_ENST00000452307.2_Silent_p.I374I	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	374					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCACCATCATCAGTGAGCAGC	0.577																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1120-1122)atC>atT		signal transducer and activator of transcription 5A							130.0	112.0	118.0					17																	40453425		2203	4300	6503	SO:0001819	synonymous_variant	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40453425C>T	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1122C>T	17.37:g.40453425C>T						STAT5A_ENST00000452307.2_Silent_p.I374I|STAT5A_ENST00000546010.2_Silent_p.I344I|STAT5A_ENST00000590949.1_Silent_p.I374I|STAT5A_ENST00000588868.1_Silent_p.I374I	p.I374I	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	10	1764	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	374					Q1KLZ6	Silent	SNP	ENST00000345506.4	37	c.1122C>T	CCDS11424.1																																																																																				0.577	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		28	56	0	0	0	1	0	28	56				
DCPS	28960	broad.mit.edu	37	11	126215347	126215347	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:126215347T>A	ENST00000263579.4	+	6	1182	c.853T>A	c.(853-855)Ttc>Atc	p.F285I	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	285					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CGCCCTGGGCTTCGAGGCCCC	0.632																																						ENST00000263579.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(853-855)Ttc>Atc		decapping enzyme, scavenger							141.0	104.0	116.0					11																	126215347		2201	4298	6499	SO:0001583	missense	28960				deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126215347T>A	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.853T>A	11.37:g.126215347T>A	ENSP00000263579:p.Phe285Ile					DCPS_ENST00000530860.1_3'UTR	p.F285I	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	6	1182	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	285					Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	ENST00000263579.4	37	c.853T>A	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.372592	0.82573	.	.	ENSG00000110063	ENST00000263579	D	0.95980	-3.87	5.3	2.98	0.34508	Histidine triad-like motif (1);	0.109912	0.64402	D	0.000005	D	0.89238	0.6658	N	0.20986	0.625	0.35121	D	0.767044	P	0.38642	0.641	B	0.40506	0.331	D	0.86550	0.1834	10	0.29301	T	0.29	-20.7421	4.5539	0.12128	0.1449:0.1465:0.0:0.7086	.	285	Q96C86	DCPS_HUMAN	I	285	ENSP00000263579:F285I	ENSP00000263579:F285I	F	+	1	0	DCPS	125720557	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	3.971000	0.56831	0.845000	0.35118	0.529000	0.55759	TTC		0.632	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026		26	76	0	0	0	1	0	26	76				
LOC644669	644669	broad.mit.edu	37	18	15323336	15323336	+	RNA	SNP	G	G	A	rs199831831		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr18:15323336G>A	ENST00000455308.2	-	0	512				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						TTTCCTTATGGCCAATAAAAG	0.289													G|||	1	0.000199681	0.0	0.0	5008	,	,		16958	0.0		0.001	False		,,,				2504	0.0					ENST00000455308.2																			0																																																			644669							g.chr18:15323336G>A																													18.37:g.15323336G>A								NR_027417.1						0	512	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.289	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			3	6	0	0	0	1	0	3	6				
SMYD4	114826	broad.mit.edu	37	17	1703375	1703375	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:1703375T>C	ENST00000305513.7	-	5	1480	c.1313A>G	c.(1312-1314)gAg>gGg	p.E438G		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	438	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GAATTTGTGCTCTGGGCTATG	0.453																																						ENST00000305513.7																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						c.(1312-1314)gAg>gGg		SET and MYND domain containing 4							97.0	93.0	94.0					17																	1703375		2203	4300	6503	SO:0001583	missense	114826						zinc ion binding	g.chr17:1703375T>C	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1313A>G	17.37:g.1703375T>C	ENSP00000304360:p.Glu438Gly						p.E438G	NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN			5	1480	-			438					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	ENST00000305513.7	37	c.1313A>G	CCDS11013.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622742	0.46840	.	.	ENSG00000186532	ENST00000305513	T	0.12465	2.68	6.03	3.83	0.44106	SET domain (2);	0.310984	0.37955	N	0.001878	T	0.18800	0.0451	M	0.66378	2.025	0.42964	D	0.994419	B	0.32203	0.36	B	0.40565	0.333	T	0.02560	-1.1141	10	0.35671	T	0.21	-16.9228	7.8841	0.29640	0.1238:0.066:0.0:0.8101	.	438	Q8IYR2	SMYD4_HUMAN	G	438	ENSP00000304360:E438G	ENSP00000304360:E438G	E	-	2	0	SMYD4	1650125	0.963000	0.33076	0.992000	0.48379	0.945000	0.59286	1.964000	0.40462	1.088000	0.41272	0.533000	0.62120	GAG		0.453	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		22	69	0	0	0	1	0	22	69				
CSNK1G2	1455	broad.mit.edu	37	19	1979345	1979345	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:1979345A>C	ENST00000255641.8	+	8	1291	c.796A>C	c.(796-798)Aag>Cag	p.K266Q		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGTACCAGAAGATCGGGGA	0.716																																					Ovarian(91;880 1392 21236 36928 37598)	ENST00000255641.8																			0				endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8						c.(796-798)Aag>Cag		casein kinase 1, gamma 2							17.0	16.0	16.0					19																	1979345		2185	4285	6470	SO:0001583	missense	1455				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity	g.chr19:1979345A>C	AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.796A>C	19.37:g.1979345A>C	ENSP00000255641:p.Lys266Gln						p.K266Q	NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1291	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	266			Protein kinase.		B5BU42|O00704|Q8WUB1	Missense_Mutation	SNP	ENST00000255641.8	37	c.796A>C	CCDS12077.1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.171933	0.78452	.	.	ENSG00000133275	ENST00000255641;ENST00000313975	T	0.11169	2.8	4.89	4.89	0.63831	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.125899	0.52532	D	0.000067	T	0.29389	0.0732	M	0.65677	2.01	0.49051	D	0.999743	D;P	0.76494	0.999;0.91	D;D	0.70227	0.968;0.936	T	0.02037	-1.1225	10	0.87932	D	0	.	12.4409	0.55623	1.0:0.0:0.0:0.0	.	48;266	Q9H4N7;P78368	.;KC1G2_HUMAN	Q	266;48	ENSP00000255641:K266Q	ENSP00000255641:K266Q	K	+	1	0	CSNK1G2	1930345	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.854000	0.92228	1.816000	0.52996	0.375000	0.23000	AAG		0.716	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449287.1	NM_001319		3	10	0	0	0	1	0	3	10				
DUSP26	78986	broad.mit.edu	37	8	33451109	33451109	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:33451109C>T	ENST00000256261.4	-	3	895	c.378G>A	c.(376-378)atG>atA	p.M126I	DUSP26_ENST00000523956.1_Missense_Mutation_p.M126I	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	126	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		AGTGGATGCTCATGTCAAAGG	0.647																																						ENST00000256261.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15						c.(376-378)atG>atA		dual specificity phosphatase 26 (putative)							59.0	50.0	53.0					8																	33451109		2203	4300	6503	SO:0001583	missense	78986					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:33451109C>T	AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.378G>A	8.37:g.33451109C>T	ENSP00000256261:p.Met126Ile					DUSP26_ENST00000523956.1_Missense_Mutation_p.M126I	p.M126I	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)	3	895	-			126			Tyrosine-protein phosphatase.		D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	37	c.378G>A	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712957	0.48517	.	.	ENSG00000133878	ENST00000256261;ENST00000523956;ENST00000522982	D;D;D	0.82893	-1.66;-1.66;-1.66	4.97	4.97	0.65823	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.154543	0.64402	N	0.000001	T	0.56949	0.2020	N	0.00507	-1.42	0.54753	D	0.999987	B	0.21821	0.061	B	0.19666	0.026	T	0.60737	-0.7204	10	0.11182	T	0.66	-37.3668	18.1919	0.89809	0.0:1.0:0.0:0.0	.	126	Q9BV47	DUS26_HUMAN	I	126	ENSP00000256261:M126I;ENSP00000429176:M126I;ENSP00000430922:M126I	ENSP00000256261:M126I	M	-	3	0	DUSP26	33570651	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.949000	0.70257	2.470000	0.83445	0.563000	0.77884	ATG		0.647	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1	NM_024025		23	49	0	0	0	1	0	23	49				
SLC25A42	284439	broad.mit.edu	37	19	19217186	19217186	+	Silent	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:19217186G>A	ENST00000318596.7	+	6	640	c.489G>A	c.(487-489)ccG>ccA	p.P163P	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	163					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CCGTAACCCCGAAGGAAATGT	0.657																																						ENST00000318596.7																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(487-489)ccG>ccA		solute carrier family 25, member 42							63.0	61.0	61.0					19																	19217186		2203	4300	6503	SO:0001819	synonymous_variant	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19217186G>A		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.489G>A	19.37:g.19217186G>A						SLC25A42_ENST00000600275.1_3'UTR	p.P163P	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		6	640	+			163					D2T2J5|O14553|O43378	Silent	SNP	ENST00000318596.7	37	c.489G>A	CCDS32966.1																																																																																				0.657	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		17	40	0	0	0	1	0	17	40				
CACNB3	784	broad.mit.edu	37	12	49220822	49220822	+	Silent	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:49220822C>T	ENST00000301050.2	+	12	1255	c.1056C>T	c.(1054-1056)taC>taT	p.Y352Y	CACNB3_ENST00000540990.1_Silent_p.Y339Y|CACNB3_ENST00000547392.1_Silent_p.Y325Y|CACNB3_ENST00000536187.2_Silent_p.Y351Y|CACNB3_ENST00000547230.1_Silent_p.Y311Y	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	352					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCTGAGTACCTGGAGGTTT	0.607																																						ENST00000301050.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(1054-1056)taC>taT		calcium channel, voltage-dependent, beta 3 subunit	Verapamil(DB00661)						109.0	113.0	112.0					12																	49220822		2203	4300	6503	SO:0001819	synonymous_variant	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49220822C>T		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1056C>T	12.37:g.49220822C>T						CACNB3_ENST00000547392.1_Silent_p.Y325Y|CACNB3_ENST00000547230.1_Silent_p.Y311Y|CACNB3_ENST00000540990.1_Silent_p.Y339Y|CACNB3_ENST00000536187.2_Silent_p.Y351Y	p.Y352Y	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN			12	1255	+			352					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Silent	SNP	ENST00000301050.2	37	c.1056C>T	CCDS8769.1																																																																																				0.607	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			51	135	0	0	0	1	0	51	135				
UTP14A	10813	broad.mit.edu	37	X	129059987	129059987	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:129059987A>T	ENST00000394422.3	+	13	1870	c.1842A>T	c.(1840-1842)gaA>gaT	p.E614D	UTP14A_ENST00000371042.3_Missense_Mutation_p.E446D|UTP14A_ENST00000425117.2_Missense_Mutation_p.E562D|UTP14A_ENST00000371051.5_Missense_Mutation_p.E560D|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	614					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AGAAGAGGGAAGCTGTGGAGG	0.527											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(1840-1842)gaA>gaT		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							66.0	63.0	64.0					X																	129059987		2203	4297	6500	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129059987A>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1842A>T	X.37:g.129059987A>T	ENSP00000377944:p.Glu614Asp		OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1569	UTP14A_ENST00000371051.5_Missense_Mutation_p.E560D|UTP14A_ENST00000425117.2_Missense_Mutation_p.E562D|UTP14A_ENST00000371042.3_Missense_Mutation_p.E446D|RP4-537K23.4_ENST00000432062.1_RNA	p.E614D	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			13	1870	+			614					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.1842A>T	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.367391	0.24771	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.36	0.389	0.16269	.	0.430970	0.28453	N	0.015285	T	0.36552	0.0971	M	0.69823	2.125	0.26272	N	0.978407	P;D;P	0.89917	0.508;1.0;0.563	B;D;B	0.91635	0.234;0.999;0.345	T	0.09773	-1.0659	10	0.44086	T	0.13	-15.5863	5.3946	0.16263	0.4595:0.0:0.3992:0.1412	.	560;562;614	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	D	562;614;560;446	ENSP00000388669:E562D;ENSP00000377944:E614D;ENSP00000360090:E560D;ENSP00000360081:E446D	ENSP00000360081:E446D	E	+	3	2	UTP14A	128887668	0.533000	0.26354	0.991000	0.47740	0.297000	0.27493	-0.012000	0.12699	0.003000	0.14656	0.486000	0.48141	GAA		0.527	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		25	8	0	0	0	1	0	25	8				
GALNTL6	442117	broad.mit.edu	37	4	173232894	173232894	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:173232894G>A	ENST00000506823.1	+	4	1034	c.377G>A	c.(376-378)cGt>cAt	p.R126H	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R109H|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	126					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CCAGATATTCGTCATGCTAAG	0.373																																						ENST00000506823.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.(376-378)cGt>cAt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							172.0	177.0	175.0					4																	173232894		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173232894G>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.377G>A	4.37:g.173232894G>A	ENSP00000423313:p.Arg126His					GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.R109H	p.R126H	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			4	1034	+			126					Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.377G>A	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357042	0.61293	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.62498	0.02;0.02	4.47	4.47	0.54385	.	0.000000	0.36703	N	0.002460	D	0.83166	0.5195	M	0.91090	3.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	D	0.88003	0.2757	10	0.87932	D	0	.	17.4948	0.87714	0.0:0.0:1.0:0.0	.	126	Q49A17	GLTL6_HUMAN	H	126;126;109	ENSP00000423313:R126H;ENSP00000423827:R109H	ENSP00000385382:R126H	R	+	2	0	GALNTL6	173469469	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	9.026000	0.93700	2.199000	0.70637	0.462000	0.41574	CGT		0.373	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		41	128	0	0	0	1	0	41	128				
FAM96A	84191	broad.mit.edu	37	15	64380932	64380932	+	Silent	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr15:64380932G>A	ENST00000300030.3	-	2	492	c.243C>T	c.(241-243)atC>atT	p.I81I	FAM96A_ENST00000559950.1_Silent_p.I81I|FAM96A_ENST00000380290.3_Silent_p.I81I|FAM96A_ENST00000557835.1_Silent_p.I81I	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	81					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						GCGTGAACCTGATAATAACCA	0.373																																						ENST00000557835.1																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(241-243)atC>atT		family with sequence similarity 96, member A							88.0	81.0	83.0					15																	64380932		2203	4300	6503	SO:0001819	synonymous_variant	84191				chromosome segregation			g.chr15:64380932G>A		CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.243C>T	15.37:g.64380932G>A						FAM96A_ENST00000300030.3_Silent_p.I81I|FAM96A_ENST00000380290.3_Silent_p.I81I|FAM96A_ENST00000559950.1_Silent_p.I81I	p.I81I			Q9H5X1	FA96A_HUMAN			2	269	-			81					A6NKS1|B2R5F8|B7Z8Z5	Silent	SNP	ENST00000300030.3	37	c.243C>T	CCDS10189.1																																																																																				0.373	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1	NM_032231		4	18	0	0	0	1	0	4	18				
MLYCD	23417	broad.mit.edu	37	16	83948911	83948911	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr16:83948911C>G	ENST00000262430.4	+	5	1318	c.1299C>G	c.(1297-1299)atC>atG	p.I433M	RP11-505K9.4_ENST00000566309.1_Intron|RP11-505K9.4_ENST00000561562.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	433	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TGTGGCGCATCAACTGGATGG	0.647																																						ENST00000262430.4																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1297-1299)atC>atG		malonyl-CoA decarboxylase							60.0	67.0	64.0					16																	83948911		2124	4232	6356	SO:0001583	missense	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83948911C>G	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.1299C>G	16.37:g.83948911C>G	ENSP00000262430:p.Ile433Met					RP11-505K9.4_ENST00000561562.1_RNA	p.I433M	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN			5	1318	+			433					Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	c.1299C>G	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063645	0.55432	.	.	ENSG00000103150	ENST00000262430	D	0.91464	-2.85	4.79	3.83	0.44106	.	0.220573	0.47455	D	0.000239	D	0.93400	0.7895	M	0.79258	2.445	0.46222	D	0.998935	D	0.67145	0.996	D	0.69479	0.964	D	0.92330	0.5873	10	0.66056	D	0.02	-30.8323	5.7325	0.18049	0.1563:0.6773:0.0:0.1664	.	433	O95822	DCMC_HUMAN	M	433	ENSP00000262430:I433M	ENSP00000262430:I433M	I	+	3	3	MLYCD	82506412	0.971000	0.33674	1.000000	0.80357	0.947000	0.59692	0.157000	0.16402	1.158000	0.42547	0.511000	0.50034	ATC		0.647	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		34	98	0	0	0	1	0	34	98				
CDH9	1007	broad.mit.edu	37	5	26915839	26915839	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:26915839G>A	ENST00000231021.4	-	3	594	c.422C>T	c.(421-423)cCg>cTg	p.P141L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	141	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTCCGATTCCGGTTCCACCTG	0.398																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(421-423)cCg>cTg		cadherin 9, type 2 (T1-cadherin)							131.0	130.0	130.0					5																	26915839		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915839G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.422C>T	5.37:g.26915839G>A	ENSP00000231021:p.Pro141Leu						p.P141L	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			3	594	-			141			Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.422C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691717	0.88735	.	.	ENSG00000113100	ENST00000231021	T	0.51071	0.72	4.62	4.62	0.57501	Cadherin (4);Cadherin-like (1);	0.110589	0.64402	D	0.000008	T	0.75561	0.3866	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.82661	-0.0347	9	.	.	.	.	16.4013	0.83641	0.0:0.0:1.0:0.0	.	141	Q9ULB4	CADH9_HUMAN	L	141	ENSP00000231021:P141L	.	P	-	2	0	CDH9	26951596	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	7.722000	0.84778	2.275000	0.75901	0.650000	0.86243	CCG		0.398	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		33	77	0	0	0	1	0	33	77				
MOV10	4343	broad.mit.edu	37	1	113238804	113238804	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:113238804A>T	ENST00000413052.2	+	12	2204	c.1814A>T	c.(1813-1815)tAt>tTt	p.Y605F	MOV10_ENST00000369644.1_Missense_Mutation_p.Y549F|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Missense_Mutation_p.Y605F|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.Y605F	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	605					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AAGGGGGAGTATGTATTTCCC	0.547																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(1645-1647)tAt>tTt		Mov10, Moloney leukemia virus 10, homolog (mouse)							53.0	47.0	49.0					1																	113238804		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113238804A>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1814A>T	1.37:g.113238804A>T	ENSP00000399797:p.Tyr605Phe					MOV10_ENST00000413052.2_Missense_Mutation_p.Y605F|MOV10_ENST00000369645.1_Missense_Mutation_p.Y605F|MOV10_ENST00000357443.2_Missense_Mutation_p.Y605F|MOV10_ENST00000468624.1_3'UTR|RP11-426L16.3_ENST00000421943.1_RNA	p.Y549F			Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	13	2675	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	605					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.1646A>T	CCDS853.1	.	.	.	.	.	.	.	.	.	.	A	9.379	1.072599	0.20147	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.36	1.55	0.23275	.	0.336884	0.33438	N	0.004906	T	0.23171	0.0560	N	0.01464	-0.85	0.33243	D	0.557461	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.14504	-1.0470	10	0.05351	T	0.99	-2.668	7.0855	0.25255	0.3821:0.1266:0.0:0.4913	.	549;605	Q5JR04;Q9HCE1	.;MOV10_HUMAN	F	605;605;549;605;543	ENSP00000399797:Y605F;ENSP00000358659:Y605F;ENSP00000358658:Y549F;ENSP00000350028:Y605F	ENSP00000350028:Y605F	Y	+	2	0	MOV10	113040327	0.800000	0.28916	0.206000	0.23566	0.915000	0.54546	1.473000	0.35387	0.080000	0.16959	0.533000	0.62120	TAT		0.547	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		8	25	0	0	0	1	0	8	25				
B2M	567	broad.mit.edu	37	15	45007745	45007745	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr15:45007745G>C	ENST00000558401.1	+	2	262	c.192G>C	c.(190-192)gaG>gaC	p.E64D	B2M_ENST00000544417.1_Missense_Mutation_p.E64D|B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Missense_Mutation_p.E64D	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	64	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.K61_L74del(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		AGAATGGAGAGAGAATTGAAA	0.413																																						ENST00000558401.1																			1	Deletion - In frame(1)	p.K61_L74del(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59						c.(190-192)gaG>gaC		beta-2-microglobulin							194.0	199.0	197.0					15																	45007745		2198	4298	6496	SO:0001583	missense	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45007745G>C	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.192G>C	15.37:g.45007745G>C	ENSP00000452780:p.Glu64Asp					B2M_ENST00000559916.1_Missense_Mutation_p.E64D|B2M_ENST00000544417.1_Missense_Mutation_p.E64D|B2M_ENST00000559220.1_Intron	p.E64D	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	2	262	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	64			Ig-like C1-type.		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	c.192G>C	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.474108	0.26423	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.03152	4.03	6.03	3.04	0.35103	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.379970	0.03916	N	0.282730	T	0.08537	0.0212	M	0.70903	2.155	0.09310	N	1	B;B;B	0.21071	0.051;0.025;0.0	B;B;B	0.29785	0.107;0.073;0.006	T	0.49615	-0.8921	10	0.27082	T	0.32	.	8.4555	0.32897	0.2468:0.0:0.7532:0.0	.	64;64;64	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	D	64	ENSP00000437604:E64D	ENSP00000340858:E64D	E	+	3	2	B2M	42795037	0.000000	0.05858	0.005000	0.12908	0.018000	0.09664	0.223000	0.17719	0.382000	0.24878	0.655000	0.94253	GAG		0.413	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		20	57	0	0	0	1	0	20	57				
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:153249385G>C	ENST00000281708.4	-	9	2622	c.1393C>G	c.(1393-1395)Cgt>Ggt	p.R465G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R385G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		99	Substitution - Missense(98)|Unknown(1)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1393-1395)Cgt>Ggt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							260.0	223.0	235.0					4																	153249385		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249385G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1393C>G	4.37:g.153249385G>C	ENSP00000281708:p.Arg465Gly					FBXW7_ENST00000263981.5_Missense_Mutation_p.R385G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465G	p.R465G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2622	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1393C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701425	0.88924	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.58532	-0.7620	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	465;347;385;289	ENSP00000281708:R465G;ENSP00000296555:R347G;ENSP00000263981:R385G;ENSP00000377528:R289G	ENSP00000263981:R385G	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			24	100	0	0	0	1	0	24	100				
MAP3K7	6885	broad.mit.edu	37	6	91260237	91260237	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:91260237T>C	ENST00000369329.3	-	9	1060	c.899A>G	c.(898-900)tAt>tGt	p.Y300C	MAP3K7_ENST00000369332.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369327.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369325.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369320.1_5'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	300	Interaction with MAPK8IP1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGACAAGGATACTGTAATGG	0.333																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(898-900)tAt>tGt		mitogen-activated protein kinase kinase kinase 7							110.0	107.0	108.0					6																	91260237		2203	4300	6503	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91260237T>C	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.899A>G	6.37:g.91260237T>C	ENSP00000358335:p.Tyr300Cys					MAP3K7_ENST00000369325.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.Y300C|MAP3K7_ENST00000369327.3_Missense_Mutation_p.Y300C	p.Y300C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	9	1060	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	300					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.899A>G	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.963726	0.74016	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.76839	-0.99;-1.04;-1.05;-0.99	5.74	5.74	0.90152	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75384	0.3842	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.77004	0.98;0.97;0.989;0.966	T	0.80407	-0.1395	10	0.54805	T	0.06	.	15.7028	0.77555	0.0:0.0:0.0:1.0	.	300;300;300;300	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	C	300;300;300;300;227	ENSP00000358338:Y300C;ENSP00000358335:Y300C;ENSP00000358331:Y300C;ENSP00000358333:Y300C	ENSP00000358331:Y300C	Y	-	2	0	MAP3K7	91316958	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.196000	0.58407	2.185000	0.69588	0.455000	0.32223	TAT		0.333	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		3	16	0	0	0	1	0	3	16				
MAGEB6	158809	broad.mit.edu	37	X	26213017	26213017	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:26213017C>T	ENST00000379034.1	+	2	1203	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	352	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CAACAGTGATCCTCCATGCTA	0.512																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(1054-1056)Cct>Tct		melanoma antigen family B, 6							71.0	68.0	69.0					X																	26213017		2201	4280	6481	SO:0001583	missense	158809							g.chrX:26213017C>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1054C>T	X.37:g.26213017C>T	ENSP00000368320:p.Pro352Ser						p.P352S	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	1203	+			352			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.1054C>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281363	0.40394	.	.	ENSG00000176746	ENST00000379034	T	0.06068	3.35	3.29	2.42	0.29668	.	0.000000	0.85682	U	0.000000	T	0.26991	0.0661	H	0.94423	3.535	0.09310	N	1	D	0.60575	0.988	D	0.65573	0.936	T	0.10428	-1.0630	10	0.87932	D	0	.	5.5609	0.17144	0.0:0.8459:0.0:0.1541	.	352	Q8N7X4	MAGB6_HUMAN	S	352	ENSP00000368320:P352S	ENSP00000368320:P352S	P	+	1	0	MAGEB6	26122938	0.002000	0.14202	0.023000	0.16930	0.102000	0.19082	0.900000	0.28431	0.774000	0.33427	0.594000	0.82650	CCT		0.512	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		64	21	0	0	0	1	0	64	21				
NPAS3	64067	broad.mit.edu	37	14	33684434	33684434	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr14:33684434C>T	ENST00000356141.4	+	3	187	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	NPAS3_ENST00000551492.1_Missense_Mutation_p.R70C|NPAS3_ENST00000346562.2_Missense_Mutation_p.R33C|NPAS3_ENST00000548645.1_Missense_Mutation_p.R33C|NPAS3_ENST00000357798.5_Missense_Mutation_p.R33C|NPAS3_ENST00000341321.4_Missense_Mutation_p.R63C|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000551008.1_5'UTR			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	63	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGCTCGCTCCCGCCGGGGAAA	0.458																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(97-99)Cgc>Tgc		neuronal PAS domain protein 3							61.0	68.0	66.0					14																	33684434		2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:33684434C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.187C>T	14.37:g.33684434C>T	ENSP00000348460:p.Arg63Cys					NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000357798.5_Missense_Mutation_p.R33C|NPAS3_ENST00000551492.1_Missense_Mutation_p.R70C|NPAS3_ENST00000548645.1_Missense_Mutation_p.R33C|NPAS3_ENST00000341321.4_Missense_Mutation_p.R63C|NPAS3_ENST00000356141.4_Missense_Mutation_p.R63C|NPAS3_ENST00000547068.1_5'UTR	p.R33C	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	2	171	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		63					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.97C>T	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918410	0.92249	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;D;T;T;T	0.99722	2.44;2.06;2.22;-6.53;2.42;2.31;2.4	5.96	5.96	0.96718	Helix-loop-helix DNA-binding (4);	0.000000	0.64402	D	0.000003	D	0.99677	0.9879	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.98287	1.0511	10	0.87932	D	0	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	33;63;33;33	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	C	40;70;33;63;33;63;33	ENSP00000448373:R40C;ENSP00000450392:R70C;ENSP00000319610:R33C;ENSP00000344158:R63C;ENSP00000448916:R33C;ENSP00000348460:R63C;ENSP00000350446:R33C	ENSP00000344158:R63C	R	+	1	0	NPAS3	32754185	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CGC		0.458	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			12	41	0	0	0	1	0	12	41				
RECQL5	9400	broad.mit.edu	37	17	73664664	73664664	+	5'Flank	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:73664664G>C	ENST00000317905.5	-	0	0				SAP30BP_ENST00000355423.3_Missense_Mutation_p.D59H|RECQL5_ENST00000340830.5_5'Flank|SAP30BP_ENST00000584667.1_Missense_Mutation_p.D59H|RECQL5_ENST00000423245.2_5'Flank|SAP30BP_ENST00000579864.1_3'UTR|RECQL5_ENST00000420326.2_5'Flank|RECQL5_ENST00000584999.1_5'Flank	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGTGATGAAGATGGTTATGA	0.408								Other identified genes with known or suspected DNA repair function																														ENST00000584667.1																			0				kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17						c.(175-177)Gat>Cat		SAP30 binding protein							124.0	120.0	121.0					17																	73664664		2203	4300	6503	SO:0001631	upstream_gene_variant	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73664664G>C	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762			17.37:g.73664664G>C	Exception_encountered					SAP30BP_ENST00000355423.3_Missense_Mutation_p.D59H|SAP30BP_ENST00000579864.1_3'UTR	p.D59H	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	432	+	all_cancers(13;6.42e-08)		59					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.175G>C	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186363	0.78789	.	.	ENSG00000161526	ENST00000355423;ENST00000542343;ENST00000293208	.	.	.	5.85	4.87	0.63330	.	0.501523	0.23515	N	0.047358	T	0.64483	0.2602	L	0.43152	1.355	0.53688	D	0.999971	D;P;B	0.61080	0.989;0.731;0.412	P;B;B	0.55824	0.785;0.444;0.259	T	0.65533	-0.6145	9	0.46703	T	0.11	-0.3722	16.5071	0.84274	0.0:0.0:0.8682:0.1318	.	59;59;59	F5H478;Q9UHR5-2;Q9UHR5	.;.;S30BP_HUMAN	H	59	.	ENSP00000293208:D59H	D	+	1	0	SAP30BP	71176259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.681000	0.61663	1.474000	0.48178	0.563000	0.77884	GAT		0.408	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		18	40	0	0	0	1	0	18	40				
OR51G2	81282	broad.mit.edu	37	11	4936814	4936814	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:4936814C>T	ENST00000322013.3	-	1	108	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGTGCATGCGCTCCAGCCC	0.527																																						ENST00000322013.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(79-81)cGc>cAc		olfactory receptor, family 51, subfamily G, member 2							77.0	73.0	74.0					11																	4936814		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936814C>T	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.80G>A	11.37:g.4936814C>T	ENSP00000322593:p.Arg27His					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.R27H	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	108	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	27					Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.80G>A	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	C	0.365	-0.936970	0.02340	.	.	ENSG00000176893	ENST00000322013	T	0.00330	8.08	5.49	-0.985	0.10256	.	0.758260	0.11710	N	0.537029	T	0.00144	0.0004	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04281	-1.0963	10	0.21014	T	0.42	.	6.1569	0.20342	0.0:0.1459:0.4072:0.4468	.	27	Q8NGK0	O51G2_HUMAN	H	27	ENSP00000322593:R27H	ENSP00000322593:R27H	R	-	2	0	OR51G2	4893390	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-0.788000	0.04614	-0.316000	0.08690	-0.979000	0.02580	CGC		0.527	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		18	56	0	0	0	1	0	18	56				
TNRC18	84629	broad.mit.edu	37	7	5410702	5410702	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:5410702G>C	ENST00000430969.1	-	11	3871	c.3523C>G	c.(3523-3525)Ctg>Gtg	p.L1175V	TNRC18_ENST00000399537.4_Missense_Mutation_p.L1175V	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1175	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCGACTCCAGAGGCGGCAGC	0.711																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(3523-3525)Ctg>Gtg		trinucleotide repeat containing 18							16.0	21.0	19.0					7																	5410702		2051	4154	6205	SO:0001583	missense	84629						DNA binding	g.chr7:5410702G>C	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3523C>G	7.37:g.5410702G>C	ENSP00000395538:p.Leu1175Val					TNRC18_ENST00000430969.1_Missense_Mutation_p.L1175V	p.L1175V			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	11	3871	-		Ovarian(82;0.142)	1175			Pro-rich.		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.3523C>G	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	G	4.307	0.056286	0.08291	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.11930	2.73;2.73	4.57	2.7	0.31948	.	0.257927	0.20572	N	0.089713	T	0.13500	0.0327	M	0.74258	2.255	0.21878	N	0.999498	P	0.34977	0.478	B	0.31442	0.13	T	0.14117	-1.0484	10	0.22109	T	0.4	.	6.789	0.23689	0.1727:0.0:0.649:0.1783	.	1175	O15417	TNC18_HUMAN	V	1175;1175;230;230	ENSP00000382452:L1175V;ENSP00000395538:L1175V	ENSP00000330383:L230V	L	-	1	2	TNRC18	5377228	0.932000	0.31603	0.086000	0.20670	0.405000	0.30901	1.467000	0.35321	1.035000	0.39972	0.462000	0.41574	CTG		0.711	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				14	54	0	0	0	1	0	14	54				
PRRC2A	7916	broad.mit.edu	37	6	31601231	31601231	+	Silent	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:31601231G>A	ENST00000376033.2	+	17	4629	c.4395G>A	c.(4393-4395)ctG>ctA	p.L1465L	PRRC2A_ENST00000376007.4_Silent_p.L1465L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1465	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCTTCCGCCTGGACCAAGTTA	0.612																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(4393-4395)ctG>ctA		proline-rich coiled-coil 2A							55.0	54.0	54.0					6																	31601231		1508	2709	4217	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31601231G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4395G>A	6.37:g.31601231G>A						PRRC2A_ENST00000376007.4_Silent_p.L1465L	p.L1465L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			17	4629	+			1465			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.4395G>A	CCDS4708.1																																																																																				0.612	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		18	54	0	0	0	1	0	18	54				
ATRN	8455	broad.mit.edu	37	20	3528031	3528031	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr20:3528031G>A	ENST00000262919.5	+	5	906	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	ATRN_ENST00000446916.2_Missense_Mutation_p.E280K	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	280					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGGAAAGGTGAAGCATGTGA	0.438																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(838-840)Gaa>Aaa		attractin							215.0	184.0	194.0					20																	3528031		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3528031G>A	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.838G>A	20.37:g.3528031G>A	ENSP00000262919:p.Glu280Lys					ATRN_ENST00000446916.2_Missense_Mutation_p.E280K	p.E280K	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			5	906	+			280					A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.838G>A	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939241	0.92526	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.06142	3.34;3.4	5.25	5.25	0.73442	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.330817	0.33895	N	0.004452	T	0.08891	0.0220	L	0.42744	1.35	0.58432	D	0.999998	B;B	0.34329	0.35;0.449	B;B	0.34536	0.168;0.185	T	0.18777	-1.0326	10	0.39692	T	0.17	-6.3374	18.6296	0.91355	0.0:0.0:1.0:0.0	.	280;280	O75882;O75882-2	ATRN_HUMAN;.	K	280;280;206	ENSP00000262919:E280K;ENSP00000416587:E280K	ENSP00000262919:E280K	E	+	1	0	ATRN	3476031	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.697000	0.84279	2.721000	0.93114	0.551000	0.68910	GAA		0.438	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		13	56	0	0	0	1	0	13	56				
LRRTM1	347730	broad.mit.edu	37	2	80530608	80530608	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:80530608G>A	ENST00000295057.3	-	2	993	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R113C|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	113					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TTAACTCGGCGCAGTTTCTGA	0.597										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(337-339)Cgc>Tgc		leucine rich repeat transmembrane neuronal 1							173.0	164.0	167.0					2																	80530608		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530608G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.337C>T	2.37:g.80530608G>A	ENSP00000295057:p.Arg113Cys	HNSCC(69;0.2)				CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R113C|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	p.R113C	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	993	-			113					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.337C>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901476	0.52227	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811	T;T;T;T	0.80304	-1.36;-1.36;4.24;4.24	4.78	4.78	0.61160	.	0.000000	0.85682	U	0.000000	D	0.87569	0.6210	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.87225	0.2256	9	.	.	.	.	17.8107	0.88614	0.0:0.0:1.0:0.0	.	113	Q86UE6	LRRT1_HUMAN	C	113	ENSP00000295057:R113C;ENSP00000386646:R113C;ENSP00000415368:R113C;ENSP00000389473:R113C	.	R	-	1	0	LRRTM1	80384119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.367000	0.73099	2.191000	0.70037	0.543000	0.68304	CGC		0.597	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		5	140	0	0	0	1	0	5	140				
EYA3	2140	broad.mit.edu	37	1	28354392	28354392	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:28354392G>T	ENST00000373871.3	-	7	647	c.407C>A	c.(406-408)aCt>aAt	p.T136N	EYA3_ENST00000540618.1_Intron|EYA3_ENST00000436342.2_Missense_Mutation_p.T10N|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_Missense_Mutation_p.T83N|EYA3_ENST00000373863.3_Intron|EYA3_ENST00000373864.1_Intron	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	136					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGGAGATGGAGTCTGAATTAA	0.433																																						ENST00000373871.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15						c.(406-408)aCt>aAt		eyes absent homolog 3 (Drosophila)							225.0	215.0	218.0					1																	28354392		2203	4300	6503	SO:0001583	missense	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28354392G>T	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.407C>A	1.37:g.28354392G>T	ENSP00000362978:p.Thr136Asn					EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.T10N|EYA3_ENST00000373863.3_Intron|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000545175.1_Missense_Mutation_p.T83N|EYA3_ENST00000540618.1_Intron	p.T136N			Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	7	647	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	136					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	c.407C>A	CCDS316.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435952	0.43224	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000545175	D;D;D	0.94000	-3.06;-3.33;-3.02	4.45	4.45	0.53987	.	0.067989	0.64402	D	0.000015	D	0.93706	0.7989	L	0.38175	1.15	0.33030	D	0.53006	D	0.69078	0.997	P	0.60949	0.881	D	0.94242	0.7486	10	0.33141	T	0.24	-13.0344	17.2797	0.87125	0.0:0.0:1.0:0.0	.	136	Q99504	EYA3_HUMAN	N	136;10;83	ENSP00000362978:T136N;ENSP00000405587:T10N;ENSP00000442280:T83N	ENSP00000362978:T136N	T	-	2	0	EYA3	28226979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.065000	0.76727	2.294000	0.77228	0.467000	0.42956	ACT		0.433	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		31	70	1	0	1.99505e-19	1	2.13819e-19	31	70				
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs376418550	byFrequency	TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																						ENST00000335016.5																			3	Substitution - Missense(3)	p.Q460H(3)	endometrium(2)|prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1378-1380)caG>caC		BMP2 inducible kinase							40.0	45.0	44.0					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		4	44	0	0	0	1	0	4	44				
ELP3	55140	broad.mit.edu	37	8	27995295	27995295	+	Silent	SNP	T	T	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:27995295T>C	ENST00000256398.8	+	10	1364	c.987T>C	c.(985-987)taT>taC	p.Y329Y	ELP3_ENST00000524103.1_Silent_p.Y257Y|ELP3_ENST00000537665.1_Silent_p.Y210Y|ELP3_ENST00000542181.1_Silent_p.Y200Y|ELP3_ENST00000521015.1_Silent_p.Y315Y|ELP3_ENST00000380353.4_Silent_p.Y237Y	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	329					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CCGGGCTTTATGAGCTTTGGA	0.488																																						ENST00000256398.8																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(985-987)taT>taC		elongator acetyltransferase complex subunit 3							109.0	109.0	109.0					8																	27995295		2203	4300	6503	SO:0001819	synonymous_variant	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:27995295T>C		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.987T>C	8.37:g.27995295T>C						ELP3_ENST00000521015.1_Silent_p.Y315Y|ELP3_ENST00000537665.1_Silent_p.Y210Y|ELP3_ENST00000542181.1_Silent_p.Y200Y|ELP3_ENST00000380353.4_Silent_p.Y237Y|ELP3_ENST00000524103.1_Silent_p.Y257Y	p.Y329Y	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	10	1364	+		Ovarian(32;0.0218)	329					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Silent	SNP	ENST00000256398.8	37	c.987T>C	CCDS6065.1																																																																																				0.488	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		17	28	0	0	0	1	0	17	28				
SPTB	6710	broad.mit.edu	37	14	65271665	65271665	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr14:65271665C>G	ENST00000389721.5	-	2	324	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	SPTB_ENST00000542895.1_Missense_Mutation_p.E98Q|SPTB_ENST00000556626.1_Missense_Mutation_p.E98Q|SPTB_ENST00000389722.3_Missense_Mutation_p.E98Q|SPTB_ENST00000389720.3_Missense_Mutation_p.E98Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	98	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACCAGCATCTCTCCAGAGAGC	0.607																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(292-294)Gag>Cag		spectrin, beta, erythrocytic							79.0	83.0	82.0					14																	65271665		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65271665C>G		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.292G>C	14.37:g.65271665C>G	ENSP00000374371:p.Glu98Gln					SPTB_ENST00000556626.1_Missense_Mutation_p.E98Q|SPTB_ENST00000542895.1_Missense_Mutation_p.E98Q|SPTB_ENST00000389720.3_Missense_Mutation_p.E98Q|SPTB_ENST00000389721.5_Missense_Mutation_p.E98Q	p.E98Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	2	345	-		all_lung(585;4.15e-09)	98			Actin-binding.|CH 1.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.292G>C	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526059	0.85600	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	4.67	4.67	0.58626	Calponin homology domain (5);	0.056859	0.64402	D	0.000002	T	0.72875	0.3515	L	0.61218	1.895	0.58432	D	0.999993	D;P	0.54601	0.967;0.894	D;P	0.66979	0.948;0.691	T	0.75929	-0.3144	10	0.87932	D	0	.	16.9303	0.86189	0.0:1.0:0.0:0.0	.	98;102	P11277;Q59FP5	SPTB1_HUMAN;.	Q	102;98;98;98;98;98	ENSP00000374372:E98Q;ENSP00000451752:E98Q;ENSP00000374371:E98Q;ENSP00000443882:E98Q;ENSP00000374370:E98Q	ENSP00000374370:E98Q	E	-	1	0	SPTB	64341418	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	5.771000	0.68881	2.602000	0.87976	0.650000	0.86243	GAG		0.607	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			48	92	0	0	0	1	0	48	92				
KRT86	3892	broad.mit.edu	37	12	52695816	52695816	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:52695816G>A	ENST00000423955.2	+	3	294	c.116G>A	c.(115-117)cGc>cAc	p.R39H	KRT86_ENST00000544024.1_Missense_Mutation_p.R39H|KRT86_ENST00000293525.5_Missense_Mutation_p.R39H			O43790	KRT86_HUMAN	keratin 86	39	Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTGCTACCGCGGCCTCACC	0.746																																						ENST00000293525.5																			0				breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(115-117)cGc>cAc		keratin 86							10.0	13.0	12.0					12																	52695816		1908	4000	5908	SO:0001583	missense	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52695816G>A	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.116G>A	12.37:g.52695816G>A	ENSP00000444533:p.Arg39His					KRT86_ENST00000544024.1_Missense_Mutation_p.R39H|KRT86_ENST00000423955.2_Missense_Mutation_p.R39H	p.R39H	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	168	+			39			Head.		P78387	Missense_Mutation	SNP	ENST00000423955.2	37	c.116G>A	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051424	0.55218	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	D;D;D	0.82344	-1.6;-1.6;-1.6	5.0	5.0	0.66597	.	0.000000	0.30742	U	0.008974	D	0.89928	0.6857	M	0.86028	2.79	0.29977	N	0.818042	D	0.89917	1.0	D	0.68621	0.959	D	0.85985	0.1485	10	0.27785	T	0.31	.	11.13	0.48341	0.0:0.0:0.8022:0.1978	.	39	O43790	KRT86_HUMAN	H	39	ENSP00000443169:R39H;ENSP00000444533:R39H;ENSP00000293525:R39H	ENSP00000293525:R39H	R	+	2	0	AC021066.1;KRT86	50982083	0.874000	0.30092	1.000000	0.80357	0.988000	0.76386	4.851000	0.62896	2.316000	0.78162	0.637000	0.83480	CGC		0.746	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		14	38	0	0	0	1	0	14	38				
VPRBP	9730	broad.mit.edu	37	3	51497226	51497226	+	Silent	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:51497226C>G	ENST00000335891.5	-	4	288	c.279G>C	c.(277-279)gtG>gtC	p.V93V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	93					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GGCTTGTCATCACATATGCAT	0.398																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(277-279)gtG>gtC		Vpr (HIV-1) binding protein							50.0	46.0	47.0					3																	51497226		1926	4157	6083	SO:0001819	synonymous_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51497226C>G	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.279G>C	3.37:g.51497226C>G							p.V93V			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	4	288	-			93					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37	c.279G>C																																																																																					0.398	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		8	11	0	0	0	1	0	8	11				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	30	0	0	0	1	0	3	30				
POU6F2	11281	broad.mit.edu	37	7	39504133	39504133	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:39504133G>C	ENST00000403058.1	+	11	2078	c.1924G>C	c.(1924-1926)Gag>Cag	p.E642Q	POU6F2_ENST00000559001.1_Missense_Mutation_p.E587Q|POU6F2_ENST00000518318.2_Missense_Mutation_p.E606Q	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	642					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CGAAATTGCTGAGAAGCTGAA	0.502																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1816-1818)Gag>Cag		POU class 6 homeobox 2							62.0	55.0	58.0					7																	39504133		2203	4300	6503	SO:0001583	missense	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39504133G>C	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1924G>C	7.37:g.39504133G>C	ENSP00000384004:p.Glu642Gln					POU6F2_ENST00000559001.1_Missense_Mutation_p.E587Q|POU6F2_ENST00000403058.1_Missense_Mutation_p.E642Q	p.E606Q			P78424	PO6F2_HUMAN			10	1858	+			642					A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.1816G>C	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	G	8.994	0.978437	0.18812	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	D;D	0.96168	-3.93;-3.93	5.19	4.29	0.51040	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.193857	0.53938	D	0.000042	D	0.93527	0.7934	N	0.11284	0.12	0.43308	D	0.99531	D	0.54964	0.969	P	0.58660	0.843	D	0.93947	0.7228	10	0.42905	T	0.14	.	16.0243	0.80532	0.0:0.1349:0.8651:0.0	.	642	P78424	PO6F2_HUMAN	Q	642;606	ENSP00000384004:E642Q;ENSP00000430514:E606Q	ENSP00000384004:E642Q	E	+	1	0	POU6F2	39470658	1.000000	0.71417	0.962000	0.40283	0.101000	0.19017	9.813000	0.99286	1.288000	0.44600	-0.176000	0.13171	GAG		0.502	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		14	27	0	0	0	1	0	14	27				
PNPLA4	8228	broad.mit.edu	37	X	7870135	7870135	+	Silent	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:7870135G>A	ENST00000381042.4	-	6	695	c.525C>T	c.(523-525)gtC>gtT	p.V175V	PNPLA4_ENST00000444736.1_Silent_p.V175V|PNPLA4_ENST00000537427.1_Silent_p.V88V	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	175	Patatin.				lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				CTGTCCGGCCGACGGGCAGGA	0.547																																						ENST00000381042.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(523-525)gtC>gtT		patatin-like phospholipase domain containing 4							109.0	90.0	96.0					X																	7870135		2203	4299	6502	SO:0001819	synonymous_variant	8228				lipid catabolic process		triglyceride lipase activity	g.chrX:7870135G>A	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"""Patatin-like phospholipase domain containing"""	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.525C>T	X.37:g.7870135G>A						PNPLA4_ENST00000537427.1_Silent_p.V88V|PNPLA4_ENST00000444736.1_Silent_p.V175V	p.V175V	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN			6	695	-		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)	175			Patatin.		A8K1H3|B4E362|Q8WW83	Silent	SNP	ENST00000381042.4	37	c.525C>T	CCDS14129.1																																																																																				0.547	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		18	33	0	0	0	1	0	18	33				
KRTAP11-1	337880	broad.mit.edu	37	21	32253775	32253775	+	Silent	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr21:32253775C>T	ENST00000332378.4	-	1	99	c.69G>A	c.(67-69)gtG>gtA	p.V23V		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	23						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						TAACTTGGGCCACTGGAACAA	0.557																																						ENST00000332378.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(67-69)gtG>gtA		keratin associated protein 11-1							93.0	86.0	88.0					21																	32253775		2203	4300	6503	SO:0001819	synonymous_variant	337880					keratin filament	structural molecule activity	g.chr21:32253775C>T	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.69G>A	21.37:g.32253775C>T							p.V23V	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	99	-			23					A1L4I8	Silent	SNP	ENST00000332378.4	37	c.69G>A	CCDS13608.1																																																																																				0.557	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			24	68	0	0	0	1	0	24	68				
WDR5B	54554	broad.mit.edu	37	3	122133836	122133836	+	Silent	SNP	G	G	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:122133836G>T	ENST00000330689.4	-	1	1046	c.540C>A	c.(538-540)tcC>tcA	p.S180S	RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	180										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		ACACTATCAAGGACCCACTAC	0.433																																						ENST00000330689.4																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(538-540)tcC>tcA		WD repeat domain 5B							79.0	78.0	78.0					3																	122133836		2203	4300	6503	SO:0001819	synonymous_variant	54554							g.chr3:122133836G>T	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.540C>A	3.37:g.122133836G>T							p.S180S	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	1046	-			180					B2RCM9|Q9NUL4	Silent	SNP	ENST00000330689.4	37	c.540C>A	CCDS3012.1																																																																																				0.433	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		24	67	1	0	3.28513e-13	1	3.47409e-13	24	67				
SYNPO2L	79933	broad.mit.edu	37	10	75407449	75407449	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr10:75407449G>A	ENST00000394810.2	-	4	2110	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.S430L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	654	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CTGTACCAGCGATAGCAGCTC	0.627																																						ENST00000394810.2																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1960-1962)tCg>tTg		synaptopodin 2-like							89.0	105.0	99.0					10																	75407449		2203	4300	6503	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75407449G>A	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1961C>T	10.37:g.75407449G>A	ENSP00000378289:p.Ser654Leu					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.S430L	p.S654L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2110	-	Prostate(51;0.0112)		654			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.1961C>T	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115090	0.94339	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.27720	1.65;1.95	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	L	0.46157	1.445	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	P;D	0.69824	0.9;0.966	T	0.38779	-0.9645	10	0.45353	T	0.12	-7.7106	18.7993	0.92010	0.0:0.0:1.0:0.0	.	654;430	Q9H987;Q9H987-2	SYP2L_HUMAN;.	L	430;654	ENSP00000361964:S430L;ENSP00000378289:S654L	ENSP00000361964:S430L	S	-	2	0	SYNPO2L	75077455	1.000000	0.71417	0.987000	0.45799	0.985000	0.73830	7.786000	0.85741	2.679000	0.91253	0.549000	0.68633	TCG		0.627	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		37	145	0	0	0	1	0	37	145				
ZMYM1	79830	broad.mit.edu	37	1	35580247	35580247	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:35580247G>A	ENST00000373330.1	+	11	2990	c.2816G>A	c.(2815-2817)aGa>aAa	p.R939K	ZMYM1_ENST00000359858.4_Missense_Mutation_p.R939K|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	939						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGAAAAGAAGAAAAATTCAG	0.284																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(2815-2817)aGa>aAa		zinc finger, MYM-type 1							18.0	19.0	19.0					1																	35580247		1752	3959	5711	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580247G>A	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2816G>A	1.37:g.35580247G>A	ENSP00000362427:p.Arg939Lys					ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.R939K	p.R939K			Q5SVZ6	ZMYM1_HUMAN			11	2990	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	939					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.2816G>A	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	9.295	1.051733	0.19827	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.20069	2.1;2.1;2.1	4.21	4.21	0.49690	Ribonuclease H-like (1);	0.000000	0.50627	D	0.000116	T	0.25827	0.0629	N	0.24115	0.695	0.26658	N	0.971969	D;P	0.58268	0.982;0.956	D;D	0.67548	0.952;0.931	T	0.03619	-1.1019	9	.	.	.	-27.9837	8.1772	0.31289	0.1055:0.0:0.8945:0.0	.	920;939	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	K	939;864;939	ENSP00000352920:R939K;ENSP00000362426:R864K;ENSP00000362427:R939K	.	R	+	2	0	ZMYM1	35352834	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	2.164000	0.42387	2.650000	0.89964	0.557000	0.71058	AGA		0.284	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		3	14	0	0	0	1	0	3	14				
FAM86EP	348926	broad.mit.edu	37	4	3954857	3954857	+	RNA	SNP	C	C	A	rs17410899		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:3954857C>A	ENST00000313946.8	-	0	135				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AATATCCCGCCGCAGCTCAGA	0.488																																						ENST00000281228.8																			0																																																			0							g.chr4:3954857C>A			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3954857C>A						FAM86EP_ENST00000313946.8_RNA								0	141	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.488	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			3	61	1	0	1	1	1	3	61				
CEP104	9731	broad.mit.edu	37	1	3753141	3753141	+	Missense_Mutation	SNP	C	C	T	rs535293642	byFrequency	TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:3753141C>T	ENST00000378230.3	-	10	1559	c.1235G>A	c.(1234-1236)gGc>gAc	p.G412D	CEP104_ENST00000460038.1_Intron	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	412						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CCCTAACATGCCTCCCCTCCG	0.507													C|||	3	0.000599042	0.0	0.0	5008	,	,		15450	0.0		0.0	False		,,,				2504	0.0031					ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(1234-1236)gGc>gAc		centrosomal protein 104kDa							118.0	100.0	106.0					1																	3753141		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3753141C>T	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1235G>A	1.37:g.3753141C>T	ENSP00000367476:p.Gly412Asp					CEP104_ENST00000460038.1_Intron	p.G412D	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			10	1559	-			412					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.1235G>A	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236646	0.22711	.	.	ENSG00000116198	ENST00000378230;ENST00000443466	T;T	0.15139	2.45;2.45	5.68	3.8	0.43715	.	0.424346	0.25686	N	0.028971	T	0.12817	0.0311	L	0.35288	1.05	0.29270	N	0.870749	B;B	0.11235	0.004;0.003	B;B	0.13407	0.009;0.006	T	0.15122	-1.0448	10	0.23891	T	0.37	.	10.7317	0.46100	0.0:0.7967:0.132:0.0713	.	412;412	O60308-3;O60308	.;CE104_HUMAN	D	412;106	ENSP00000367476:G412D;ENSP00000411927:G106D	ENSP00000367476:G412D	G	-	2	0	CEP104	3743001	0.507000	0.26146	0.082000	0.20525	0.005000	0.04900	1.682000	0.37628	0.740000	0.32651	-0.182000	0.12963	GGC		0.507	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		30	73	0	0	0	1	0	30	73				
ITGA4	3676	broad.mit.edu	37	2	182346359	182346359	+	Silent	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:182346359G>A	ENST00000397033.2	+	7	1219	c.789G>A	c.(787-789)caG>caA	p.Q263Q		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	263					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TTCGGAGCCAGCATACTACCG	0.373																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(787-789)caG>caA		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						65.0	60.0	61.0					2																	182346359		1812	4080	5892	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182346359G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.789G>A	2.37:g.182346359G>A							p.Q263Q	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		7	1219	+			263					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.789G>A	CCDS42788.1																																																																																				0.373	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			3	16	0	0	0	1	0	3	16				
ADCY1	107	broad.mit.edu	37	7	45750164	45750164	+	Silent	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr7:45750164C>T	ENST00000297323.7	+	19	2992	c.2970C>T	c.(2968-2970)ggC>ggT	p.G990G		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	990					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAGTGATTGGCGCTCGCAGGC	0.577																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2968-2970)ggC>ggT		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						85.0	79.0	81.0					7																	45750164		2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45750164C>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2970C>T	7.37:g.45750164C>T							p.G990G	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			19	2992	+			990					A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.2970C>T	CCDS34631.1																																																																																				0.577	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		45	63	0	0	0	1	0	45	63				
TGFBR2	7048	broad.mit.edu	37	3	30729875	30729875	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:30729875G>A	ENST00000295754.5	+	6	1778		c.e6-1		TGFBR2_ENST00000359013.4_Splice_Site	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)						activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTTCTTCACAGAAGTAAAAGA	0.512																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CS064462	TGFBR2	S		c.e6-1		transforming growth factor, beta receptor II (70/80kDa)							115.0	109.0	111.0					3																	30729875		2203	4300	6503	SO:0001630	splice_region_variant	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30729875G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1397-1G>A	3.37:g.30729875G>A						TGFBR2_ENST00000359013.4_Splice_Site		NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			6	1778	+								B4DTV5|Q15580|Q6DKT6|Q99474	Splice_Site	SNP	ENST00000295754.5	37		CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546474	0.86022	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6346	0.91372	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGFBR2	30704879	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	9.759000	0.98931	2.469000	0.83416	0.591000	0.81541	.		0.512	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2		Intron	37	32	0	0	0	1	0	37	32				
NF2	4771	broad.mit.edu	37	22	30077427	30077427	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr22:30077427G>A	ENST00000338641.4	+	15	2015		c.e15-1		NF2_ENST00000347330.5_Splice_Site|NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000361452.4_Splice_Site|NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000413209.2_Intron|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000334961.7_Splice_Site	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(6)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CTTGCCGGCAGAGTGGAATAC	0.537			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		6	Unknown(6)	p.?(6)	soft_tissue(2)|urinary_tract(1)|large_intestine(1)|stomach(1)|central_nervous_system(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776	GRCh37	CS961644|CS982294	NF2	S		c.e15-1		neurofibromin 2 (merlin)							90.0	89.0	89.0					22																	30077427		2203	4300	6503	SO:0001630	splice_region_variant	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30077427G>A	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1575-1G>A	22.37:g.30077427G>A						NF2_ENST00000361452.4_Splice_Site|NF2_ENST00000334961.7_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000347330.5_Splice_Site|NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000413209.2_Intron		NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			15	2015	+								O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	SNP	ENST00000338641.4	37		CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056397	0.93793	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF2	28407427	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.824000	0.99380	2.854000	0.98071	0.655000	0.94253	.		0.537	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Intron	68	47	0	0	0	1	0	68	47				
TRAPPC2	6399	broad.mit.edu	37	X	13734173	13734173	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:13734173C>T	ENST00000380579.1	-	5	466	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	TRAPPC2_ENST00000359680.5_Missense_Mutation_p.E92K|TRAPPC2_ENST00000358231.5_Missense_Mutation_p.E92K|TRAPPC2_ENST00000519885.1_Missense_Mutation_p.E92K|TRAPPC2_ENST00000458511.2_Missense_Mutation_p.E126K|TRAPPC2_ENST00000453655.2_Missense_Mutation_p.E99K			P0DI81	TPC2A_HUMAN	trafficking protein particle complex 2	92					ER to Golgi vesicle-mediated transport (GO:0006888)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ion channel binding (GO:0044325)|transcription factor binding (GO:0008134)			kidney(1)	1						ATTCCATCTTCTTGTCTTATG	0.279																																						ENST00000453655.2																			0				kidney(1)	1						c.(295-297)Gaa>Aaa		trafficking protein particle complex 2							32.0	29.0	30.0					X																	13734173		1786	4039	5825	SO:0001583	missense	6399				ER to Golgi vesicle-mediated transport	intracellular		g.chrX:13734173C>T	AF157061	CCDS48082.1, CCDS48083.1, CCDS48083.2	Xp22	2011-10-10	2005-01-26		ENSG00000196459	ENSG00000196459		"""Trafficking protein particle complex"""	23068	protein-coding gene	gene with protein product		300202	"""spondyloepiphyseal dysplasia, late"""	SEDL		14597397	Standard	NM_014563		Approved	TRS20, SEDT, MIP-2A, ZNF547L, hYP38334	uc010nej.2	P0DI81	OTTHUMG00000021157	ENST00000380579.1:c.274G>A	X.37:g.13734173C>T	ENSP00000369953:p.Glu92Lys					TRAPPC2_ENST00000358231.5_Missense_Mutation_p.E92K|TRAPPC2_ENST00000458511.2_Missense_Mutation_p.E126K|TRAPPC2_ENST00000359680.5_Missense_Mutation_p.E92K|TRAPPC2_ENST00000380579.1_Missense_Mutation_p.E92K|TRAPPC2_ENST00000519885.1_Missense_Mutation_p.E92K	p.E99K	NM_001011658.3|NM_001128835.2	NP_001011658.1|NP_001122307.2	Q6IBE5	Q6IBE5_HUMAN			5	566	-			92					A6NEG0|O14582|Q9HD16	Missense_Mutation	SNP	ENST00000380579.1	37	c.295G>A	CCDS48082.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653776	0.88056	.	.	ENSG00000196459	ENST00000453655;ENST00000359680;ENST00000380579;ENST00000358231;ENST00000458511;ENST00000519885	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.77	5.77	0.91146	Longin-like (1);	0.000000	0.85682	D	0.000000	D	0.95680	0.8595	M	0.87097	2.86	0.80722	D	1	P	0.51933	0.949	P	0.61533	0.89	D	0.95744	0.8786	10	0.59425	D	0.04	-15.0817	19.0047	0.92846	0.0:1.0:0.0:0.0	.	92	P0DI81	TPC2A_HUMAN	K	99;92;92;92;126;92	ENSP00000394629:E99K;ENSP00000352708:E92K;ENSP00000369953:E92K;ENSP00000350966:E92K;ENSP00000392495:E126K;ENSP00000430725:E92K	ENSP00000350966:E92K	E	-	1	0	TRAPPC2	13644094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.506000	0.81665	2.437000	0.82529	0.600000	0.82982	GAA		0.279	TRAPPC2-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055805.2	NM_014563		4	11	0	0	0	1	0	4	11				
PAPPA	5069	broad.mit.edu	37	9	118949908	118949908	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:118949908G>T	ENST00000328252.3	+	2	1260	c.891G>T	c.(889-891)tgG>tgT	p.W297C	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	297	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGCATGCCTGGTCCCCCATGA	0.577																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(889-891)tgG>tgT		pregnancy-associated plasma protein A, pappalysin 1							90.0	82.0	84.0					9																	118949908		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118949908G>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.891G>T	9.37:g.118949908G>T	ENSP00000330658:p.Trp297Cys						p.W297C	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			2	1260	+			297			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.891G>T	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620611	0.66787	.	.	ENSG00000182752	ENST00000328252	T	0.11277	2.79	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.27673	-1.0067	10	0.87932	D	0	-12.4405	20.6439	0.99570	0.0:0.0:1.0:0.0	.	297	Q13219	PAPP1_HUMAN	C	297	ENSP00000330658:W297C	ENSP00000330658:W297C	W	+	3	0	PAPPA	117989729	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	9.827000	0.99397	2.884000	0.98904	0.655000	0.94253	TGG		0.577	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		23	73	1	0	3.10358e-05	1	3.14303e-05	23	73				
MAGEA12	4111	broad.mit.edu	37	X	151899861	151899861	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:151899861C>G	ENST00000357916.4	-	2	1095	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	MAGEA12_ENST00000393900.3_Missense_Mutation_p.E314Q|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.E314Q	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	314										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAGACTCACTCTTCCCCCTCT	0.552																																						ENST00000393900.3																			0				breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(940-942)Gag>Cag		melanoma antigen family A, 12							119.0	117.0	117.0					X																	151899861		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151899861C>G		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.940G>C	X.37:g.151899861C>G	ENSP00000350592:p.Glu314Gln					MAGEA12_ENST00000357916.4_Missense_Mutation_p.E314Q|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.E314Q	p.E314Q	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN			3	1293	-	Acute lymphoblastic leukemia(192;6.56e-05)		314					Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.940G>C	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622353	0.28889	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.02050	4.48;4.48;4.48	0.809	0.809	0.18725	.	3.522020	0.00824	N	0.001613	T	0.13030	0.0316	M	0.79343	2.45	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.11348	-1.0591	9	0.66056	D	0.02	.	.	.	.	.	314	P43365	MAGAC_HUMAN	Q	314	ENSP00000350592:E314Q;ENSP00000377447:E314Q;ENSP00000377478:E314Q	ENSP00000350592:E314Q	E	-	1	0	MAGEA12	151650517	0.009000	0.17119	0.025000	0.17156	0.080000	0.17528	0.089000	0.15002	0.675000	0.31264	0.181000	0.17075	GAG		0.552	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		50	100	0	0	0	1	0	50	100				
NACC1	112939	broad.mit.edu	37	19	13246121	13246121	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr19:13246121G>C	ENST00000292431.4	+	2	226	c.100G>C	c.(100-102)Gtg>Ctg	p.V34L	AC005546.2_ENST00000591837.1_lincRNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	34	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGACGTGTCAGTGGTGGTCAA	0.617																																						ENST00000292431.4																			0				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						c.(100-102)Gtg>Ctg		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							62.0	59.0	60.0					19																	13246121		2203	4300	6503	SO:0001583	missense	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13246121G>C	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.100G>C	19.37:g.13246121G>C	ENSP00000292431:p.Val34Leu						p.V34L	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN			2	226	+			34			BTB.			Missense_Mutation	SNP	ENST00000292431.4	37	c.100G>C	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200298	0.79015	.	.	ENSG00000160877	ENST00000292431	T	0.13657	2.57	5.05	5.05	0.67936	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.13884	0.0336	N	0.04768	-0.165	0.53005	D	0.999969	P	0.34743	0.466	P	0.47915	0.561	T	0.38134	-0.9675	10	0.45353	T	0.12	.	15.9789	0.80091	0.0:0.0:1.0:0.0	.	34	Q96RE7	NACC1_HUMAN	L	34	ENSP00000292431:V34L	ENSP00000292431:V34L	V	+	1	0	NACC1	13107121	1.000000	0.71417	0.920000	0.36463	0.898000	0.52572	3.417000	0.52714	2.359000	0.80004	0.650000	0.86243	GTG		0.617	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		14	71	0	0	0	1	0	14	71				
PCDH7	5099	broad.mit.edu	37	4	30723310	30723310	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:30723310G>A	ENST00000361762.2	+	1	1274	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	PCDH7_ENST00000543491.1_Missense_Mutation_p.R89Q	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ACGAGCGAGCGGCGCATCGAC	0.617																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(265-267)cGg>cAg		protocadherin 7							75.0	61.0	66.0					4																	30723310		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723310G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.266G>A	4.37:g.30723310G>A	ENSP00000355243:p.Arg89Gln					PCDH7_ENST00000543491.1_Missense_Mutation_p.R89Q	p.R89Q	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	1274	+			89			Cadherin 1.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.266G>A	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774981	0.31411	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.15718	2.4;2.4	4.76	4.76	0.60689	Cadherin, N-terminal (1);Cadherin (3);	.	.	.	.	T	0.31358	0.0794	L	0.35723	1.085	0.42996	D	0.9945	D;D;D	0.71674	0.998;0.998;0.998	P;P;D	0.64776	0.883;0.883;0.929	T	0.03051	-1.1078	9	0.52906	T	0.07	.	17.5435	0.87854	0.0:0.0:1.0:0.0	.	89;89;89	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	Q	89	ENSP00000355243:R89Q;ENSP00000441802:R89Q	ENSP00000330302:R89Q	R	+	2	0	PCDH7	30332408	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	1.976000	0.40579	2.471000	0.83476	0.305000	0.20034	CGG		0.617	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		4	27	0	0	0	1	0	4	27				
CSMD3	114788	broad.mit.edu	37	8	113308070	113308070	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:113308070G>A	ENST00000297405.5	-	54	8850	c.8606C>T	c.(8605-8607)tCc>tTc	p.S2869F	CSMD3_ENST00000455883.2_Missense_Mutation_p.S2700F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2829F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2799F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2869	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACGCACACAGGATGGGAGCTG	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(8605-8607)tCc>tTc		CUB and Sushi multiple domains 3							114.0	94.0	101.0					8																	113308070		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113308070G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8606C>T	8.37:g.113308070G>A	ENSP00000297405:p.Ser2869Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.S2829F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2799F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2700F	p.S2869F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			54	8850	-			2869			Sushi 18.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8606C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669526	0.29693	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.31	5.31	0.75309	Complement control module (2);Sushi/SCR/CCP (3);	0.169713	0.41294	D	0.000904	T	0.57636	0.2067	N	0.11892	0.195	0.53688	D	0.999978	P;P;P	0.51147	0.811;0.843;0.942	B;P;P	0.55871	0.371;0.648;0.786	T	0.52779	-0.8530	10	0.10377	T	0.69	.	18.9718	0.92718	0.0:0.0:1.0:0.0	.	2700;2869;2829	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	2829;2869;2139;2700;2799	ENSP00000345799:S2829F;ENSP00000297405:S2869F;ENSP00000341558:S2139F;ENSP00000412263:S2700F;ENSP00000343124:S2799F	ENSP00000297405:S2869F	S	-	2	0	CSMD3	113377246	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.758000	0.55220	2.480000	0.83734	0.655000	0.94253	TCC		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	33	0	0	0	1	0	4	33				
B3GAT3	26229	broad.mit.edu	37	11	62384631	62384631	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:62384631T>C	ENST00000265471.5	-	3	673	c.446A>G	c.(445-447)gAg>gGg	p.E149G	B3GAT3_ENST00000534026.1_Missense_Mutation_p.E149G|B3GAT3_ENST00000531383.1_Missense_Mutation_p.E149G	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	149					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CCAGCCAGGCTCGCCCTCCCG	0.692																																						ENST00000531383.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(445-447)gAg>gGg		beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)							31.0	35.0	34.0					11																	62384631		2201	4298	6499	SO:0001583	missense	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62384631T>C	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.446A>G	11.37:g.62384631T>C	ENSP00000265471:p.Glu149Gly					B3GAT3_ENST00000534026.1_Missense_Mutation_p.E149G|B3GAT3_ENST00000265471.5_Missense_Mutation_p.E149G	p.E149G			O94766	B3GA3_HUMAN			3	652	-			149					B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	c.446A>G	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	t	16.35	3.097630	0.56075	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.56	5.56	0.83823	.	0.052943	0.64402	D	0.000001	T	0.58821	0.2149	L	0.40543	1.245	0.49130	D	0.999759	B;B;B	0.27264	0.002;0.173;0.001	B;B;B	0.35770	0.021;0.21;0.005	T	0.59984	-0.7351	10	0.56958	D	0.05	.	13.6703	0.62420	0.0:0.0:0.0:1.0	.	149;155;149	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	G	149;149;149;172	ENSP00000265471:E149G;ENSP00000431359:E149G;ENSP00000432474:E149G;ENSP00000432854:E172G	ENSP00000265471:E149G	E	-	2	0	B3GAT3	62141207	1.000000	0.71417	0.979000	0.43373	0.790000	0.44656	6.267000	0.72546	2.114000	0.64651	0.454000	0.30748	GAG		0.692	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200		18	32	0	0	0	1	0	18	32				
DTNB	1838	broad.mit.edu	37	2	25819047	25819047	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:25819047G>C	ENST00000406818.3	-	6	760	c.511C>G	c.(511-513)Ctg>Gtg	p.L171V	DTNB_ENST00000407661.3_Missense_Mutation_p.L171V|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000496972.2_Missense_Mutation_p.L114V|DTNB_ENST00000407038.3_Missense_Mutation_p.L171V|DTNB_ENST00000545439.1_Intron|DTNB_ENST00000405222.1_Missense_Mutation_p.L171V|DTNB_ENST00000407186.1_Missense_Mutation_p.L171V|DTNB_ENST00000288642.8_Missense_Mutation_p.L171V|DTNB_ENST00000404103.3_Missense_Mutation_p.L171V	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	171						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTCCTTCAGAAACTGGTCA	0.423																																						ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(511-513)Ctg>Gtg		dystrobrevin, beta							69.0	70.0	70.0					2																	25819047		1849	4086	5935	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25819047G>C	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.511C>G	2.37:g.25819047G>C	ENSP00000384084:p.Leu171Val					DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000407661.3_Missense_Mutation_p.L171V|DTNB_ENST00000407038.3_Missense_Mutation_p.L171V|DTNB_ENST00000407186.1_Missense_Mutation_p.L171V|DTNB_ENST00000405222.1_Missense_Mutation_p.L171V|DTNB_ENST00000545439.1_Intron|DTNB_ENST00000496972.2_Missense_Mutation_p.L114V|DTNB_ENST00000404103.3_Missense_Mutation_p.L171V|DTNB_ENST00000288642.8_Missense_Mutation_p.L171V	p.L171V	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			6	760	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		171					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.511C>G	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373000	0.82573	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000535791;ENST00000303659	D;D;D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.46	5.46	0.80206	EF-hand domain, type 2 (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93828	0.8026	M	0.93328	3.405	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.997;1.0;0.997;0.999;0.999;0.999;0.999;0.999	D	0.94655	0.7843	10	0.87932	D	0	-17.9195	12.6503	0.56757	0.0803:0.0:0.9197:0.0	.	171;114;171;171;171;171;171;171;171;171	E7EVB6;F5GZG4;O60941-3;B7Z6A9;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;.;DTNB_HUMAN	V	114;171;171;171;171;171;171;171;24;171	ENSP00000444463:L114V;ENSP00000384084:L171V;ENSP00000385482:L171V;ENSP00000385193:L171V;ENSP00000384767:L171V;ENSP00000384787:L171V;ENSP00000385784:L171V;ENSP00000288642:L171V;ENSP00000306529:L171V	ENSP00000288642:L171V	L	-	1	2	DTNB	25672551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.564000	0.60830	2.713000	0.92767	0.655000	0.94253	CTG		0.423	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		16	29	0	0	0	1	0	16	29				
FAM129B	64855	broad.mit.edu	37	9	130272455	130272455	+	Silent	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:130272455G>A	ENST00000373312.3	-	9	1344	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.I364I	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	377					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CGCCCTCGTTGATGACGTTCA	0.632																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1129-1131)atC>atT		family with sequence similarity 129, member B							139.0	128.0	131.0					9																	130272455		2203	4300	6503	SO:0001819	synonymous_variant	64855						protein binding	g.chr9:130272455G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1131C>T	9.37:g.130272455G>A						FAM129B_ENST00000373314.3_Silent_p.I364I|FAM129B_ENST00000468379.1_Intron	p.I377I	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			9	1344	-			377					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	37	c.1131C>T	CCDS35145.1																																																																																				0.632	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		61	90	0	0	0	1	0	61	90				
HORMAD1	84072	broad.mit.edu	37	1	150676644	150676644	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:150676644C>T	ENST00000361824.2	-	12	1003	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	HORMAD1_ENST00000322343.7_Missense_Mutation_p.E293K|HORMAD1_ENST00000368993.2_Missense_Mutation_p.E300K|HORMAD1_ENST00000368995.4_Missense_Mutation_p.E220K|RNU6-1042P_ENST00000384204.1_RNA	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	300					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTCATAATTTCATCTTCCTCA	0.303																																						ENST00000368993.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16						c.(898-900)Gaa>Aaa		HORMA domain containing 1							32.0	32.0	32.0					1																	150676644		2192	4293	6485	SO:0001583	missense	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150676644C>T	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.898G>A	1.37:g.150676644C>T	ENSP00000355167:p.Glu300Lys					HORMAD1_ENST00000368995.4_Missense_Mutation_p.E220K|HORMAD1_ENST00000322343.7_Missense_Mutation_p.E293K|HORMAD1_ENST00000361824.2_Missense_Mutation_p.E300K	p.E300K			Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		12	1003	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		300					A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	c.898G>A	CCDS967.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592473	0.66219	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	T;T;T;T	0.46063	0.88;1.5;1.46;1.5	5.57	3.69	0.42338	.	0.257130	0.44097	N	0.000483	T	0.19406	0.0466	N	0.17082	0.46	0.25715	N	0.985437	D;D;P	0.63880	0.993;0.986;0.935	P;P;P	0.60789	0.879;0.795;0.454	T	0.05649	-1.0872	10	0.09338	T	0.73	-18.8388	8.7091	0.34374	0.0:0.8246:0.0:0.1754	.	220;293;300	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	K	220;300;229;220;293;300	ENSP00000357991:E220K;ENSP00000357989:E300K;ENSP00000326489:E293K;ENSP00000355167:E300K	ENSP00000326489:E293K	E	-	1	0	HORMAD1	148943268	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.088000	0.50175	1.345000	0.45676	0.650000	0.86243	GAA		0.303	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		4	5	0	0	0	1	0	4	5				
CTC1	80169	broad.mit.edu	37	17	8131545	8131545	+	Missense_Mutation	SNP	C	C	G	rs199473683		TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:8131545C>G	ENST00000315684.8	-	23	3614	c.3607G>C	c.(3607-3609)Gag>Cag	p.E1203Q	RP11-849F2.8_ENST00000602405.1_lincRNA	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1203					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TACTCTGACTCTCGGATAGAA	0.547																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(3607-3609)Gag>Cag		CTS telomere maintenance complex component 1							58.0	65.0	63.0					17																	8131545		2096	4232	6328	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8131545C>G	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3607G>C	17.37:g.8131545C>G	ENSP00000313759:p.Glu1203Gln						p.E1203Q	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			23	3614	-			1203					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.3607G>C	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151844	0.38021	.	.	ENSG00000178971	ENST00000315684	D	0.86769	-2.17	5.91	5.91	0.95273	.	0.224110	0.46442	D	0.000296	D	0.92306	0.7559	M	0.69823	2.125	0.41753	D	0.989676	D	0.67145	0.996	D	0.64877	0.93	D	0.92715	0.6186	10	0.72032	D	0.01	-21.9128	15.779	0.78246	0.0:1.0:0.0:0.0	.	1203	Q2NKJ3	CTC1_HUMAN	Q	1203	ENSP00000313759:E1203Q	ENSP00000313759:E1203Q	E	-	1	0	CTC1	8072270	1.000000	0.71417	0.992000	0.48379	0.018000	0.09664	3.486000	0.53215	2.801000	0.96364	0.655000	0.94253	GAG		0.547	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		14	29	0	0	0	1	0	14	29				
SHOX	6473	broad.mit.edu	37	X	591898	591898	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:591898G>C	ENST00000554971.1	+	1	357	c.266G>C	c.(265-267)aGa>aCa	p.R89T	SHOX_ENST00000334060.3_Missense_Mutation_p.R89T|SHOX_ENST00000381578.1_Missense_Mutation_p.R89T|SHOX_ENST00000381575.1_Missense_Mutation_p.R89T			O15266	SHOX_HUMAN	short stature homeobox	89					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCACCGCGAGAGTGGCAGAA	0.652																																					Ovarian(95;18 1419 12424 14056 28266)	ENST00000381578.1																			0				endometrium(3)|lung(9)|prostate(1)	13						c.(265-267)aGa>aCa		short stature homeobox							53.0	63.0	59.0					X																	591898		2203	4296	6499	SO:0001583	missense	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:591898G>C	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.266G>C	X.37:g.591898G>C	ENSP00000452016:p.Arg89Thr					SHOX_ENST00000334060.3_Missense_Mutation_p.R89T|SHOX_ENST00000554971.1_Missense_Mutation_p.R89T|SHOX_ENST00000381575.1_Missense_Mutation_p.R89T	p.R89T	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN			2	957	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	89					O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.266G>C	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	G	6.880	0.531831	0.13127	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.94457	-3.43;-3.3;-3.3;-3.43	1.73	1.73	0.24493	.	0.304334	0.26871	U	0.022073	D	0.89164	0.6637	L	0.41824	1.3	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.74250	-0.3726	10	0.14656	T	0.56	.	11.6658	0.51372	0.0:0.0:1.0:0.0	.	89;89	O15266-2;O15266	.;SHOX_HUMAN	T	89	ENSP00000335505:R89T;ENSP00000370990:R89T;ENSP00000452016:R89T;ENSP00000370987:R89T	ENSP00000335505:R89T	R	+	2	0	SHOX	511898	1.000000	0.71417	0.004000	0.12327	0.013000	0.08279	6.881000	0.75584	0.764000	0.33197	0.275000	0.19346	AGA		0.652	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		29	70	0	0	0	1	0	29	70				
RBM19	9904	broad.mit.edu	37	12	114352855	114352855	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:114352855G>A	ENST00000545145.2	-	21	2555	c.2477C>T	c.(2476-2478)cCc>cTc	p.P826L	RBM19_ENST00000261741.5_Missense_Mutation_p.P826L|RBM19_ENST00000392561.3_Missense_Mutation_p.P826L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	826					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTGCTTTCTGGGAACTTGTTT	0.572																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(2476-2478)cCc>cTc		RNA binding motif protein 19							112.0	98.0	102.0					12																	114352855		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114352855G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2477C>T	12.37:g.114352855G>A	ENSP00000442053:p.Pro826Leu					RBM19_ENST00000392561.3_Missense_Mutation_p.P826L|RBM19_ENST00000261741.5_Missense_Mutation_p.P826L	p.P826L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			21	2555	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		826					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.2477C>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680651	0.29872	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.06933	3.24;3.24;3.24	5.45	5.45	0.79879	.	0.761307	0.12194	N	0.490939	T	0.06188	0.0160	N	0.17474	0.49	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.30909	-0.9962	10	0.27785	T	0.31	-2.0147	10.3287	0.43809	0.0898:0.0:0.9102:0.0	.	826	Q9Y4C8	RBM19_HUMAN	L	826	ENSP00000442053:P826L;ENSP00000376344:P826L;ENSP00000261741:P826L	ENSP00000261741:P826L	P	-	2	0	RBM19	112837238	0.752000	0.28338	0.008000	0.14137	0.088000	0.18126	1.592000	0.36676	2.558000	0.86282	0.563000	0.77884	CCC		0.572	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		30	93	0	0	0	1	0	30	93				
ZBTB21	49854	broad.mit.edu	37	21	43412147	43412147	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr21:43412147C>A	ENST00000310826.5	-	3	2241	c.2058G>T	c.(2056-2058)aaG>aaT	p.K686N	ZBTB21_ENST00000398499.1_Missense_Mutation_p.K686N|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.K686N|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	686					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TTATATGCTGCTTAAATTGAG	0.418																																						ENST00000310826.5																			0											c.(2056-2058)aaG>aaT		zinc finger and BTB domain containing 21							108.0	124.0	119.0					21																	43412147		2203	4300	6503	SO:0001583	missense	49854							g.chr21:43412147C>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2058G>T	21.37:g.43412147C>A	ENSP00000308759:p.Lys686Asn					ZBTB21_ENST00000398499.1_Missense_Mutation_p.K686N|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.K686N|ZBTB21_ENST00000398505.3_Intron	p.K686N	NM_001098402.1	NP_001091872.1					3	2241	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2058G>T	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522870	0.44866	.	.	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.53640	0.61;0.61;0.61	5.32	-0.365	0.12549	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.066068	0.64402	D	0.000012	T	0.48003	0.1476	N	0.25060	0.705	0.43308	D	0.995313	D	0.76494	0.999	D	0.72982	0.979	T	0.29243	-1.0018	10	0.31617	T	0.26	-20.3254	11.6816	0.51461	0.0:0.4401:0.0:0.5599	.	686	Q9ULJ3	ZN295_HUMAN	N	686	ENSP00000308759:K686N;ENSP00000381512:K686N;ENSP00000381523:K686N	ENSP00000308759:K686N	K	-	3	2	ZNF295	42285216	0.441000	0.25626	0.998000	0.56505	0.997000	0.91878	-0.319000	0.08039	-0.032000	0.13758	0.591000	0.81541	AAG		0.418	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		35	110	1	0	9.04072e-19	1	9.64612e-19	35	110				
ZBTB3	79842	broad.mit.edu	37	11	62521034	62521034	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr11:62521034A>G	ENST00000394807.3	-	2	378	c.253T>C	c.(253-255)Ttc>Ctc	p.F85L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	85	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TGGGCCAAGAACTGGGTACTA	0.572																																						ENST00000394807.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(253-255)Ttc>Ctc		zinc finger and BTB domain containing 3							42.0	42.0	42.0					11																	62521034		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62521034A>G	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.253T>C	11.37:g.62521034A>G	ENSP00000378286:p.Phe85Leu						p.F85L	NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN			2	378	-			85			BTB.			Missense_Mutation	SNP	ENST00000394807.3	37	c.253T>C	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.039846	0.93630	.	.	ENSG00000185670	ENST00000394807;ENST00000527994	T;T	0.69175	-0.38;-0.38	5.85	5.85	0.93711	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.82719	0.5098	M	0.83953	2.67	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	D	0.85360	0.1107	10	0.87932	D	0	.	14.2004	0.65699	1.0:0.0:0.0:0.0	.	85	Q9H5J0	ZBTB3_HUMAN	L	85;35	ENSP00000378286:F85L;ENSP00000432731:F35L	ENSP00000378286:F85L	F	-	1	0	ZBTB3	62277610	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.237000	0.73441	0.459000	0.35465	TTC		0.572	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		11	24	0	0	0	1	0	11	24				
MMP16	4325	broad.mit.edu	37	8	89053960	89053960	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr8:89053960T>C	ENST00000286614.6	-	10	1834	c.1553A>G	c.(1552-1554)gAa>gGa	p.E518G		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	518					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATATCCAGGTTCTACCTTGAG	0.423																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(1552-1554)gAa>gGa		matrix metallopeptidase 16 (membrane-inserted)							225.0	190.0	202.0					8																	89053960		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89053960T>C	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1553A>G	8.37:g.89053960T>C	ENSP00000286614:p.Glu518Gly						p.E518G	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			10	1834	-			518			Hemopexin-like 4.		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1553A>G	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539063	0.85917	.	.	ENSG00000156103	ENST00000286614	T	0.02974	4.09	5.86	5.86	0.93980	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	M	0.93241	3.395	0.80722	D	1	D	0.65815	0.995	D	0.69479	0.964	T	0.06770	-1.0808	10	0.56958	D	0.05	.	16.254	0.82501	0.0:0.0:0.0:1.0	.	518	P51512	MMP16_HUMAN	G	518	ENSP00000286614:E518G	ENSP00000286614:E518G	E	-	2	0	MMP16	89123076	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.232000	0.73038	0.533000	0.62120	GAA		0.423	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		10	53	0	0	0	1	0	10	53				
DNAJC28	54943	broad.mit.edu	37	21	34861415	34861415	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr21:34861415C>G	ENST00000314399.3	-	2	724	c.286G>C	c.(286-288)Gaa>Caa	p.E96Q	DNAJC28_ENST00000381947.3_Missense_Mutation_p.E96Q|DNAJC28_ENST00000402202.1_Missense_Mutation_p.E96Q	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	96	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						TAAGCTTTTTCAATCCTTATA	0.368																																						ENST00000314399.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						c.(286-288)Gaa>Caa		DnaJ (Hsp40) homolog, subfamily C, member 28							124.0	116.0	118.0					21																	34861415		2203	4300	6503	SO:0001583	missense	54943						heat shock protein binding	g.chr21:34861415C>G	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.286G>C	21.37:g.34861415C>G	ENSP00000320303:p.Glu96Gln					DNAJC28_ENST00000381947.3_Missense_Mutation_p.E96Q|DNAJC28_ENST00000402202.1_Missense_Mutation_p.E96Q	p.E96Q	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN			2	724	-			96			J.		D3DSF2	Missense_Mutation	SNP	ENST00000314399.3	37	c.286G>C	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734210	0.69189	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	T;T;T	0.27890	1.64;1.64;1.64	5.79	5.79	0.91817	Heat shock protein DnaJ, N-terminal (5);	0.099802	0.64402	D	0.000002	T	0.16257	0.0391	N	0.01809	-0.71	0.47441	D	0.999426	P	0.47604	0.898	P	0.45167	0.472	T	0.20706	-1.0267	10	0.26408	T	0.33	-26.6181	15.0136	0.71567	0.0:0.8571:0.1429:0.0	.	96	Q9NX36	DJC28_HUMAN	Q	96	ENSP00000371373:E96Q;ENSP00000320303:E96Q;ENSP00000385777:E96Q	ENSP00000320303:E96Q	E	-	1	0	DNAJC28	33783285	1.000000	0.71417	0.970000	0.41538	0.940000	0.58332	5.510000	0.67018	2.746000	0.94184	0.655000	0.94253	GAA		0.368	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3			16	52	0	0	0	1	0	16	52				
CASC5	57082	broad.mit.edu	37	15	40916382	40916382	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr15:40916382A>T	ENST00000346991.5	+	11	4388	c.3998A>T	c.(3997-3999)aAt>aTt	p.N1333I	CASC5_ENST00000399668.2_Missense_Mutation_p.N1307I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1333					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGTTTACCAAATGTTATTTCC	0.363																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(3997-3999)aAt>aTt		cancer susceptibility candidate 5							106.0	102.0	103.0					15																	40916382		1892	4110	6002	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40916382A>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.3998A>T	15.37:g.40916382A>T	ENSP00000335463:p.Asn1333Ile					CASC5_ENST00000399668.2_Missense_Mutation_p.N1307I	p.N1333I			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	4388	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1333					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.3998A>T	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.073727	0.55646	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.18810	2.19;2.19	4.91	2.62	0.31277	.	0.137540	0.33834	N	0.004517	T	0.30572	0.0769	L	0.59436	1.845	0.25479	N	0.987756	P;P;D	0.58268	0.95;0.95;0.982	P;P;P	0.57911	0.735;0.735;0.829	T	0.06215	-1.0839	10	0.87932	D	0	.	5.0734	0.14618	0.6842:0.0:0.3158:0.0	.	1307;1333;1307	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	I	1333;1307;1307	ENSP00000335463:N1333I;ENSP00000382576:N1307I	ENSP00000260369:N1307I	N	+	2	0	CASC5	38703674	0.020000	0.18652	0.996000	0.52242	0.730000	0.41778	1.170000	0.31883	0.955000	0.37878	0.528000	0.53228	AAT		0.363	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		22	60	0	0	0	1	0	22	60				
PKHD1	5314	broad.mit.edu	37	6	51612983	51612983	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:51612983A>G	ENST00000371117.3	-	58	9706	c.9431T>C	c.(9430-9432)aTc>aCc	p.I3144T	PKHD1_ENST00000340994.4_Missense_Mutation_p.I3144T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3144					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAGCCAGAGATTCTGGTACA	0.428																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9430-9432)aTc>aCc		polycystic kidney and hepatic disease 1 (autosomal recessive)							183.0	194.0	190.0					6																	51612983		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51612983A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9431T>C	6.37:g.51612983A>G	ENSP00000360158:p.Ile3144Thr					PKHD1_ENST00000340994.4_Missense_Mutation_p.I3144T	p.I3144T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9706	-	Lung NSC(77;0.0605)		3144					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9431T>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.540809	0.65085	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;T	0.84944	-1.92;-1.44	5.86	5.86	0.93980	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.133325	0.50627	D	0.000112	D	0.89385	0.6700	M	0.83603	2.65	0.29593	N	0.848249	D;D;D	0.59767	0.986;0.982;0.986	P;P;P	0.59948	0.821;0.726;0.866	D	0.86997	0.2114	10	0.56958	D	0.05	.	15.448	0.75248	1.0:0.0:0.0:0.0	.	3144;3144;3144	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	T	3144	ENSP00000360158:I3144T;ENSP00000341097:I3144T	ENSP00000341097:I3144T	I	-	2	0	PKHD1	51720942	0.998000	0.40836	0.905000	0.35620	0.759000	0.43091	6.087000	0.71362	2.240000	0.73641	0.533000	0.62120	ATC		0.428	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		63	143	0	0	0	1	0	63	143				
PRKCQ	5588	broad.mit.edu	37	10	6525470	6525470	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr10:6525470G>C	ENST00000263125.5	-	11	1210	c.1111C>G	c.(1111-1113)Ctg>Gtg	p.L371V	PRKCQ_ENST00000539722.1_Missense_Mutation_p.L246V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.L371V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	371					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TTAATCTGCAGAGATGGTCTT	0.433																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(1111-1113)Ctg>Gtg		protein kinase C, theta							143.0	135.0	138.0					10																	6525470		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6525470G>C	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1111C>G	10.37:g.6525470G>C	ENSP00000263125:p.Leu371Val					PRKCQ_ENST00000397176.2_Missense_Mutation_p.L371V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.L246V	p.L371V	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			11	1210	-			371					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.1111C>G	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	.	1.518	-0.547636	0.04024	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.68765	-0.34;-0.3;-0.35	5.24	2.26	0.28386	.	0.465007	0.21330	N	0.076303	T	0.38746	0.1052	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.13522	-1.0506	10	0.29301	T	0.29	.	4.1433	0.10203	0.1347:0.3162:0.4349:0.1142	.	246;143;371;371	B4DF52;Q5JUN8;Q04759-2;Q04759	.;.;.;KPCT_HUMAN	V	371;371;246	ENSP00000263125:L371V;ENSP00000380361:L371V;ENSP00000441752:L246V	ENSP00000263125:L371V	L	-	1	2	PRKCQ	6565476	0.015000	0.18098	0.064000	0.19789	0.011000	0.07611	0.200000	0.17257	0.556000	0.29098	0.650000	0.86243	CTG		0.433	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		28	77	0	0	0	1	0	28	77				
FAT1	2195	broad.mit.edu	37	4	187535448	187535448	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:187535448G>C	ENST00000441802.2	-	12	9335	c.9126C>G	c.(9124-9126)atC>atG	p.I3042M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3042	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGATCTGCATGATCAATTTTC	0.388										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(9124-9126)atC>atG		FAT atypical cadherin 1							135.0	128.0	130.0					4																	187535448		1875	4107	5982	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187535448G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9126C>G	4.37:g.187535448G>C	ENSP00000406229:p.Ile3042Met	HNSCC(5;0.00058)					p.I3042M	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			12	9335	-			3042			Cadherin 28.			Missense_Mutation	SNP	ENST00000441802.2	37	c.9126C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057968	0.36277	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.02682	4.2	4.73	1.09	0.20402	Cadherin (3);Cadherin-like (1);	0.167640	0.49916	D	0.000125	T	0.13372	0.0324	M	0.91717	3.235	0.46927	D	0.999259	P	0.48350	0.909	P	0.61874	0.895	T	0.00190	-1.1937	10	0.87932	D	0	.	4.8538	0.13549	0.39:0.0:0.4641:0.1459	.	3042	Q14517	FAT1_HUMAN	M	3042;3044	ENSP00000406229:I3042M	ENSP00000260147:I3044M	I	-	3	3	FAT1	187772442	1.000000	0.71417	0.890000	0.34922	0.328000	0.28507	1.989000	0.40707	-0.004000	0.14419	0.455000	0.32223	ATC		0.388	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		13	41	0	0	0	1	0	13	41				
TTN	7273	broad.mit.edu	37	2	179587808	179587808	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr2:179587808C>T	ENST00000591111.1	-	73	21199	c.20975G>A	c.(20974-20976)gGa>gAa	p.G6992E	TTN_ENST00000589042.1_Missense_Mutation_p.G7309E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G6065E|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12579	Ig-like 51.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACATCCCTTCCTGCCTCATT	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(21925-21927)gGa>gAa		titin							116.0	114.0	115.0					2																	179587808		1876	4112	5988	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587808C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20975G>A	2.37:g.179587808C>T	ENSP00000465570:p.Gly6992Glu					TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6065E|TTN_ENST00000591111.1_Missense_Mutation_p.G6992E|TTN-AS1_ENST00000585451.1_RNA	p.G7309E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		75	22150	-			6992			Ig-like 55.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.21926G>A		.	.	.	.	.	.	.	.	.	.	C	14.02	2.410693	0.42817	.	.	ENSG00000155657	ENST00000342992	T	0.73152	-0.72	5.95	5.95	0.96441	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90417	0.7000	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92683	0.6160	9	0.87932	D	0	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	6992	Q8WZ42	TITIN_HUMAN	E	6065	ENSP00000343764:G6065E	ENSP00000343764:G6065E	G	-	2	0	TTN	179296053	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.821000	0.97095	0.650000	0.86243	GGA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	26	0	0	0	1	0	15	26				
MAATS1	89876	broad.mit.edu	37	3	119428695	119428695	+	Silent	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:119428695C>G	ENST00000273390.5	+	5	530	c.453C>G	c.(451-453)ctC>ctG	p.L151L	MAATS1_ENST00000463700.1_Silent_p.L151L	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	151						mitochondrion (GO:0005739)											GGCCTTTTCTCCCATTTTTTC	0.353																																						ENST00000273390.5																			0											c.(451-453)ctC>ctG		MYCBP-associated, testis expressed 1							200.0	201.0	201.0					3																	119428695		2203	4299	6502	SO:0001819	synonymous_variant	89876							g.chr3:119428695C>G	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.453C>G	3.37:g.119428695C>G						MAATS1_ENST00000463700.1_Silent_p.L151L	p.L151L	NM_033364.3	NP_203528.2					5	530	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	c.453C>G	CCDS2994.1																																																																																				0.353	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		7	38	0	0	0	1	0	7	38				
PROX1	5629	broad.mit.edu	37	1	214169881	214169881	+	Start_Codon_SNP	SNP	G	G	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:214169881G>T	ENST00000366958.4	+	2	611	c.3G>T	c.(1-3)atG>atT	p.M1I	PROX1_ENST00000498508.2_Start_Codon_SNP_p.M1I|PROX1_ENST00000261454.4_Start_Codon_SNP_p.M1I|PROX1_ENST00000435016.1_Start_Codon_SNP_p.M1I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	1	Interaction with RORG. {ECO:0000250|UniProtKB:P48437}.				aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTCCAGTGATGCCTGACCATG	0.507																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1-3)atG>atT		prospero homeobox 1							86.0	74.0	78.0					1																	214169881		2203	4300	6503	SO:0001582	initiator_codon_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214169881G>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.3G>T	1.37:g.214169881G>T	ENSP00000355925:p.Met1Ile					PROX1_ENST00000498508.2_Start_Codon_SNP_p.M1I|PROX1_ENST00000261454.4_Start_Codon_SNP_p.M1I|PROX1_ENST00000435016.1_Start_Codon_SNP_p.M1I	p.M1I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	611	+			1					A6NK29|A8K2B1|Q5SW76|Q8TB91	Translation_Start_Site	SNP	ENST00000366958.4	37	c.3G>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815348	0.70912	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.49432	0.81;0.78;0.81;0.81	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	.	.	.	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.69569	-0.5110	9	0.87932	D	0	-4.9313	20.1272	0.97986	0.0:0.0:1.0:0.0	.	1	Q92786	PROX1_HUMAN	I	1	ENSP00000420283:M1I;ENSP00000355925:M1I;ENSP00000400694:M1I;ENSP00000261454:M1I	ENSP00000261454:M1I	M	+	3	0	PROX1	212236504	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.391000	0.97249	2.828000	0.97474	0.655000	0.94253	ATG		0.507	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763	Missense_Mutation	12	35	1	0	7.03913e-09	1	7.34651e-09	12	35				
CXXC5	51523	broad.mit.edu	37	5	139060867	139060867	+	Silent	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:139060867C>T	ENST00000302517.3	+	2	1473	c.759C>T	c.(757-759)atC>atT	p.I253I	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Silent_p.I253I	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	253					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGCCATCAGCTCCGGCA	0.632																																						ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(757-759)atC>atT		CXXC finger protein 5							37.0	44.0	42.0					5																	139060867		2065	4216	6281	SO:0001819	synonymous_variant	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060867C>T	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.759C>T	5.37:g.139060867C>T						CXXC5_ENST00000511048.1_Silent_p.I253I|CXXC5_ENST00000515038.1_3'UTR	p.I253I	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1473	+			253					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Silent	SNP	ENST00000302517.3	37	c.759C>T	CCDS43370.1																																																																																				0.632	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		29	76	0	0	0	1	0	29	76				
PCDHA2	56146	broad.mit.edu	37	5	140176983	140176983	+	Intron	SNP	A	A	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:140176983A>T	ENST00000526136.1	+	1	2388				PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Nonsense_Mutation_p.K812*|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTTTTTAAAAAATTCTA	0.308																																						ENST00000378132.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2434-2436)Aaa>Taa									16.0	19.0	18.0					5																	140176983		2187	4295	6482	SO:0001627	intron_variant	56146							g.chr5:140176983A>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2388+46A>T	5.37:g.140176983A>T						PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.K812*	NM_031495.1	NP_113683.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2540	+								O75287|Q9BTV3	Nonsense_Mutation	SNP	ENST00000526136.1	37	c.2434A>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	a	14.74	2.624998	0.46840	.	.	ENSG00000204969	ENST00000378132	.	.	.	2.27	-3.26	0.05064	.	2.852130	0.02560	U	0.096670	.	.	.	.	.	.	0.33351	D	0.571117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.9796	0.05949	0.2078:0.3265:0.0:0.4657	.	.	.	.	X	812	.	.	K	+	1	0	PCDHA2	140157167	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-3.362000	0.00497	-1.132000	0.02907	-2.662000	0.00146	AAA		0.308	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		8	15	0	0	0	1	0	8	15				
SHPRH	257218	broad.mit.edu	37	6	146264650	146264650	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr6:146264650A>C	ENST00000367505.2	-	9	2131	c.1867T>G	c.(1867-1869)Ttc>Gtc	p.F623V	SHPRH_ENST00000438092.2_Missense_Mutation_p.F623V|SHPRH_ENST00000367503.3_Missense_Mutation_p.F623V|SHPRH_ENST00000275233.7_Missense_Mutation_p.F623V			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	623					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCTTGGTTGAATTCAGAGATA	0.403																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1867-1869)Ttc>Gtc		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							204.0	191.0	195.0					6																	146264650		1963	4153	6116	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264650A>C	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1867T>G	6.37:g.146264650A>C	ENSP00000356475:p.Phe623Val					SHPRH_ENST00000275233.7_Missense_Mutation_p.F623V|SHPRH_ENST00000438092.2_Missense_Mutation_p.F623V|SHPRH_ENST00000367505.2_Missense_Mutation_p.F623V	p.F623V	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2265	-		Ovarian(120;0.0365)	623					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.1867T>G	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	9.472	1.095891	0.20552	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	4.84	-0.619	0.11572	DEAD-like helicase (1);	1.611720	0.03642	N	0.239751	T	0.14830	0.0358	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.03413	-1.1039	10	0.13853	T	0.58	1.911	1.623	0.02717	0.1445:0.4214:0.1153:0.3188	.	512;623;623;512	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	V	623;623;623;623;512	ENSP00000356475:F623V;ENSP00000356473:F623V;ENSP00000412797:F623V;ENSP00000275233:F623V	ENSP00000275233:F623V	F	-	1	0	SHPRH	146306343	0.000000	0.05858	0.000000	0.03702	0.437000	0.31866	-0.536000	0.06135	-0.234000	0.09782	0.528000	0.53228	TTC		0.403	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		21	66	0	0	0	1	0	21	66				
CNKSR2	22866	broad.mit.edu	37	X	21550081	21550081	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:21550081G>A	ENST00000379510.3	+	11	1235	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	CNKSR2_ENST00000279451.4_Missense_Mutation_p.R400Q|CNKSR2_ENST00000425654.2_Missense_Mutation_p.R400Q|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Missense_Mutation_p.R351Q	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	400	DUF1170.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CAGGAATATCGAAAGAGATTT	0.393																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(1198-1200)cGa>cAa		connector enhancer of kinase suppressor of Ras 2							102.0	97.0	99.0					X																	21550081		2203	4298	6501	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21550081G>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1199G>A	X.37:g.21550081G>A	ENSP00000368824:p.Arg400Gln					CNKSR2_ENST00000379510.3_Missense_Mutation_p.R400Q|CNKSR2_ENST00000543067.1_Missense_Mutation_p.R351Q|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000279451.4_Missense_Mutation_p.R400Q	p.R400Q	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			11	1679	+			400			DUF1170.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.1199G>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	g	34	5.311902	0.95655	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.25085	2.35;1.82;1.97;2.25	5.54	5.54	0.83059	Connector enhancer of kinase suppressor of ras 2 (1);	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	L	0.48986	1.54	0.47123	D	0.999323	D;D;D;D	0.89917	0.998;0.997;1.0;0.979	P;P;D;P	0.66497	0.889;0.866;0.944;0.727	T	0.12708	-1.0537	10	0.30078	T	0.28	-0.0064	18.4882	0.90836	0.0:0.0:1.0:0.0	.	400;351;22;400	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	Q	400;351;400;400	ENSP00000397906:R400Q;ENSP00000444633:R351Q;ENSP00000279451:R400Q;ENSP00000368824:R400Q	ENSP00000279451:R400Q	R	+	2	0	CNKSR2	21460002	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.024000	0.93689	2.307000	0.77673	0.534000	0.68092	CGA		0.393	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		18	46	0	0	0	1	0	18	46				
ZSCAN20	7579	broad.mit.edu	37	1	33956919	33956919	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:33956919G>T	ENST00000361328.3	+	6	1214	c.1061G>T	c.(1060-1062)cGc>cTc	p.R354L	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.R300L	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	354					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CACCAGAACCGCCAGGTATAT	0.517																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(1060-1062)cGc>cTc		zinc finger and SCAN domain containing 20							77.0	82.0	80.0					1																	33956919		1941	4157	6098	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33956919G>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1061G>T	1.37:g.33956919G>T	ENSP00000355053:p.Arg354Leu					ZSCAN20_ENST00000373413.2_Missense_Mutation_p.R300L	p.R354L	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			6	1214	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	354					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.1061G>T	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596679	0.86953	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413;ENST00000361328;ENST00000401072	T	0.44083	0.93	5.74	5.74	0.90152	SANT domain, DNA binding (1);	0.000000	0.64402	D	0.000006	T	0.66858	0.2832	M	0.80847	2.515	0.47862	D	0.999539	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.965;0.999	T	0.68089	-0.5501	10	0.56958	D	0.05	-33.3851	15.8024	0.78463	0.0:0.0:1.0:0.0	.	354;300;354	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	L	300;354;300;288;288	ENSP00000362512:R300L	ENSP00000324450:R354L	R	+	2	0	ZSCAN20	33729506	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.673000	0.68109	2.884000	0.98904	0.655000	0.94253	CGC		0.517	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		33	92	1	0	3.86903e-22	1	4.18415e-22	33	92				
SPRTN	83932	broad.mit.edu	37	1	231489080	231489080	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:231489080C>G	ENST00000295050.7	+	5	1779	c.1443C>G	c.(1441-1443)atC>atG	p.I481M		NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	481					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										GTGACAGCATCAAAGTCAAAA	0.418																																						ENST00000295050.7																			0											c.(1441-1443)atC>atG		SprT-like N-terminal domain							38.0	38.0	38.0					1																	231489080		2203	4298	6501	SO:0001583	missense	83932							g.chr1:231489080C>G	AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.1443C>G	1.37:g.231489080C>G	ENSP00000295050:p.Ile481Met						p.I481M	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3					5	1779	+								B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	ENST00000295050.7	37	c.1443C>G	CCDS1594.1	.	.	.	.	.	.	.	.	.	.	C	8.341	0.828803	0.16749	.	.	ENSG00000010072	ENST00000295050	T	0.46063	0.88	5.33	0.213	0.15244	.	1.021980	0.07806	N	0.957354	T	0.29524	0.0736	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.24835	-1.0149	10	0.32370	T	0.25	0.5136	4.8814	0.13681	0.0:0.5355:0.1494:0.3151	.	481	Q9H040	CA124_HUMAN	M	481	ENSP00000295050:I481M	ENSP00000295050:I481M	I	+	3	3	C1orf124	229555703	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.151000	0.16283	-0.032000	0.13758	0.643000	0.83706	ATC		0.418	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		12	37	0	0	0	1	0	12	37				
CXXC5	51523	broad.mit.edu	37	5	139061005	139061005	+	Silent	SNP	C	C	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr5:139061005C>G	ENST00000302517.3	+	2	1611	c.897C>G	c.(895-897)ctC>ctG	p.L299L	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Silent_p.L299L	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	299					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGGAACTCAAAAAGAAGC	0.567																																						ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(895-897)ctC>ctG		CXXC finger protein 5							84.0	95.0	91.0					5																	139061005		1969	4163	6132	SO:0001819	synonymous_variant	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139061005C>G	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.897C>G	5.37:g.139061005C>G						CXXC5_ENST00000511048.1_Silent_p.L299L|CXXC5_ENST00000515038.1_3'UTR	p.L299L	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1611	+			299					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Silent	SNP	ENST00000302517.3	37	c.897C>G	CCDS43370.1																																																																																				0.567	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		42	133	0	0	0	1	0	42	133				
GOLGB1	2804	broad.mit.edu	37	3	121410218	121410218	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr3:121410218C>T	ENST00000340645.5	-	14	8103	c.7978G>A	c.(7978-7980)Gaa>Aaa	p.E2660K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2665K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2660					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ACCAATTCTTCTTCCAGTTCT	0.373																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(7993-7995)Gaa>Aaa		golgin B1							167.0	174.0	172.0					3																	121410218		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410218C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7978G>A	3.37:g.121410218C>T	ENSP00000341848:p.Glu2660Lys					GOLGB1_ENST00000340645.5_Missense_Mutation_p.E2660K	p.E2665K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8103	-			2660					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.7993G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858439	0.17178	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.20069	2.1;2.1	5.51	3.73	0.42828	.	0.296045	0.29053	N	0.013298	T	0.23846	0.0577	M	0.70595	2.14	0.42596	D	0.993268	B;B;B	0.21520	0.02;0.049;0.057	B;B;B	0.25405	0.016;0.03;0.06	T	0.03231	-1.1058	10	0.28530	T	0.3	.	10.0795	0.42381	0.0:0.8362:0.0:0.1638	.	2665;2665;2660	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	K	2660;2665	ENSP00000341848:E2660K;ENSP00000377275:E2665K	ENSP00000341848:E2660K	E	-	1	0	GOLGB1	122892908	0.148000	0.22702	0.991000	0.47740	0.692000	0.40212	1.295000	0.33377	0.685000	0.31468	0.655000	0.94253	GAA		0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		36	113	0	0	0	1	0	36	113				
GPR137B	7107	broad.mit.edu	37	1	236305987	236305988	+	Frame_Shift_Ins	INS	-	-	C			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr1:236305987_236305988insC	ENST00000366592.3	+	1	156_157	c.65_66insC	c.(64-69)gacccafs	p.DP22fs	GPR137B_ENST00000366591.4_Frame_Shift_Ins_p.DP22fs	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	22						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCGCCGTGGGACCCAGCCCGCA	0.772																																						ENST00000366592.3																			0				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(64-66)gccfs		G protein-coupled receptor 137B																																				SO:0001589	frameshift_variant	7107					integral to plasma membrane|membrane fraction		g.chr1:236305987_236305988insC	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.68dupC	1.37:g.236305990_236305990dupC	ENSP00000355551:p.Asp22fs					GPR137B_ENST00000366591.4_Frame_Shift_Ins_p.A22fs	p.A22fs	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		1	156_157	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	22					Q53EK7|Q5TAE6|Q6FHI3	Frame_Shift_Ins	INS	ENST00000366592.3	37	c.65_66insC	CCDS1609.1																																																																																				0.772	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		4	9						4	9	---	---	---	---
PIGG	54872	broad.mit.edu	37	4	524368	524370	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:524368_524370delTTC	ENST00000453061.2	+	11	2511_2513	c.2405_2407delTTC	c.(2404-2409)gttctt>gtt	p.L804del	PIGG_ENST00000383028.4_In_Frame_Del_p.L671del|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_In_Frame_Del_p.L715del|PIGG_ENST00000310340.5_In_Frame_Del_p.L796del	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	804					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						AGTGGATTAGTTCTTCTGGCAGC	0.414																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(2404-2409)gtt>g		phosphatidylinositol glycan anchor biosynthesis, class G																																				SO:0001651	inframe_deletion	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:524368_524370delTTC		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2405_2407delTTC	4.37:g.524371_524373delTTC	ENSP00000415203:p.Leu804del					PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_In_Frame_Del_p.VL669del|PIGG_ENST00000310340.5_In_Frame_Del_p.VL794del|PIGG_ENST00000504346.1_In_Frame_Del_p.VL713del	p.VL802del	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			11	2511_2513	+			802					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	In_Frame_Del	DEL	ENST00000453061.2	37	c.2405_2407delTTC	CCDS46992.1																																																																																				0.414	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		52	145						52	145	---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3430399	3430399	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr4:3430399delA	ENST00000344733.5	+	16	4430	c.3526delA	c.(3526-3528)aaafs	p.K1178fs	RGS12_ENST00000338806.4_Frame_Shift_Del_p.K530fs|RGS12_ENST00000538395.1_Intron|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000336727.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000382788.3_Frame_Shift_Del_p.K1178fs	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1178					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAGATTGGGAAAAAAAAATA	0.328																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3526-3528)aafs		regulator of G-protein signaling 12							44.0	50.0	48.0					4																	3430399		2201	4300	6501	SO:0001589	frameshift_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3430399delA	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3526delA	4.37:g.3430399delA	ENSP00000339381:p.Lys1178fs					RGS12_ENST00000382788.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000344733.5_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000338806.4_Frame_Shift_Del_p.K530fs|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000538395.1_Intron	p.K1178fs	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	16	4430	+			1178					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Frame_Shift_Del	DEL	ENST00000344733.5	37	c.3526delA	CCDS3366.1																																																																																				0.328	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		7	67						7	67	---	---	---	---
SNORD118	727676	broad.mit.edu	37	9	38147473	38147473	+	RNA	DEL	A	A	-			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:38147473delA	ENST00000363156.1	+	0	49																											gagggcagatagaacatgatg	0.408																																						ENST00000363156.1																			0																																																			727676							g.chr9:38147473delA																													9.37:g.38147473delA														0	49	+									RNA	DEL	ENST00000363156.1	37																																																																																						0.408	U8.2-201	NOVEL	basic	snoRNA	snoRNA				2	4						2	4	---	---	---	---
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-	rs200487787	byFrequency	TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcgfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													g|G|-|deletion	1256	0.250799	0.2352	0.2061	5008	,	,		15575	0.3968		0.174	False		,,,				2504	0.2321					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1597-1599)gcfs		contactin associated protein-like 3B																																				SO:0001589	frameshift_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43844265delG	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1599delG	9.37:g.43844265delG	ENSP00000366787:p.Ala533fs						p.A533fs	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			10	1992	+			533			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Frame_Shift_Del	DEL	ENST00000377564.3	37	c.1599delG	CCDS55312.1																																																																																				0.542	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			2	4						2	4	---	---	---	---
KRT76	51350	broad.mit.edu	37	12	53162773	53162775	+	In_Frame_Del	DEL	ACT	ACT	-	rs1464423|rs370657661|rs576463918|rs201384439	byFrequency	TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr12:53162773_53162775delACT	ENST00000332411.2	-	9	1692_1694	c.1639_1641delAGT	c.(1639-1641)agtdel	p.S547del		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	547	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.S547_G548insS(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ctccatagccactgctgctgctg	0.635																																						ENST00000332411.2																			1	Insertion - In frame(1)	p.S547_G548insS(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1639-1641)del		keratin 76																																				SO:0001651	inframe_deletion	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53162773_53162775delACT	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1639_1641delAGT	12.37:g.53162773_53162775delACT	ENSP00000330101:p.Ser547del						p.S547del	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			9	1692_1694	-			547			Tail.		B4DRR3|Q7Z795	In_Frame_Del	DEL	ENST00000332411.2	37	c.1639_1641delAGT	CCDS8838.1																																																																																				0.635	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		2	4						2	4	---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69726976	69726985	+	Frame_Shift_Del	DEL	CTCATTCACA	CTCATTCACA	-			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr16:69726976_69726985delCTCATTCACA	ENST00000354436.2	+	12	3512_3521	c.3194_3203delCTCATTCACA	c.(3193-3204)tctcattcacagfs	p.SHSQ1065fs	NFAT5_ENST00000432919.1_Frame_Shift_Del_p.SHSQ1083fs|NFAT5_ENST00000567239.1_Frame_Shift_Del_p.SHSQ1082fs|NFAT5_ENST00000566899.1_Frame_Shift_Del_p.SHSQ989fs|NFAT5_ENST00000393742.2_Frame_Shift_Del_p.SHSQ989fs|NFAT5_ENST00000349945.1_Frame_Shift_Del_p.SHSQ989fs	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1065					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGCAGTCTTCTCATTCACAGGCCCAACTT	0.414																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2965-2976)tgfs		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001589	frameshift_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726976_69726985delCTCATTCACA	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3194_3203delCTCATTCACA	16.37:g.69726976_69726985delCTCATTCACA	ENSP00000346420:p.Ser1065fs					NFAT5_ENST00000566899.1_Frame_Shift_Del_p.SHSQ989fs|NFAT5_ENST00000432919.1_Frame_Shift_Del_p.SHSQ1083fs|NFAT5_ENST00000393742.2_Frame_Shift_Del_p.SHSQ989fs|NFAT5_ENST00000354436.2_Frame_Shift_Del_p.SHSQ1065fs|NFAT5_ENST00000567239.1_Frame_Shift_Del_p.SHSQ1082fs	p.SHSQ989fs	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	4518_4527	+			1065					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Frame_Shift_Del	DEL	ENST00000354436.2	37	c.2966_2975delCTCATTCACA	CCDS10881.1																																																																																				0.414	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		27	94						27	94	---	---	---	---
TNK1	8711	broad.mit.edu	37	17	7291834	7291835	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr17:7291834_7291835insG	ENST00000576812.1	+	11	1971_1972	c.1602_1603insG	c.(1603-1605)ggcfs	p.G535fs	TNK1_ENST00000311668.2_Frame_Shift_Ins_p.G530fs|TNK1_ENST00000570896.1_Frame_Shift_Ins_p.G530fs	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				AGGGACCTCCAGGCCTGCCTCC	0.614																																						ENST00000570896.1																			0				central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16						c.(1585-1590)ccgcctfs		tyrosine kinase, non-receptor, 1																																				SO:0001589	frameshift_variant	8711				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chr17:7291834_7291835insG	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1604dupG	17.37:g.7291836_7291836dupG	ENSP00000459799:p.Gly535fs					TNK1_ENST00000576812.1_Frame_Shift_Ins_p.P535fs|TNK1_ENST00000311668.2_Frame_Shift_Ins_p.P530fs	p.P530fs			Q13470	TNK1_HUMAN			12	2033_2034	+		Prostate(122;0.157)	535			Pro-rich.			Frame_Shift_Ins	INS	ENST00000576812.1	37	c.1587_1588insG	CCDS58510.1																																																																																				0.614	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985		21	53						21	53	---	---	---	---
SRSF6	6431	broad.mit.edu	37	20	42089617	42089619	+	In_Frame_Del	DEL	CCT	CCT	-	rs149557843	byFrequency	TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr20:42089617_42089619delCCT	ENST00000244020.3	+	6	1055_1057	c.949_951delCCT	c.(949-951)cctdel	p.P319del		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	319	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TTCTGTGTCCCCTCCACCAAAAA	0.478																																						ENST00000244020.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(949-951)del		serine/arginine-rich splicing factor 6																																				SO:0001651	inframe_deletion	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42089617_42089619delCCT	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.949_951delCCT	20.37:g.42089617_42089619delCCT	ENSP00000244020:p.Pro319del						p.P319del	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			6	1055_1057	+			319			Arg/Ser-rich (RS domain).		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	In_Frame_Del	DEL	ENST00000244020.3	37	c.949_951delCCT	CCDS13318.1																																																																																				0.478	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		22	75						22	75	---	---	---	---
TOX2	84969	broad.mit.edu	37	20	42574639	42574651	+	Frame_Shift_Del	DEL	TGCAAGACACTGG	TGCAAGACACTGG	-			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chr20:42574639_42574651delTGCAAGACACTGG	ENST00000358131.5	+	1	295_307	c.87_99delTGCAAGACACTGG	c.(85-99)cttgcaagacactggfs	p.LARHW29fs	TOX2_ENST00000423191.2_Intron|TOX2_ENST00000372999.1_Intron|TOX2_ENST00000341197.4_Intron	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	29					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A30E(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCCTTCTACTTGCAAGACACTGGTGCATTGCAG	0.587																																						ENST00000358131.5																			1	Substitution - Missense(1)	p.A30E(1)	ovary(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(85-99)ctfs		TOX high mobility group box family member 2																																				SO:0001589	frameshift_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42574639_42574651delTGCAAGACACTGG	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.87_99delTGCAAGACACTGG	20.37:g.42574639_42574651delTGCAAGACACTGG	ENSP00000350849:p.Leu29fs					TOX2_ENST00000423191.1_Intron|TOX2_ENST00000372999.1_Intron|TOX2_ENST00000341197.3_Intron	p.LARHW29fs	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	295_307	+		Myeloproliferative disorder(115;0.00452)	29					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Frame_Shift_Del	DEL	ENST00000358131.5	37	c.87_99delTGCAAGACACTGG	CCDS42875.1																																																																																				0.587	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			7	40						7	40	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53592084	53592087	+	Frame_Shift_Del	DEL	GACT	GACT	-			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:53592084_53592087delGACT	ENST00000342160.3	-	49	7278_7281	c.6821_6824delAGTC	c.(6820-6825)aagtctfs	p.KS2274fs	HUWE1_ENST00000262854.6_Frame_Shift_Del_p.KS2274fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2274					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCCTGCTCAGACTTGTTCTTGCT	0.52																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(6820-6825)atfs		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53592084_53592087delGACT	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6821_6824delAGTC	X.37:g.53592084_53592087delGACT	ENSP00000340648:p.Lys2274fs					HUWE1_ENST00000262854.6_Frame_Shift_Del_p.KS2274fs	p.KS2274fs			Q7Z6Z7	HUWE1_HUMAN			49	7278_7281	-			2274					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Frame_Shift_Del	DEL	ENST00000342160.3	37	c.6821_6824delAGTC	CCDS35301.1																																																																																				0.520	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		37	33						37	33	---	---	---	---
ARHGEF6	9459	broad.mit.edu	37	X	135825852	135825852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6II-01A-11D-A31L-08	TCGA-QK-A6II-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49d64104-0345-4a84-b039-c7d76631b300	4e6f3c43-f771-46e9-930d-113f837e12ae	g.chrX:135825852delC	ENST00000250617.6	-	5	1758	c.553delG	c.(553-555)gacfs	p.D185fs	ARHGEF6_ENST00000370622.1_Frame_Shift_Del_p.D31fs|ARHGEF6_ENST00000370620.1_Frame_Shift_Del_p.D31fs|ARHGEF6_ENST00000535227.1_Frame_Shift_Del_p.D31fs	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	185	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TAAATGATGTCCCCCTTACAA	0.423																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(553-555)acfs		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							235.0	193.0	207.0					X																	135825852		2203	4300	6503	SO:0001589	frameshift_variant	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135825852delC	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.553delG	X.37:g.135825852delC	ENSP00000250617:p.Asp185fs					ARHGEF6_ENST00000370620.1_Frame_Shift_Del_p.D31fs|ARHGEF6_ENST00000535227.1_Frame_Shift_Del_p.D31fs|ARHGEF6_ENST00000370622.1_Frame_Shift_Del_p.D31fs	p.D185fs	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			5	1758	-	Acute lymphoblastic leukemia(192;0.000127)		185			SH3.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Frame_Shift_Del	DEL	ENST00000250617.6	37	c.553delG	CCDS14660.1																																																																																				0.423	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		77	52						77	52	---	---	---	---
