#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
FBN2	2201	broad.mit.edu	37	5	127640762	127640762	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr5:127640762C>A	ENST00000508053.1	-	51	6661	c.5687G>T	c.(5686-5688)tGt>tTt	p.C1896F	FBN2_ENST00000262464.4_Missense_Mutation_p.C1896F			P35556	FBN2_HUMAN	fibrillin 2	1896	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AATTTCTAAACATTCATTGCG	0.353																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(5686-5688)tGt>tTt		fibrillin 2							72.0	61.0	64.0					5																	127640762		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127640762C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5687G>T	5.37:g.127640762C>A	ENSP00000424571:p.Cys1896Phe					FBN2_ENST00000262464.4_Missense_Mutation_p.C1896F	p.C1896F			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	51	6661	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1896			EGF-like 31; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5687G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303438	0.81136	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.99445	-5.91;-5.91	5.03	5.03	0.67393	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000004	D	0.99822	0.9921	H	0.99825	4.815	0.80722	D	1	D	0.65815	0.995	D	0.68621	0.959	D	0.96431	0.9319	10	0.87932	D	0	.	18.5696	0.91130	0.0:1.0:0.0:0.0	.	1896	P35556	FBN2_HUMAN	F	1896	ENSP00000262464:C1896F;ENSP00000424571:C1896F	ENSP00000262464:C1896F	C	-	2	0	FBN2	127668661	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.609000	0.82925	2.619000	0.88677	0.467000	0.42956	TGT		0.353	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		3	32	1	0	0.115264	1	0.117665	3	32				
MUC16	94025	broad.mit.edu	37	19	9088746	9088746	+	Silent	SNP	T	T	C			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:9088746T>C	ENST00000397910.4	-	1	3272	c.3069A>G	c.(3067-3069)acA>acG	p.T1023T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1023	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCTCTGTTGTGAGGATGG	0.468																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(3067-3069)acA>acG		mucin 16, cell surface associated							193.0	183.0	187.0					19																	9088746		1983	4164	6147	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088746T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3069A>G	19.37:g.9088746T>C							p.T1023T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	3272	-			1023			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.3069A>G	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		81	122	0	0	0	1	0	81	122				
KCNT1	57582	broad.mit.edu	37	9	138676392	138676392	+	Silent	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr9:138676392G>A	ENST00000263604.3	+	26	2898	c.2898G>A	c.(2896-2898)aaG>aaA	p.K966K	KCNT1_ENST00000491806.2_Silent_p.K952K|KCNT1_ENST00000298480.5_Silent_p.K985K|KCNT1_ENST00000371757.2_Silent_p.K985K|KCNT1_ENST00000487664.1_Silent_p.K940K|KCNT1_ENST00000486577.2_Silent_p.K944K|KCNT1_ENST00000488444.2_Silent_p.K966K|KCNT1_ENST00000490355.2_Silent_p.K964K			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	966					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTTCGTGAAGGACTACATGA	0.697																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2953-2955)aaG>aaA		potassium channel, subfamily T, member 1							12.0	13.0	12.0					9																	138676392		2167	4280	6447	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138676392G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2898G>A	9.37:g.138676392G>A						KCNT1_ENST00000371757.2_Silent_p.K985K|KCNT1_ENST00000488444.2_Silent_p.K966K|KCNT1_ENST00000263604.3_Silent_p.K966K|KCNT1_ENST00000487664.1_Silent_p.K940K|KCNT1_ENST00000486577.2_Silent_p.K944K|KCNT1_ENST00000490355.2_Silent_p.K964K|KCNT1_ENST00000491806.2_Silent_p.K952K	p.K985K			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	26	3029	+		Myeloproliferative disorder(178;0.0821)	985					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.2955G>A																																																																																					0.697	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		10	6	0	0	0	1	0	10	6				
FAM3B	54097	broad.mit.edu	37	21	42710402	42710402	+	Silent	SNP	C	C	T	rs376038821		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr21:42710402C>T	ENST00000357985.2	+	3	407	c.261C>T	c.(259-261)taC>taT	p.Y87Y	FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Silent_p.Y110Y|FAM3B_ENST00000398647.3_Silent_p.Y39Y|FAM3B_ENST00000398652.3_Silent_p.Y126Y	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	87					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GAAGCAAGTACGCCAAAATCT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20252	0.0		0.0	False		,,,				2504	0.001					ENST00000398652.3																			0				central_nervous_system(2)|endometrium(1)|lung(2)	5						c.(376-378)taC>taT		family with sequence similarity 3, member B							121.0	103.0	109.0					21																	42710402		2203	4300	6503	SO:0001819	synonymous_variant	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42710402C>T	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.261C>T	21.37:g.42710402C>T						FAM3B_ENST00000398647.3_Silent_p.Y39Y|FAM3B_ENST00000357985.2_Silent_p.Y87Y|FAM3B_ENST00000398646.3_Silent_p.Y110Y|FAM3B_ENST00000479810.2_3'UTR	p.Y126Y			P58499	FAM3B_HUMAN			4	444	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	87						Silent	SNP	ENST00000357985.2	37	c.378C>T	CCDS13671.1																																																																																				0.502	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		38	56	0	0	0	1	0	38	56				
TRIM41	90933	broad.mit.edu	37	5	180661549	180661549	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr5:180661549G>A	ENST00000315073.5	+	6	2377	c.1667G>A	c.(1666-1668)gGc>gAc	p.G556D	TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	556	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCACCAACGGCAAACGCTAT	0.657																																						ENST00000315073.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1666-1668)gGc>gAc		tripartite motif containing 41							72.0	75.0	74.0					5																	180661549		2203	4300	6503	SO:0001583	missense	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180661549G>A	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1667G>A	5.37:g.180661549G>A	ENSP00000320869:p.Gly556Asp					TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Intron	p.G556D	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	2377	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	556			B30.2/SPRY.		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.1667G>A	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626993	0.28978	.	.	ENSG00000146063	ENST00000315073;ENST00000438174	T	0.61158	0.13	4.87	4.0	0.46444	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000013	T	0.47469	0.1447	L	0.31804	0.96	0.38827	D	0.95576	B	0.33883	0.43	B	0.39771	0.309	T	0.51980	-0.8636	10	0.49607	T	0.09	.	9.1647	0.37043	0.0996:0.0:0.9004:0.0	.	556	Q8WV44	TRI41_HUMAN	D	556;241	ENSP00000320869:G556D	ENSP00000320869:G556D	G	+	2	0	TRIM41	180594155	1.000000	0.71417	0.970000	0.41538	0.014000	0.08584	4.931000	0.63469	1.410000	0.46936	0.455000	0.32223	GGC		0.657	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		4	151	0	0	0	1	0	4	151				
NAT10	55226	broad.mit.edu	37	11	34139764	34139764	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr11:34139764G>A	ENST00000257829.3	+	7	801	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	NAT10_ENST00000531159.2_Missense_Mutation_p.V127I|NAT10_ENST00000527971.1_Missense_Mutation_p.V199I	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	199						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAAGTGTCTCGTCATTGATGA	0.532																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(595-597)Gtc>Atc		N-acetyltransferase 10 (GCN5-related)							107.0	98.0	101.0					11																	34139764		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34139764G>A	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.595G>A	11.37:g.34139764G>A	ENSP00000257829:p.Val199Ile					NAT10_ENST00000527971.1_Missense_Mutation_p.V199I|NAT10_ENST00000531159.2_Missense_Mutation_p.V127I	p.V199I	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN			7	801	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	199					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.595G>A	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696939	0.88830	.	.	ENSG00000135372	ENST00000257829;ENST00000531159;ENST00000527971	T;T	0.35789	1.29;1.3	4.92	4.92	0.64577	Domain of unknown function DUF1726 (1);	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	M	0.81112	2.525	0.80722	D	1	P	0.45240	0.854	P	0.45856	0.495	T	0.50136	-0.8863	10	0.21540	T	0.41	-24.1795	18.1377	0.89624	0.0:0.0:1.0:0.0	.	199	Q9H0A0	NAT10_HUMAN	I	199;127;199	ENSP00000257829:V199I;ENSP00000433011:V127I	ENSP00000257829:V199I	V	+	1	0	NAT10	34096340	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	9.591000	0.98241	2.274000	0.75844	0.484000	0.47621	GTC		0.532	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		43	49	0	0	0	1	0	43	49				
LIMK1	3984	broad.mit.edu	37	7	73520287	73520287	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:73520287A>G	ENST00000336180.2	+	6	742	c.691A>G	c.(691-693)Atc>Gtc	p.I231V	LIMK1_ENST00000418310.1_Missense_Mutation_p.I261V|LIMK1_ENST00000538333.3_Missense_Mutation_p.I197V	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	231	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	TGGCACGCCCATCCGAAATGT	0.607																																						ENST00000418310.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(781-783)Atc>Gtc		LIM domain kinase 1							115.0	98.0	104.0					7																	73520287		2203	4300	6503	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73520287A>G	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.691A>G	7.37:g.73520287A>G	ENSP00000336740:p.Ile231Val					LIMK1_ENST00000538333.3_Missense_Mutation_p.I197V|LIMK1_ENST00000336180.2_Missense_Mutation_p.I231V	p.I261V			P53667	LIMK1_HUMAN			6	883	+		Lung NSC(55;0.137)	231					B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.781A>G	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	A	8.599	0.886373	0.17540	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.26810	1.71;1.71;1.71	4.97	4.97	0.65823	PDZ/DHR/GLGF (4);	0.050913	0.85682	D	0.000000	T	0.11537	0.0281	N	0.05012	-0.13	0.58432	D	0.999995	B;B;B	0.28026	0.198;0.069;0.012	B;B;B	0.30316	0.114;0.098;0.035	T	0.08911	-1.0699	10	0.02654	T	1	-28.3625	12.6805	0.56918	1.0:0.0:0.0:0.0	.	126;197;231	Q59FA3;B7Z6I8;P53667	.;.;LIMK1_HUMAN	V	261;231;231;197	ENSP00000409717:I261V;ENSP00000336740:I231V;ENSP00000444452:I197V	ENSP00000336740:I231V	I	+	1	0	LIMK1	73158223	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.945000	0.75947	1.898000	0.54952	0.524000	0.50904	ATC		0.607	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		42	51	0	0	0	1	0	42	51				
NFAT5	10725	broad.mit.edu	37	16	69727267	69727267	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr16:69727267C>T	ENST00000354436.2	+	12	3803	c.3485C>T	c.(3484-3486)gCa>gTa	p.A1162V	NFAT5_ENST00000432919.1_Missense_Mutation_p.A1180V|NFAT5_ENST00000567239.1_Missense_Mutation_p.A1179V|NFAT5_ENST00000393742.2_Missense_Mutation_p.A1086V|NFAT5_ENST00000566899.1_Missense_Mutation_p.A1086V|NFAT5_ENST00000349945.1_Missense_Mutation_p.A1086V	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1162					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						GCATTTTTTGCAGCACCGAAC	0.428																																						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.(3256-3258)gCa>gTa		nuclear factor of activated T-cells 5, tonicity-responsive							137.0	129.0	131.0					16																	69727267		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727267C>T	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.3485C>T	16.37:g.69727267C>T	ENSP00000346420:p.Ala1162Val					NFAT5_ENST00000393742.2_Missense_Mutation_p.A1086V|NFAT5_ENST00000566899.1_Missense_Mutation_p.A1086V|NFAT5_ENST00000354436.2_Missense_Mutation_p.A1162V|NFAT5_ENST00000432919.1_Missense_Mutation_p.A1180V|NFAT5_ENST00000567239.1_Missense_Mutation_p.A1179V	p.A1086V	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	4809	+			1162					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.3257C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501591	0.44455	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.59	5.59	0.84812	.	0.254317	0.37053	N	0.002272	T	0.37183	0.0994	L	0.36672	1.1	0.37395	D	0.912595	B;B;B	0.20052	0.041;0.041;0.041	B;B;B	0.16289	0.015;0.015;0.015	T	0.20273	-1.0280	10	0.27082	T	0.32	-3.3624	19.6131	0.95618	0.0:1.0:0.0:0.0	.	1179;1162;1180	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	V	1180;1179;1086;1162;1086	ENSP00000396538:A1180V;ENSP00000338806:A1086V;ENSP00000346420:A1162V;ENSP00000377343:A1086V	ENSP00000338806:A1086V	A	+	2	0	NFAT5	68284768	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.573000	0.67417	2.638000	0.89438	0.650000	0.86243	GCA		0.428	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		4	171	0	0	0	1	0	4	171				
BPTF	2186	broad.mit.edu	37	17	65909179	65909179	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr17:65909179G>T	ENST00000321892.4	+	13	5618	c.5557G>T	c.(5557-5559)Gac>Tac	p.D1853Y	BPTF_ENST00000306378.6_Missense_Mutation_p.D1727Y|BPTF_ENST00000335221.5_Missense_Mutation_p.D1853Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D1714Y			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1853					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCCTAATGATGACTTAAAAAA	0.398																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(5557-5559)Gac>Tac		bromodomain PHD finger transcription factor							87.0	90.0	89.0					17																	65909179		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65909179G>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5557G>T	17.37:g.65909179G>T	ENSP00000315454:p.Asp1853Tyr					BPTF_ENST00000306378.6_Missense_Mutation_p.D1727Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D1714Y|BPTF_ENST00000335221.5_Missense_Mutation_p.D1853Y	p.D1853Y			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		13	5618	+	all_cancers(12;6e-11)		1853					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.5557G>T		.	.	.	.	.	.	.	.	.	.	G	15.82	2.944952	0.53079	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.64438	-0.1;-0.09;-0.09	5.76	5.76	0.90799	.	.	.	.	.	T	0.72301	0.3443	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.74051	-0.3789	9	0.87932	D	0	-11.6113	19.9381	0.97149	0.0:0.0:1.0:0.0	.	1727;1853	Q12830-2;Q12830-4	.;.	Y	1727;1853;1853	ENSP00000307208:D1727Y;ENSP00000334351:D1853Y;ENSP00000315454:D1853Y	ENSP00000307208:D1727Y	D	+	1	0	BPTF	63339641	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.781000	0.99029	2.880000	0.98712	0.650000	0.86243	GAC		0.398	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		4	121	1	0	1	1	1	4	121				
PDGFRL	5157	broad.mit.edu	37	8	17447012	17447012	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:17447012A>G	ENST00000541323.1	+	3	536	c.91A>G	c.(91-93)Aaa>Gaa	p.K31E	PDGFRL_ENST00000251630.6_Missense_Mutation_p.K31E|PDGFRL_ENST00000398074.3_Missense_Mutation_p.K31E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	31					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)		CAAGCGTCCAAAAGAACCAGG	0.428																																						ENST00000541323.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9						c.(91-93)Aaa>Gaa		platelet-derived growth factor receptor-like							146.0	149.0	148.0					8																	17447012		2203	4300	6503	SO:0001583	missense	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17447012A>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.91A>G	8.37:g.17447012A>G	ENSP00000444211:p.Lys31Glu					PDGFRL_ENST00000398074.3_Missense_Mutation_p.K31E|PDGFRL_ENST00000251630.6_Missense_Mutation_p.K31E	p.K31E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	3	536	+			31					A8K085|Q6FH04	Missense_Mutation	SNP	ENST00000541323.1	37	c.91A>G	CCDS6003.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.043159	0.75732	.	.	ENSG00000104213	ENST00000251630;ENST00000541323;ENST00000398074	T;T;T	0.49432	0.78;0.78;0.78	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.70275	2.135	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.70605	-0.4826	10	0.62326	D	0.03	-10.7308	14.3118	0.66422	1.0:0.0:0.0:0.0	.	31	Q15198	PGFRL_HUMAN	E	31	ENSP00000251630:K31E;ENSP00000444211:K31E;ENSP00000381149:K31E	ENSP00000251630:K31E	K	+	1	0	PDGFRL	17491272	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	8.435000	0.90297	2.026000	0.59711	0.482000	0.46254	AAA		0.428	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		101	138	0	0	0	1	0	101	138				
FAM199X	139231	broad.mit.edu	37	X	103432819	103432819	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chrX:103432819C>A	ENST00000493442.1	+	5	994	c.828C>A	c.(826-828)agC>agA	p.S276R	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	276	Ser-rich.									breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GTGGAGTGAGCGGTGCCAGTG	0.552																																						ENST00000493442.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(826-828)agC>agA		family with sequence similarity 199, X-linked							107.0	96.0	100.0					X																	103432819		2203	4300	6503	SO:0001583	missense	139231							g.chrX:103432819C>A	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.828C>A	X.37:g.103432819C>A	ENSP00000417581:p.Ser276Arg					FAM199X_ENST00000299906.5_3'UTR	p.S276R	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN			5	994	+			276			Ser-rich.		Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	c.828C>A	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297179	0.23650	.	.	ENSG00000123575	ENST00000493442	T	0.46451	0.87	5.15	2.39	0.29439	.	0.076475	0.85682	D	0.000000	T	0.51890	0.1701	L	0.54323	1.7	0.58432	D	0.999991	P;D	0.71674	0.462;0.998	B;D	0.75484	0.214;0.986	T	0.44892	-0.9298	9	.	.	.	-8.6206	6.0885	0.19980	0.0:0.4953:0.0:0.5047	.	276;276	Q6PEV8-2;Q6PEV8	.;F199X_HUMAN	R	276	ENSP00000417581:S276R	.	S	+	3	2	FAM199X	103319475	0.585000	0.26774	1.000000	0.80357	0.997000	0.91878	-0.215000	0.09279	0.496000	0.27904	0.506000	0.49869	AGC		0.552	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		4	98	1	0	0.00909568	1	0.00968888	4	98				
OR5M8	219484	broad.mit.edu	37	11	56258374	56258374	+	Missense_Mutation	SNP	T	T	C	rs142719978		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr11:56258374T>C	ENST00000327216.2	-	1	497	c.473A>G	c.(472-474)gAg>gGg	p.E158G		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCACATGGTCTCCATCAGGCC	0.512																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(472-474)gAg>gGg		olfactory receptor, family 5, subfamily M, member 8							86.0	83.0	84.0					11																	56258374		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258374T>C	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.473A>G	11.37:g.56258374T>C	ENSP00000323354:p.Glu158Gly						p.E158G	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	497	-	Esophageal squamous(21;0.00352)		158					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.473A>G	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.766526	0.49574	.	.	ENSG00000181371	ENST00000327216	T	0.00130	8.69	4.35	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40469	N	0.001099	T	0.00144	0.0004	L	0.42744	1.35	0.21553	N	0.999643	P	0.36837	0.571	B	0.42959	0.403	T	0.24476	-1.0159	10	0.87932	D	0	-19.107	4.5709	0.12208	0.1957:0.0:0.203:0.6014	.	158	Q8NGP6	OR5M8_HUMAN	G	158	ENSP00000323354:E158G	ENSP00000323354:E158G	E	-	2	0	OR5M8	56014950	0.000000	0.05858	0.999000	0.59377	0.910000	0.53928	0.048000	0.14078	0.621000	0.30232	0.514000	0.50259	GAG		0.512	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		48	75	0	0	0	1	0	48	75				
THRAP3	9967	broad.mit.edu	37	1	36752352	36752352	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr1:36752352G>A	ENST00000354618.5	+	4	745	c.521G>A	c.(520-522)cGc>cAc	p.R174H	THRAP3_ENST00000469141.2_Missense_Mutation_p.R174H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	174	Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTTCTAAGCGCAAGTCTGCA	0.517			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(520-522)cGc>cAc		thyroid hormone receptor associated protein 3							188.0	199.0	195.0					1																	36752352		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752352G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.521G>A	1.37:g.36752352G>A	ENSP00000346634:p.Arg174His					THRAP3_ENST00000469141.2_Missense_Mutation_p.R174H	p.R174H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			4	745	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	174			Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.521G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136105	0.37728	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.14022	2.54;2.54	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.23289	0.0563	L	0.59436	1.845	0.42438	D	0.992706	P	0.51791	0.948	P	0.47015	0.534	T	0.00360	-1.1790	10	0.46703	T	0.11	-1.2594	18.8828	0.92364	0.0:0.0:1.0:0.0	.	174	Q9Y2W1	TR150_HUMAN	H	174	ENSP00000346634:R174H;ENSP00000433825:R174H	ENSP00000346634:R174H	R	+	2	0	THRAP3	36524939	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.561000	0.53770	2.711000	0.92665	0.655000	0.94253	CGC		0.517	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		5	394	0	0	0	1	0	5	394				
DSG2	1829	broad.mit.edu	37	18	29121270	29121270	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr18:29121270A>G	ENST00000261590.8	+	13	2203	c.1994A>G	c.(1993-1995)gAa>gGa	p.E665G	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	665					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GCACCACCTGAAGACAAGGTC	0.473																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(1993-1995)gAa>gGa		desmoglein 2							74.0	63.0	66.0					18																	29121270		1920	4132	6052	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29121270A>G	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1994A>G	18.37:g.29121270A>G	ENSP00000261590:p.Glu665Gly						p.E665G	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		13	2203	+			665					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.1994A>G	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.778727	0.90195	.	.	ENSG00000046604	ENST00000261590	T	0.62639	0.01	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000004	T	0.81422	0.4819	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.84442	0.0583	10	0.87932	D	0	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	665	Q14126	DSG2_HUMAN	G	665	ENSP00000261590:E665G	ENSP00000261590:E665G	E	+	2	0	DSG2	27375268	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	6.578000	0.74032	2.367000	0.80283	0.528000	0.53228	GAA		0.473	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		9	39	0	0	0	1	0	9	39				
CSF2RA	1438	broad.mit.edu	37	X	1413343	1413343	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chrX:1413343G>A	ENST00000381524.3	+	8	955	c.769G>A	c.(769-771)Gtc>Atc	p.V257I	CSF2RA_ENST00000355805.2_Intron|BX649553.1_ENST00000583047.1_RNA|MIR3690_ENST00000580266.1_RNA|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V257I|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V257I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V257I|BX649553.2_ENST00000578699.1_RNA|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V124I|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	257	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	CCAGCTGGACGTCCACAGAAA	0.632																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(769-771)Gtc>Atc		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						193.0	159.0	171.0					X																	1413343		2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1413343G>A	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.769G>A	X.37:g.1413343G>A	ENSP00000370935:p.Val257Ile					CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V257I|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V257I|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V124I|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V257I|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V257I	p.V257I			P15509	CSF2R_HUMAN			8	955	+		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)	257					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.769G>A	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.650330	0.00785	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	1.54	0.123	0.14709	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.317619	0.19969	N	0.102033	T	0.59128	0.2171	.	.	.	0.09310	N	1	B;B;B;B;B	0.28178	0.061;0.0;0.1;0.202;0.048	B;B;B;B;B	0.12837	0.008;0.0;0.004;0.008;0.004	T	0.51694	-0.8673	9	0.06494	T	0.89	.	3.3447	0.07131	0.7328:0.0:0.2672:0.0	.	257;257;257;257;257	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	I	257;257;257;257;124;257;257;257;257;257	ENSP00000370940:V257I;ENSP00000416437:V257I;ENSP00000354836:V257I;ENSP00000440491:V124I;ENSP00000370935:V257I;ENSP00000370920:V257I;ENSP00000347606:V257I;ENSP00000394227:V257I;ENSP00000370911:V257I	ENSP00000347606:V257I	V	+	1	0	CSF2RA	1373343	0.013000	0.17824	0.797000	0.32132	0.311000	0.27955	-0.030000	0.12308	-0.124000	0.11724	0.100000	0.15512	GTC		0.632	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			43	71	0	0	0	1	0	43	71				
ZNF616	90317	broad.mit.edu	37	19	52618795	52618795	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:52618795C>G	ENST00000600228.1	-	4	1883	c.1622G>C	c.(1621-1623)aGa>aCa	p.R541T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	541					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(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGTATGAATTCTCCGATGCCT	0.443																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1621-1623)aGa>aCa		zinc finger protein 616							99.0	95.0	96.0					19																	52618795		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618795C>G	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1622G>C	19.37:g.52618795C>G	ENSP00000471000:p.Arg541Thr					ZNF616_ENST00000330123.5_3'UTR	p.R541T	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1883	-			541					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1622G>C	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068176	0.36470	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53850	0.1822	M	0.80982	2.52	0.21445	N	0.999686	D	0.67145	0.996	D	0.64877	0.93	T	0.48019	-0.9071	8	0.66056	D	0.02	.	0.9375	0.01348	0.1711:0.3868:0.1705:0.2716	.	541	Q08AN1	ZN616_HUMAN	T	541	.	ENSP00000328722:R541T	R	-	2	0	ZNF616	57310607	0.000000	0.05858	0.010000	0.14722	0.468000	0.32798	-3.018000	0.00644	-1.159000	0.02807	0.305000	0.20034	AGA		0.443	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		35	61	0	0	0	1	0	35	61				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	53	0	0	0	1	0	21	53				
OR11H6	122748	broad.mit.edu	37	14	20692401	20692401	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr14:20692401T>C	ENST00000315519.2	+	1	611	c.533T>C	c.(532-534)aTt>aCt	p.I178T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CCAGTCCCTATTGTTCTTATC	0.502																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(532-534)aTt>aCt		olfactory receptor, family 11, subfamily H, member 6							96.0	94.0	94.0					14																	20692401		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692401T>C		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.533T>C	14.37:g.20692401T>C	ENSP00000319071:p.Ile178Thr						p.I178T	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	611	+	all_cancers(95;0.00108)		178					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.533T>C	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	T	1.147	-0.647930	0.03506	.	.	ENSG00000176219	ENST00000315519	T	0.00020	9.05	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.120506	0.37095	N	0.002246	T	0.00073	0.0002	N	0.05050	-0.12	0.09310	N	1	B	0.20459	0.045	B	0.26517	0.07	T	0.14062	-1.0486	10	0.02654	T	1	.	10.7187	0.46028	0.0:0.0:0.0:1.0	.	178	Q8NGC7	O11H6_HUMAN	T	178	ENSP00000319071:I178T	ENSP00000319071:I178T	I	+	2	0	OR11H6	19762241	0.000000	0.05858	0.968000	0.41197	0.226000	0.24999	0.430000	0.21428	2.026000	0.59711	0.240000	0.17902	ATT		0.502	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			21	19	0	0	0	1	0	21	19				
TNKS	8658	broad.mit.edu	37	8	9588459	9588459	+	Silent	SNP	C	C	T	rs372527063		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:9588459C>T	ENST00000310430.6	+	14	2087	c.2061C>T	c.(2059-2061)ccC>ccT	p.P687P	TNKS_ENST00000518281.1_Silent_p.P450P	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	687					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATTCCACGCCCTTACACTTCG	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13627	0.0		0.0	False		,,,				2504	0.0					ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(2059-2061)ccC>ccT		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase		C		2,4404	4.2+/-10.8	0,2,2201	123.0	109.0	114.0		2061	0.1	0.0	8		114	0,8600		0,0,4300	no	coding-synonymous	TNKS	NM_003747.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		687/1328	9588459	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9588459C>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2061C>T	8.37:g.9588459C>T						TNKS_ENST00000518281.1_Silent_p.P450P	p.P687P	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	14	2087	+			687					O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	c.2061C>T	CCDS5974.1																																																																																				0.498	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		31	53	0	0	0	1	0	31	53				
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr17:7578235T>G	ENST00000269305.4	-	6	803	c.614A>C	c.(613-615)tAt>tCt	p.Y205S	TP53_ENST00000420246.2_Missense_Mutation_p.Y205S|TP53_ENST00000445888.2_Missense_Mutation_p.Y205S|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000359597.4_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S	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	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)	GTCATCCAAATACTCCACACG	0.542		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"""		117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(613-615)tAt>tCt	Other conserved DNA damage response genes	tumor protein p53							136.0	121.0	126.0					17																	7578235		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.chr17:7578235T>G	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.614A>C	17.37:g.7578235T>G	ENSP00000269305:p.Tyr205Ser	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.Y205S|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S|TP53_ENST00000445888.2_Missense_Mutation_p.Y205S|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000269305.4_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron	p.Y205S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	746	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.614A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897640	0.72639	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92738	3.34	0.58432	D	0.999999	P;D;P;P;D;P;P	0.58268	0.766;0.982;0.89;0.954;0.974;0.853;0.943	P;P;P;P;P;P;P	0.61940	0.714;0.829;0.681;0.781;0.896;0.781;0.623	D	0.97292	0.9925	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205S;ENSP00000352610:Y205S;ENSP00000269305:Y205S;ENSP00000398846:Y205S;ENSP00000391127:Y205S;ENSP00000391478:Y205S;ENSP00000425104:Y73S;ENSP00000423862:Y112S	ENSP00000269305:Y205S	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		57	9	0	0	0	1	0	57	9				
LILRB4	11006	broad.mit.edu	37	19	55179342	55179342	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:55179342C>T	ENST00000391736.1	+	14	1534	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	407					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.P407S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ATCTGAAGCCCCCCAGGATGT	0.647																																						ENST00000391736.1																			1	Substitution - Missense(1)	p.P407S(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(1219-1221)Ccc>Tcc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							62.0	67.0	66.0					19																	55179342		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179342C>T	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1219C>T	19.37:g.55179342C>T	ENSP00000375616:p.Pro407Ser					LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S	p.P407S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	14	1534	+			407					A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.1219C>T	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556618	0.27827	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00505	7.11;7.11;7.11;6.93;7.12	2.07	2.07	0.26955	.	.	.	.	.	T	0.00906	0.0030	L	0.48935	1.535	0.20764	N	0.999854	D;D;B;B	0.76494	0.999;0.999;0.007;0.001	D;D;B;B	0.76575	0.972;0.988;0.01;0.001	T	0.57946	-0.7723	9	0.22706	T	0.39	.	7.5752	0.27931	0.0:1.0:0.0:0.0	.	354;408;406;407	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	S	407;407;406;354;408	ENSP00000375616:P407S;ENSP00000270452:P407S;ENSP00000408995:P406S;ENSP00000375614:P354S;ENSP00000375613:P408S	ENSP00000270452:P407S	P	+	1	0	LILRB4	59871154	0.007000	0.16637	0.721000	0.30653	0.421000	0.31385	0.250000	0.18235	1.166000	0.42689	0.407000	0.27541	CCC		0.647	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			5	131	0	0	0	1	0	5	131				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			0							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		3	30	0	0	0	1	0	3	30				
SLX4	84464	broad.mit.edu	37	16	3640627	3640627	+	Silent	SNP	G	G	A	rs533668167		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr16:3640627G>A	ENST00000294008.3	-	12	3652	c.3012C>T	c.(3010-3012)ccC>ccT	p.P1004P		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1004	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTTGTTCCTCGGGCTCACTTG	0.577								Direct reversal of damage					G|||	1	0.000199681	0.0	0.0	5008	,	,		17751	0.0		0.001	False		,,,				2504	0.0					ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(3010-3012)ccC>ccT	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							68.0	69.0	68.0					16																	3640627		2197	4300	6497	SO:0001819	synonymous_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640627G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3012C>T	16.37:g.3640627G>A							p.P1004P	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3652	-			1004			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.3012C>T	CCDS10506.2																																																																																				0.577	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		13	100	0	0	0	1	0	13	100				
POLQ	10721	broad.mit.edu	37	3	121206326	121206326	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr3:121206326C>T	ENST00000264233.5	-	16	5580	c.5452G>A	c.(5452-5454)Gcc>Acc	p.A1818T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1818					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGCTTGAGGCTGGAGTTAAC	0.398								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(5452-5454)Gcc>Acc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							146.0	141.0	143.0					3																	121206326		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206326C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5452G>A	3.37:g.121206326C>T	ENSP00000264233:p.Ala1818Thr						p.A1818T	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	5580	-			1818					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.5452G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140389	0.37825	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.51574	0.7	6.04	4.16	0.48862	.	0.702435	0.14446	N	0.319060	T	0.39036	0.1063	M	0.63428	1.95	0.19775	N	0.99995	P;B	0.43094	0.799;0.112	B;B	0.35931	0.214;0.053	T	0.20672	-1.0268	10	0.27082	T	0.32	.	7.1223	0.25453	0.2082:0.7077:0.0:0.0841	.	1818;990	O75417;O75417-2	DPOLQ_HUMAN;.	T	1441;1818;1954	ENSP00000264233:A1818T	ENSP00000264233:A1818T	A	-	1	0	POLQ	122689016	0.000000	0.05858	0.996000	0.52242	0.993000	0.82548	-0.456000	0.06754	0.750000	0.32877	0.563000	0.77884	GCC		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		5	114	0	0	0	1	0	5	114				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	44	0	0	0	1	0	4	44				
LINC00477	144360	broad.mit.edu	37	12	24736734	24736734	+	lincRNA	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr12:24736734G>A	ENST00000483544.1	-	0	368					NR_029451.2		Q96M19	CL067_HUMAN	long intergenic non-protein coding RNA 477							integral component of membrane (GO:0016021)											AGGCGAAGAAGAAAAAAAAAT	0.567																																						ENST00000483544.1																			0																				44.0	49.0	47.0					12																	24736734		2203	4300	6503			0							g.chr12:24736734G>A	AK057456		12p12.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000197503	ENSG00000197503		"""Long non-coding RNAs"""	26557	non-coding RNA	RNA, long non-coding	"""family with sequence similarity 191, member B"""		"""chromosome 12 open reading frame 67"""	C12orf67		14702039	Standard	NR_029451		Approved	FLJ32894, FAM191B	uc001rgb.1	Q96M19	OTTHUMG00000159485		12.37:g.24736734G>A								NR_029451.2						0	368	-									RNA	SNP	ENST00000483544.1	37																																																																																						0.567	LINC00477-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000355725.1	NM_144667		7	84	0	0	0	1	0	7	84				
DPP6	1804	broad.mit.edu	37	7	154002608	154002608	+	Intron	SNP	C	C	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:154002608C>T	ENST00000377770.3	+	2	384				DPP6_ENST00000427557.1_Missense_Mutation_p.S10L|DPP6_ENST00000406326.1_Intron|DPP6_ENST00000332007.3_Missense_Mutation_p.S10L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCAAGCGCTTCGGGGAAATCC	0.607																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000332007.3																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(28-30)tCg>tTg		dipeptidyl-peptidase 6							52.0	58.0	56.0					7																	154002608		1568	3579	5147	SO:0001627	intron_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154002608C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.244-140691C>T	7.37:g.154002608C>T						DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Missense_Mutation_p.S10L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000406326.1_Intron	p.S10L			P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		1	414	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	0						Missense_Mutation	SNP	ENST00000377770.3	37	c.29C>T		.	.	.	.	.	.	.	.	.	.	C	15.02	2.709881	0.48517	.	.	ENSG00000130226	ENST00000332007;ENST00000427557	T;T	0.16457	2.37;2.34	5.01	5.01	0.66863	.	.	.	.	.	T	0.13884	0.0336	.	.	.	0.23396	N	0.997768	B;P;B	0.39022	0.002;0.655;0.104	B;B;B	0.31751	0.001;0.135;0.024	T	0.14035	-1.0487	8	0.35671	T	0.21	.	17.3233	0.87241	0.0:1.0:0.0:0.0	.	10;10;10	E9PDL2;B7Z1K3;P42658-2	.;.;.	L	10	ENSP00000328226:S10L;ENSP00000397303:S10L	ENSP00000328226:S10L	S	+	2	0	DPP6	153633541	0.203000	0.23435	0.045000	0.18777	0.943000	0.58893	3.593000	0.54001	2.314000	0.78098	0.462000	0.41574	TCG		0.607	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		3	16	0	0	0	1	0	3	16				
LINC00969	440993	broad.mit.edu	37	3	195398250	195398250	+	lincRNA	SNP	C	C	A	rs80193871		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr3:195398250C>A	ENST00000445430.1	+	0	1088									long intergenic non-protein coding RNA 969																		GCACCGCTCGCCCTCACCTTC	0.572																																						ENST00000445430.1																			0																																																			0							g.chr3:195398250C>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195398250C>A														0	1088	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.572	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	29	1	0	0.00198382	1	0.00220925	3	29				
KRT82	3888	broad.mit.edu	37	12	52795111	52795111	+	Missense_Mutation	SNP	G	G	A	rs368818089		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr12:52795111G>A	ENST00000257974.2	-	3	720	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	215	Coil 1B.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ACACAGGGACGCAGGGAGAGC	0.532																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(643-645)Cgt>Tgt		keratin 82		G	CYS/ARG	0,4406		0,0,2203	99.0	95.0	96.0		643	1.7	0.7	12		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT82	NM_033033.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	215/514	52795111	1,13005	2203	4300	6503	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52795111G>A	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.643C>T	12.37:g.52795111G>A	ENSP00000257974:p.Arg215Cys					RP3-416H24.4_ENST00000547174.1_RNA	p.R215C	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	3	720	-			215			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000257974.2	37	c.643C>T	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447379	0.43429	0.0	1.16E-4	ENSG00000161850	ENST00000257974	D	0.90069	-2.61	4.89	1.73	0.24493	Filament (1);	0.000000	0.47455	D	0.000224	D	0.94440	0.8211	M	0.89414	3.03	0.44611	D	0.997586	D	0.89917	1.0	D	0.91635	0.999	D	0.94446	0.7663	10	0.87932	D	0	.	12.6514	0.56764	0.0:0.0:0.5798:0.4202	.	215	Q9NSB4	KRT82_HUMAN	C	215	ENSP00000257974:R215C	ENSP00000257974:R215C	R	-	1	0	KRT82	51081378	0.981000	0.34729	0.693000	0.30195	0.130000	0.20726	1.522000	0.35921	0.543000	0.28864	0.462000	0.41574	CGT		0.532	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		4	82	0	0	0	1	0	4	82				
TGFBI	7045	broad.mit.edu	37	5	135382574	135382574	+	Missense_Mutation	SNP	T	T	C	rs182124708		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr5:135382574T>C	ENST00000442011.2	+	5	655	c.494T>C	c.(493-495)aTt>aCt	p.I165T	TGFBI_ENST00000305126.8_Missense_Mutation_p.I165T	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	165	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATGTCAACATTGAGCTGCTC	0.537													T|||	1	0.000199681	0.0	0.0	5008	,	,		20899	0.0		0.001	False		,,,				2504	0.0					ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(493-495)aTt>aCt		transforming growth factor, beta-induced, 68kDa		T	THR/ILE	0,4166		0,0,2083	52.0	53.0	53.0		494	5.8	1.0	5		53	1,8431		0,1,4215	yes	missense	TGFBI	NM_000358.2	89	0,1,6298	CC,CT,TT		0.0119,0.0,0.0079	possibly-damaging	165/684	135382574	1,12597	2083	4216	6299	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135382574T>C	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.494T>C	5.37:g.135382574T>C	ENSP00000416330:p.Ile165Thr					TGFBI_ENST00000305126.8_Missense_Mutation_p.I165T	p.I165T	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	655	+			165			FAS1 1.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.494T>C	CCDS47266.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	25.4	4.631181	0.87660	0.0	1.19E-4	ENSG00000120708	ENST00000442011;ENST00000305126	D;D	0.90133	-2.62;-2.62	5.83	5.83	0.93111	FAS1 domain (5);	0.042843	0.85682	D	0.000000	D	0.89469	0.6724	L	0.28400	0.85	0.80722	D	1	P	0.49783	0.928	P	0.51170	0.661	D	0.89590	0.3827	10	0.44086	T	0.13	-14.6662	16.2025	0.82095	0.0:0.0:0.0:1.0	.	165	Q15582	BGH3_HUMAN	T	165	ENSP00000416330:I165T;ENSP00000306306:I165T	ENSP00000306306:I165T	I	+	2	0	TGFBI	135410473	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.186000	0.72026	2.231000	0.72958	0.459000	0.35465	ATT		0.537	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			3	34	0	0	0	1	0	3	34				
ACER2	340485	broad.mit.edu	37	9	19435024	19435024	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr9:19435024A>G	ENST00000340967.2	+	4	471	c.445A>G	c.(445-447)Atc>Gtc	p.I149V	ACER2_ENST00000380376.1_Missense_Mutation_p.I100V	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	149					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to drug (GO:0035690)|ceramide metabolic process (GO:0006672)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of protein glycosylation in Golgi (GO:0090285)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CATCAACAACATCTCTCTGAT	0.537																																						ENST00000340967.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						c.(445-447)Atc>Gtc		alkaline ceramidase 2							275.0	212.0	233.0					9																	19435024		2203	4300	6503	SO:0001583	missense	340485				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	g.chr9:19435024A>G	AK123581	CCDS34992.1	9p21.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000177076	ENSG00000177076	3.5.1.23	"""Alkaline ceramidase"""	23675	protein-coding gene	gene with protein product		613492	"""N-acylsphingosine amidohydrolase 3-like"""	ASAH3L		18945876	Standard	XM_005251447		Approved	FLJ41587	uc003zny.1	Q5QJU3	OTTHUMG00000019644	ENST00000340967.2:c.445A>G	9.37:g.19435024A>G	ENSP00000342609:p.Ile149Val					ACER2_ENST00000380376.1_Missense_Mutation_p.I100V	p.I149V	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN			4	471	+			149					A2A3R8|Q569G5|Q5VZR7|Q71RD2	Missense_Mutation	SNP	ENST00000340967.2	37	c.445A>G	CCDS34992.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.838061	0.32513	.	.	ENSG00000177076	ENST00000380376;ENST00000340967	T;T	0.39787	1.06;1.06	5.95	5.95	0.96441	.	0.112695	0.64402	D	0.000008	T	0.29783	0.0744	N	0.19112	0.55	0.47994	D	0.999565	B	0.06786	0.001	B	0.08055	0.003	T	0.09314	-1.0680	9	.	.	.	.	16.0937	0.81106	1.0:0.0:0.0:0.0	.	149	Q5QJU3	ACER2_HUMAN	V	100;149	ENSP00000369735:I100V;ENSP00000342609:I149V	.	I	+	1	0	ACER2	19425024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.320000	0.59203	2.281000	0.76405	0.528000	0.53228	ATC		0.537	ACER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051864.1	XM_294540		16	107	0	0	0	1	0	16	107				
RAI1	10743	broad.mit.edu	37	17	17699246	17699246	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr17:17699246G>A	ENST00000353383.1	+	3	3453	c.2984G>A	c.(2983-2985)gGc>gAc	p.G995D	RAI1_ENST00000261641.6_Missense_Mutation_p.G995D	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	995					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GTGCCACGGGGCAAAAGCTTA	0.662																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(2983-2985)gGc>gAc		retinoic acid induced 1							16.0	18.0	17.0					17																	17699246		2201	4295	6496	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699246G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2984G>A	17.37:g.17699246G>A	ENSP00000323074:p.Gly995Asp					RAI1_ENST00000261641.6_Missense_Mutation_p.G995D	p.G995D	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	3453	+			995					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.2984G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544758	0.65198	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.69435	-0.4;0.2	3.92	3.92	0.45320	.	0.099650	0.43919	D	0.000519	T	0.72906	0.3519	L	0.57536	1.79	0.33390	D	0.57599	D	0.89917	1.0	D	0.71414	0.973	T	0.73613	-0.3927	10	0.14656	T	0.56	.	9.8851	0.41257	0.0953:0.0:0.9047:0.0	.	995	Q7Z5J4	RAI1_HUMAN	D	995;995;995;947	ENSP00000323074:G995D;ENSP00000261641:G995D	ENSP00000261641:G995D	G	+	2	0	RAI1	17639971	1.000000	0.71417	0.987000	0.45799	0.975000	0.68041	3.170000	0.50816	2.037000	0.60232	0.491000	0.48974	GGC		0.662	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		3	37	0	0	0	1	0	3	37				
UBE3C	9690	broad.mit.edu	37	7	156932027	156932027	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:156932027A>G	ENST00000348165.5	+	1	421	c.61A>G	c.(61-63)Agg>Ggg	p.R21G	UBE3C_ENST00000389103.4_Missense_Mutation_p.R21G	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	21	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGGCGCGAGCAGGAAGGTGAG	0.751																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(61-63)Agg>Ggg		ubiquitin protein ligase E3C							10.0	11.0	10.0					7																	156932027		2158	4234	6392	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156932027A>G	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.61A>G	7.37:g.156932027A>G	ENSP00000309198:p.Arg21Gly					UBE3C_ENST00000389103.4_Missense_Mutation_p.R21G	p.R21G	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	1	421	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	21			Cis-determinant of acceptor ubiquitin- binding.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.61A>G	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	a	10.07	1.249972	0.22880	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.44482	0.92	3.92	-0.324	0.12706	.	0.113441	0.64402	U	0.000015	T	0.24275	0.0588	N	0.22421	0.69	0.42647	D	0.993436	B;B;B	0.19817	0.001;0.0;0.039	B;B;B	0.20955	0.002;0.0;0.032	T	0.07539	-1.0767	10	0.21014	T	0.42	.	9.8448	0.41021	0.4236:0.5764:0.0:0.0	.	21;21;21	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	G	21	ENSP00000309198:R21G	ENSP00000309198:R21G	R	+	1	2	UBE3C	156624788	0.988000	0.35896	0.874000	0.34290	0.274000	0.26718	1.036000	0.30228	-0.275000	0.09219	-0.633000	0.03987	AGG		0.751	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		4	45	0	0	0	1	0	4	45				
MAP3K10	4294	broad.mit.edu	37	19	40719044	40719044	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:40719044T>C	ENST00000253055.3	+	8	2074	c.1786T>C	c.(1786-1788)Tcc>Ccc	p.S596P		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	596					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCTGGGCAAGTCCCCCAAACA	0.612																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1786-1788)Tcc>Ccc		mitogen-activated protein kinase kinase kinase 10							40.0	38.0	39.0					19																	40719044		2203	4296	6499	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40719044T>C	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1786T>C	19.37:g.40719044T>C	ENSP00000253055:p.Ser596Pro						p.S596P	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			8	2074	+			596					Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.1786T>C	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.844006	0.71488	.	.	ENSG00000130758	ENST00000253055	T	0.14144	2.53	5.13	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.26991	0.0661	L	0.53249	1.67	0.41469	D	0.988097	D	0.65815	0.995	P	0.61201	0.885	T	0.00893	-1.1524	10	0.59425	D	0.04	.	10.3873	0.44148	0.0:0.0:0.1648:0.8352	.	596	Q02779	M3K10_HUMAN	P	596	ENSP00000253055:S596P	ENSP00000253055:S596P	S	+	1	0	MAP3K10	45410884	1.000000	0.71417	0.951000	0.38953	0.993000	0.82548	2.779000	0.47734	0.781000	0.33589	0.460000	0.39030	TCC		0.612	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		7	9	0	0	0	1	0	7	9				
LRIT1	26103	broad.mit.edu	37	10	86001154	86001154	+	Silent	SNP	C	C	T	rs202166415		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr10:86001154C>T	ENST00000372105.3	-	1	63	c.42G>A	c.(40-42)gcG>gcA	p.A14A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	14						integral component of endoplasmic reticulum membrane (GO:0030176)		p.A14A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGGGGGGCCACGCAAGGGCCA	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		16406	0.0		0.001	False		,,,				2504	0.0					ENST00000372105.3																			1	Substitution - coding silent(1)	p.A14A(1)	endometrium(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(40-42)gcG>gcA		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1		C		1,4397		0,1,2198	18.0	20.0	19.0		42	2.6	0.0	10		19	1,8591		0,1,4295	no	coding-synonymous	LRIT1	NM_015613.2		0,2,6493	TT,TC,CC		0.0116,0.0227,0.0154		14/624	86001154	2,12988	2199	4296	6495	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:86001154C>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.42G>A	10.37:g.86001154C>T							p.A14A	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			1	63	-			14					Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.42G>A	CCDS7373.1																																																																																				0.672	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		16	22	0	0	0	1	0	16	22				
TMC3	342125	broad.mit.edu	37	15	81641895	81641895	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr15:81641895A>G	ENST00000359440.5	-	11	1232	c.1097T>C	c.(1096-1098)gTc>gCc	p.V366A	TMC3_ENST00000558726.1_Missense_Mutation_p.V367A|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GACGAGGGAGACCACCACACT	0.552																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(1099-1101)gTc>gCc		transmembrane channel-like 3							98.0	99.0	99.0					15																	81641895		2158	4265	6423	SO:0001583	missense	342125					integral to membrane		g.chr15:81641895A>G	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1097T>C	15.37:g.81641895A>G	ENSP00000352413:p.Val366Ala					RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.V366A	p.V367A			Q7Z5M5	TMC3_HUMAN			11	1235	-			366						Missense_Mutation	SNP	ENST00000359440.5	37	c.1100T>C	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970864	0.74246	.	.	ENSG00000188869	ENST00000359440	D	0.85861	-2.04	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.90310	0.6969	M	0.64404	1.975	0.80722	D	1	D;P	0.71674	0.998;0.76	D;P	0.65987	0.94;0.603	D	0.91478	0.5202	10	0.87932	D	0	-32.2385	14.7737	0.69699	1.0:0.0:0.0:0.0	.	366;366	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	A	366	ENSP00000352413:V366A	ENSP00000352413:V366A	V	-	2	0	TMC3	79428950	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	8.897000	0.92532	1.884000	0.54569	0.533000	0.62120	GTC		0.552	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		8	14	0	0	0	1	0	8	14				
ZC3H7B	23264	broad.mit.edu	37	22	41739418	41739418	+	Splice_Site	SNP	G	G	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr22:41739418G>T	ENST00000352645.4	+	13	1554		c.e13-1		ZC3H7B_ENST00000351589.4_Splice_Site	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B						viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTGCCCATAGGCCCCCGGGC	0.617																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.e13-1		zinc finger CCCH-type containing 7B							54.0	56.0	55.0					22																	41739418		2203	4298	6501	SO:0001630	splice_region_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41739418G>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1298-1G>T	22.37:g.41739418G>T						ZC3H7B_ENST00000351589.4_Splice_Site		NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			13	1554	+								A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Splice_Site	SNP	ENST00000352645.4	37		CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486049	0.84854	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2559	0.93945	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZC3H7B	40069364	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.268000	0.78473	2.553000	0.86117	0.491000	0.48974	.		0.617	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590	Intron	4	136	1	0	0.00909568	1	0.00968888	4	136				
HTRA2	27429	broad.mit.edu	37	2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	HTRA2_ENST00000467961.1_Intron|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(52-54)ggcfs		HtrA serine peptidase 2																																				SO:0001589	frameshift_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757185_74757186insG		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.55dupG	2.37:g.74757188_74757188dupG	ENSP00000258080:p.Arg18fs					HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs	p.G18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			1	682_683	+			18					Q9HBZ4|Q9P0Y3|Q9P0Y4	Frame_Shift_Ins	INS	ENST00000258080.3	37	c.52_53insG	CCDS1951.1																																																																																				0.718	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		8	144						8	144	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			7	223						7	223	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-	rs370394378		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6679301_6679302delCA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6679311_6679312delCA										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	958	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.401	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		4	9						4	9	---	---	---	---
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386																																						ENST00000521433.1																			0																																																			0							g.chr8:89498121_89498122insA																													8.37:g.89498131_89498131dupA						RP11-586K2.1_ENST00000523254.1_RNA								0	179	+									RNA	INS	ENST00000521433.1	37																																																																																						0.386	RP11-586K2.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000375309.2			4	9						4	9	---	---	---	---
AGAP11	119385	broad.mit.edu	37	10	88767686	88767686	+	RNA	DEL	T	T	-	rs367961074		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr10:88767686delT	ENST00000444431.1	+	0	2711				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										AAAATGTATCttttttttttt	0.413																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88767686delT			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88767686delT						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	2711	+								B9EIP7|D3DWE4	RNA	DEL	ENST00000444431.1	37																																																																																						0.413	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		3	4						3	4	---	---	---	---
NIPA1	123606	broad.mit.edu	37	15	23086365	23086367	+	In_Frame_Del	DEL	GCC	GCC	-	rs531550505	byFrequency	TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr15:23086365_23086367delGCC	ENST00000337435.4	-	1	69_71	c.45_47delGGC	c.(43-48)gcggcc>gcc	p.15_16AA>A	NIPA1_ENST00000538684.1_5'Flank|NIPA1_ENST00000437912.2_Intron|NIPA1_ENST00000561183.1_Intron	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	15					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		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;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCCCTCCCCGgccgccgccgccg	0.818														310	0.061901	0.0666	0.0519	5008	,	,		2562	0.0139		0.1014	False		,,,				2504	0.0716					ENST00000337435.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15						c.(43-48)gcc>gc		non imprinted in Prader-Willi/Angelman syndrome 1																																				SO:0001651	inframe_deletion	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23086365_23086367delGCC	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.45_47delGGC	15.37:g.23086374_23086376delGCC	ENSP00000337452:p.Ala16del					NIPA1_ENST00000437912.2_Intron|NIPA1_ENST00000561183.1_Intron	p.AA15del	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	1	69_71	-		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)	15					B2RA76|Q5HYA9|Q7KZB0|Q86XW4	In_Frame_Del	DEL	ENST00000337435.4	37	c.45_47delGGC	CCDS10011.1																																																																																				0.818	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.F2113fs*9(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGTAGAAATGATAAATAATCGTCC	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		2	Unknown(1)|Deletion - Frameshift(1)	p.F2113fs*9(1)|p.?(1)	bone(1)|pancreas(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6337-6342)tcfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814303_76814306delATAA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6338_6341delTTAT	X.37:g.76814307_76814310delATAA	ENSP00000362441:p.Phe2113fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	p.FI2113fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6552_6555	-			2113			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6338_6341delTTAT	CCDS14434.1																																																																																				0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		29	3						29	3	---	---	---	---
