#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
LRRIQ1	84125	broad.mit.edu	37	12	85518292	85518292	+	Silent	SNP	A	A	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:85518292A>G	ENST00000393217.2	+	17	4063	c.4002A>G	c.(4000-4002)gaA>gaG	p.E1334E		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1334										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGCCTAGTGAAAAAATGTAAG	0.323																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4000-4002)gaA>gaG		leucine-rich repeats and IQ motif containing 1							75.0	88.0	84.0					12																	85518292		2201	4291	6492	SO:0001819	synonymous_variant	84125							g.chr12:85518292A>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4002A>G	12.37:g.85518292A>G							p.E1334E	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	17	4063	+			1334					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.4002A>G	CCDS41816.1																																																																																				0.323	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		50	93	0	0	0	1	0	50	93				
MGAT5	4249	broad.mit.edu	37	2	135180442	135180442	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:135180442C>G	ENST00000409645.1	+	14	1998	c.1746C>G	c.(1744-1746)aaC>aaG	p.N582K	MGAT5_ENST00000281923.2_Missense_Mutation_p.N582K			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	582					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTGACCTCAACAATCAGGAGG	0.448																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(1744-1746)aaC>aaG		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							138.0	139.0	139.0					2																	135180442		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135180442C>G	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1746C>G	2.37:g.135180442C>G	ENSP00000386377:p.Asn582Lys					MGAT5_ENST00000281923.2_Missense_Mutation_p.N582K	p.N582K			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	14	1998	+			582					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.1746C>G	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022006	0.35701	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.91	2.67	0.31697	.	0.557613	0.23444	N	0.048104	T	0.45538	0.1347	M	0.69358	2.11	0.09310	N	1	B	0.19200	0.034	B	0.18561	0.022	T	0.48317	-0.9046	9	0.66056	D	0.02	-1.8187	11.5078	0.50476	0.0:0.6783:0.0:0.3217	.	582	Q09328	MGT5A_HUMAN	K	582	.	ENSP00000281923:N582K	N	+	3	2	MGAT5	134896912	0.588000	0.26799	0.836000	0.33094	0.995000	0.86356	0.001000	0.13038	0.817000	0.34445	0.655000	0.94253	AAC		0.448	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		16	76	0	0	0	1	0	16	76				
POLR2C	5432	broad.mit.edu	37	16	57504925	57504925	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:57504925C>G	ENST00000219252.5	+	9	1060	c.722C>G	c.(721-723)cCt>cGt	p.P241R		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	241					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						TCTCTGCGTCCTGAAACCATT	0.512																																						ENST00000219252.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(721-723)cCt>cGt		polymerase (RNA) II (DNA directed) polypeptide C, 33kDa							129.0	118.0	122.0					16																	57504925		2198	4300	6498	SO:0001583	missense	5432				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr16:57504925C>G		CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.722C>G	16.37:g.57504925C>G	ENSP00000219252:p.Pro241Arg						p.P241R	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN			9	1060	+			241					O15161	Missense_Mutation	SNP	ENST00000219252.5	37	c.722C>G	CCDS10782.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588817	0.86851	.	.	ENSG00000102978	ENST00000219252	D	0.89552	-2.53	5.59	5.59	0.84812	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.000000	0.85682	D	0.000000	D	0.96855	0.8973	H	0.97829	4.085	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.98177	1.0455	10	0.87932	D	0	.	18.5726	0.91142	0.0:1.0:0.0:0.0	.	241	P19387	RPB3_HUMAN	R	241	ENSP00000219252:P241R	ENSP00000219252:P241R	P	+	2	0	POLR2C	56062426	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	7.397000	0.79903	2.619000	0.88677	0.655000	0.94253	CCT		0.512	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3	NM_032940		6	108	0	0	0	1	0	6	108				
SOS2	6655	broad.mit.edu	37	14	50655245	50655245	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr14:50655245A>C	ENST00000216373.5	-	5	958	c.684T>G	c.(682-684)ttT>ttG	p.F228L	SOS2_ENST00000543680.1_Missense_Mutation_p.F228L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	228	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TATCAGAAAGAAAGGCTTCTC	0.338																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(682-684)ttT>ttG		son of sevenless homolog 2 (Drosophila)							73.0	72.0	73.0					14																	50655245		2201	4300	6501	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50655245A>C	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.684T>G	14.37:g.50655245A>C	ENSP00000216373:p.Phe228Leu					SOS2_ENST00000543680.1_Missense_Mutation_p.F228L	p.F228L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			5	958	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		228			DH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.684T>G	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260287	0.23051	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.56444	0.46;0.46	5.82	0.0139	0.14098	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	L	0.42245	1.32	0.48571	D	0.999673	B;B	0.22683	0.024;0.073	B;B	0.19148	0.023;0.024	T	0.22800	-1.0206	10	0.11794	T	0.64	.	13.5051	0.61479	0.3752:0.0:0.6248:0.0	.	228;228	B7ZKT6;Q07890	.;SOS2_HUMAN	L	228	ENSP00000216373:F228L;ENSP00000445328:F228L	ENSP00000216373:F228L	F	-	3	2	SOS2	49724995	0.997000	0.39634	0.989000	0.46669	0.985000	0.73830	0.465000	0.22004	-0.314000	0.08716	-0.256000	0.11100	TTT		0.338	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			11	56	0	0	0	1	0	11	56				
KSR2	283455	broad.mit.edu	37	12	118199044	118199044	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:118199044C>T	ENST00000339824.5	-	4	1485	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	KSR2_ENST00000425217.1_Missense_Mutation_p.R224Q			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	253	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCCGCTGCCGGGGCGATGG	0.716																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(670-672)cGg>cAg		kinase suppressor of ras 2							25.0	34.0	31.0					12																	118199044		1801	3971	5772	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199044C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.758G>A	12.37:g.118199044C>T	ENSP00000339952:p.Arg253Gln					KSR2_ENST00000339824.5_Missense_Mutation_p.R253Q	p.R224Q	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	725	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		253			Pro-rich.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.671G>A		.	.	.	.	.	.	.	.	.	.	C	23.1	4.375718	0.82682	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.57436	0.4;0.4	5.15	4.26	0.50523	.	0.293163	0.33161	N	0.005214	T	0.61924	0.2386	L	0.59436	1.845	0.35251	D	0.778709	D	0.64830	0.994	P	0.61201	0.885	T	0.65940	-0.6046	10	0.14252	T	0.57	.	13.2657	0.60133	0.0:0.9221:0.0:0.0779	.	253	Q6VAB6	KSR2_HUMAN	Q	224;253	ENSP00000389715:R224Q;ENSP00000339952:R253Q	ENSP00000339952:R253Q	R	-	2	0	KSR2	116683427	1.000000	0.71417	0.957000	0.39632	0.867000	0.49689	7.363000	0.79516	1.158000	0.42547	0.484000	0.47621	CGG		0.716	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		83	102	0	0	0	1	0	83	102				
TTN	7273	broad.mit.edu	37	2	179413638	179413638	+	Silent	SNP	G	G	A	rs140576051	byFrequency	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:179413638G>A	ENST00000591111.1	-	289	88016	c.87792C>T	c.(87790-87792)ggC>ggT	p.G29264G	TTN_ENST00000359218.5_Silent_p.G21965G|TTN_ENST00000460472.2_Silent_p.G21840G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.G28337G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.G22032G|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.G30905G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29264	Fibronectin type-III 113. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGCTGTCGCCTTTTCCAG	0.423													G|||	3	0.000599042	0.0	0.0	5008	,	,		23445	0.003		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(92713-92715)ggC>ggT		titin							124.0	119.0	121.0					2																	179413638		1983	4167	6150	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413638G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87792C>T	2.37:g.179413638G>A						TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.G21840G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.G29264G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.G21965G|TTN_ENST00000342992.6_Silent_p.G28337G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Silent_p.G22032G|TTN-AS1_ENST00000456053.1_RNA	p.G30905G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	92939	-			29264			Fibronectin type-III 125.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.92715C>T																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	77	0	0	0	1	0	21	77				
ITIH6	347365	broad.mit.edu	37	X	54784174	54784174	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:54784174C>T	ENST00000218436.6	-	8	2362	c.2333G>A	c.(2332-2334)tGt>tAt	p.C778Y		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	778	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TGGAGTAACACATTTCACAGT	0.537																																						ENST00000218436.6																			0											c.(2332-2334)tGt>tAt		inter-alpha-trypsin inhibitor heavy chain family, member 6							121.0	106.0	111.0					X																	54784174		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784174C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2333G>A	X.37:g.54784174C>T	ENSP00000218436:p.Cys778Tyr						p.C778Y	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2362	-			778			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2333G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.269810	0.00021	.	.	ENSG00000102313	ENST00000218436	T	0.02103	4.45	3.07	-3.27	0.05048	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46190	-0.9209	9	0.42905	T	0.14	.	4.3273	0.11046	0.0:0.3045:0.3299:0.3656	.	778	Q6UXX5	ITH5L_HUMAN	Y	778	ENSP00000218436:C778Y	ENSP00000218436:C778Y	C	-	2	0	ITIH5L	54800899	0.006000	0.16342	0.009000	0.14445	0.109000	0.19521	-0.263000	0.08670	-0.532000	0.06332	-0.492000	0.04666	TGT		0.537	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		29	113	0	0	0	1	0	29	113				
DNAJC10	54431	broad.mit.edu	37	2	183593668	183593668	+	Nonsense_Mutation	SNP	C	C	T	rs534541117		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:183593668C>T	ENST00000264065.7	+	7	995	c.580C>T	c.(580-582)Cga>Tga	p.R194*	DNAJC10_ENST00000537515.1_Nonsense_Mutation_p.R194*	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	194	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AATGCTTTGCCGAATGAAAGG	0.378																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(580-582)Cga>Tga		DnaJ (Hsp40) homolog, subfamily C, member 10							164.0	158.0	160.0					2																	183593668		2203	4300	6503	SO:0001587	stop_gained	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183593668C>T		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.580C>T	2.37:g.183593668C>T	ENSP00000264065:p.Arg194*					DNAJC10_ENST00000537515.1_Nonsense_Mutation_p.R194*	p.R194*	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		7	995	+			194			Thioredoxin 1.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Nonsense_Mutation	SNP	ENST00000264065.7	37	c.580C>T	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	41	8.583509	0.98872	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537515	.	.	.	6.17	5.3	0.74995	.	0.137792	0.47852	D	0.000216	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2452	0.43336	0.1354:0.7974:0.0:0.0672	.	.	.	.	X	194	.	ENSP00000264065:R194X	R	+	1	2	DNAJC10	183301913	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.364000	0.59479	1.633000	0.50488	0.655000	0.94253	CGA		0.378	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		17	94	0	0	0	1	0	17	94				
STK32B	55351	broad.mit.edu	37	4	5461892	5461892	+	Nonsense_Mutation	SNP	C	C	G	rs372888179		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr4:5461892C>G	ENST00000282908.5	+	9	1268	c.846C>G	c.(844-846)taC>taG	p.Y282*	STK32B_ENST00000512636.1_Nonsense_Mutation_p.Y205*|STK32B_ENST00000510398.1_Nonsense_Mutation_p.Y235*|RN7SKP275_ENST00000364626.1_RNA|STK32B_ENST00000508728.1_3'UTR	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GCGTGCCCTACTTGGCCGACA	0.562											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(844-846)taC>taG		serine/threonine kinase 32B							154.0	123.0	134.0					4																	5461892		2203	4300	6503	SO:0001587	stop_gained	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5461892C>G	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.846C>G	4.37:g.5461892C>G	ENSP00000282908:p.Tyr282*		OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	626	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Nonsense_Mutation_p.Y205*|STK32B_ENST00000510398.1_Nonsense_Mutation_p.Y235*	p.Y282*	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			9	1268	+			282			Protein kinase.			Nonsense_Mutation	SNP	ENST00000282908.5	37	c.846C>G	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	c	38	6.842467	0.97877	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	.	.	.	4.65	4.65	0.58169	.	0.000000	0.39146	U	0.001456	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5001	0.84255	0.0:1.0:0.0:0.0	.	.	.	.	X	282;205;235	.	ENSP00000282908:Y282X	Y	+	3	2	STK32B	5512793	0.545000	0.26449	1.000000	0.80357	0.902000	0.53008	1.071000	0.30666	2.306000	0.77630	0.550000	0.68814	TAC		0.562	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		9	120	0	0	0	1	0	9	120				
MPP7	143098	broad.mit.edu	37	10	28414006	28414006	+	Silent	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr10:28414006C>T	ENST00000375732.1	-	7	721	c.462G>A	c.(460-462)aaG>aaA	p.K154K	MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Silent_p.K154K|MPP7_ENST00000540098.1_Silent_p.K154K|MPP7_ENST00000445954.2_Silent_p.K29K|MPP7_ENST00000337532.5_Silent_p.K154K			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	154	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTTCATCCTTCTTAATGGTAG	0.403																																						ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(460-462)aaG>aaA		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							161.0	136.0	144.0					10																	28414006		2203	4300	6503	SO:0001819	synonymous_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28414006C>T	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.462G>A	10.37:g.28414006C>T						MPP7_ENST00000375732.1_Silent_p.K154K|MPP7_ENST00000445954.2_Silent_p.K29K|MPP7_ENST00000540098.1_Silent_p.K154K|MPP7_ENST00000375719.3_Silent_p.K154K|MPP7_ENST00000481244.1_5'UTR	p.K154K	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			8	738	-			154			PDZ.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	c.462G>A	CCDS7158.1																																																																																				0.403	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		7	114	0	0	0	1	0	7	114				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	25	0	0	0	1	0	3	25				
PPARGC1A	10891	broad.mit.edu	37	4	23815630	23815630	+	Silent	SNP	T	T	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr4:23815630T>C	ENST00000264867.2	-	8	1595	c.1476A>G	c.(1474-1476)gaA>gaG	p.E492E	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	492	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGGAGAATTGTTCATTACTGA	0.458																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(1474-1476)gaA>gaG		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							137.0	129.0	132.0					4																	23815630		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815630T>C	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1476A>G	4.37:g.23815630T>C						PPARGC1A_ENST00000509702.1_5'UTR	p.E492E	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1595	-		Breast(46;0.0503)	492					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.1476A>G	CCDS3429.1																																																																																				0.458	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		30	112	0	0	0	1	0	30	112				
TSC2	7249	broad.mit.edu	37	16	2122981	2122981	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:2122981A>C	ENST00000219476.3	+	21	2982	c.2352A>C	c.(2350-2352)aaA>aaC	p.K784N	TSC2_ENST00000568454.1_Missense_Mutation_p.K795N|TSC2_ENST00000382538.6_Missense_Mutation_p.K735N|TSC2_ENST00000401874.2_Missense_Mutation_p.K784N|TSC2_ENST00000353929.4_Missense_Mutation_p.K784N|TSC2_ENST00000350773.4_Missense_Mutation_p.K784N|TSC2_ENST00000439673.2_Missense_Mutation_p.K747N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	784					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACAAAACCAAACAGGTAGGAG	0.547			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(2350-2352)aaA>aaC		tuberous sclerosis 2							47.0	45.0	46.0					16																	2122981		2198	4300	6498	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2122981A>C	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2352A>C	16.37:g.2122981A>C	ENSP00000219476:p.Lys784Asn					TSC2_ENST00000350773.4_Missense_Mutation_p.K784N|TSC2_ENST00000353929.4_Missense_Mutation_p.K784N|TSC2_ENST00000568454.1_Missense_Mutation_p.K795N|TSC2_ENST00000382538.6_Missense_Mutation_p.K735N|TSC2_ENST00000439673.2_Missense_Mutation_p.K747N|TSC2_ENST00000401874.2_Missense_Mutation_p.K784N	p.K784N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			21	2982	+		Hepatocellular(780;0.0202)	784					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.2352A>C	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.830847	0.32329	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.61	-4.68	0.03309	Tuberin-type domain (1);	0.203143	0.51477	D	0.000087	D	0.84079	0.5393	L	0.47716	1.5	0.41402	D	0.987681	B;B;B;B;B;P	0.35493	0.101;0.083;0.083;0.161;0.083;0.505	B;B;B;B;B;B	0.43754	0.43;0.24;0.171;0.304;0.248;0.27	T	0.74833	-0.3530	10	0.27082	T	0.32	-9.6132	17.416	0.87500	0.3729:0.0:0.6271:0.0	.	735;747;784;784;784;784	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	N	784;784;784;747;735;784	ENSP00000219476:K784N;ENSP00000384468:K784N;ENSP00000248099:K784N;ENSP00000399232:K747N;ENSP00000371978:K735N;ENSP00000344383:K784N	ENSP00000219476:K784N	K	+	3	2	TSC2	2062982	0.990000	0.36364	0.015000	0.15790	0.684000	0.39900	0.486000	0.22340	-1.050000	0.03230	-0.376000	0.06991	AAA		0.547	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		12	45	0	0	0	1	0	12	45				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"""		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(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	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	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.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	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_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	p.R248Q	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)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	66	0	0	0	1	0	12	66				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	31	0	0	0	1	0	3	31				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	73	0	0	0	1	0	21	73				
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	G	T	rs137852790|rs137852791|rs587782705		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:7578475G>T	ENST00000269305.4	-	5	644	c.455C>A	c.(454-456)cCg>cAg	p.P152Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P152Q|TP53_ENST00000413465.2_Missense_Mutation_p.P152Q|TP53_ENST00000455263.2_Missense_Mutation_p.P152Q|TP53_ENST00000445888.2_Missense_Mutation_p.P152Q|TP53_ENST00000420246.2_Missense_Mutation_p.P152Q	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	152	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9450901}.|P -> T (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.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(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)	GGTGCCGGGCGGGGGTGTGGA	0.612		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"""		132	Substitution - Missense(84)|Deletion - Frameshift(25)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)	large_intestine(22)|central_nervous_system(18)|upper_aerodigestive_tract(15)|oesophagus(10)|skin(9)|haematopoietic_and_lymphoid_tissue(8)|ovary(8)|prostate(8)|urinary_tract(7)|stomach(6)|bone(5)|breast(4)|lung(3)|liver(3)|vulva(2)|soft_tissue(2)|thyroid(1)|adrenal_gland(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	GRCh37	CM941327	TP53	M		c.(454-456)cCg>cAg	Other conserved DNA damage response genes	tumor protein p53							51.0	52.0	52.0					17																	7578475		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.chr17:7578475G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.455C>A	17.37:g.7578475G>T	ENSP00000269305:p.Pro152Gln	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_ENST00000445888.2_Missense_Mutation_p.P152Q|TP53_ENST00000413465.2_Missense_Mutation_p.P152Q|TP53_ENST00000359597.4_Missense_Mutation_p.P152Q|TP53_ENST00000455263.2_Missense_Mutation_p.P152Q|TP53_ENST00000269305.4_Missense_Mutation_p.P152Q	p.P152Q	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)	5	587	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	152		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.455C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644906	0.67358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99885	-7.51;-7.51;-7.51;-7.51;-7.51;-7.51;-7.51;-7.51;-7.51	5.59	5.59	0.84812	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	0.99885	0.9945	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.997;0.995;0.995;0.999;0.998;0.994	D	0.96428	0.9317	10	0.87932	D	0	-5.4688	17.4784	0.87667	0.0:0.0:1.0:0.0	.	113;152;152;59;152;152;152	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	152;152;152;152;152;152;141;59;20;59;20;152	ENSP00000410739:P152Q;ENSP00000352610:P152Q;ENSP00000269305:P152Q;ENSP00000398846:P152Q;ENSP00000391127:P152Q;ENSP00000391478:P152Q;ENSP00000425104:P20Q;ENSP00000423862:P59Q;ENSP00000424104:P152Q	ENSP00000269305:P152Q	P	-	2	0	TP53	7519200	1.000000	0.71417	0.940000	0.37924	0.022000	0.10575	7.901000	0.87382	2.804000	0.96469	0.655000	0.94253	CCG		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	59	1	0	2.94398e-08	1	3.04728e-08	19	59				
LOC150776	150776	broad.mit.edu	37	2	132256505	132256505	+	RNA	SNP	A	A	C	rs3817572	byFrequency	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:132256505A>C	ENST00000438378.2	+	0	478					NR_026922.1																						TGATTAAAGTAATTGAGGATT	0.388													.|||	2568	0.51278	0.6256	0.5331	5008	,	,		20535	0.6845		0.3231	False		,,,				2504	0.364					ENST00000438378.2																			0																																																			0							g.chr2:132256505A>C																													2.37:g.132256505A>C								NR_026922.1						0	478	+									RNA	SNP	ENST00000438378.2	37																																																																																						0.388	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			4	73	0	0	0	1	0	4	73				
MYO7A	4647	broad.mit.edu	37	11	76877199	76877199	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr11:76877199T>A	ENST00000409709.3	+	15	2060	c.1788T>A	c.(1786-1788)gaT>gaA	p.D596E	MYO7A_ENST00000458637.2_Missense_Mutation_p.D596E|MYO7A_ENST00000409893.1_Missense_Mutation_p.D596E|MYO7A_ENST00000409619.2_Missense_Mutation_p.D585E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	596	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCAGGCCGATGTCGCCATGG	0.587																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1786-1788)gaT>gaA		myosin VIIA							64.0	64.0	64.0					11																	76877199		1987	4145	6132	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76877199T>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1788T>A	11.37:g.76877199T>A	ENSP00000386331:p.Asp596Glu					MYO7A_ENST00000409619.2_Missense_Mutation_p.D585E|MYO7A_ENST00000458637.2_Missense_Mutation_p.D596E|MYO7A_ENST00000409893.1_Missense_Mutation_p.D596E	p.D596E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			15	2060	+			596			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.1788T>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500269	0.44455	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.53	-6.56	0.01848	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	N	0.13371	0.34	0.53688	D	0.999977	P;B;P	0.50710	0.938;0.077;0.867	P;B;P	0.53224	0.669;0.035;0.721	T	0.78974	-0.1992	10	0.13853	T	0.58	.	18.7627	0.91858	0.0:0.1854:0.0:0.8146	.	596;596;596	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	E	596;596;596;585;595;595;472;595	ENSP00000386331:D596E;ENSP00000386689:D596E;ENSP00000392185:D596E;ENSP00000386635:D585E	ENSP00000345075:D472E	D	+	3	2	MYO7A	76554847	0.000000	0.05858	0.056000	0.19401	0.900000	0.52787	-1.906000	0.01590	-1.693000	0.01427	-0.801000	0.03215	GAT		0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		12	38	0	0	0	1	0	12	38				
GPRASP2	114928	broad.mit.edu	37	X	101970909	101970909	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:101970909A>G	ENST00000535209.1	+	4	1943	c.1112A>G	c.(1111-1113)gAc>gGc	p.D371G	GPRASP2_ENST00000543253.1_Missense_Mutation_p.D371G|GPRASP2_ENST00000332262.5_Missense_Mutation_p.D371G			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	371						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AAAGATGTTGACAGTGATAGG	0.483																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1111-1113)gAc>gGc		G protein-coupled receptor associated sorting protein 2							79.0	74.0	76.0					X																	101970909		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101970909A>G	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1112A>G	X.37:g.101970909A>G	ENSP00000437394:p.Asp371Gly					GPRASP2_ENST00000332262.5_Missense_Mutation_p.D371G|GPRASP2_ENST00000535209.1_Missense_Mutation_p.D371G	p.D371G	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	2031	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.1112A>G	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	A	0.251	-1.006529	0.02112	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07216	3.21;3.21;3.21	4.23	4.23	0.50019	.	0.600729	0.14887	N	0.292610	T	0.02970	0.0088	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40194	-0.9576	10	0.28530	T	0.3	.	8.7521	0.34622	1.0:0.0:0.0:0.0	.	371	Q96D09	GASP2_HUMAN	G	371	ENSP00000437872:D371G;ENSP00000437394:D371G;ENSP00000339057:D371G	ENSP00000339057:D371G	D	+	2	0	GPRASP2	101857565	0.959000	0.32827	0.182000	0.23118	0.071000	0.16799	2.190000	0.42630	1.887000	0.54652	0.486000	0.48141	GAC		0.483	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		14	85	0	0	0	1	0	14	85				
CFAP46	54777	broad.mit.edu	37	10	134752146	134752146	+	Silent	SNP	G	G	A	rs181449154		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr10:134752146G>A	ENST00000368586.5	-	5	583	c.483C>T	c.(481-483)aaC>aaT	p.N161N	TTC40_ENST00000368582.2_Silent_p.N161N|TTC40_ENST00000368585.3_Silent_p.N161N	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GACTCAGCACGTTTATGATTT	0.577													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20744	0.0		0.0	False		,,,				2504	0.0					ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(481-483)aaC>aaT		tetratricopeptide repeat domain 40							177.0	147.0	157.0					10																	134752146		2203	4300	6503	SO:0001819	synonymous_variant	54777							g.chr10:134752146G>A																												ENST00000368586.5:c.483C>T	10.37:g.134752146G>A						TTC40_ENST00000368582.2_Silent_p.N161N|TTC40_ENST00000368585.3_Silent_p.N161N	p.N161N	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			5	583	-			0						Silent	SNP	ENST00000368586.5	37	c.483C>T	CCDS58101.1																																																																																				0.577	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			33	71	0	0	0	1	0	33	71				
ZBTB20	26137	broad.mit.edu	37	3	114070216	114070216	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr3:114070216G>A	ENST00000474710.1	-	4	887	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	ZBTB20_ENST00000464560.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000393785.2_Nonsense_Mutation_p.Q164*|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000357258.3_Nonsense_Mutation_p.Q164*|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000462705.1_Nonsense_Mutation_p.Q164*|ZBTB20-AS1_ENST00000467304.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	237						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACGCTGTGCTGTGGGTGGCTC	0.657																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(490-492)Cag>Tag		zinc finger and BTB domain containing 20							89.0	79.0	83.0					3																	114070216		2203	4300	6503	SO:0001587	stop_gained	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070216G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.709C>T	3.37:g.114070216G>A	ENSP00000419153:p.Gln237*					ZBTB20_ENST00000464560.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000474710.1_Nonsense_Mutation_p.Q237*|ZBTB20_ENST00000393785.2_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000481632.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000357258.3_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000471418.1_Nonsense_Mutation_p.Q164*	p.Q164*	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1311	-			237			BTB.		Q63HP6|Q8N6R5|Q9Y410	Nonsense_Mutation	SNP	ENST00000474710.1	37	c.490C>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	39	7.502679	0.98322	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6361	0.95733	0.0:0.0:1.0:0.0	.	.	.	.	X	164;164;164;164;237;164;164	.	ENSP00000349803:Q164X	Q	-	1	0	ZBTB20	115552906	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.122000	0.94380	2.878000	0.98634	0.650000	0.86243	CAG		0.657	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		33	85	0	0	0	1	0	33	85				
KDM2B	84678	broad.mit.edu	37	12	122012481	122012481	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:122012481A>C	ENST00000377071.4	-	4	440	c.368T>G	c.(367-369)tTc>tGc	p.F123C	KDM2B_ENST00000538046.2_Missense_Mutation_p.F123C|KDM2B_ENST00000377069.4_Missense_Mutation_p.F92C|KDM2B_ENST00000536437.1_Missense_Mutation_p.F6C	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	123					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGGACTGTGAAATCAGGGTC	0.567																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(274-276)tTc>tGc		lysine (K)-specific demethylase 2B							84.0	85.0	85.0					12																	122012481		1984	4165	6149	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:122012481A>C	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.368T>G	12.37:g.122012481A>C	ENSP00000366271:p.Phe123Cys					KDM2B_ENST00000536437.1_Missense_Mutation_p.F6C|KDM2B_ENST00000377071.4_Missense_Mutation_p.F123C|KDM2B_ENST00000538046.2_Missense_Mutation_p.F123C	p.F92C	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			4	681	-			123					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.275T>G	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386565	0.82902	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000261824;ENST00000446152;ENST00000539394;ENST00000539371	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	5.36	5.36	0.76844	.	0.196787	0.36134	N	0.002774	D	0.89220	0.6653	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.998	D	0.91814	0.5462	10	0.87932	D	0	-30.1957	15.5185	0.75846	1.0:0.0:0.0:0.0	.	123;6;123;92	E7EML5;Q1RLM7;Q8NHM5;A8MRS1	.;.;KDM2B_HUMAN;.	C	123;92;123;6;123;123;86;6;92	ENSP00000366269:F92C;ENSP00000366271:F123C;ENSP00000445196:F6C;ENSP00000398279:F86C;ENSP00000440373:F6C	ENSP00000261824:F123C	F	-	2	0	KDM2B	120496864	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.262000	0.89862	2.246000	0.74042	0.533000	0.62120	TTC		0.567	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		31	81	0	0	0	1	0	31	81				
TMEM104	54868	broad.mit.edu	37	17	72832811	72832811	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:72832811C>G	ENST00000335464.5	+	10	1638	c.1476C>G	c.(1474-1476)agC>agG	p.S492R	TMEM104_ENST00000582330.1_Missense_Mutation_p.S492R|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	492						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TCATCCTCAGCGAGACCAAGC	0.602																																						ENST00000335464.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19						c.(1474-1476)agC>agG		transmembrane protein 104							44.0	41.0	42.0					17																	72832811		2202	4300	6502	SO:0001583	missense	54868					integral to membrane		g.chr17:72832811C>G	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1476C>G	17.37:g.72832811C>G	ENSP00000334849:p.Ser492Arg					TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.S492R|TMEM104_ENST00000417024.2_Intron	p.S492R	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN			10	1638	+	all_lung(278;0.23)		492					Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	c.1476C>G	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290222	0.40494	.	.	ENSG00000109066	ENST00000335464	T	0.31769	1.48	5.17	-1.94	0.07571	.	0.186671	0.56097	D	0.000032	T	0.21590	0.0520	L	0.53249	1.67	0.33191	D	0.550854	B	0.29988	0.264	B	0.27608	0.081	T	0.10042	-1.0647	10	0.36615	T	0.2	-12.9809	6.4218	0.21748	0.0:0.2467:0.2364:0.517	.	492	Q8NE00	TM104_HUMAN	R	492	ENSP00000334849:S492R	ENSP00000334849:S492R	S	+	3	2	TMEM104	70344406	0.000000	0.05858	0.997000	0.53966	0.906000	0.53458	-2.609000	0.00886	-0.200000	0.10300	0.462000	0.41574	AGC		0.602	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		14	41	0	0	0	1	0	14	41				
DERL3	91319	broad.mit.edu	37	22	24179853	24179853	+	Silent	SNP	G	G	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr22:24179853G>A	ENST00000318109.7	-	5	532	c.516C>T	c.(514-516)gaC>gaT	p.D172D	DERL3_ENST00000476077.1_Silent_p.D172D|DERL3_ENST00000404056.1_Intron|DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000406855.3_Silent_p.D172D			Q96Q80	DERL3_HUMAN	derlin 3	172					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						CACCCAGCAGGTCCACGAGGA	0.642																																						ENST00000406855.3																			0				ovary(1)|prostate(1)|skin(1)	3						c.(514-516)gaC>gaT		derlin 3							42.0	41.0	41.0					22																	24179853		2203	4300	6503	SO:0001819	synonymous_variant	91319				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding	g.chr22:24179853G>A	AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"""chromosome 22 open reading frame 14"", ""Der1-like domain family, member 3"""	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.516C>T	22.37:g.24179853G>A						DERL3_ENST00000404056.1_Intron|DERL3_ENST00000318109.7_Silent_p.D172D|DERL3_ENST00000476077.1_Silent_p.D172D	p.D172D	NM_001002862.2|NM_001135751.1|NM_198440.3	NP_001002862.1|NP_001129223.1|NP_940842.2	Q96Q80	DERL3_HUMAN			5	534	-			172					F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Silent	SNP	ENST00000318109.7	37	c.516C>T	CCDS33615.1																																																																																				0.642	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1	NM_198440		8	30	0	0	0	1	0	8	30				
RAB33A	9363	broad.mit.edu	37	X	129318702	129318702	+	Silent	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:129318702C>G	ENST00000257017.4	+	2	1116	c.702C>G	c.(700-702)tcC>tcG	p.S234S		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	234					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GTAAAACTTCCTGTCCTTGTT	0.438																																						ENST00000257017.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(700-702)tcC>tcG		RAB33A, member RAS oncogene family							41.0	38.0	39.0					X																	129318702		2203	4300	6503	SO:0001819	synonymous_variant	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129318702C>G	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.702C>G	X.37:g.129318702C>G							p.S234S	NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN			2	1116	+			234					Q5JUZ6|Q92465	Silent	SNP	ENST00000257017.4	37	c.702C>G	CCDS14621.1																																																																																				0.438	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		5	55	0	0	0	1	0	5	55				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			2	30	0	0	0	1	0	2	30				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		5	72	0	0	0	1	0	5	72				
ANAPC5	51433	broad.mit.edu	37	12	121790075	121790075	+	Silent	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:121790075C>G	ENST00000261819.3	-	1	190	c.69G>C	c.(67-69)gtG>gtC	p.V23V	ANAPC5_ENST00000541887.1_Silent_p.V23V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	23					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGATGCCGAACACATTGGCGT	0.632																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(67-69)gtG>gtC		anaphase promoting complex subunit 5							85.0	74.0	78.0					12																	121790075		2203	4300	6503	SO:0001819	synonymous_variant	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121790075C>G	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.69G>C	12.37:g.121790075C>G						ANAPC5_ENST00000541887.1_Silent_p.V23V	p.V23V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			1	190	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		23					E9PFB2|Q8N4H7|Q9BQD4	Silent	SNP	ENST00000261819.3	37	c.69G>C	CCDS9220.1																																																																																				0.632	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			17	84	0	0	0	1	0	17	84				
SLC44A5	204962	broad.mit.edu	37	1	75685524	75685524	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:75685524A>G	ENST00000370855.5	-	15	1252	c.1139T>C	c.(1138-1140)tTg>tCg	p.L380S	SLC44A5_ENST00000370859.3_Missense_Mutation_p.L380S|SLC44A5_ENST00000535611.1_Missense_Mutation_p.L250S	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	380					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GATTGAGAGCAAAATGAAAGT	0.368																																						ENST00000370855.5																			0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1138-1140)tTg>tCg		solute carrier family 44, member 5							112.0	104.0	107.0					1																	75685524		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75685524A>G	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1139T>C	1.37:g.75685524A>G	ENSP00000359892:p.Leu380Ser					SLC44A5_ENST00000535611.1_Missense_Mutation_p.L250S|SLC44A5_ENST00000370859.3_Missense_Mutation_p.L380S	p.L380S	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN			15	1252	-			380					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1139T>C	CCDS667.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148623	0.78001	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.26373	1.74;1.74;1.74	5.77	5.77	0.91146	.	0.268275	0.35646	N	0.003071	T	0.39253	0.1071	L	0.60957	1.885	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.998;0.991;0.999;0.999;0.995	D;D;D;D;D	0.81914	0.993;0.984;0.995;0.991;0.972	T	0.22487	-1.0215	10	0.56958	D	0.05	-0.5484	16.086	0.81049	1.0:0.0:0.0:0.0	.	374;419;380;380;419	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	S	380;419;380;250;373	ENSP00000359896:L380S;ENSP00000359892:L380S;ENSP00000443090:L250S	ENSP00000359892:L380S	L	-	2	0	SLC44A5	75458112	1.000000	0.71417	0.274000	0.24659	0.799000	0.45148	9.262000	0.95591	2.198000	0.70561	0.533000	0.62120	TTG		0.368	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		7	35	0	0	0	1	0	7	35				
MAGEC1	9947	broad.mit.edu	37	X	140995062	140995062	+	Silent	SNP	T	T	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:140995062T>C	ENST00000285879.4	+	4	2158	c.1872T>C	c.(1870-1872)tcT>tcC	p.S624S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	624										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGTCTTCTCTCCAGAGCC	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1870-1872)tcT>tcC		melanoma antigen family C, 1							175.0	187.0	183.0					X																	140995062		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995062T>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1872T>C	X.37:g.140995062T>C		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.S624S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2158	+	Acute lymphoblastic leukemia(192;6.56e-05)		624					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1872T>C	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		142	401	0	0	0	1	0	142	401				
CEP128	145508	broad.mit.edu	37	14	81209521	81209521	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr14:81209521G>C	ENST00000555265.1	-	19	3079	c.2704C>G	c.(2704-2706)Ctc>Gtc	p.L902V	CEP128_ENST00000281129.3_Missense_Mutation_p.L902V			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	902						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AAATTCCTGAGTTGTTGTCTG	0.418																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2704-2706)Ctc>Gtc		centrosomal protein 128kDa							103.0	90.0	95.0					14																	81209521		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81209521G>C	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2704C>G	14.37:g.81209521G>C	ENSP00000451162:p.Leu902Val					CEP128_ENST00000281129.3_Missense_Mutation_p.L902V	p.L902V			Q6ZU80	CE128_HUMAN			19	3079	-			902					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.2704C>G	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277001	0.23307	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000554728	T;T	0.52526	0.66;0.66	5.34	4.45	0.53987	.	0.192365	0.34750	N	0.003710	T	0.58566	0.2131	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.56335	-0.7996	10	0.37606	T	0.19	.	10.5839	0.45271	0.073:0.1351:0.7919:0.0	.	902	Q6ZU80	CE128_HUMAN	V	902;902;902;103	ENSP00000281129:L902V;ENSP00000451162:L902V	ENSP00000281129:L902V	L	-	1	0	CEP128	80279274	0.994000	0.37717	0.098000	0.21074	0.024000	0.10985	1.928000	0.40104	1.403000	0.46800	-0.218000	0.12543	CTC		0.418	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		35	53	0	0	0	1	0	35	53				
DRC7	84229	broad.mit.edu	37	16	57741426	57741426	+	Missense_Mutation	SNP	G	G	A	rs114224823	byFrequency	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:57741426G>A	ENST00000360716.3	+	8	1134	c.913G>A	c.(913-915)Gtc>Atc	p.V305I	CCDC135_ENST00000394337.4_Missense_Mutation_p.V305I|CCDC135_ENST00000336825.8_Missense_Mutation_p.V240I			Q8IY82	CC135_HUMAN		305					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCACTCCTGGGTCCTTGTGCT	0.592													g|||	17	0.00339457	0.0129	0.0	5008	,	,		20520	0.0		0.0	False		,,,				2504	0.0					ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(913-915)Gtc>Atc		coiled-coil domain containing 135		G	ILE/VAL	50,4346		1,48,2149	64.0	62.0	63.0		913	5.0	1.0	16	dbSNP_132	63	0,8600		0,0,4300	yes	missense	CCDC135	NM_032269.5	29	1,48,6449	AA,AG,GG		0.0,1.1374,0.3847	probably-damaging	305/875	57741426	50,12946	2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57741426G>A																												ENST00000360716.3:c.913G>A	16.37:g.57741426G>A	ENSP00000353942:p.Val305Ile					CCDC135_ENST00000394337.4_Missense_Mutation_p.V305I|CCDC135_ENST00000336825.8_Missense_Mutation_p.V240I	p.V305I			Q8IY82	CC135_HUMAN			8	1134	+			305					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.913G>A	CCDS10787.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	.	27.2	4.806534	0.90623	0.011374	0.0	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.75477	1.65;-0.94;1.65	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.81019	0.4736	M	0.72624	2.21	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.929	T	0.82289	-0.0531	10	0.36615	T	0.2	-38.9632	17.3448	0.87307	0.0:0.0:1.0:0.0	.	240;305	Q8IY82-2;Q8IY82	.;CC135_HUMAN	I	305;240;305	ENSP00000377869:V305I;ENSP00000338938:V240I;ENSP00000353942:V305I	ENSP00000338938:V240I	V	+	1	0	CCDC135	56298927	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.348000	0.97062	2.332000	0.79248	0.637000	0.83480	GTC		0.592	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			4	64	0	0	0	1	0	4	64				
ST6GALNAC3	256435	broad.mit.edu	37	1	77093225	77093225	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:77093225A>T	ENST00000328299.3	+	4	860	c.712A>T	c.(712-714)Ata>Tta	p.I238L		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	238					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CTACGGGATGATAAATGACAC	0.413																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(712-714)Ata>Tta		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							165.0	158.0	160.0					1																	77093225		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77093225A>T		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.712A>T	1.37:g.77093225A>T	ENSP00000329214:p.Ile238Leu						p.I238L	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN			4	860	+			238					Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.712A>T	CCDS672.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.972924	0.74246	.	.	ENSG00000184005	ENST00000328299;ENST00000394993	T	0.29397	1.57	5.42	5.42	0.78866	.	0.050423	0.85682	D	0.000000	T	0.27489	0.0675	M	0.73962	2.25	0.54753	D	0.99998	P	0.38745	0.645	B	0.43445	0.42	T	0.05099	-1.0906	10	0.25751	T	0.34	-10.4458	14.3437	0.66646	1.0:0.0:0.0:0.0	.	238	Q8NDV1	SIA7C_HUMAN	L	238;237	ENSP00000329214:I238L	ENSP00000329214:I238L	I	+	1	0	ST6GALNAC3	76865813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.099000	0.76981	2.193000	0.70182	0.528000	0.53228	ATA		0.413	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		36	148	0	0	0	1	0	36	148				
OLFML2B	25903	broad.mit.edu	37	1	161967933	161967933	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:161967933C>T	ENST00000294794.3	-	6	1579	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A387T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	386					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCATGGTTGGCGATGCTGGGA	0.612																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1156-1158)Gcc>Acc		olfactomedin-like 2B							156.0	165.0	162.0					1																	161967933		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161967933C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1156G>A	1.37:g.161967933C>T	ENSP00000294794:p.Ala386Thr					OLFML2B_ENST00000367940.2_Missense_Mutation_p.A387T	p.A386T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1579	-	all_hematologic(112;0.156)		386					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1156G>A	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	9.961	1.222686	0.22457	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86297	-2.1;-2.1	4.39	-1.98	0.07480	.	.	.	.	.	T	0.39911	0.1096	N	0.08118	0	0.31043	N	0.716135	B;B	0.33494	0.019;0.414	B;B	0.20184	0.003;0.028	T	0.32877	-0.9890	8	0.15066	T	0.55	.	2.03	0.03527	0.113:0.1517:0.3609:0.3744	.	387;386	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	T	386;387	ENSP00000294794:A386T;ENSP00000356917:A387T	ENSP00000294794:A386T	A	-	1	0	OLFML2B	160234557	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.148000	0.10219	-0.558000	0.06118	0.462000	0.41574	GCC		0.612	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		46	157	0	0	0	1	0	46	157				
ACSM2A	123876	broad.mit.edu	37	16	20492162	20492162	+	Silent	SNP	G	G	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:20492162G>A	ENST00000573854.1	+	12	1542	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S	ACSM2A_ENST00000219054.6_Silent_p.S476S|ACSM2A_ENST00000575690.1_Silent_p.S476S|ACSM2A_ENST00000396104.2_Silent_p.S476S|ACSM2A_ENST00000417235.2_Silent_p.S397S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Silent_p.S248S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	476					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGGACCCTCGGAGGTAGAGA	0.567																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1426-1428)tcG>tcA		acyl-CoA synthetase medium-chain family member 2A							105.0	94.0	98.0					16																	20492162		2203	4299	6502	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20492162G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1428G>A	16.37:g.20492162G>A						ACSM2A_ENST00000396104.2_Silent_p.S476S|ACSM2A_ENST00000417235.2_Silent_p.S397S|ACSM2A_ENST00000575690.1_Silent_p.S476S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Silent_p.S476S|ACSM2A_ENST00000536134.1_Silent_p.S248S	p.S476S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			12	1542	+			476					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.1428G>A	CCDS32401.1																																																																																				0.567	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		23	95	0	0	0	1	0	23	95				
FAM65A	79567	broad.mit.edu	37	16	67578714	67578714	+	Silent	SNP	G	G	A	rs146173403		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:67578714G>A	ENST00000379312.3	+	16	2983	c.2862G>A	c.(2860-2862)ccG>ccA	p.P954P	FAM65A_ENST00000540839.3_Silent_p.P969P|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Silent_p.P964P|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Silent_p.P950P|FAM65A_ENST00000422602.2_Silent_p.P970P	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	954						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGGAGATCCCGGCCAGCTCTG	0.652																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2905-2907)ccG>ccA		family with sequence similarity 65, member A		G	,,,	2,4394	4.2+/-10.8	0,2,2196	52.0	60.0	58.0		2862,2910,2892,2850	0.7	0.3	16	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM65A	NM_001193522.1,NM_001193523.1,NM_001193524.1,NM_024519.3	,,,	0,3,6495	AA,AG,GG		0.0116,0.0455,0.0231	,,,	954/1224,970/1240,964/1234,950/1220	67578714	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67578714G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2862G>A	16.37:g.67578714G>A						FAM65A_ENST00000042381.4_Silent_p.P950P|FAM65A_ENST00000428437.2_Silent_p.P964P|FAM65A_ENST00000422602.2_Silent_p.P970P|FAM65A_ENST00000379312.3_Silent_p.P954P	p.P969P			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	17	3127	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	954					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.2907G>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	1.594	-0.528359	0.04112	4.55E-4	1.16E-4	ENSG00000039523	ENST00000428437	.	.	.	5.65	0.717	0.18196	.	.	.	.	.	T	0.40932	0.1137	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25606	-1.0127	4	.	.	.	-4.7731	1.0958	0.01673	0.3021:0.0879:0.2457:0.3643	.	.	.	.	S	944	.	.	G	+	1	0	FAM65A	66136215	0.169000	0.23002	0.278000	0.24718	0.309000	0.27889	0.642000	0.24735	0.413000	0.25759	-0.262000	0.10625	GGC		0.652	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		31	99	0	0	0	1	0	31	99				
OR5AN1	390195	broad.mit.edu	37	11	59132063	59132063	+	Silent	SNP	C	C	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr11:59132063C>T	ENST00000313940.2	+	1	179	c.132C>T	c.(130-132)ctC>ctT	p.L44L		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CCTGGAACCTCTCCCTCATTG	0.428																																						ENST00000313940.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						c.(130-132)ctC>ctT		olfactory receptor, family 5, subfamily AN, member 1							190.0	175.0	180.0					11																	59132063		2201	4295	6496	SO:0001819	synonymous_variant	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132063C>T	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.132C>T	11.37:g.59132063C>T							p.L44L	NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN			1	179	+			44					B9EIS2|Q6IEV4	Silent	SNP	ENST00000313940.2	37	c.132C>T	CCDS31559.1																																																																																				0.428	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		49	182	0	0	0	1	0	49	182				
SERPINA13P	388007	broad.mit.edu	37	14	95107273	95107273	+	RNA	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr14:95107273C>G	ENST00000469935.1	+	0	212					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)										CCATGAGTCACCTCCTGGCCC	0.567																																						ENST00000469935.1																			0																				36.0	39.0	38.0					14																	95107273		2000	4155	6155			0							g.chr14:95107273C>G	AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95107273C>G								NR_015340.1						0	212	+									RNA	SNP	ENST00000469935.1	37																																																																																						0.567	SERPINA13P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316754.1	NR_015340		2	10	0	0	0	1	0	2	10				
ATRX	546	broad.mit.edu	37	X	76890195	76890195	+	Splice_Site	SNP	C	C	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:76890195C>G	ENST00000373344.5	-	17	4914		c.e17-1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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.?(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						AACTGAACACCTAAAAATAAC	0.353			"""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"""		1	Unknown(1)	p.?(1)	bone(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.e17-1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						113.0	113.0	113.0					X																	76890195		2203	4296	6499	SO:0001630	splice_region_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:76890195C>G	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.4700-1G>C	X.37:g.76890195C>G						ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			17	4914	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150088	0.78001	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.913	0.92493	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76776851	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.463000	0.80869	2.414000	0.81942	0.600000	0.82982	.		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	35	128	0	0	0	1	0	35	128				
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																						ENST00000487519.1																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(430-432)acfs		transcription factor A, mitochondrial							39.0	47.0	44.0					10																	60148570		2195	4296	6491	SO:0001589	frameshift_variant	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60148570delA	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs					TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs	p.T144fs	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN			4	958	+			144					A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	ENST00000487519.1	37	c.432delA	CCDS7253.1																																																																																				0.269	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		8	91						8	91	---	---	---	---
