#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
C1QTNF1	114897	broad.mit.edu	37	17	77042695	77042695	+	Missense_Mutation	SNP	C	C	T	rs566478936		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr17:77042695C>T	ENST00000339142.2	+	4	769	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	C1QTNF1_ENST00000580454.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.R72W|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000311661.4_5'UTR|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.R82W|C1QTNF1_ENST00000578229.1_5'UTR	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	72					negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCCTGCTTCCCGGTGCTTGCG	0.552											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	1	0.000199681	0.0	0.0014	5008	,	,		18601	0.0		0.0	False		,,,				2504	0.0					ENST00000339142.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(214-216)Cgg>Tgg		C1q and tumor necrosis factor related protein 1							81.0	80.0	81.0					17																	77042695		2203	4300	6503	SO:0001583	missense	114897					collagen		g.chr17:77042695C>T	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.214C>T	17.37:g.77042695C>T	ENSP00000340864:p.Arg72Trp		OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	C1QTNF1_ENST00000311661.4_5'UTR|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.R72W|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.R82W	p.R72W	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		4	769	+			72					Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.214C>T	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	c	15.13	2.742756	0.49151	.	.	ENSG00000173918	ENST00000339142;ENST00000354124;ENST00000392444;ENST00000392445	T;T	0.77098	-1.06;-1.07	4.21	-0.947	0.10382	.	0.894126	0.09311	N	0.819559	T	0.64360	0.2591	L	0.27053	0.805	0.09310	N	1	P;P;P	0.52170	0.951;0.951;0.843	B;B;B	0.42653	0.394;0.28;0.28	T	0.57207	-0.7851	10	0.66056	D	0.02	.	8.0032	0.30310	0.4121:0.3508:0.2371:0.0	.	82;82;72	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	W	72;82;72;82	ENSP00000340864:R72W;ENSP00000343230:R82W	ENSP00000340864:R72W	R	+	1	2	C1QTNF1	74554290	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-0.167000	0.09940	0.069000	0.16605	0.556000	0.70494	CGG		0.552	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		29	70	0	0	0	1	0	29	70				
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C	rs540968052		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383																																						ENST00000558896.1																			0																																																			0							g.chr15:22332492A>C																													15.37:g.22332492A>C														0	299	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.383	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			4	172	0	0	0	1	0	4	172				
BCOR	54880	broad.mit.edu	37	X	39933591	39933591	+	Silent	SNP	C	C	T			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chrX:39933591C>T	ENST00000378444.4	-	4	1236	c.1008G>A	c.(1006-1008)tcG>tcA	p.S336S	BCOR_ENST00000397354.3_Silent_p.S336S|BCOR_ENST00000378455.4_Silent_p.S336S|BCOR_ENST00000342274.4_Silent_p.S336S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	336					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACGGCCGAGGCGAGGGGGGCA	0.632			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(1006-1008)tcG>tcA		BCL6 corepressor							35.0	29.0	31.0					X																	39933591		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933591C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1008G>A	X.37:g.39933591C>T						BCOR_ENST00000378455.4_Silent_p.S336S|BCOR_ENST00000378444.4_Silent_p.S336S|BCOR_ENST00000397354.3_Silent_p.S336S	p.S336S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	1370	-			336					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.1008G>A	CCDS48093.1																																																																																				0.632	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		3	26	0	0	0	1	0	3	26				
OBP2A	29991	broad.mit.edu	37	9	138441168	138441168	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr9:138441168G>A	ENST00000539850.1	+	6	531	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	OBP2A_ENST00000340780.3_Silent_p.S190S|OBP2A_ENST00000371776.1_Missense_Mutation_p.E169K|OBP2A_ENST00000342114.4_Missense_Mutation_p.E146K			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	169					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGCGTTCTCGAACACTAGGG	0.612																																						ENST00000539850.1																			0				endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(505-507)Gaa>Aaa		odorant binding protein 2A							101.0	114.0	110.0					9																	138441168		2049	4237	6286	SO:0001583	missense	29991				response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:138441168G>A	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.505G>A	9.37:g.138441168G>A	ENSP00000441028:p.Glu169Lys					OBP2A_ENST00000371776.1_Missense_Mutation_p.E169K|OBP2A_ENST00000340780.3_Silent_p.S190S|OBP2A_ENST00000342114.4_Missense_Mutation_p.E146K	p.E169K			Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	6	531	+			169					Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	ENST00000539850.1	37	c.505G>A	CCDS6992.1	.	.	.	.	.	.	.	.	.	.	g	12.12	1.843326	0.32606	.	.	ENSG00000122136	ENST00000342114;ENST00000371776;ENST00000539850	T;T;T	0.20200	2.09;2.33;2.33	1.66	-0.457	0.12186	.	.	.	.	.	T	0.20780	0.0500	M	0.81497	2.545	0.09310	N	1	D;P	0.58970	0.984;0.487	B;B	0.39876	0.312;0.034	T	0.22591	-1.0212	9	0.87932	D	0	0.0361	2.8728	0.05621	0.2011:0.2988:0.5:0.0	.	146;169	Q5T8A4;Q9NY56	.;OBP2A_HUMAN	K	146;169;169	ENSP00000340950:E146K;ENSP00000360841:E169K;ENSP00000441028:E169K	ENSP00000340950:E146K	E	+	1	0	OBP2A	137580989	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.209000	0.03002	-0.109000	0.12044	0.299000	0.19835	GAA		0.612	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582		11	51	0	0	0	1	0	11	51				
LRP5	4041	broad.mit.edu	37	11	68177463	68177463	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr11:68177463G>A	ENST00000294304.7	+	10	2279	c.2173G>A	c.(2173-2175)Gtt>Att	p.V725I		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	725	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGCATGGCCGTTGACTGGAT	0.632																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2173-2175)Gtt>Att		low density lipoprotein receptor-related protein 5							120.0	105.0	110.0					11																	68177463		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68177463G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2173G>A	11.37:g.68177463G>A	ENSP00000294304:p.Val725Ile						p.V725I	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			10	2279	+			725			Beta-propeller 3.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.2173G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544026	0.86022	.	.	ENSG00000162337	ENST00000294304	D	0.97161	-4.27	4.41	4.41	0.53225	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.43579	U	0.000543	D	0.97617	0.9219	L	0.49455	1.56	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	D	0.97672	1.0167	10	0.46703	T	0.11	.	17.6349	0.88119	0.0:0.0:1.0:0.0	.	725;725	Q9UES7;O75197	.;LRP5_HUMAN	I	725	ENSP00000294304:V725I	ENSP00000294304:V725I	V	+	1	0	LRP5	67934039	1.000000	0.71417	0.336000	0.25522	0.826000	0.46750	9.415000	0.97375	2.467000	0.83353	0.555000	0.69702	GTT		0.632	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		3	62	0	0	0	1	0	3	62				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000564451.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																0							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000567960.1_RNA								0	971	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	23	0	0	0	1	0	4	23				
TSPAN8	7103	broad.mit.edu	37	12	71531789	71531789	+	Missense_Mutation	SNP	C	C	T	rs148575105		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr12:71531789C>T	ENST00000393330.2	-	9	940	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	TSPAN8_ENST00000546561.1_Missense_Mutation_p.A130T|TSPAN8_ENST00000247829.3_Missense_Mutation_p.A130T|TSPAN8_ENST00000552128.1_Missense_Mutation_p.A47T|TSPAN8_ENST00000552786.1_5'Flank			P19075	TSN8_HUMAN	tetraspanin 8	130					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TCCCCTGTGGCGCTCAAAAGC	0.343																																						ENST00000393330.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19						c.(388-390)Gcc>Acc		tetraspanin 8		C	THR/ALA	0,4406		0,0,2203	162.0	157.0	158.0		388	-11.4	0.0	12	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSPAN8	NM_004616.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	130/238	71531789	1,13005	2203	4300	6503	SO:0001583	missense	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71531789C>T	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.388G>A	12.37:g.71531789C>T	ENSP00000377003:p.Ala130Thr					TSPAN8_ENST00000552128.1_Missense_Mutation_p.A47T|TSPAN8_ENST00000546561.1_Missense_Mutation_p.A130T|TSPAN8_ENST00000247829.3_Missense_Mutation_p.A130T	p.A130T			P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		9	940	-			130					B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	c.388G>A	CCDS8999.1	.	.	.	.	.	.	.	.	.	.	C	3.715	-0.058669	0.07317	0.0	1.16E-4	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.71	-11.4	0.00090	Tetraspanin, EC2 domain (1);	3.362960	0.00769	N	0.001189	T	0.39489	0.1080	N	0.02247	-0.625	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.50162	-0.8860	10	0.06891	T	0.86	.	0.145	0.00087	0.3369:0.1724:0.2039:0.2869	.	130	P19075	TSN8_HUMAN	T	130;130;130;47	ENSP00000377003:A130T;ENSP00000247829:A130T;ENSP00000447160:A130T;ENSP00000449820:A47T	ENSP00000247829:A130T	A	-	1	0	TSPAN8	69818056	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.992000	0.00318	-3.010000	0.00273	-2.277000	0.00273	GCC		0.343	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		36	53	0	0	0	1	0	36	53				
SPPL3	121665	broad.mit.edu	37	12	121221497	121221497	+	Silent	SNP	T	T	C			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr12:121221497T>C	ENST00000353487.2	-	5	872	c.369A>G	c.(367-369)agA>agG	p.R123R		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	124						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGAGCAGGGTCTTGTTAAAT	0.323																																						ENST00000353487.2																			0											c.(367-369)agA>agG		signal peptide peptidase like 3							77.0	79.0	78.0					12																	121221497		2203	4300	6503	SO:0001819	synonymous_variant	121665					integral to membrane	aspartic-type endopeptidase activity	g.chr12:121221497T>C		CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.369A>G	12.37:g.121221497T>C							p.R123R	NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN			5	872	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		124					Q3MJ04|Q8TAU4|Q96DD9	Silent	SNP	ENST00000353487.2	37	c.369A>G	CCDS9208.1																																																																																				0.323	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015		8	27	0	0	0	1	0	8	27				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	25	0	0	0	1	0	15	25				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	5	0	0	0	1	0	17	5				
POLB	5423	broad.mit.edu	37	8	42214719	42214719	+	Missense_Mutation	SNP	G	G	A	rs368102815		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr8:42214719G>A	ENST00000265421.4	+	8	625	c.455G>A	c.(454-456)cGt>cAt	p.R152H	POLB_ENST00000538005.1_5'UTR	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	152					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	AGAATTCCTCGTGAAGAGATG	0.299								DNA polymerases (catalytic subunits)																														ENST00000265421.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16						c.(454-456)cGt>cAt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), beta	Cytarabine(DB00987)	G	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	64.0	70.0	68.0		455	5.1	1.0	8		68	0,8594		0,0,4297	no	missense	POLB	NM_002690.2	29	0,4,6496	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	152/336	42214719	4,12996	2203	4297	6500	SO:0001583	missense	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42214719G>A		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.455G>A	8.37:g.42214719G>A	ENSP00000265421:p.Arg152His					POLB_ENST00000538005.1_5'UTR	p.R152H	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		8	625	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	152					B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	c.455G>A	CCDS6129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.775411|4.775411	0.90108|0.90108	9.08E-4|9.08E-4	0.0|0.0	ENSG00000070501|ENSG00000070501	ENST00000532157;ENST00000265421;ENST00000518925|ENST00000518579	T;T|.	0.50001|.	0.76;0.76|.	5.93|5.93	5.05|5.05	0.67936|0.67936	DNA-directed DNA polymerase X (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79782|0.79782	0.4505|0.4505	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	P;D|.	0.91635|.	0.704;0.999|.	T|T	0.83097|0.83097	-0.0130|-0.0130	10|5	0.87932|.	D|.	0|.	2.3915|2.3915	14.3061|14.3061	0.66386|0.66386	0.0:0.0:0.8503:0.1497|0.0:0.0:0.8503:0.1497	.|.	152;152|.	Q53EV2;P06746|.	.;DPOLB_HUMAN|.	H|M	38;152;187|10	ENSP00000265421:R152H;ENSP00000430784:R187H|.	ENSP00000265421:R152H|.	R|V	+|+	2|1	0|0	POLB|POLB	42333876|42333876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.958000|6.958000	0.76025|0.76025	1.496000|1.496000	0.48567|0.48567	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.299	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		18	26	0	0	0	1	0	18	26				
WASH3P	374666	broad.mit.edu	37	15	102515298	102515298	+	RNA	SNP	C	C	T	rs530852091	byFrequency	TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr15:102515298C>T	ENST00000557932.1	+	0	1144				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.I373I(1)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CTGGGGGCATCGGCAAGGCCA	0.652													c|||	4	0.000798722	0.0	0.0	5008	,	,		30507	0.002		0.002	False		,,,				2504	0.0					ENST00000557932.1																			1	Substitution - coding silent(1)	p.I373I(1)	kidney(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515298C>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515298C>T														0	1144	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	17	0	0	0	1	0	4	17				
IL22RA1	58985	broad.mit.edu	37	1	24447579	24447579	+	Silent	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr1:24447579G>A	ENST00000270800.1	-	7	1479	c.1441C>T	c.(1441-1443)Cta>Tta	p.L481L		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	481					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CCACTGTGTAGCACATTTGGG	0.567																																						ENST00000270800.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1441-1443)Cta>Tta		interleukin 22 receptor, alpha 1							155.0	133.0	141.0					1																	24447579		2203	4300	6503	SO:0001819	synonymous_variant	58985					integral to membrane	interferon receptor activity	g.chr1:24447579G>A	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.1441C>T	1.37:g.24447579G>A							p.L481L	NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	7	1479	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	481					A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37	c.1441C>T	CCDS247.1																																																																																				0.567	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			25	50	0	0	0	1	0	25	50				
ELMSAN1	91748	broad.mit.edu	37	14	74196470	74196470	+	Silent	SNP	C	C	T	rs149124754		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr14:74196470C>T	ENST00000286523.5	-	4	2750	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	ELMSAN1_ENST00000394071.2_Silent_p.P656P	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	656					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P656P(1)									GGATGGGGGGCGGCGTGTAGG	0.612																																						ENST00000286523.5																			1	Substitution - coding silent(1)	p.P656P(1)	lung(1)								c.(1966-1968)ccG>ccA		ELM2 and Myb/SANT-like domain containing 1		C	,	0,4406		0,0,2203	68.0	62.0	64.0		1968,1968	-4.1	1.0	14	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C14orf43	NM_001043318.1,NM_194278.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	656/1046,656/1046	74196470	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91748							g.chr14:74196470C>T	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1968G>A	14.37:g.74196470C>T						ELMSAN1_ENST00000394071.2_Silent_p.P656P	p.P656P	NM_194278.3	NP_919254.2					4	2750	-								Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	c.1968G>A	CCDS9819.1																																																																																				0.612	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		4	31	0	0	0	1	0	4	31				
NT5DC2	64943	broad.mit.edu	37	3	52563192	52563192	+	Missense_Mutation	SNP	G	G	A	rs573448959		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr3:52563192G>A	ENST00000307076.4	-	2	680	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	NT5DC2_ENST00000422318.2_Missense_Mutation_p.R131C|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R60C|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R131C|NT5DC2_ENST00000490681.1_5'UTR	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	94							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		AGGATGTCACGGGCGGTACTG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19941	0.0		0.0	False		,,,				2504	0.001					ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(280-282)Cgt>Tgt		5'-nucleotidase domain containing 2							219.0	172.0	188.0					3																	52563192		2203	4300	6503	SO:0001583	missense	64943						hydrolase activity|metal ion binding	g.chr3:52563192G>A	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.280C>T	3.37:g.52563192G>A	ENSP00000302468:p.Arg94Cys					NT5DC2_ENST00000307092.4_Missense_Mutation_p.R60C|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R131C|NT5DC2_ENST00000490681.1_5'UTR|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R131C	p.R94C	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	2	680	-			94					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	c.280C>T	CCDS2858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.21|19.21	3.783393|3.783393	0.70222|0.70222	.|.	.|.	ENSG00000168268|ENSG00000168268	ENST00000489316|ENST00000307092;ENST00000307076;ENST00000422318;ENST00000459839	.|T;T;T;T	.|0.23348	.|1.91;1.91;1.91;1.91	5.41|5.41	4.46|4.46	0.54185|0.54185	.|HAD-like domain (1);	.|0.049705	.|0.85682	.|D	.|0.000000	T|T	0.52645|0.52645	0.1747|0.1747	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.89917	.|1.0;0.905;0.905	.|D;B;B	.|0.74023	.|0.982;0.33;0.33	T|T	0.58031|0.58031	-0.7708|-0.7708	5|10	.|0.62326	.|D	.|0.03	-17.9696|-17.9696	10.8889|10.8889	0.46984|0.46984	0.0:0.0:0.5795:0.4205|0.0:0.0:0.5795:0.4205	.|.	.|131;94;131	.|C9JTZ6;Q9H857;E9PAL9	.|.;NT5D2_HUMAN;.	L|C	62|60;94;131;131	.|ENSP00000306017:R60C;ENSP00000302468:R94C;ENSP00000406933:R131C;ENSP00000419547:R131C	.|ENSP00000302468:R94C	P|R	-|-	2|1	0|0	NT5DC2|NT5DC2	52538232|52538232	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.783000|0.783000	0.44284|0.44284	3.566000|3.566000	0.53805|0.53805	2.534000|2.534000	0.85438|0.85438	0.555000|0.555000	0.69702|0.69702	CCG|CGT		0.597	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		8	24	0	0	0	1	0	8	24				
TTC37	9652	broad.mit.edu	37	5	94834107	94834107	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr5:94834107G>A	ENST00000358746.2	-	33	3828	c.3530C>T	c.(3529-3531)gCt>gTt	p.A1177V		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1177						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTTTGCACAGCCACACTGCG	0.393																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(3529-3531)gCt>gTt		tetratricopeptide repeat domain 37							179.0	173.0	175.0					5																	94834107		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94834107G>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3530C>T	5.37:g.94834107G>A	ENSP00000351596:p.Ala1177Val						p.A1177V	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			33	3828	-			1177					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.3530C>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708012	0.48412	.	.	ENSG00000198677	ENST00000358746	T	0.38887	1.11	5.85	5.85	0.93711	Tetratricopeptide-like helical (1);	0.104106	0.64402	D	0.000004	T	0.38878	0.1057	L	0.50333	1.59	0.34688	D	0.725467	P	0.41041	0.736	B	0.36378	0.223	T	0.52518	-0.8565	10	0.36615	T	0.2	.	17.1314	0.86727	0.0:0.1261:0.8739:0.0	.	1177	Q6PGP7	TTC37_HUMAN	V	1177	ENSP00000351596:A1177V	ENSP00000351596:A1177V	A	-	2	0	TTC37	94859863	0.989000	0.36119	0.877000	0.34402	0.013000	0.08279	1.924000	0.40065	2.768000	0.95171	0.655000	0.94253	GCT		0.393	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		13	107	0	0	0	1	0	13	107				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	97	0	0	0	1	0	4	97				
AVL9	23080	broad.mit.edu	37	7	32582854	32582854	+	Silent	SNP	C	C	T	rs367575541		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr7:32582854C>T	ENST00000318709.4	+	2	416	c.195C>T	c.(193-195)ggC>ggT	p.G65G	AVL9_ENST00000409301.1_Silent_p.G65G|AVL9_ENST00000404479.1_Silent_p.G65G	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	65					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)		p.G65G(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TACCAGATGGCGCACACAACT	0.423																																						ENST00000318709.4																			2	Substitution - coding silent(2)	p.G65G(2)	endometrium(2)	endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(193-195)ggC>ggT		AVL9 homolog (S. cerevisiase)		C		0,4406		0,0,2203	174.0	143.0	154.0		195	-5.2	1.0	7		154	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AVL9	NM_015060.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		65/649	32582854	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23080					integral to membrane		g.chr7:32582854C>T	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.195C>T	7.37:g.32582854C>T						AVL9_ENST00000404479.1_Silent_p.G65G|AVL9_ENST00000409301.1_Silent_p.G65G	p.G65G	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			2	416	+			65					Q92573	Silent	SNP	ENST00000318709.4	37	c.195C>T	CCDS34613.1																																																																																				0.423	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		4	110	0	0	0	1	0	4	110				
JPH2	57158	broad.mit.edu	37	20	42788536	42788536	+	Silent	SNP	G	G	A			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr20:42788536G>A	ENST00000372980.3	-	2	1763	c.891C>T	c.(889-891)aaC>aaT	p.N297N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	297					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGCGTTTGTCGTTCTTCCACT	0.687																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(889-891)aaC>aaT		junctophilin 2							59.0	52.0	55.0					20																	42788536		2203	4300	6503	SO:0001819	synonymous_variant	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788536G>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.891C>T	20.37:g.42788536G>A							p.N297N	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1763	-		Myeloproliferative disorder(115;0.0122)	297					E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	c.891C>T	CCDS13325.1																																																																																				0.687	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			5	10	0	0	0	1	0	5	10				
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs147310450|rs141096512|rs58784721	byFrequency	TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485														1607	0.320887	0.3389	0.366	5008	,	,		16526	0.1716		0.3738	False		,,,				2504	0.364					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721722_17721723delGA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721724_17721725delGA										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1545	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.485	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		3	3						3	3	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35563469	35563469	+	Frame_Shift_Del	DEL	A	A	-	rs199507327		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr8:35563469delA	ENST00000404895.2	+	8	1435	c.1107delA	c.(1105-1107)atafs	p.I369fs	UNC5D_ENST00000416672.1_Frame_Shift_Del_p.I369fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.I364fs|UNC5D_ENST00000287272.2_Frame_Shift_Del_p.I313fs|UNC5D_ENST00000420357.1_Intron	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	369					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTCATGAAATAAAACCCCAAA	0.289																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(937-939)atfs		unc-5 homolog D (C. elegans)							46.0	45.0	46.0					8																	35563469		2200	4297	6497	SO:0001589	frameshift_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35563469delA	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1107delA	8.37:g.35563469delA	ENSP00000385143:p.Ile369fs					UNC5D_ENST00000416672.1_Frame_Shift_Del_p.I369fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.I364fs|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.I369fs	p.I313fs			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	7	959	+			369			TSP type-1 2.		Q8WYP7	Frame_Shift_Del	DEL	ENST00000404895.2	37	c.939delA	CCDS6093.2																																																																																				0.289	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			2	4						2	4	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7750178	7750183	+	In_Frame_Del	DEL	ACCACC	ACCACC	-			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr17:7750178_7750183delACCACC	ENST00000448097.2	+	9	1084_1089	c.753_758delACCACC	c.(751-759)ttaccacca>tta	p.PP262del	KDM6B_ENST00000254846.5_In_Frame_Del_p.PP262del			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	262	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						caccaccattaccaccaccaccacca	0.607																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(751-759)tta>tt		lysine (K)-specific demethylase 6B																																				SO:0001651	inframe_deletion	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7750178_7750183delACCACC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.753_758delACCACC	17.37:g.7750184_7750189delACCACC	ENSP00000412513:p.Pro262_Pro263del					KDM6B_ENST00000448097.2_In_Frame_Del_p.LPP251del	p.LPP251del	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			9	1142_1147	+			251			Pro-rich.		C9IZ40|Q96G33	In_Frame_Del	DEL	ENST00000448097.2	37	c.753_758delACCACC																																																																																					0.607	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		8	11						8	11	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62193251	62193251	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr20:62193251delG	ENST00000467148.1	-	11	6685	c.6616delC	c.(6616-6618)cgtfs	p.R2206fs	HELZ2_ENST00000427522.2_Frame_Shift_Del_p.R1637fs	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2206	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TTCTCCCCACGGGGGGGGCCT	0.647																																						ENST00000467148.1																			0											c.(6616-6618)gtfs		helicase with zinc finger 2, transcriptional coactivator			,	50,45,3881		3,0,44,1,43,1897					,	-2.0	0.0			7	161,78,7677		5,0,151,1,76,3725	no	codingComplex,codingComplex	PRIC285	NM_033405.3,NM_001037335.2	,	8,0,195,2,119,5622	A1A1,A1A2,A1R,A2A2,A2R,RR		3.0192,2.3893,2.8086	,	,		211,123,11558				SO:0001589	frameshift_variant	85441							g.chr20:62193251delG	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6616delC	20.37:g.62193251delG	ENSP00000417401:p.Arg2206fs					HELZ2_ENST00000427522.2_Frame_Shift_Del_p.R1637fs	p.R2206fs	NM_001037335.2	NP_001032412.2					11	6685	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Frame_Shift_Del	DEL	ENST00000467148.1	37	c.6616delC	CCDS33508.1																																																																																				0.647	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938114	76938114	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chrX:76938114delA	ENST00000373344.5	-	9	2848	c.2634delT	c.(2632-2634)gatfs	p.D878fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.D840fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	878					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						TTCTTTCAGCATCATCAGATG	0.388			"""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.(2632-2634)gafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						255.0	254.0	254.0					X																	76938114		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938114delA	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.2634delT	X.37:g.76938114delA	ENSP00000362441:p.Asp878fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.D840fs	p.D878fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2848	-			878					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2634delT	CCDS14434.1																																																																																				0.388	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		149	191						149	191	---	---	---	---
