#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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		5	12	0	0	0	1	0	5	12				
NPPB	4879	broad.mit.edu	37	1	11918783	11918783	+	Silent	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr1:11918783C>T	ENST00000376468.3	-	1	205	c.108G>A	c.(106-108)tcG>tcA	p.S36S		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	36					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	TTTCCAAGTCCGAGGCTGAAC	0.637																																						ENST00000376468.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(106-108)tcG>tcA		natriuretic peptide B	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)						68.0	80.0	76.0					1																	11918783		2203	4300	6503	SO:0001819	synonymous_variant	4879				body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity	g.chr1:11918783C>T	BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"""Endogenous ligands"""	7940	protein-coding gene	gene with protein product		600295	"""natriuretic peptide precursor B"""			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.108G>A	1.37:g.11918783C>T							p.S36S	NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	205	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	36					B0ZBE9|Q6FGY0|Q9P2Q7	Silent	SNP	ENST00000376468.3	37	c.108G>A	CCDS140.1																																																																																				0.637	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1	NM_002521		4	173	0	0	0	1	0	4	173				
ZNF260	339324	broad.mit.edu	37	19	37005409	37005409	+	Silent	SNP	T	T	C			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr19:37005409T>C	ENST00000523638.1	-	3	1853	c.732A>G	c.(730-732)ggA>ggG	p.G244G	ZNF260_ENST00000593142.1_Silent_p.G244G|ZNF260_ENST00000592282.1_Silent_p.G244G|ZNF260_ENST00000588993.1_Silent_p.G244G	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	244					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AAGGTTTCTCTCCTGTGTGAC	0.413																																						ENST00000523638.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15						c.(730-732)ggA>ggG		zinc finger protein 260							117.0	115.0	116.0					19																	37005409		2203	4300	6503	SO:0001819	synonymous_variant	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005409T>C	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.732A>G	19.37:g.37005409T>C						ZNF260_ENST00000588993.1_Silent_p.G244G|ZNF260_ENST00000593142.1_Silent_p.G244G|ZNF260_ENST00000592282.1_Silent_p.G244G	p.G244G	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN			3	1853	-	Esophageal squamous(110;0.162)		244					Q0VF43	Silent	SNP	ENST00000523638.1	37	c.732A>G	CCDS33003.1																																																																																				0.413	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		32	67	0	0	0	1	0	32	67				
TAS2R41	259287	broad.mit.edu	37	7	143175728	143175728	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr7:143175728G>A	ENST00000408916.1	+	1	763	c.763G>A	c.(763-765)Gca>Aca	p.A255T	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	255					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CATTGATGCCGCAAAATTTAT	0.493																																						ENST00000408916.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(763-765)Gca>Aca		taste receptor, type 2, member 41							134.0	133.0	134.0					7																	143175728		2036	4193	6229	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175728G>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.763G>A	7.37:g.143175728G>A	ENSP00000386201:p.Ala255Thr					EPHA1-AS1_ENST00000429289.1_RNA	p.A255T	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN			1	763	+	Melanoma(164;0.15)		255					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.763G>A	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	A	0.047	-1.261440	0.01445	.	.	ENSG00000221855	ENST00000408916	T	0.00700	5.82	6.0	-2.55	0.06288	.	0.960065	0.08579	N	0.924818	T	0.00552	0.0018	N	0.11673	0.155	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.43130	-0.9410	10	0.19590	T	0.45	.	9.7365	0.40390	0.2395:0.1135:0.647:0.0	.	255	P59536	T2R41_HUMAN	T	255	ENSP00000386201:A255T	ENSP00000386201:A255T	A	+	1	0	TAS2R41	142885850	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.318000	0.02705	-0.547000	0.06207	-0.977000	0.02584	GCA		0.493	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			4	145	0	0	0	1	0	4	145				
FAM90A1	55138	broad.mit.edu	37	12	8376067	8376067	+	Missense_Mutation	SNP	G	G	A	rs150256213		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr12:8376067G>A	ENST00000538603.1	-	6	968	c.410C>T	c.(409-411)aCg>aTg	p.T137M	FAM90A1_ENST00000307435.6_Missense_Mutation_p.T137M	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	137							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGAAGATTCCGTGGATCCTTT	0.527													.|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0					ENST00000538603.1																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(409-411)aCg>aTg		family with sequence similarity 90, member A1		G	MET/THR	0,4406		0,0,2203	52.0	63.0	59.0		410	-2.1	0.0	12	dbSNP_134	59	2,8598		0,2,4298	no	missense	FAM90A1	NM_018088.3	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	137/465	8376067	2,13004	2203	4300	6503	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8376067G>A	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.410C>T	12.37:g.8376067G>A	ENSP00000445418:p.Thr137Met					FAM90A1_ENST00000307435.6_Missense_Mutation_p.T137M	p.T137M	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	6	968	-			137					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.410C>T	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	2.487	-0.318425	0.05386	0.0	2.33E-4	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.15139	2.45;2.45	1.06	-2.12	0.07165	.	.	.	.	.	T	0.26484	0.0647	L	0.46157	1.445	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.17198	-1.0377	9	0.52906	T	0.07	-6.227	3.5522	0.07851	0.2106:0.0:0.5564:0.233	.	137	Q86YD7	F90A1_HUMAN	M	137	ENSP00000307798:T137M;ENSP00000445418:T137M	ENSP00000307798:T137M	T	-	2	0	FAM90A1	8267334	0.003000	0.15002	0.000000	0.03702	0.009000	0.06853	-0.788000	0.04614	-1.805000	0.01239	-1.021000	0.02439	ACG		0.527	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		22	50	0	0	0	1	0	22	50				
PABPC3	5042	broad.mit.edu	37	13	25671681	25671681	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr13:25671681C>T	ENST00000281589.3	+	1	1382	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	449					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGTGCTATCCGCCCAGGTGC	0.498																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1345-1347)Cgc>Tgc		poly(A) binding protein, cytoplasmic 3							123.0	122.0	122.0					13																	25671681		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671681C>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1345C>T	13.37:g.25671681C>T	ENSP00000281589:p.Arg449Cys						p.R449C	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1382	+		Lung SC(185;0.0225)|Breast(139;0.0602)	449					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1345C>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	6.475	0.455897	0.12283	.	.	ENSG00000151846	ENST00000281589	T	0.30448	1.53	0.875	-1.75	0.08031	.	0.132256	0.32987	N	0.005420	T	0.19005	0.0456	L	0.39397	1.21	0.53688	D	0.999974	B	0.13594	0.008	B	0.08055	0.003	T	0.02852	-1.1102	10	0.46703	T	0.11	.	5.4207	0.16398	0.0:0.5857:0.0:0.4143	.	449	Q9H361	PABP3_HUMAN	C	449	ENSP00000281589:R449C	ENSP00000281589:R449C	R	+	1	0	PABPC3	24569681	1.000000	0.71417	0.899000	0.35326	0.034000	0.12701	3.257000	0.51500	-0.692000	0.05128	-0.671000	0.03813	CGC		0.498	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		4	188	0	0	0	1	0	4	188				
MKI67	4288	broad.mit.edu	37	10	129905566	129905566	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:129905566C>T	ENST00000368654.3	-	13	4913	c.4538G>A	c.(4537-4539)aGa>aAa	p.R1513K	MKI67_ENST00000368653.3_Missense_Mutation_p.R1153K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1513	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGAGACTTCTCTTGGACTG	0.498																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4537-4539)aGa>aAa		marker of proliferation Ki-67							292.0	273.0	280.0					10																	129905566		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905566C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4538G>A	10.37:g.129905566C>T	ENSP00000357643:p.Arg1513Lys					MKI67_ENST00000368653.3_Missense_Mutation_p.R1153K	p.R1513K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4913	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1513			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4538G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740612	0.30865	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02197	4.4;4.4	2.91	-0.0526	0.13821	.	0.494458	0.17864	N	0.159404	T	0.02156	0.0067	L	0.44542	1.39	0.09310	N	1	B;P;P	0.49090	0.408;0.919;0.897	B;P;P	0.46362	0.089;0.514;0.459	T	0.28713	-1.0035	10	0.06365	T	0.9	.	4.94	0.13960	0.2085:0.1868:0.6047:0.0	.	1512;1153;1513	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	1513;1153;1512	ENSP00000357643:R1513K;ENSP00000357642:R1153K	ENSP00000357642:R1153K	R	-	2	0	MKI67	129795556	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.913000	0.04042	0.003000	0.14656	-0.502000	0.04539	AGA		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		27	332	0	0	0	1	0	27	332				
RAPH1	65059	broad.mit.edu	37	2	204304519	204304519	+	Missense_Mutation	SNP	G	G	A	rs146219972		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:204304519G>A	ENST00000319170.5	-	14	3693	c.3394C>T	c.(3394-3396)Cgc>Tgc	p.R1132C	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Missense_Mutation_p.R1184C|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1132					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAGTGAGGCGGGTGCTATCA	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		18626	0.0		0.0	False		,,,				2504	0.001					ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3394-3396)Cgc>Tgc		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1		G	CYS/ARG	0,4406		0,0,2203	113.0	103.0	106.0		3394	4.9	1.0	2	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	missense	RAPH1	NM_213589.1	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1132/1251	204304519	2,13004	2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204304519G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3394C>T	2.37:g.204304519G>A	ENSP00000316543:p.Arg1132Cys					RAPH1_ENST00000374493.3_Missense_Mutation_p.R1184C|RAPH1_ENST00000457812.1_Intron	p.R1132C	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	3693	-			1132					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.3394C>T	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662361	0.47572	0.0	2.33E-4	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.53640	0.61;0.62	4.94	4.94	0.65067	.	0.000000	0.35903	U	0.002914	T	0.56992	0.2023	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.63368	-0.6653	10	0.72032	D	0.01	-0.6455	18.1554	0.89689	0.0:0.0:1.0:0.0	.	1132	Q70E73	RAPH1_HUMAN	C	1132;1184	ENSP00000316543:R1132C;ENSP00000363617:R1184C	ENSP00000316543:R1132C	R	-	1	0	RAPH1	204012764	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	8.854000	0.92228	2.288000	0.76882	0.563000	0.77884	CGC		0.517	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		44	54	0	0	0	1	0	44	54				
TRIM6	117854	broad.mit.edu	37	11	5624532	5624532	+	5'UTR	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr11:5624532G>A	ENST00000278302.5	+	0	130				TRIM6_ENST00000380107.1_5'UTR|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R25K|TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000380097.3_Missense_Mutation_p.R25K|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000515022.1_Intron|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6						protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGAGCCAGGAGAGTAGCTACA	0.483																																						ENST00000380097.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22						c.(73-75)aGa>aAa		tripartite motif containing 6							114.0	86.0	96.0					11																	5624532		2201	4297	6498	SO:0001623	5_prime_UTR_variant	117854							g.chr11:5624532G>A	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.-11G>A	11.37:g.5624532G>A						TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000278302.5_5'UTR|TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000515022.1_Intron|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000380107.1_5'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R25K	p.R25K	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1				Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	316	+		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)						A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.74G>A	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861473	0.32884	.	.	ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000380097;ENST00000337072;ENST00000354852	D;D	0.84070	-1.8;-1.8	4.4	-0.637	0.11504	.	.	.	.	.	T	0.57475	0.2056	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.47368	-0.9123	9	0.02654	T	1	.	8.416	0.32672	0.5439:0.0:0.4561:0.0	.	25;25	B2RNG4;Q9C030-2	.;.	K	25	ENSP00000369440:R25K;ENSP00000346916:R25K	ENSP00000369440:R25K	R	+	2	0	TRIM34;TRIM6;TRIM6-TRIM34	5581108	0.823000	0.29233	0.001000	0.08648	0.578000	0.36192	0.166000	0.16583	-0.100000	0.12241	-0.137000	0.14449	AGA		0.483	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		11	40	0	0	0	1	0	11	40				
PEG3	5178	broad.mit.edu	37	19	57325168	57325168	+	Missense_Mutation	SNP	G	G	A	rs576263292		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr19:57325168G>A	ENST00000326441.9	-	10	5005	c.4642C>T	c.(4642-4644)Cgt>Tgt	p.R1548C	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R1422C|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1548C|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R1424C	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1548					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTGCTGGCACGTTCGATGTAG	0.522																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(4642-4644)Cgt>Tgt		paternally expressed 3							150.0	128.0	135.0					19																	57325168		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325168G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4642C>T	19.37:g.57325168G>A	ENSP00000326581:p.Arg1548Cys					ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R1422C|PEG3_ENST00000598410.1_Missense_Mutation_p.R1424C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1548C|ZIM2_ENST00000599935.1_Intron	p.R1548C	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	5005	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1548					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.4642C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	9.852	1.194066	0.22037	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02944	4.1;4.1	3.97	2.94	0.34122	.	1.335950	0.05106	N	0.488052	T	0.02533	0.0077	N	0.08118	0	.	.	.	D;P;B	0.63880	0.993;0.83;0.013	B;B;B	0.44315	0.446;0.092;0.002	T	0.43343	-0.9397	9	0.62326	D	0.03	-2.2214	7.263	0.26214	0.1179:0.0:0.8821:0.0	.	1424;1548;1483	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	C	1548	ENSP00000326581:R1548C;ENSP00000403051:R1548C	ENSP00000326581:R1548C	R	-	1	0	ZIM2	62016980	0.010000	0.17322	0.001000	0.08648	0.800000	0.45204	1.887000	0.39698	1.258000	0.44101	0.591000	0.81541	CGT		0.522	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			20	75	0	0	0	1	0	20	75				
BAGE2	85319	broad.mit.edu	37	21	11047557	11047557	+	RNA	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr21:11047557G>A	ENST00000470054.1	-	0	697							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTGTCACACGTATCACACAC	0.333																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11047557G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11047557G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	697	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.333	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		33	470	0	0	0	1	0	33	470				
TNS4	84951	broad.mit.edu	37	17	38645118	38645118	+	Silent	SNP	A	A	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:38645118A>G	ENST00000254051.6	-	3	701	c.543T>C	c.(541-543)agT>agC	p.S181S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	181	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGAGGCCACCACTGCGAAGGG	0.642																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(541-543)agT>agC		tensin 4							49.0	61.0	57.0					17																	38645118		2201	4298	6499	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38645118A>G	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.543T>C	17.37:g.38645118A>G							p.S181S	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	701	-		Breast(137;0.000496)	181			Ser-rich.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.543T>C	CCDS11368.1																																																																																				0.642	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		6	153	0	0	0	1	0	6	153				
C1QTNF1	114897	broad.mit.edu	37	17	77043851	77043851	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:77043851A>C	ENST00000339142.2	+	5	1082	c.527A>C	c.(526-528)gAc>gCc	p.D176A	C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D94A|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D94A|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D186A|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D176A|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D176A	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	176	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				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)			AACCTCTACGACCACTTCAAC	0.562																																						ENST00000339142.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(526-528)gAc>gCc		C1q and tumor necrosis factor related protein 1							166.0	151.0	156.0					17																	77043851		2203	4300	6503	SO:0001583	missense	114897					collagen		g.chr17:77043851A>C	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.527A>C	17.37:g.77043851A>C	ENSP00000340864:p.Asp176Ala					C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D94A|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D176A|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D186A|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D94A	p.D176A	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		5	1082	+			176			C1q.		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.527A>C	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965837	0.34659	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.22945	1.93;1.93;1.93	4.72	3.73	0.42828	Tumour necrosis factor-like (2);Complement C1q protein (4);	1.337000	0.04802	N	0.433541	T	0.21267	0.0512	N	0.19112	0.55	0.09310	N	1	B;B;B	0.16603	0.018;0.018;0.005	B;B;B	0.25987	0.065;0.04;0.016	T	0.34625	-0.9821	10	0.52906	T	0.07	.	7.5486	0.27781	0.3757:0.0:0.6243:0.0	.	186;186;176	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	A	176;94;186;176;186	ENSP00000340864:D176A;ENSP00000311265:D94A;ENSP00000343230:D186A	ENSP00000311265:D94A	D	+	2	0	C1QTNF1	74555446	0.994000	0.37717	0.937000	0.37676	0.939000	0.58152	1.949000	0.40313	0.397000	0.25310	-0.215000	0.12644	GAC		0.562	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		64	115	0	0	0	1	0	64	115				
TNRC6A	27327	broad.mit.edu	37	16	24800571	24800571	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr16:24800571C>G	ENST00000395799.3	+	6	737	c.608C>G	c.(607-609)tCa>tGa	p.S203*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.S203*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	203	Interaction with argonaute family proteins.|Ser-rich.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CACAGTACTTCAGGATCCCAT	0.353																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(607-609)tCa>tGa		trinucleotide repeat containing 6A							42.0	42.0	42.0					16																	24800571		1902	4154	6056	SO:0001587	stop_gained	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24800571C>G	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.608C>G	16.37:g.24800571C>G	ENSP00000379144:p.Ser203*					TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.S203*	p.S203*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	737	+			203			Ser-rich.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Nonsense_Mutation	SNP	ENST00000395799.3	37	c.608C>G	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	38	6.737612	0.97801	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	.	.	.	5.92	4.88	0.63580	.	0.413435	0.23393	N	0.048670	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-7.1815	3.9256	0.09262	0.0:0.6828:0.0:0.3172	.	.	.	.	X	203	.	ENSP00000326900:S203X	S	+	2	0	TNRC6A	24708072	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.121000	0.57904	2.809000	0.96659	0.467000	0.42956	TCA		0.353	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		5	67	0	0	0	1	0	5	67				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	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			22	45	0	0	0	1	0	22	45				
ANKRD32	84250	broad.mit.edu	37	5	94030832	94030832	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr5:94030832G>A	ENST00000265140.5	+	21	3411	c.2992G>A	c.(2992-2994)Gaa>Aaa	p.E998K	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	998						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AAGTCATAAAGAAACCACCAG	0.343																																						ENST00000265140.5																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.(2992-2994)Gaa>Aaa		ankyrin repeat domain 32							64.0	64.0	64.0					5																	94030832		2203	4299	6502	SO:0001583	missense	84250							g.chr5:94030832G>A	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2992G>A	5.37:g.94030832G>A	ENSP00000265140:p.Glu998Lys					ANKRD32_ENST00000493934.1_Intron	p.E998K	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	21	3411	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	998					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	c.2992G>A	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406230	0.62288	.	.	ENSG00000133302	ENST00000265140	T	0.43688	0.94	5.46	4.57	0.56435	.	0.671695	0.15181	N	0.276081	T	0.33585	0.0868	L	0.27053	0.805	0.34188	D	0.671708	P	0.52842	0.956	B	0.44224	0.444	T	0.45702	-0.9243	10	0.44086	T	0.13	.	11.7023	0.51577	0.0:0.134:0.7268:0.1391	.	998	Q9BQI6	ANR32_HUMAN	K	998	ENSP00000265140:E998K	ENSP00000265140:E998K	E	+	1	0	ANKRD32	94056588	0.975000	0.34042	0.993000	0.49108	0.975000	0.68041	1.160000	0.31761	1.257000	0.44085	0.591000	0.81541	GAA		0.343	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		9	55	0	0	0	1	0	9	55				
CR1	1378	broad.mit.edu	37	1	207679428	207679428	+	Splice_Site	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr1:207679428C>T	ENST00000367049.4	+	2	301	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	CR1_ENST00000367053.1_Splice_Site_p.R101C|CR1_ENST00000367052.1_Splice_Site_p.R101C|CR1_ENST00000400960.2_Splice_Site_p.R101C|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Splice_Site_p.R101C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	101	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGGTGCAGACGTAAGTAACT	0.418																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.e2+1		complement component (3b/4b) receptor 1 (Knops blood group)							133.0	122.0	125.0					1																	207679428		1855	4088	5943	SO:0001630	splice_region_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207679428C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.301+1C>T	1.37:g.207679428C>T						CR1_ENST00000367051.1_Splice_Site_p.R101_splice|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Splice_Site_p.R101_splice|CR1_ENST00000367053.1_Splice_Site_p.R101_splice|CR1_ENST00000400960.2_Splice_Site_p.R101_splice	p.R101_splice	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			2	301	+			101			Sushi 1.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Splice_Site	SNP	ENST00000367049.4	37	c.301_splice	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471755	0.26423	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	4.13	3.22	0.36961	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.68622	0.3021	M	0.89287	3.02	0.38694	D	0.952824	D;D;D;B;B	0.89917	1.0;1.0;1.0;0.125;0.125	D;D;D;B;B	0.85130	0.997;0.933;0.966;0.024;0.014	T	0.71576	-0.4551	9	0.48119	T	0.1	.	7.9508	0.30014	0.0:0.8869:0.0:0.1131	.	101;101;76;101;101	Q5SR44;E9PQN4;Q5SR42;P17927;E9PDY4	.;.;.;CR1_HUMAN;.	C	101	ENSP00000356019:R101C;ENSP00000356018:R101C;ENSP00000356020:R101C;ENSP00000383744:R101C;ENSP00000436139:R101C;ENSP00000356016:R101C	ENSP00000356016:R101C	R	+	1	0	CR1	205746051	0.924000	0.31332	0.879000	0.34478	0.442000	0.32017	1.678000	0.37586	1.096000	0.41439	0.591000	0.81541	CGT		0.418	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	Missense_Mutation	10	117	0	0	0	1	0	10	117				
TCP10L	140290	broad.mit.edu	37	21	33954533	33954533	+	Missense_Mutation	SNP	C	C	T	rs200974337		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr21:33954533C>T	ENST00000300258.3	-	3	450	c.337G>A	c.(337-339)Gcg>Acg	p.A113T	AP000275.65_ENST00000553001.1_Missense_Mutation_p.A287T|TCP10L_ENST00000472557.1_Missense_Mutation_p.A27T	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	113					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCTTGCCCCGCGTGTGGGGAC	0.498																																						ENST00000300258.3																			0				breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						c.(337-339)Gcg>Acg		t-complex 10-like							134.0	127.0	130.0					21																	33954533		2203	4300	6503	SO:0001583	missense	140290							g.chr21:33954533C>T	AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"""t-complex 10 (a murine tcp homolog)-like"", ""t-complex 10 (mouse)-like"""			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.337G>A	21.37:g.33954533C>T	ENSP00000300258:p.Ala113Thr					TCP10L_ENST00000491828.1_5'UTR	p.A113T	NM_144659.5	NP_653260.1					3	450	-								Q53EW0|Q96LN5	Missense_Mutation	SNP	ENST00000300258.3	37	c.337G>A	CCDS13616.1	.	.	.	.	.	.	.	.	.	.	C	6.457	0.452389	0.12283	.	.	ENSG00000242220;ENSG00000159079	ENST00000300258;ENST00000553001	T;T	0.17691	2.26;2.26	0.591	-1.13	0.09775	.	.	.	.	.	T	0.13200	0.0320	M	0.62723	1.935	0.09310	N	1	B;P	0.38020	0.013;0.615	B;B	0.31337	0.001;0.128	T	0.13872	-1.0493	7	.	.	.	.	.	.	.	.	287;113	F8VZ95;Q8TDR4	.;TCP1L_HUMAN	T	113;287	ENSP00000300258:A113T;ENSP00000446874:A287T	.	A	-	1	0	C21orf59;TCP10L	32876404	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.052000	0.14163	-0.463000	0.06973	-0.474000	0.04947	GCG		0.498	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139350.1	NM_144659		57	112	0	0	0	1	0	57	112				
TP53	7157	broad.mit.edu	37	17	7578492	7578492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:7578492C>T	ENST00000269305.4	-	5	627	c.438G>A	c.(436-438)tgG>tgA	p.W146*	TP53_ENST00000420246.2_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*|TP53_ENST00000574684.1_5'Flank	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	146	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(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)	TGGAATCAACCCACAGCTGCA	0.602		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		65	Substitution - Nonsense(45)|Whole gene deletion(8)|Deletion - Frameshift(4)|Deletion - In frame(3)|Substitution - Missense(2)|Insertion - In frame(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	p.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(1)	lung(9)|liver(8)|breast(7)|large_intestine(6)|upper_aerodigestive_tract(5)|endometrium(5)|central_nervous_system(4)|oesophagus(4)|ovary(4)|bone(4)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|soft_tissue(1)|biliary_tract(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(436-438)tgG>tgA	Other conserved DNA damage response genes	tumor protein p53							58.0	57.0	57.0					17																	7578492		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578492C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.438G>A	17.37:g.7578492C>T	ENSP00000269305:p.Trp146*	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_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*	p.W146*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	570	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	146		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.438G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653238	0.47362	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	4.52	0.55395	.	0.722123	0.13656	N	0.371928	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.8394	7.2875	0.26348	0.1676:0.7467:0.0:0.0857	.	.	.	.	X	146;146;146;146;146;146;135;53;14;53;14;146	.	ENSP00000269305:W146X	W	-	3	0	TP53	7519217	0.545000	0.26449	0.478000	0.27316	0.067000	0.16453	1.174000	0.31932	1.452000	0.47756	0.655000	0.94253	TGG		0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	60	0	0	0	1	0	28	60				
CRTAC1	55118	broad.mit.edu	37	10	99683121	99683121	+	Missense_Mutation	SNP	C	C	T	rs371860011		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:99683121C>T	ENST00000370597.3	-	4	813	c.458G>A	c.(457-459)cGc>cAc	p.R153H	CRTAC1_ENST00000298819.4_Missense_Mutation_p.R153H|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R153H	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	153						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCGGTTATTGCGGAACTTGAA	0.587																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(457-459)cGc>cAc		cartilage acidic protein 1		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	114.0	87.0	96.0		458,458	5.2	1.0	10		96	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CRTAC1	NM_001206528.2,NM_018058.6	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	153/646,153/662	99683121	2,13004	2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99683121C>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.458G>A	10.37:g.99683121C>T	ENSP00000359629:p.Arg153His					CRTAC1_ENST00000298819.4_Missense_Mutation_p.R153H|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R153H	p.R153H	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	4	813	-		Colorectal(252;0.24)	153					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.458G>A	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930957	0.92389	0.0	2.33E-4	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.26991	0.0661	L	0.59912	1.85	0.80722	D	1	P;P	0.35551	0.494;0.509	B;B	0.28709	0.093;0.081	T	0.05115	-1.0905	10	0.35671	T	0.21	-17.799	18.66	0.91469	0.0:1.0:0.0:0.0	.	153;153	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	H	49;153;153;145;153	ENSP00000408445:R49H;ENSP00000359629:R153H;ENSP00000298819:R153H;ENSP00000310810:R145H;ENSP00000359623:R153H	ENSP00000298819:R153H	R	-	2	0	CRTAC1	99673111	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.552000	0.82192	2.419000	0.82065	0.563000	0.77884	CGC		0.587	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		4	114	0	0	0	1	0	4	114				
MAGI1	9223	broad.mit.edu	37	3	65346835	65346835	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr3:65346835T>C	ENST00000497477.2	-	21	3471	c.3472A>G	c.(3472-3474)Atg>Gtg	p.M1158V	MAGI1_ENST00000483466.1_Missense_Mutation_p.M1254V|MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000330909.8_Intron|RP11-88H12.2_ENST00000602316.1_RNA			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	0	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CATGGAGTCATGCCAGGGAAG	0.483																																						ENST00000483466.1																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3760-3762)Atg>Gtg		membrane associated guanylate kinase, WW and PDZ domain containing 1							120.0	109.0	113.0					3																	65346835		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65346835T>C	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3472A>G	3.37:g.65346835T>C	ENSP00000424369:p.Met1158Val					MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000330909.8_Intron|MAGI1_ENST00000497477.2_Missense_Mutation_p.M1158V	p.M1254V	NM_004742.2	NP_004733.2	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	4001	-		Lung NSC(201;0.0016)	0					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.3760A>G		.	.	.	.	.	.	.	.	.	.	T	10.24	1.294497	0.23564	.	.	ENSG00000151276	ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	T;T;T;T	0.16897	2.44;2.44;2.31;2.45	5.78	5.78	0.91487	.	.	.	.	.	T	0.11153	0.0272	N	0.14661	0.345	0.24055	N	0.996034	B;B	0.22080	0.064;0.0	B;B	0.16722	0.016;0.0	T	0.18650	-1.0330	9	0.38643	T	0.18	.	10.4597	0.44572	0.0:0.0721:0.0:0.9278	.	1158;1254	Q96QZ7-4;Q96QZ7-3	.;.	V	1129;1254;1158;1012	ENSP00000418177:M1129V;ENSP00000420323:M1254V;ENSP00000424369:M1158V;ENSP00000420796:M1012V	ENSP00000418177:M1129V	M	-	1	0	MAGI1	65321875	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.956000	0.56722	2.195000	0.70347	0.528000	0.53228	ATG		0.483	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		19	60	0	0	0	1	0	19	60				
SNHG14	104472715	broad.mit.edu	37	15	25468438	25468438	+	RNA	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr15:25468438C>T	ENST00000424208.1	+	0	6332				SNORD115-30_ENST00000364117.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-28_ENST00000363931.1_RNA|SNORD115-29_ENST00000362834.1_RNA|SNORD115-27_ENST00000364430.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GAGGTGATGACTTAAAAATCA	0.512																																						ENST00000453082.2																			0																				374.0	401.0	393.0					15																	25468438		876	1989	2865			0							g.chr15:25468438C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25468438C>T						SNORD115-29_ENST00000362834.1_RNA		NR_003343.1						0	885	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.512	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			14	474	0	0	0	1	0	14	474				
MIR34A	407040	broad.mit.edu	37	1	9211728	9211728	+	RNA	SNP	G	G	C			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr1:9211728G>C	ENST00000385130.1	-	0	108					NR_029610.1				microRNA 34a																		TTCCCTCTTGGGCCCCACAAC	0.552																																						ENST00000385130.1																			0																				302.0	275.0	283.0					1																	9211728		1568	3582	5150			0							g.chr1:9211728G>C			1p36.22|1p36.22	2011-09-12		2008-12-18	ENSG00000207865	ENSG00000207865		"""ncRNAs / Micro RNAs"""	31635	non-coding RNA	RNA, micro		611172		MIRN34A			Standard	NR_029610		Approved	hsa-mir-34a					1.37:g.9211728G>C								NR_029610.1						0	108	-									RNA	SNP	ENST00000385130.1	37																																																																																						0.552	MIR34A-201	KNOWN	basic	miRNA	miRNA		NR_029610		11	428	0	0	0	1	0	11	428				
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs62538181|rs200215881		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(3739-3741)atG>atC		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43915893G>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.3741G>C	9.37:g.43915893G>C	ENSP00000366787:p.Met1247Ile						p.M1247I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			23	4134	+			1247					B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.3741G>C	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614036	0.03690	.	.	ENSG00000154529	ENST00000377564;ENST00000377555	T	0.23552	1.9	2.87	-2.82	0.05787	.	.	.	.	.	T	0.03053	0.0090	N	0.00018	-2.82	0.09310	P	0.9999999999977237	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	8	0.11794	T	0.64	.	7.2283	0.26028	0.0:0.1691:0.1448:0.6861	.	161	E9PBG0	.	I	1247;161	ENSP00000366787:M1247I	ENSP00000366778:M161I	M	+	3	0	CNTNAP3B	43855889	0.990000	0.36364	0.901000	0.35422	0.347000	0.29111	0.022000	0.13511	-1.052000	0.03222	-2.091000	0.00372	ATG		0.433	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			3	33	0	0	0	1	0	3	33				
BRPF3	27154	broad.mit.edu	37	6	36169409	36169409	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr6:36169409T>G	ENST00000357641.6	+	2	1563	c.1310T>G	c.(1309-1311)gTg>gGg	p.V437G	BRPF3_ENST00000534400.1_Missense_Mutation_p.V437G|BRPF3_ENST00000339717.7_Missense_Mutation_p.V437G|BRPF3_ENST00000543502.1_Missense_Mutation_p.V437G|BRPF3_ENST00000443324.2_Missense_Mutation_p.V437G|BRPF3_ENST00000534694.1_Missense_Mutation_p.V437G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	437					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAAGGCGGGGTGAGTGGCTCC	0.547																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(1309-1311)gTg>gGg		bromodomain and PHD finger containing, 3							78.0	82.0	81.0					6																	36169409		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36169409T>G	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1310T>G	6.37:g.36169409T>G	ENSP00000350267:p.Val437Gly					BRPF3_ENST00000339717.7_Missense_Mutation_p.V437G|BRPF3_ENST00000543502.1_Missense_Mutation_p.V437G|BRPF3_ENST00000534694.1_Missense_Mutation_p.V437G|BRPF3_ENST00000443324.2_Missense_Mutation_p.V437G|BRPF3_ENST00000534400.1_Missense_Mutation_p.V437G	p.V437G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			2	1563	+			437					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.1310T>G	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	T	0.784	-0.761217	0.02996	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T	0.16196	2.55;2.47;2.47;2.47;2.47;2.36	5.39	0.376	0.16193	.	1.130890	0.06499	N	0.735957	T	0.01870	0.0059	N	0.04508	-0.205	0.18873	N	0.999981	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46091	-0.9216	10	0.22706	T	0.39	.	4.7221	0.12924	0.159:0.4172:0.0:0.4238	.	437;437;437	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	G	437	ENSP00000350267:V437G;ENSP00000345419:V437G;ENSP00000434501:V437G;ENSP00000445352:V437G;ENSP00000387368:V437G;ENSP00000436504:V437G	ENSP00000345419:V437G	V	+	2	0	BRPF3	36277387	0.531000	0.26338	0.547000	0.28179	0.442000	0.32017	0.263000	0.18478	0.117000	0.18138	0.459000	0.35465	GTG		0.547	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		8	35	0	0	0	1	0	8	35				
ATRX	546	broad.mit.edu	37	X	76938788	76938788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chrX:76938788G>A	ENST00000373344.5	-	9	2174	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R616*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	654					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						GGGGATCTTCGAAGATCAGAT	0.393			"""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.(1960-1962)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						130.0	138.0	135.0					X																	76938788		2203	4291	6494	SO:0001587	stop_gained	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:76938788G>A	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.1960C>T	X.37:g.76938788G>A	ENSP00000362441:p.Arg654*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.R616*|ATRX_ENST00000480283.1_5'UTR	p.R654*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2174	-			654					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.1960C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.694384	0.98438	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.33	3.4	0.38934	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0998	12.9298	0.58280	0.0:0.0:0.4977:0.5023	.	.	.	.	X	654;616;581	.	ENSP00000362441:R654X	R	-	1	2	ATRX	76825444	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.691000	0.37721	0.971000	0.38288	0.513000	0.50165	CGA		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		88	40	0	0	0	1	0	88	40				
TTN	7273	broad.mit.edu	37	2	179412203	179412203	+	Missense_Mutation	SNP	T	T	G	rs369254232		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:179412203T>G	ENST00000591111.1	-	289	89451	c.89227A>C	c.(89227-89229)Agt>Cgt	p.S29743R	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S28816R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22444R|TTN_ENST00000460472.2_Missense_Mutation_p.S22319R|TTN_ENST00000342175.6_Missense_Mutation_p.S22511R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S31384R			Q8WZ42	TITIN_HUMAN	titin	29743	Fibronectin type-III 116. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCTGAACTGACACGGAAA	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(94150-94152)Agt>Cgt		titin							46.0	43.0	44.0					2																	179412203		1854	4104	5958	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412203T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89227A>C	2.37:g.179412203T>G	ENSP00000465570:p.Ser29743Arg					TTN_ENST00000342992.6_Missense_Mutation_p.S28816R|TTN_ENST00000342175.6_Missense_Mutation_p.S22511R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S29743R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22444R|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22319R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.S31384R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	94374	-			29743			Fibronectin type-III 129.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.94150A>C		.	.	.	.	.	.	.	.	.	.	T	14.87	2.664458	0.47572	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	6.03	4.82	0.62117	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37625	0.1010	N	0.03238	-0.38	0.42845	D	0.994068	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.48598	0.583;0.583;0.583;0.583	T	0.50250	-0.8850	9	0.87932	D	0	.	12.2411	0.54541	0.1273:0.0:0.0:0.8727	.	22319;22444;22511;29743	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	28816;22319;22511;22444;22316	ENSP00000343764:S28816R;ENSP00000434586:S22319R;ENSP00000340554:S22511R;ENSP00000352154:S22444R	ENSP00000340554:S22511R	S	-	1	0	TTN	179120449	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.956000	0.63645	2.302000	0.77476	0.533000	0.62120	AGT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	12	0	0	0	1	0	5	12				
BAGE2	85319	broad.mit.edu	37	21	11038930	11038930	+	RNA	SNP	G	G	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr21:11038930G>T	ENST00000470054.1	-	0	1273							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATCTGCCTTGCTTATGTCTG	0.428																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038930G>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038930G>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1273	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.428	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		21	528	1	0	4.59853e-10	1	4.96641e-10	21	528				
NYNRIN	57523	broad.mit.edu	37	14	24884572	24884572	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr14:24884572G>A	ENST00000382554.3	+	9	3935	c.3617G>A	c.(3616-3618)gGt>gAt	p.G1206D		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1206					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAGTCAGGGGGTGACAGCCCC	0.617																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3616-3618)gGt>gAt		NYN domain and retroviral integrase containing							65.0	70.0	69.0					14																	24884572		1910	4106	6016	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884572G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3617G>A	14.37:g.24884572G>A	ENSP00000371994:p.Gly1206Asp						p.G1206D	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	3935	+			1206					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3617G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083763	0.55861	.	.	ENSG00000205978	ENST00000382554	T	0.09445	2.98	4.6	4.6	0.57074	.	.	.	.	.	T	0.20129	0.0484	L	0.27053	0.805	0.30574	N	0.76318	D	0.89917	1.0	D	0.72075	0.976	T	0.02126	-1.1209	9	0.52906	T	0.07	.	12.7777	0.57457	0.0:0.0:1.0:0.0	.	1206	Q9P2P1	NYNRI_HUMAN	D	1206	ENSP00000371994:G1206D	ENSP00000371994:G1206D	G	+	2	0	NYNRIN	23954412	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.387000	0.59626	2.371000	0.80710	0.655000	0.94253	GGT		0.617	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			63	96	0	0	0	1	0	63	96				
ALG1L2	644974	broad.mit.edu	37	3	129817127	129817127	+	RNA	SNP	A	A	C			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr3:129817127A>C	ENST00000507643.1	+	0	709				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										CCAGTTCCGGAAGAACCTGCG	0.522																																						ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129817127A>C	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129817127A>C										C9J202	AG1L2_HUMAN			0	709	+									RNA	SNP	ENST00000507643.1	37																																																																																						0.522	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		3	52	0	0	0	1	0	3	52				
PITRM1	10531	broad.mit.edu	37	10	3190474	3190474	+	Silent	SNP	G	G	A	rs372900610		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:3190474G>A	ENST00000224949.4	-	17	1915	c.1881C>T	c.(1879-1881)tgC>tgT	p.C627C	PITRM1_ENST00000380989.2_Silent_p.C627C|PITRM1_ENST00000380994.1_Silent_p.C185C|PITRM1_ENST00000451104.2_Intron|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	627					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CAAGAAGGCCGCAGCCCAGCC	0.517																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(1879-1881)tgC>tgT		pitrilysin metallopeptidase 1		G	,,	1,4043		0,1,2021	58.0	65.0	62.0		1881,,1881	-7.3	0.6	10		62	0,8358		0,0,4179	no	coding-synonymous,intron,coding-synonymous	PITRM1	NM_001242307.1,NM_001242309.1,NM_014889.3	,,	0,1,6200	AA,AG,GG		0.0,0.0247,0.0081	,,	627/1039,,627/1038	3190474	1,12401	2022	4179	6201	SO:0001819	synonymous_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3190474G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1881C>T	10.37:g.3190474G>A						PITRM1_ENST00000224949.4_Silent_p.C627C|PITRM1_ENST00000380994.1_Silent_p.C185C|PITRM1_ENST00000451104.2_Intron|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000601046.1_RNA	p.C627C	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			17	1919	-			0					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.1881C>T	CCDS59208.1																																																																																				0.517	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			4	145	0	0	0	1	0	4	145				
FAM81B	153643	broad.mit.edu	37	5	94749873	94749873	+	Silent	SNP	A	A	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr5:94749873A>G	ENST00000283357.5	+	4	562	c.516A>G	c.(514-516)aaA>aaG	p.K172K		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	172						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GCATCGTCAAAAAACTCAGCC	0.418																																						ENST00000283357.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(514-516)aaA>aaG		family with sequence similarity 81, member B							94.0	91.0	92.0					5																	94749873		1912	4132	6044	SO:0001819	synonymous_variant	153643							g.chr5:94749873A>G		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.516A>G	5.37:g.94749873A>G							p.K172K	NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	4	562	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	172						Silent	SNP	ENST00000283357.5	37	c.516A>G	CCDS43341.1																																																																																				0.418	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		4	92	0	0	0	1	0	4	92				
TFAP4	7023	broad.mit.edu	37	16	4308138	4308138	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr16:4308138G>A	ENST00000204517.6	-	7	1263	c.935C>T	c.(934-936)aCc>aTc	p.T312I		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	312					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GTCGGAGGCGGTGTCAGAGGT	0.692																																						ENST00000204517.6																			0				NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(934-936)aCc>aTc		transcription factor AP-4 (activating enhancer binding protein 4)							31.0	35.0	34.0					16																	4308138		2197	4298	6495	SO:0001583	missense	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4308138G>A	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.935C>T	16.37:g.4308138G>A	ENSP00000204517:p.Thr312Ile						p.T312I	NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN			7	1263	-			312					O60409	Missense_Mutation	SNP	ENST00000204517.6	37	c.935C>T	CCDS10510.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982744	0.74474	.	.	ENSG00000090447	ENST00000204517	D	0.99220	-5.58	4.57	4.57	0.56435	.	0.067147	0.56097	D	0.000021	D	0.98191	0.9402	L	0.57536	1.79	0.53688	D	0.999977	P	0.45348	0.856	B	0.40444	0.329	D	0.99881	1.1113	10	0.87932	D	0	.	17.2038	0.86913	0.0:0.0:1.0:0.0	.	312	Q01664	TFAP4_HUMAN	I	312	ENSP00000204517:T312I	ENSP00000204517:T312I	T	-	2	0	TFAP4	4248139	1.000000	0.71417	0.902000	0.35471	0.705000	0.40729	9.037000	0.93765	2.376000	0.81061	0.585000	0.79938	ACC		0.692	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		5	85	0	0	0	1	0	5	85				
COL17A1	1308	broad.mit.edu	37	10	105836081	105836081	+	Silent	SNP	G	G	A	rs202120590		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:105836081G>A	ENST00000353479.5	-	5	599	c.309C>T	c.(307-309)caC>caT	p.H103H	COL17A1_ENST00000369733.3_Silent_p.H103H|COL17A1_ENST00000393211.3_Silent_p.H103H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	103	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGCGGGTAACGTGAGTTTTCC	0.507																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(307-309)caC>caT		collagen, type XVII, alpha 1							200.0	198.0	199.0					10																	105836081		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105836081G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.309C>T	10.37:g.105836081G>A						COL17A1_ENST00000393211.3_Silent_p.H103H|COL17A1_ENST00000369733.3_Silent_p.H103H	p.H103H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	5	599	-		Colorectal(252;0.103)|Breast(234;0.122)	103			Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.309C>T	CCDS7554.1																																																																																				0.507	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		6	156	0	0	0	1	0	6	156				
ACACA	31	broad.mit.edu	37	17	35545360	35545360	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:35545360C>T	ENST00000394406.2	-	39	4712	c.4522G>A	c.(4522-4524)Gtc>Atc	p.V1508I	ACACA_ENST00000335166.5_Missense_Mutation_p.V1430I|ACACA_ENST00000360679.3_Missense_Mutation_p.V1450I|ACACA_ENST00000353139.5_Missense_Mutation_p.V1545I	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1508					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCCTGGAGGACGCGCAATTTC	0.483																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(4633-4635)Gtc>Atc		acetyl-CoA carboxylase alpha	Biotin(DB00121)						191.0	171.0	177.0					17																	35545360		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35545360C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4522G>A	17.37:g.35545360C>T	ENSP00000377928:p.Val1508Ile					ACACA_ENST00000394406.2_Missense_Mutation_p.V1508I|ACACA_ENST00000360679.3_Missense_Mutation_p.V1450I|ACACA_ENST00000335166.5_Missense_Mutation_p.V1430I	p.V1545I	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			39	5114	-		Breast(25;0.00157)|Ovarian(249;0.15)	1508					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.4633G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961595	0.92791	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.49	5.49	0.81192	Acetyl-CoA carboxylase, central domain (1);	0.060935	0.64402	D	0.000005	T	0.78578	0.4305	M	0.83953	2.67	0.80722	D	1	D;D;D;P	0.58970	0.984;0.979;0.959;0.891	P;P;P;B	0.51866	0.682;0.643;0.604;0.351	T	0.80509	-0.1351	10	0.46703	T	0.11	-16.66	18.9743	0.92730	0.0:1.0:0.0:0.0	.	256;1545;1508;1450	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	I	1545;1450;1508;1532;1430;256	ENSP00000344789:V1545I;ENSP00000353898:V1450I;ENSP00000377928:V1508I;ENSP00000335323:V1430I	ENSP00000335323:V1430I	V	-	1	0	ACACA	32619473	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.772000	0.85439	2.559000	0.86315	0.655000	0.94253	GTC		0.483	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		20	61	0	0	0	1	0	20	61				
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G	rs544520355	byFrequency	TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000344721.4_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14.0	17.0	16.0					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000511528.1_Silent_p.P701P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000342437.4_Intron	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			4	9	0	0	0	1	0	4	9				
AUNIP	79000	broad.mit.edu	37	1	26186960	26186960	+	5'Flank	DEL	T	T	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr1:26186960delT	ENST00000374298.3	-	0	0				AUNIP_ENST00000538789.1_5'Flank|RP1-125I3.2_ENST00000455431.1_RNA	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein						spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											AATTTTGTAATTTTTTTTTTT	0.552																																						ENST00000455431.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr1:26186960delT		CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372		1.37:g.26186960delT	Exception_encountered													0	263	+								C9EI59|Q53F70	RNA	DEL	ENST00000374298.3	37		CCDS266.1																																																																																				0.552	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2	NM_024037		2	4						2	4	---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-	rs143136196|rs376331360|rs189081489|rs539310988	byFrequency	TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			1	Deletion - In frame(1)	p.E716delE(1)	liver(1)	NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2146-2151)gct>g		protein tyrosine phosphatase, non-receptor type 14																																				SO:0001651	inframe_deletion	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557049_214557051delCCT	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2147_2149delAGG	1.37:g.214557058_214557060delCCT	ENSP00000355923:p.Glu716del					PTPN14_ENST00000543945.1_3'UTR	p.EA716del	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2341_2343	-			716			Poly-Glu.		Q5VSI0	In_Frame_Del	DEL	ENST00000366956.5	37	c.2147_2149delAGG	CCDS1514.1																																																																																				0.626	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		10	110						10	110	---	---	---	---
HTRA2	27429	broad.mit.edu	37	2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(52-54)ggcfs		HtrA serine peptidase 2																																				SO:0001589	frameshift_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757185_74757186insG		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.55dupG	2.37:g.74757188_74757188dupG	ENSP00000258080:p.Arg18fs					HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs	p.G18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			1	682_683	+			18					Q9HBZ4|Q9P0Y3|Q9P0Y4	Frame_Shift_Ins	INS	ENST00000258080.3	37	c.52_53insG	CCDS1951.1																																																																																				0.718	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		11	139						11	139	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134072551	134072551	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr4:134072551delC	ENST00000264360.5	+	1	2082	c.1256delC	c.(1255-1257)gccfs	p.A419fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	419	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTTACCGAAGCCCCCCTGGAC	0.592																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1255-1257)gcfs		protocadherin 10							152.0	166.0	161.0					4																	134072551		2203	4300	6503	SO:0001589	frameshift_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072551delC	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1256delC	4.37:g.134072551delC	ENSP00000264360:p.Ala419fs						p.A419fs	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2082	+			419			Cadherin 4.		Q4W5F6|Q96SF0	Frame_Shift_Del	DEL	ENST00000264360.5	37	c.1256delC	CCDS34063.1																																																																																				0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		7	429						7	429	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000375349.3_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000478221.1_5'UTR	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			12	193						12	193	---	---	---	---
ATP8B5P	158381	broad.mit.edu	37	9	35450419	35450420	+	RNA	INS	-	-	C			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr9:35450419_35450420insC	ENST00000430846.1	+	0	3269_3270									ATPase, class I, type 8B, member 5, pseudogene																		GGTTTTTTTTTCCCTAGTCATT	0.342																																						ENST00000430846.1																			0																																																			0							g.chr9:35450419_35450420insC			9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35450422_35450422dupC														0	3269_3270	+									RNA	INS	ENST00000430846.1	37																																																																																						0.342	ATP8B5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052312.1	NR_003581.1		2	4						2	4	---	---	---	---
LRFN4	78999	broad.mit.edu	37	11	66627620	66627620	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr11:66627620delG	ENST00000309602.4	+	2	2105	c.1862delG	c.(1861-1863)cggfs	p.R621fs	PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	621						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						GCAGGGTGCCGGGGGGTAGGA	0.692																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(1861-1863)cgfs		leucine rich repeat and fibronectin type III domain containing 4							8.0	12.0	11.0					11																	66627620		1948	3901	5849	SO:0001589	frameshift_variant	78999					integral to membrane		g.chr11:66627620delG	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1862delG	11.37:g.66627620delG	ENSP00000312535:p.Arg621fs					LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron	p.R621fs	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			2	2105	+			621					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Frame_Shift_Del	DEL	ENST00000309602.4	37	c.1862delG	CCDS8153.1																																																																																				0.692	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		2	4						2	4	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-	rs376589131		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr13:25671273delG	ENST00000281589.3	+	1	974	c.937delG	c.(937-939)gcgfs	p.A313fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(937-939)cgfs		poly(A) binding protein, cytoplasmic 3							213.0	213.0	213.0					13																	25671273		2203	4300	6503	SO:0001589	frameshift_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671273delG	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.937delG	13.37:g.25671273delG	ENSP00000281589:p.Ala313fs						p.A313fs	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	974	+		Lung SC(185;0.0225)|Breast(139;0.0602)	313			RRM 4.		Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	c.937delG	CCDS9311.1																																																																																				0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		7	329						7	329	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23333802	23333802	+	RNA	DEL	A	A	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr15:23333802delA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		CTTACAGTTCAAAAAAAAAAA	0.443																																						ENST00000560464.1																			0																																																			0							g.chr15:23333802delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23333802delA														0	908	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.443	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	6						3	6	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577157	7577158	+	Splice_Site	DEL	TA	TA	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:7577157_7577158delTA	ENST00000269305.4	-	8	972		c.e8-2		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank	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						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.?(12)|p.0?(8)|p.E258fs*71(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)	AGATTACCACTACTCAGGATAG	0.515		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		21	Unknown(12)|Whole gene deletion(8)|Deletion - Frameshift(1)	p.?(12)|p.0?(8)|p.E258fs*71(1)	lung(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|ovary(2)|urinary_tract(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e8-2	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001630	splice_region_variant	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.chr17:7577157_7577158delTA	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.783-2TA>-	17.37:g.7577157_7577158delTA		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_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site		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	915	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	DEL	ENST00000269305.4	37		CCDS11118.1																																																																																				0.515	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	3	6						3	6	---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50155916	50155918	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr19:50155916_50155918delCCT	ENST00000360565.3	+	7	2394_2396	c.2270_2272delCCT	c.(2269-2274)gcctcc>gcc	p.S763del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	763	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCGGGGGCCGCCTCCTCCTCCTC	0.69																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(2269-2274)gcc>g		SR-related CTD-associated factor 1				77,3773		7,63,1855						2.4	0.3			7	232,7408		7,218,3595	no	coding	SCAF1	NM_021228.2		14,281,5450	A1A1,A1R,RR		3.0366,2.0,2.6893				309,11181				SO:0001651	inframe_deletion	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50155916_50155918delCCT	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.2270_2272delCCT	19.37:g.50155925_50155927delCCT	ENSP00000353769:p.Ser763del						p.AS757del	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2394_2396	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	757			Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	In_Frame_Del	DEL	ENST00000360565.3	37	c.2270_2272delCCT	CCDS33074.1																																																																																				0.690	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		3	3						3	3	---	---	---	---
PI4KAP1	728233	broad.mit.edu	37	22	20393578	20393578	+	RNA	DEL	T	T	-			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr22:20393578delT	ENST00000430523.3	-	0	703					NR_003563.1		Q8N8J0	PI4P1_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)												ACAAGCCTTCTTTCTCTGGTC	0.602																																						ENST00000430523.3																			0																																																			0							g.chr22:20393578delT			22q11.21	2007-08-14	2007-08-14			ENSG00000274602			33576	pseudogene	pseudogene							Standard	NR_003563		Approved		uc010gsg.2	Q8N8J0			22.37:g.20393578delT								NR_003563.1						0	703	-									RNA	DEL	ENST00000430523.3	37																																																																																						0.602	PI4KAP1-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319534.5			2	4						2	4	---	---	---	---
