#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TFAP2E	339488	broad.mit.edu	37	1	36055549	36055549	+	Silent	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:36055549G>A	ENST00000373235.3	+	5	1012	c.804G>A	c.(802-804)ggG>ggA	p.G268G		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCAAAAATGGGGGCCGGTGTT	0.547																																						ENST00000373235.3																			0				endometrium(1)|large_intestine(1)	2						c.(802-804)ggG>ggA		transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)							75.0	69.0	71.0					1																	36055549		2203	4300	6503	SO:0001819	synonymous_variant	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36055549G>A	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.804G>A	1.37:g.36055549G>A			Somatic					p.G268G	NM_178548.3	NP_848643.2	WXS	Illumina GAIIx	Phase_I	Q6VUC0	AP2E_HUMAN			5	1012	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	268						Silent	SNP	ENST00000373235.3	37	c.804G>A	CCDS393.2																																																																																				0.547	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		7	51	7	51	---	---	---	---
FAM102B	284611	broad.mit.edu	37	1	109170825	109170825	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:109170825T>G	ENST00000370035.3	+	7	933	c.593T>G	c.(592-594)cTt>cGt	p.L198R	FAM102B_ENST00000405454.1_Missense_Mutation_p.L198R	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	198										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CCAGACGAACTTGGTGCCTGT	0.378																																						ENST00000370035.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.(592-594)cTt>cGt		family with sequence similarity 102, member B							108.0	98.0	101.0					1																	109170825		2203	4300	6503	SO:0001583	missense	284611							g.chr1:109170825T>G	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.593T>G	1.37:g.109170825T>G	ENSP00000359052:p.Leu198Arg		Somatic				FAM102B_ENST00000405454.1_Missense_Mutation_p.L198R	p.L198R	NM_001010883.2	NP_001010883.2	WXS	Illumina GAIIx	Phase_I	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	7	933	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	198					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	ENST00000370035.3	37	c.593T>G	CCDS30786.2	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224640	0.79576	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	.	.	.	5.41	5.41	0.78517	.	0.060632	0.64402	D	0.000004	T	0.57066	0.2028	M	0.63428	1.95	0.58432	D	0.999997	P	0.52170	0.951	P	0.54706	0.759	T	0.55692	-0.8101	9	0.26408	T	0.33	-10.1757	15.4332	0.75121	0.0:0.0:0.0:1.0	.	198	Q5T8I3	F102B_HUMAN	R	198	.	ENSP00000359052:L198R	L	+	2	0	FAM102B	108972348	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.499000	0.81566	2.041000	0.60428	0.533000	0.62120	CTT		0.378	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		30	41	30	41	---	---	---	---
IER5	51278	broad.mit.edu	37	1	181058365	181058365	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr1:181058365C>G	ENST00000367577.4	+	1	728	c.327C>G	c.(325-327)gaC>gaG	p.D109E	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	109										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						CCGTCTCAGACGCGCCGCGGG	0.761																																						ENST00000367577.4																			0				lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						c.(325-327)gaC>gaG		immediate early response 5							13.0	15.0	14.0					1																	181058365		2152	4228	6380	SO:0001583	missense	51278							g.chr1:181058365C>G	BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.327C>G	1.37:g.181058365C>G	ENSP00000356549:p.Asp109Glu		Somatic					p.D109E	NM_016545.4	NP_057629.2	WXS	Illumina GAIIx	Phase_I	Q5VY09	IER5_HUMAN			1	728	+			109					B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Missense_Mutation	SNP	ENST00000367577.4	37	c.327C>G	CCDS1343.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.295378	0.00245	.	.	ENSG00000162783	ENST00000367577;ENST00000545568	T	0.08546	3.08	3.53	-0.00676	0.14011	.	2.669490	0.02641	N	0.105379	T	0.02807	0.0084	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38156	-0.9674	10	0.02654	T	1	.	6.6444	0.22927	0.1921:0.4663:0.3415:0.0	.	109	Q5VY09	IER5_HUMAN	E	109	ENSP00000356549:D109E	ENSP00000356549:D109E	D	+	3	2	IER5	179324988	0.010000	0.17322	0.001000	0.08648	0.006000	0.05464	-0.124000	0.10595	0.103000	0.17682	-0.506000	0.04501	GAC		0.761	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085142.1	NM_016545		4	13	4	13	---	---	---	---
CNPPD1	27013	broad.mit.edu	37	2	220038176	220038176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr2:220038176G>A	ENST00000409789.1	-	8	1013	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	CNPPD1_ENST00000360507.5_Nonsense_Mutation_p.Q196*			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	196					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CACCGTCCCTGCTGCTCAGCC	0.627																																						ENST00000409789.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						c.(586-588)Cag>Tag		cyclin Pas1/PHO80 domain containing 1							43.0	42.0	42.0					2																	220038176		2203	4300	6503	SO:0001587	stop_gained	27013				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding	g.chr2:220038176G>A	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 24"""	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.586C>T	2.37:g.220038176G>A	ENSP00000386277:p.Gln196*		Somatic				CNPPD1_ENST00000360507.5_Nonsense_Mutation_p.Q196*	p.Q196*			WXS	Illumina GAIIx	Phase_I	Q9BV87	CNPD1_HUMAN			8	1013	-			196					B2RC77|O75548|Q9H4N0|Q9UQN0	Nonsense_Mutation	SNP	ENST00000409789.1	37	c.586C>T	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	G	39	7.690335	0.98434	.	.	ENSG00000115649	ENST00000360507;ENST00000409789;ENST00000453038;ENST00000451647	.	.	.	5.03	5.03	0.67393	.	0.111171	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-17.9237	17.2851	0.87139	0.0:0.0:1.0:0.0	.	.	.	.	X	196;196;196;223	.	ENSP00000353698:Q196X	Q	-	1	0	CNPPD1	219746420	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.509000	0.98002	2.607000	0.88179	0.591000	0.81541	CAG		0.627	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680		14	29	14	29	---	---	---	---
TRIM35	23087	broad.mit.edu	37	8	27151801	27151801	+	Silent	SNP	C	C	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr8:27151801C>A	ENST00000305364.4	-	3	641	c.558G>T	c.(556-558)cgG>cgT	p.R186R	TRIM35_ENST00000521253.1_Silent_p.R154R	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	186					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CCTGCCGGATCCGGCCTTCCA	0.562																																						ENST00000305364.4																			0				breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14						c.(556-558)cgG>cgT		tripartite motif containing 35							38.0	34.0	35.0					8																	27151801		2203	4300	6503	SO:0001819	synonymous_variant	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27151801C>A	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.558G>T	8.37:g.27151801C>A			Somatic				TRIM35_ENST00000521253.1_Silent_p.R154R	p.R186R	NM_171982.3	NP_741983.2	WXS	Illumina GAIIx	Phase_I	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	3	641	-		Ovarian(32;2.61e-05)	186					Q86XQ0|Q8WVA4	Silent	SNP	ENST00000305364.4	37	c.558G>T	CCDS6056.2																																																																																				0.562	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982		3	19	3	19	---	---	---	---
OR13C3	138803	broad.mit.edu	37	9	107298274	107298274	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr9:107298274T>A	ENST00000374781.2	-	1	863	c.821A>T	c.(820-822)cAc>cTc	p.H274L		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CACAGTCAGGTGAGCTGAGCA	0.423																																					GBM(86;1248 1274 14222 15028 46219)	ENST00000374781.2																			0				endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						c.(820-822)cAc>cTc		olfactory receptor, family 13, subfamily C, member 3							134.0	126.0	128.0					9																	107298274		2203	4300	6503	SO:0001583	missense	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298274T>A		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.821A>T	9.37:g.107298274T>A	ENSP00000363913:p.His274Leu		Somatic					p.H274L	NM_001001961.1	NP_001001961.1	WXS	Illumina GAIIx	Phase_I	Q8NGS6	O13C3_HUMAN			1	863	-			274					Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	c.821A>T	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195359	0.78902	.	.	ENSG00000204246	ENST00000374781	T	0.00307	8.17	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000223	T	0.01489	0.0048	H	0.99726	4.73	0.42855	D	0.994091	D	0.89917	1.0	D	0.77004	0.989	T	0.01015	-1.1480	10	0.87932	D	0	.	12.1618	0.54107	0.0:0.0:0.0:1.0	.	274	Q8NGS6	O13C3_HUMAN	L	274	ENSP00000363913:H274L	ENSP00000363913:H274L	H	-	2	0	OR13C3	106338095	1.000000	0.71417	0.926000	0.36857	0.979000	0.70002	7.745000	0.85046	2.030000	0.59900	0.533000	0.62120	CAC		0.423	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2			54	108	54	108	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18250534	18250534	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr10:18250534C>A	ENST00000377369.2	+	3	559	c.286C>A	c.(286-288)Cta>Ata	p.L96I	SLC39A12_ENST00000377371.3_Missense_Mutation_p.L96I|SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L96I	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	96					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGCACTATTACTAATAGCTGG	0.373																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(286-288)Cta>Ata		solute carrier family 39 (zinc transporter), member 12							72.0	76.0	75.0					10																	18250534		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18250534C>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.286C>A	10.37:g.18250534C>A	ENSP00000366586:p.Leu96Ile		Somatic				SLC39A12_ENST00000377374.4_Missense_Mutation_p.L96I|SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L96I	p.L96I	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	WXS	Illumina GAIIx	Phase_I	Q504Y0	S39AC_HUMAN			3	559	+			96					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.286C>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.973826	0.53720	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000425219	T;T;T	0.22945	1.93;1.93;1.93	5.43	4.53	0.55603	.	0.360360	0.28453	N	0.015284	T	0.39835	0.1093	M	0.72118	2.19	0.80722	D	1	D;D;D	0.58268	0.982;0.969;0.982	P;P;P	0.56751	0.805;0.643;0.703	T	0.17684	-1.0361	10	0.34782	T	0.22	-9.8413	8.4778	0.33023	0.0:0.7691:0.0:0.2309	.	96;96;96	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	I	96;96;96;16	ENSP00000366586:L96I;ENSP00000366591:L96I;ENSP00000366588:L96I	ENSP00000366586:L96I	L	+	1	2	SLC39A12	18290540	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	1.028000	0.30128	1.285000	0.44548	0.650000	0.86243	CTA		0.373	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		36	61	36	61	---	---	---	---
RET	5979	broad.mit.edu	37	10	43622119	43622119	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr10:43622119G>T	ENST00000355710.3	+	19	3368	c.3136G>T	c.(3136-3138)Gcc>Tcc	p.A1046S	RET_ENST00000340058.5_Missense_Mutation_p.A1046S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1046					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTGTAATAATGCCCCCCTCCC	0.527		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(3136-3138)Gcc>Tcc		ret proto-oncogene	Sunitinib(DB01268)						112.0	108.0	109.0					10																	43622119		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43622119G>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3136G>T	10.37:g.43622119G>T	ENSP00000347942:p.Ala1046Ser		Somatic				RET_ENST00000340058.5_Missense_Mutation_p.A1046S	p.A1046S	NM_020975.4	NP_066124.1	WXS	Illumina GAIIx	Phase_I	P07949	RET_HUMAN			19	3368	+		Ovarian(717;0.0423)	1046					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.3136G>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067657	0.55539	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.79749	-1.22;-1.3	5.09	3.24	0.37175	.	0.049512	0.85682	D	0.000000	T	0.68851	0.3046	N	0.24115	0.695	0.58432	D	0.999995	B;B;P	0.34815	0.017;0.339;0.47	B;B;B	0.35353	0.027;0.099;0.201	T	0.67891	-0.5553	10	0.72032	D	0.01	.	11.3396	0.49525	0.1475:0.0:0.8525:0.0	.	792;1046;1046	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	S	1046	ENSP00000347942:A1046S;ENSP00000344798:A1046S	ENSP00000344798:A1046S	A	+	1	0	RET	42942125	1.000000	0.71417	0.934000	0.37439	0.975000	0.68041	5.742000	0.68646	0.562000	0.29204	0.655000	0.94253	GCC		0.527	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		36	55	36	55	---	---	---	---
SLC22A10	387775	broad.mit.edu	37	11	63065162	63065162	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr11:63065162G>A	ENST00000332793.6	+	4	795	c.793G>A	c.(793-795)Gcg>Acg	p.A265T	SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_Missense_Mutation_p.A110T|SLC22A10_ENST00000535888.1_Missense_Mutation_p.A55T	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	265						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	GCACGTGGTGGCGTCTGTACC	0.453																																						ENST00000544661.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(328-330)Gcg>Acg		solute carrier family 22, member 10							169.0	158.0	161.0					11																	63065162		1951	4134	6085	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63065162G>A	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.793G>A	11.37:g.63065162G>A	ENSP00000327569:p.Ala265Thr		Somatic				SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Missense_Mutation_p.A55T|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.A265T	p.A110T			WXS	Illumina GAIIx	Phase_I	Q63ZE4	S22AA_HUMAN			5	756	+			265					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.328G>A	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509791	0.44660	.	.	ENSG00000184999	ENST00000535888;ENST00000544661;ENST00000332793	T;T;T	0.74106	-0.81;-0.81;-0.81	3.0	-3.72	0.04411	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.375070	0.24001	U	0.042478	T	0.42314	0.1197	N	0.02539	-0.55	0.09310	N	1	B	0.20052	0.041	B	0.29524	0.103	T	0.31971	-0.9924	10	0.52906	T	0.07	.	3.8556	0.08974	0.1882:0.0:0.3208:0.491	.	265	Q63ZE4	S22AA_HUMAN	T	55;110;265	ENSP00000444602:A55T;ENSP00000445667:A110T;ENSP00000327569:A265T	ENSP00000327569:A265T	A	+	1	0	SLC22A10	62821738	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	-0.332000	0.07904	-0.996000	0.03455	0.447000	0.29281	GCG		0.453	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		40	75	40	75	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14798210	14798210	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:14798210A>C	ENST00000261170.3	-	16	1886	c.1750T>G	c.(1750-1752)Ttc>Gtc	p.F584V		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	584	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CAATCCATGAATGTGCCATCA	0.333																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1750-1752)Ttc>Gtc		guanylate cyclase 2C (heat stable enterotoxin receptor)							117.0	117.0	117.0					12																	14798210		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14798210A>C		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1750T>G	12.37:g.14798210A>C	ENSP00000261170:p.Phe584Val		Somatic					p.F584V	NM_004963.3	NP_004954.2	WXS	Illumina GAIIx	Phase_I	P25092	GUC2C_HUMAN			16	1886	-			584			Protein kinase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1750T>G	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.879294	0.72294	.	.	ENSG00000070019	ENST00000261170	D	0.81996	-1.56	5.21	5.21	0.72293	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	N	0.25647	0.755	0.80722	D	1	B	0.25667	0.131	B	0.34931	0.192	T	0.73943	-0.3823	10	0.35671	T	0.21	.	15.0607	0.71951	1.0:0.0:0.0:0.0	.	584	P25092	GUC2C_HUMAN	V	584	ENSP00000261170:F584V	ENSP00000261170:F584V	F	-	1	0	GUCY2C	14689477	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.507000	0.81676	1.972000	0.57404	0.496000	0.49642	TTC		0.333	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			34	78	34	78	---	---	---	---
C12orf71	728858	broad.mit.edu	37	12	27234319	27234319	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:27234319C>T	ENST00000429849.2	-	2	628	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	200										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GAAGGAGTGTCATCCTTCTCT	0.562																																						ENST00000429849.2																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						c.(598-600)Gac>Aac		chromosome 12 open reading frame 71							152.0	142.0	146.0					12																	27234319		2108	4238	6346	SO:0001583	missense	728858							g.chr12:27234319C>T		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.598G>A	12.37:g.27234319C>T	ENSP00000413728:p.Asp200Asn		Somatic					p.D200N	NM_001080406.1	NP_001073875.1	WXS	Illumina GAIIx	Phase_I	A8MTZ7	CL071_HUMAN			2	628	-			200						Missense_Mutation	SNP	ENST00000429849.2	37	c.598G>A	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535386	0.45176	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.49432	0.78	2.03	2.03	0.26663	.	.	.	.	.	T	0.41834	0.1176	L	0.29908	0.895	0.09310	N	1	D	0.61080	0.989	P	0.50231	0.635	T	0.21280	-1.0250	9	0.72032	D	0.01	.	7.5786	0.27950	0.0:1.0:0.0:0.0	.	200	A8MTZ7	CL071_HUMAN	N	232;200	ENSP00000413728:D200N	ENSP00000381796:D232N	D	-	1	0	C12orf71	27125586	0.000000	0.05858	0.164000	0.22755	0.090000	0.18270	0.459000	0.21908	1.455000	0.47813	0.407000	0.27541	GAC		0.562	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		11	74	11	74	---	---	---	---
ANKRD52	283373	broad.mit.edu	37	12	56638934	56638934	+	Silent	SNP	C	C	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:56638934C>T	ENST00000267116.7	-	22	2566	c.2445G>A	c.(2443-2445)ccG>ccA	p.P815P	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	815										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGTACGAAAACGGGCTGTGTT	0.522																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(2443-2445)ccG>ccA		ankyrin repeat domain 52							185.0	166.0	172.0					12																	56638934		2006	4189	6195	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56638934C>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2445G>A	12.37:g.56638934C>T			Somatic					p.P815P	NM_173595.3	NP_775866.2	WXS	Illumina GAIIx	Phase_I	Q8NB46	ANR52_HUMAN			22	2566	-			815					A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.2445G>A	CCDS44920.1																																																																																				0.522	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		6	141	6	141	---	---	---	---
CS	1431	broad.mit.edu	37	12	56667436	56667436	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr12:56667436A>C	ENST00000351328.3	-	10	1355	c.1165T>G	c.(1165-1167)Tta>Gta	p.L389V	CS_ENST00000548567.1_Missense_Mutation_p.L323V|CS_ENST00000542324.2_Missense_Mutation_p.L376V	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	389					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CCCTGCTCTAAGAGGACATTG	0.488																																						ENST00000548567.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17						c.(967-969)Tta>Gta		citrate synthase							123.0	104.0	110.0					12																	56667436		2203	4300	6503	SO:0001583	missense	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56667436A>C		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.1165T>G	12.37:g.56667436A>C	ENSP00000342056:p.Leu389Val		Somatic				CS_ENST00000351328.3_Missense_Mutation_p.L389V|CS_ENST00000542324.2_Missense_Mutation_p.L376V	p.L323V			WXS	Illumina GAIIx	Phase_I	O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	11	1437	-		Myeloproliferative disorder(1001;0.000374)	389					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	c.967T>G	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693233	0.48202	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000548746;ENST00000542324	.	.	.	5.69	-0.603	0.11630	Citrate synthase-like, core (1);	0.000000	0.64402	D	0.000001	T	0.60392	0.2265	M	0.88105	2.93	0.49213	D	0.99976	B;B;B	0.18310	0.027;0.007;0.027	B;B;B	0.16289	0.015;0.015;0.015	T	0.53711	-0.8400	9	0.46703	T	0.11	-2.7959	6.2129	0.20640	0.4798:0.1384:0.3818:0.0	.	376;344;389	B4DJV2;B3KTN4;O75390	.;.;CISY_HUMAN	V	323;389;62;376	.	ENSP00000342056:L389V	L	-	1	2	CS	54953703	0.998000	0.40836	0.997000	0.53966	0.979000	0.70002	2.214000	0.42853	-0.041000	0.13558	-0.313000	0.08912	TTA		0.488	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		4	66	4	66	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102442099	102442099	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr14:102442099A>G	ENST00000360184.4	+	2	471	c.307A>G	c.(307-309)Atc>Gtc	p.I103V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	103	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCCTATAACATCAACATAGA	0.279																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(307-309)Atc>Gtc		dynein, cytoplasmic 1, heavy chain 1							75.0	80.0	79.0					14																	102442099		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102442099A>G	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.307A>G	14.37:g.102442099A>G	ENSP00000348965:p.Ile103Val		Somatic					p.I103V	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			2	471	+			103			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.307A>G	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	3.829	-0.036255	0.07497	.	.	ENSG00000197102	ENST00000360184	T	0.26518	1.73	5.44	4.3	0.51218	.	0.244071	0.41605	N	0.000852	T	0.11495	0.0280	N	0.05330	-0.07	0.44395	D	0.997303	B	0.02656	0.0	B	0.01281	0.0	T	0.12760	-1.0535	10	0.15499	T	0.54	.	8.4292	0.32746	0.8492:0.0:0.1508:0.0	.	103	Q14204	DYHC1_HUMAN	V	103	ENSP00000348965:I103V	ENSP00000348965:I103V	I	+	1	0	DYNC1H1	101511852	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.912000	0.48782	0.889000	0.36185	0.383000	0.25322	ATC		0.279	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		28	45	28	45	---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1271955	1271955	+	IGR	SNP	G	G	A	rs181691054	byFrequency	TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr16:1271955G>A	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.R267C	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GTGATGTGGCGGCGGATCCAG	0.662													g|||	2	0.000399361	0.0008	0.0	5008	,	,		14103	0.0		0.001	False		,,,				2504	0.0					ENST00000234798.4																			0				liver(1)|lung(2)|skin(1)	4						c.(799-801)Cgc>Tgc		tryptase gamma 1							30.0	41.0	37.0					16																	1271955		2196	4299	6495	SO:0001628	intergenic_variant	25823				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr16:1271955G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1271955G>A			Somatic					p.R267C	NM_012467.3	NP_036599	WXS	Illumina GAIIx	Phase_I	Q9NRR2	TRYG1_HUMAN			6	803	-		Hepatocellular(780;0.00369)	267			Peptidase S1.		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.799C>T	CCDS45375.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	g	15.70	2.911474	0.52439	.	.	ENSG00000116176	ENST00000234798	D	0.93189	-3.18	4.14	-3.49	0.04724	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.	.	.	.	D	0.90841	0.7123	M	0.71871	2.18	0.09310	N	1	D	0.69078	0.997	P	0.48227	0.571	T	0.82625	-0.0365	9	0.62326	D	0.03	.	1.6392	0.02749	0.4867:0.1495:0.2122:0.1516	.	267	Q9NRR2	TRYG1_HUMAN	C	267	ENSP00000234798:R267C	ENSP00000234798:R267C	R	-	1	0	TPSG1	1211956	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.628000	0.05515	-0.263000	0.09378	0.645000	0.84053	CGC		0.662	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		11	16	11	16	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20563466	20563466	+	Splice_Site	SNP	C	C	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr16:20563466C>T	ENST00000329697.6	-	6	1062	c.894G>A	c.(892-894)aaG>aaA	p.K298K	ACSM2B_ENST00000567001.1_Splice_Site_p.K298K|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Splice_Site_p.K298K|ACSM2B_ENST00000565322.1_Splice_Site_p.K219K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	298					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTCTCTTACCTTTAGAATAA	0.393																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(892-894)aaG>aaA		acyl-CoA synthetase medium-chain family member 2B							106.0	109.0	108.0					16																	20563466		2201	4297	6498	SO:0001630	splice_region_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20563466C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.894+1G>A	16.37:g.20563466C>T			Somatic				ACSM2B_ENST00000567001.1_Splice_Site_p.K298K|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Splice_Site_p.K298K|ACSM2B_ENST00000565322.1_Splice_Site_p.K219K	p.K298K	NM_001105069.1	NP_001098539.1	WXS	Illumina GAIIx	Phase_I	Q68CK6	ACS2B_HUMAN			6	1062	-			298					Q86YT1	Splice_Site	SNP	ENST00000329697.6	37	c.894G>A	CCDS10586.1																																																																																				0.393	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	Silent	16	151	16	151	---	---	---	---
COG1	9382	broad.mit.edu	37	17	71193480	71193480	+	Silent	SNP	G	G	T			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr17:71193480G>T	ENST00000299886.4	+	4	938	c.858G>T	c.(856-858)ctG>ctT	p.L286L	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	286					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			ATCCAGCCCTGCCATGTGGCT	0.512																																						ENST00000299886.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(856-858)ctG>ctT		component of oligomeric golgi complex 1							111.0	103.0	106.0					17																	71193480		2203	4300	6503	SO:0001819	synonymous_variant	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71193480G>T		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.858G>T	17.37:g.71193480G>T			Somatic					p.L286L	NM_018714.2	NP_061184.1	WXS	Illumina GAIIx	Phase_I	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		4	938	+			286					Q9NPV9|Q9P2G6	Silent	SNP	ENST00000299886.4	37	c.858G>T	CCDS11692.1																																																																																				0.512	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			24	105	24	105	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25657357	25657357	+	Silent	SNP	G	G	A			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr20:25657357G>A	ENST00000376436.1	-	4	1106	c.567C>T	c.(565-567)ttC>ttT	p.F189F	ZNF337_ENST00000538750.1_Silent_p.F157F|ZNF337_ENST00000252979.5_Silent_p.F189F|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTTCCGGCTGAAGTCTTGCC	0.433																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(565-567)ttC>ttT		zinc finger protein 337							177.0	160.0	166.0					20																	25657357		2203	4300	6503	SO:0001819	synonymous_variant	26152							g.chr20:25657357G>A		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.567C>T	20.37:g.25657357G>A			Somatic				RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Silent_p.F157F|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.F189F	p.F189F			WXS	Illumina GAIIx	Phase_I					4	1106	-								B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	37	c.567C>T	CCDS13174.1																																																																																				0.433	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			5	219	5	219	---	---	---	---
HTR2C	3358	broad.mit.edu	37	X	113965814	113965814	+	Silent	SNP	A	A	C			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chrX:113965814A>C	ENST00000276198.1	+	4	875	c.147A>C	c.(145-147)ccA>ccC	p.P49P	HTR2C_ENST00000371950.3_Silent_p.P49P|HTR2C_ENST00000371951.1_Silent_p.P49P	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	49					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCAAATTCCCAGACGGGGTAC	0.433																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(145-147)ccA>ccC		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						144.0	128.0	134.0					X																	113965814		2203	4300	6503	SO:0001819	synonymous_variant	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113965814A>C		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.147A>C	X.37:g.113965814A>C			Somatic				HTR2C_ENST00000371950.3_Silent_p.P49P|HTR2C_ENST00000371951.1_Silent_p.P49P	p.P49P	NM_000868.2	NP_000859.1	WXS	Illumina GAIIx	Phase_I	P28335	5HT2C_HUMAN			4	875	+			49					B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	ENST00000276198.1	37	c.147A>C	CCDS14564.1																																																																																				0.433	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		8	73	8	73	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97788717	97788720	+	Frame_Shift_Del	DEL	GTGT	GTGT	-			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr7:97788717_97788720delGTGT	ENST00000297293.5	+	6	930_933	c.637_640delGTGT	c.(637-642)gtgtttfs	p.VF213fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTACCTCCTGGTGTTTGAGTTCTG	0.412																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(637-642)gtgtttfs		lemur tyrosine kinase 2																																				SO:0001589	frameshift_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97788717_97788720delGTGT	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.637_640delGTGT	7.37:g.97788717_97788720delGTGT	ENSP00000297293:p.Val213fs		Somatic					p.VF213fs	NM_014916.3	NP_055731.2	WXS	Illumina GAIIx	Phase_I	Q8IWU2	LMTK2_HUMAN			6	930_933	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		213			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Frame_Shift_Del	DEL	ENST00000297293.5	37	c.637_640delGTGT	CCDS5654.1																																																																																				0.412	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		31	121	31	121	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579315	7579316	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A7B4-01A-11D-A32B-08	TCGA-KK-A7B4-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48f40308-4306-49e9-95a2-2f3d5430bb1c	def273a4-201d-40ba-81ca-df45a7320547	g.chr17:7579315_7579316insC	ENST00000269305.4	-	4	560_561	c.371_372insG	c.(370-372)tgcfs	p.C124fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.C124fs	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	124	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; 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.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(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)	AACTGACCGTGCAAGTCACAGA	0.545		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"""		25	Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Nonsense(3)|Insertion - Frameshift(2)|Substitution - Missense(2)|Deletion - In frame(1)	p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(1)	lung(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|breast(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|liver(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.(370-372)tgcfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_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.chr17:7579315_7579316insC	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.372dupG	17.37:g.7579316_7579316dupC	ENSP00000269305:p.Cys124fs	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)	Somatic				TP53_ENST00000445888.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.C124fs	p.C124fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	503_504	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	124		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; 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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.371_372insG	CCDS11118.1																																																																																				0.545	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	29	25	29	---	---	---	---
