#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
MTA2	9219	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	62363998	62363998	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr11:62363998A>G	ENST00000278823.2	-	10	1278	c.889T>C	c.(889-891)Tgg>Cgg	p.W297R	MTA2_ENST00000524902.1_Missense_Mutation_p.W124R|MTA2_ENST00000527204.1_Missense_Mutation_p.W124R	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	297	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGTGACTTCCAGGGTAGCTAA	0.542																																																0													69.0	71.0	70.0					11																	62363998		2202	4299	6501	SO:0001583	missense	9219			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.889T>C	11.37:g.62363998A>G	ENSP00000278823:p.Trp297Arg		Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833957	0.71373	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.39229	1.09;1.09;1.09	5.83	5.83	0.93111	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.61322	-0.7086	10	0.62326	D	0.03	-15.5238	14.1534	0.65401	1.0:0.0:0.0:0.0	.	297	O94776	MTA2_HUMAN	R	297;124;124	ENSP00000278823:W297R;ENSP00000431346:W124R;ENSP00000431797:W124R	ENSP00000278823:W297R	W	-	1	0	MTA2	62120574	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.227000	0.72691	0.459000	0.35465	TGG		0.542	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		20	63	20	63
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	25398306	25398306	+	Missense_Mutation	SNP	T	T	C	rs193929331		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:25398306T>C	ENST00000256078.4	-	2	76	c.13A>G	c.(13-15)Aaa>Gaa	p.K5E	KRAS_ENST00000556131.1_Missense_Mutation_p.K5E|KRAS_ENST00000311936.3_Missense_Mutation_p.K5E|KRAS_ENST00000557334.1_Missense_Mutation_p.K5E	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	5			K -> E (in NS3). {ECO:0000269|PubMed:17468812}.|K -> N (in GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild- type protein). {ECO:0000269|PubMed:14534542}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.K5E(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			ACCACAAGTTTATATTCAGTC	0.358		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	GRCh37	CM073168	KRAS	M	rs121918682						77.0	70.0	73.0					12																	25398306		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.13A>G	12.37:g.25398306T>C	ENSP00000256078:p.Lys5Glu		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.975116	0.92919	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95137	0.8424	H	0.97918	4.105	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.69654	0.933;0.965	D	0.96809	0.9595	10	0.87932	D	0	.	14.768	0.69654	0.0:0.0:0.0:1.0	.	5;5	P01116-2;P01116	.;RASK_HUMAN	E	5	ENSP00000308495:K5E;ENSP00000452512:K5E;ENSP00000256078:K5E;ENSP00000451856:K5E	ENSP00000256078:K5E	K	-	1	0	KRAS	25289573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.963000	0.87922	2.155000	0.67459	0.460000	0.39030	AAA		0.358	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		20	31	20	31
PDE1B	5153	hgsc.bcm.edu;broad.mit.edu	37	12	54968886	54968886	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:54968886G>A	ENST00000243052.3	+	11	1505	c.1069G>A	c.(1069-1071)Gac>Aac	p.D357N	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.D316N|PDE1B_ENST00000550620.1_Missense_Mutation_p.D337N	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	357	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AACCAGGATTGACAAGCCCAA	0.537																																																0													120.0	109.0	112.0					12																	54968886		2203	4300	6503	SO:0001583	missense	5153			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1069G>A	12.37:g.54968886G>A	ENSP00000243052:p.Asp357Asn		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111816	0.94339	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.81739	-1.53;-1.53;-1.53	5.25	5.25	0.73442	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.88070	0.6338	M	0.64404	1.975	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73708	0.967;0.981	D	0.88719	0.3228	10	0.66056	D	0.02	.	16.7112	0.85386	0.0:0.0:1.0:0.0	.	337;357	Q01064-2;Q01064	.;PDE1B_HUMAN	N	357;316;337	ENSP00000243052:D357N;ENSP00000442559:D316N;ENSP00000448519:D337N	ENSP00000243052:D357N	D	+	1	0	PDE1B	53255153	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	9.699000	0.98703	2.618000	0.88619	0.561000	0.74099	GAC		0.537	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			11	104	11	104
EEA1	8411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	93244954	93244954	+	Missense_Mutation	SNP	C	C	T	rs557361655		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:93244954C>T	ENST00000322349.8	-	9	995	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	244					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTCTCGCTCACGTTCCAAGGT	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		17498	0.001		0.0	False		,,,				2504	0.0															0													131.0	107.0	115.0					12																	93244954		2202	4300	6502	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.731G>A	12.37:g.93244954C>T	ENSP00000317955:p.Arg244His		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650652	0.87958	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	D	0.82893	-1.66	5.84	5.84	0.93424	.	0.000000	0.53938	D	0.000050	D	0.85309	0.5667	L	0.32530	0.975	0.53005	D	0.999961	D	0.89917	1.0	D	0.78314	0.991	T	0.80542	-0.1336	10	0.15499	T	0.54	.	15.6149	0.76756	0.0:0.8632:0.1368:0.0	.	244	Q15075	EEA1_HUMAN	H	244;243	ENSP00000317955:R244H	ENSP00000317955:R244H	R	-	2	0	EEA1	91769085	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.197000	0.58413	2.764000	0.94973	0.650000	0.86243	CGT		0.383	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		35	41	35	41
FRY	10129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	32747575	32747575	+	Silent	SNP	A	A	C			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr13:32747575A>C	ENST00000380250.3	+	19	2719	c.2223A>C	c.(2221-2223)gtA>gtC	p.V741V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	741						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCACGCTGTAGAAGGTTTTG	0.468																																																0													170.0	172.0	171.0					13																	32747575		1974	4140	6114	SO:0001819	synonymous_variant	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2223A>C	13.37:g.32747575A>C			Q9Y3N6	Silent	SNP	ENST00000380250.3	37	CCDS41875.1																																																																																				0.468	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		20	102	20	102
EFNB2	1948	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	107147326	107147326	+	Silent	SNP	T	T	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr13:107147326T>A	ENST00000245323.4	-	4	665	c.516A>T	c.(514-516)ggA>ggT	p.G172G		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	172					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCTGGTTGATCCAGCAGAAC	0.383																																																0													219.0	206.0	211.0					13																	107147326		2203	4300	6503	SO:0001819	synonymous_variant	1948			L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.516A>T	13.37:g.107147326T>A			Q5JV56	Silent	SNP	ENST00000245323.4	37	CCDS9507.1																																																																																				0.383	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		90	111	90	111
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	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;	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	34	13	34
MTOR	2475	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	11184570	11184570	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:11184570A>G	ENST00000361445.4	-	47	6723	c.6647T>C	c.(6646-6648)cTt>cCt	p.L2216P	MTOR_ENST00000376838.1_Missense_Mutation_p.L421P	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2216	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GTTTTTCCGAAGAGATGTTGG	0.443																																																0													96.0	95.0	96.0					1																	11184570		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6647T>C	1.37:g.11184570A>G	ENSP00000354558:p.Leu2216Pro		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048310	0.75846	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.77877	-1.13;-1.13	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	L	0.28054	0.825	0.80722	D	1	P	0.42039	0.769	P	0.47346	0.544	T	0.77749	-0.2471	10	0.72032	D	0.01	-21.3461	14.7657	0.69637	1.0:0.0:0.0:0.0	.	2216	P42345	MTOR_HUMAN	P	2216;421	ENSP00000354558:L2216P;ENSP00000366034:L421P	ENSP00000354558:L2216P	L	-	2	0	MTOR	11107157	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.855000	0.92236	2.229000	0.72834	0.529000	0.55759	CTT		0.443	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		32	7	32	7
VHLL	391104	hgsc.bcm.edu;broad.mit.edu	37	1	156268966	156268966	+	Silent	SNP	C	C	T	rs537361828		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:156268966C>T	ENST00000339922.3	-	1	462	c.15G>A	c.(13-15)gcG>gcA	p.A5A		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	5										endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCCCGTTCCCCGCTCTCCAGG	0.597																																																0													40.0	45.0	43.0					1																	156268966		2202	4298	6500	SO:0001819	synonymous_variant	391104					1q22	2013-09-24			ENSG00000189030	ENSG00000189030			30666	protein-coding gene	gene with protein product			"""VHL pseudogene"""	VHLP		14757845	Standard	NM_001004319		Approved	VLP	uc001fok.3	Q6RSH7	OTTHUMG00000024058	ENST00000339922.3:c.15G>A	1.37:g.156268966C>T			A1L4M4	Silent	SNP	ENST00000339922.3	37																																																																																					0.597	VHLL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000060590.3	NM_001004319		10	141	10	141
TIAM1	7074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	32617956	32617956	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr21:32617956C>G	ENST00000286827.3	-	7	1903	c.1432G>C	c.(1432-1434)Gag>Cag	p.E478Q	TIAM1_ENST00000541036.1_Missense_Mutation_p.E478Q|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	478	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCGTCGCTCTCGTAGAAAAAT	0.527																																																0													67.0	58.0	61.0					21																	32617956		2203	4300	6503	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1432G>C	21.37:g.32617956C>G	ENSP00000286827:p.Glu478Gln		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081575	0.94050	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.28895	1.59;1.59	5.22	5.22	0.72569	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.998	T	0.47045	-0.9147	10	0.66056	D	0.02	.	18.9723	0.92719	0.0:1.0:0.0:0.0	.	478;478;319;478	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	Q	478;319;478	ENSP00000286827:E478Q;ENSP00000441570:E478Q	ENSP00000286827:E478Q	E	-	1	0	TIAM1	31539827	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.628000	0.83189	2.717000	0.92951	0.650000	0.86243	GAG		0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		10	49	10	49
NEB	4703	hgsc.bcm.edu;broad.mit.edu	37	2	152409920	152409920	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr2:152409920G>A	ENST00000172853.10	-	99	14767	c.14620C>T	c.(14620-14622)Cgt>Tgt	p.R4874C	NEB_ENST00000397345.3_Missense_Mutation_p.R6575C|NEB_ENST00000603639.1_Missense_Mutation_p.R6575C|NEB_ENST00000604864.1_Missense_Mutation_p.R6575C|NEB_ENST00000427231.2_Missense_Mutation_p.R6575C|NEB_ENST00000409198.1_Missense_Mutation_p.R4874C			P20929	NEBU_HUMAN	nebulin	4874					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACATCATCACGTAGATCATAA	0.408																																																0													152.0	144.0	147.0					2																	152409920		1977	4160	6137	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14620C>T	2.37:g.152409920G>A	ENSP00000172853:p.Arg4874Cys		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	28.5	4.926309	0.92319	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.67	5.67	0.87782	.	0.052588	0.85682	D	0.000000	T	0.45796	0.1360	N	0.22421	0.69	0.80722	D	1	D;P	0.55800	0.973;0.599	P;B	0.53185	0.72;0.101	T	0.40421	-0.9564	10	0.51188	T	0.08	.	19.7743	0.96385	0.0:0.0:1.0:0.0	.	4874;1305	P20929;Q14215	NEBU_HUMAN;.	C	4874;6575;6575;923;1305;4874	ENSP00000386259:R4874C;ENSP00000380505:R6575C;ENSP00000416578:R6575C;ENSP00000410961:R1305C;ENSP00000172853:R4874C	ENSP00000172853:R4874C	R	-	1	0	NEB	152118166	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	9.869000	0.99810	2.663000	0.90544	0.557000	0.71058	CGT		0.408	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		45	39	45	39
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	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)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				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		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	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			38	47	38	47
SLC6A6	6533	hgsc.bcm.edu;broad.mit.edu	37	3	14520692	14520692	+	Splice_Site	SNP	T	T	C	rs200367448		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr3:14520692T>C	ENST00000454876.2	+	13	1879	c.1550T>C	c.(1549-1551)gTt>gCt	p.V517A	SLC6A6_ENST00000360861.3_Splice_Site_p.V517A			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	517					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GTTCTCTGTGTTGTGAGTTCC	0.517																																																0													135.0	118.0	124.0					3																	14520692		2203	4300	6503	SO:0001630	splice_region_variant	6533				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1551+1T>C	3.37:g.14520692T>C			B2RNU7|Q9BRI2|Q9BXB0	Splice_Site	SNP	ENST00000454876.2	37	CCDS33705.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	12.54	1.968630	0.34754	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.74842	-0.88;-0.88	5.55	3.13	0.36017	.	0.226218	0.45606	D	0.000360	T	0.56630	0.1998	N	0.17901	0.54	0.43808	D	0.99636	B	0.02656	0.0	B	0.04013	0.001	T	0.48725	-0.9010	10	0.28530	T	0.3	.	10.0804	0.42386	0.0:0.1388:0.0:0.8612	.	517	P31641	SC6A6_HUMAN	A	517	ENSP00000398063:V517A;ENSP00000354107:V517A	ENSP00000354107:V517A	V	+	2	0	SLC6A6	14495696	1.000000	0.71417	0.984000	0.44739	0.885000	0.51271	1.892000	0.39748	0.937000	0.37394	0.482000	0.46254	GTT		0.517	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043	Missense_Mutation	37	70	37	70
GADL1	339896	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	30885753	30885753	+	Silent	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr3:30885753A>G	ENST00000282538.5	-	8	885	c.735T>C	c.(733-735)ggT>ggC	p.G245G	GADL1_ENST00000454381.3_Silent_p.G245G	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	245					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						GTATCATTTTACCTCTAAGGG	0.433																																																0													176.0	159.0	165.0					3																	30885753		2203	4300	6503	SO:0001819	synonymous_variant	339896			AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.735T>C	3.37:g.30885753A>G				Silent	SNP	ENST00000282538.5	37	CCDS2649.2																																																																																				0.433	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		80	106	80	106
HERC3	8916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	89583639	89583639	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:89583639A>G	ENST00000402738.1	+	11	1443	c.1204A>G	c.(1204-1206)Ata>Gta	p.I402V	HERC3_ENST00000264345.3_Missense_Mutation_p.I402V|HERC3_ENST00000543130.1_Intron	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	402					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TACCAGTTTAATAAATGATGA	0.333																																																0													114.0	107.0	109.0					4																	89583639		2203	4300	6503	SO:0001583	missense	8916			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1204A>G	4.37:g.89583639A>G	ENSP00000385684:p.Ile402Val		A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	A	6.463	0.453511	0.12283	.	.	ENSG00000138641	ENST00000402738;ENST00000264345	T;T	0.39056	1.1;1.1	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	N	0.08118	0	0.80722	D	1	B	0.20550	0.046	B	0.18871	0.023	T	0.07849	-1.0751	10	0.08837	T	0.75	.	14.3918	0.66983	1.0:0.0:0.0:0.0	.	402	Q15034	HERC3_HUMAN	V	402	ENSP00000385684:I402V;ENSP00000264345:I402V	ENSP00000264345:I402V	I	+	1	0	HERC3	89802662	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.158000	0.71851	2.044000	0.60594	0.533000	0.62120	ATA		0.333	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		45	68	45	68
ADH1A	124	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	100205754	100205754	+	Silent	SNP	G	G	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:100205754G>A	ENST00000209668.2	-	5	482	c.369C>T	c.(367-369)acC>acT	p.T123T	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'Flank	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	123					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	CATCCTGCAGGGTCCCCTGAG	0.517																																																0													74.0	73.0	73.0					4																	100205754		2203	4300	6503	SO:0001819	synonymous_variant	124			M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.369C>T	4.37:g.100205754G>A			A8K3E3|Q17R68	Silent	SNP	ENST00000209668.2	37	CCDS3648.1																																																																																				0.517	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		21	38	21	38
SLC26A8	116369	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	35922951	35922951	+	Missense_Mutation	SNP	C	C	T	rs200862862		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:35922951C>T	ENST00000490799.1	-	17	2563	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q	SLC26A8_ENST00000355574.2_Missense_Mutation_p.R737Q|SLC26A8_ENST00000394602.2_Missense_Mutation_p.R632Q	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.R737L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GACTAACCCCCGTGAATCCAC	0.527																																																1	Substitution - Missense(1)	lung(1)						C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	106.0	97.0	100.0		2210,2210,1895	-8.8	0.0	6		100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SLC26A8	NM_001193476.1,NM_052961.3,NM_138718.2	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	737/971,737/971,632/866	35922951	1,13005	2203	4300	6503	SO:0001583	missense	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2210G>A	6.37:g.35922951C>T	ENSP00000417638:p.Arg737Gln			Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	7.143	0.582222	0.13749	0.0	1.16E-4	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.87650	-2.28;-2.28;-2.28	4.58	-8.76	0.00830	Sulphate transporter/antisigma-factor antagonist STAS (4);	1.374740	0.04586	N	0.395897	T	0.53916	0.1826	N	0.17082	0.46	0.09310	N	1	B;B;B	0.24823	0.019;0.066;0.112	B;B;B	0.14578	0.006;0.004;0.011	T	0.51172	-0.8739	10	0.12103	T	0.63	.	16.8141	0.85729	0.0:0.274:0.0:0.726	.	737;632;319	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	Q	737;632;737	ENSP00000417638:R737Q;ENSP00000378100:R632Q;ENSP00000347778:R737Q	ENSP00000347778:R737Q	R	-	2	0	SLC26A8	36030929	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.938000	0.00684	-2.750000	0.00375	-1.731000	0.00696	CGG		0.527	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			59	92	59	92
CUL9	23113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	43193850	43193850	+	IGR	SNP	C	C	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:43193850C>T	ENST00000252050.4	+	0	7780				DNPH1_ENST00000230431.6_Silent_p.L99L|RP3-330M21.5_ENST00000500590.1_RNA|DNPH1_ENST00000393987.2_Silent_p.L99L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGCCTACACCCAAGGATGGCT	0.607																																																0													34.0	27.0	30.0					6																	43193850		2190	4285	6475	SO:0001628	intergenic_variant	10591			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723		6.37:g.43193850C>T			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																				0.607	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		12	34	12	34
EPHA7	2045	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	93964475	93964475	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:93964475T>C	ENST00000369303.4	-	14	2606	c.2422A>G	c.(2422-2424)Atc>Gtc	p.I808V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	808	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CGGTACTGGATGGCTTCGGGT	0.373																																																0													126.0	108.0	114.0					6																	93964475		2203	4300	6503	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2422A>G	6.37:g.93964475T>C	ENSP00000358309:p.Ile808Val		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604388	0.66445	.	.	ENSG00000135333	ENST00000369303	D	0.83837	-1.77	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80834	0.4699	M	0.71871	2.18	0.80722	D	1	B;B;B	0.29232	0.238;0.2;0.238	B;B;B	0.38264	0.269;0.053;0.088	T	0.82922	-0.0217	10	0.72032	D	0.01	.	15.6344	0.76941	0.0:0.0:0.0:1.0	.	804;803;808	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	V	808	ENSP00000358309:I808V	ENSP00000358309:I808V	I	-	1	0	EPHA7	94021196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.955000	0.87856	2.105000	0.64084	0.533000	0.62120	ATC		0.373	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			40	44	40	44
MAP3K5	4217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	136935398	136935398	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:136935398A>G	ENST00000359015.4	-	16	2537	c.2177T>C	c.(2176-2178)aTa>aCa	p.I726T	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	726	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATGCAATGCTATTTCTTCATG	0.363																																																0													176.0	169.0	171.0					6																	136935398		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2177T>C	6.37:g.136935398A>G	ENSP00000351908:p.Ile726Thr		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.375957	0.82682	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.28255	1.62	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.87578	0.998;0.995	T	0.59075	-0.7522	10	0.87932	D	0	.	15.9113	0.79475	1.0:0.0:0.0:0.0	.	806;726	Q59GL6;Q99683	.;M3K5_HUMAN	T	726;806	ENSP00000351908:I726T	ENSP00000351908:I726T	I	-	2	0	MAP3K5	136977091	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.910000	0.92685	2.210000	0.71456	0.528000	0.53228	ATA		0.363	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			65	100	65	100
CYCS	54205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	25163609	25163609	+	Missense_Mutation	SNP	C	C	A	rs11548807		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr7:25163609C>A	ENST00000305786.2	-	2	299	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S	CYCS_ENST00000409409.1_Missense_Mutation_p.A44S|CYCS_ENST00000409764.1_Missense_Mutation_p.A44S	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	44					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|dephosphorylation (GO:0016311)|intrinsic apoptotic signaling pathway (GO:0097193)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Minocycline(DB01017)	TATCCAGGGGCCTGACCTGTC	0.443																																																0													63.0	66.0	65.0					7																	25163609		2203	4300	6503	SO:0001583	missense	54205			M22877	CCDS5393.1	7p21.2	2014-09-17			ENSG00000172115	ENSG00000172115			19986	protein-coding gene	gene with protein product		123970				11790791	Standard	NM_018947		Approved	HCS, CYC	uc003sxl.3	P99999	OTTHUMG00000128495	ENST00000305786.2:c.130G>T	7.37:g.25163609C>A	ENSP00000307786:p.Ala44Ser		A4D166|B2R4I1|P00001|Q6NUR2|Q6NX69|Q96BV4	Missense_Mutation	SNP	ENST00000305786.2	37	CCDS5393.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116740	0.77323	.	.	ENSG00000172115	ENST00000305786;ENST00000409409;ENST00000409764;ENST00000413447	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.07	5.07	0.68467	Cytochrome c, class I (1);Cytochrome c domain (3);	0.137856	0.47455	U	0.000233	T	0.76835	0.4043	M	0.76574	2.34	0.58432	D	0.999999	B	0.09022	0.002	B	0.34242	0.178	T	0.75051	-0.3454	10	0.52906	T	0.07	.	18.8272	0.92123	0.0:1.0:0.0:0.0	.	44	P99999	CYC_HUMAN	S	44	ENSP00000307786:A44S;ENSP00000386270:A44S;ENSP00000387279:A44S;ENSP00000416479:A44S	ENSP00000307786:A44S	A	-	1	0	CYCS	25130134	1.000000	0.71417	0.991000	0.47740	0.910000	0.53928	3.819000	0.55686	2.493000	0.84123	0.650000	0.86243	GCC		0.443	CYCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250299.2			21	68	21	68
GPR124	25960	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	37698790	37698790	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr8:37698790G>T	ENST00000412232.2	+	19	2947	c.2934G>T	c.(2932-2934)agG>agT	p.R978S	GPR124_ENST00000315215.7_Missense_Mutation_p.R761S	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	978					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTTCCACCAGGCTCAGGGGCA	0.706																																																0													24.0	29.0	27.0					8																	37698790		2202	4300	6502	SO:0001583	missense	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2934G>T	8.37:g.37698790G>T	ENSP00000406367:p.Arg978Ser		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279311	0.23307	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.58940	0.3;0.43	4.96	4.08	0.47627	.	0.333921	0.34268	N	0.004115	T	0.45357	0.1338	L	0.50333	1.59	0.41562	D	0.988639	B;P	0.35328	0.264;0.495	B;B	0.30716	0.082;0.119	T	0.35724	-0.9777	10	0.29301	T	0.29	-29.1212	8.0411	0.30521	0.0854:0.1599:0.7547:0.0	.	761;978	Q96PE1-2;Q96PE1	.;GP124_HUMAN	S	971;761;978	ENSP00000323508:R761S;ENSP00000406367:R978S	ENSP00000323508:R761S	R	+	3	2	GPR124	37817948	1.000000	0.71417	0.998000	0.56505	0.715000	0.41141	0.727000	0.25999	1.079000	0.41038	0.655000	0.94253	AGG		0.706	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			6	6	6	6
SPATA31E1	286234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	90502800	90502800	+	Missense_Mutation	SNP	G	G	A	rs531419008		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr9:90502800G>A	ENST00000325643.5	+	4	3464	c.3398G>A	c.(3397-3399)cGc>cAc	p.R1133H		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1133					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTCCAGGCCGCCACATGGAC	0.642													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16672	0.0		0.0	False		,,,				2504	0.0															0													42.0	48.0	46.0					9																	90502800		2202	4300	6502	SO:0001583	missense	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3398G>A	9.37:g.90502800G>A	ENSP00000322640:p.Arg1133His		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	6.748	0.506769	0.12883	.	.	ENSG00000177992	ENST00000325643	T	0.03745	3.82	2.87	0.724	0.18236	.	.	.	.	.	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	1	D	0.67145	0.996	P	0.53809	0.735	T	0.44892	-0.9298	9	0.34782	T	0.22	.	3.7023	0.08387	0.1769:0.2926:0.5305:0.0	.	1133	Q6ZUB1	CI079_HUMAN	H	1133	ENSP00000322640:R1133H	ENSP00000322640:R1133H	R	+	2	0	C9orf79	89692620	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.272000	0.01165	0.171000	0.19730	-0.345000	0.07892	CGC		0.642	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		29	47	29	47
PHEX	5251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	22095667	22095667	+	Silent	SNP	T	T	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:22095667T>A	ENST00000379374.4	+	5	1075	c.510T>A	c.(508-510)ctT>ctA	p.L170L	PHEX_ENST00000535894.1_Silent_p.L73L|PHEX_ENST00000537599.1_Silent_p.L170L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	170					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGCCCGTGCTTGAATCTAATA	0.473																																																0													201.0	187.0	192.0					X																	22095667		2203	4300	6503	SO:0001819	synonymous_variant	5251			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.510T>A	X.37:g.22095667T>A			O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	37	CCDS14204.1																																																																																				0.473	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		140	259	140	259
COL4A6	1288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	107406179	107406179	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:107406179C>T	ENST00000372216.4	-	41	4262	c.4162G>A	c.(4162-4164)Gat>Aat	p.D1388N	COL4A6_ENST00000545689.1_Missense_Mutation_p.D1363N|COL4A6_ENST00000394872.2_Missense_Mutation_p.D1388N|COL4A6_ENST00000334504.7_Missense_Mutation_p.D1387N|COL4A6_ENST00000418180.1_5'Flank|COL4A6_ENST00000538570.1_Missense_Mutation_p.D1330N	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1388	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGGATGCCATCGATCCCTGGT	0.592									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											0													122.0	119.0	120.0					X																	107406179		2203	4300	6503	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4162G>A	X.37:g.107406179C>T	ENSP00000361290:p.Asp1388Asn		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	9.298	1.052415	0.19827	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93307	-3.19;-3.19;-3.19;-3.19;-3.2	4.23	3.36	0.38483	.	0.000000	0.43919	D	0.000505	D	0.89230	0.6656	L	0.31157	0.91	0.26926	N	0.966569	D;B;D;D	0.61697	0.99;0.054;0.982;0.99	P;B;P;P	0.50791	0.65;0.004;0.542;0.65	T	0.81011	-0.1126	10	0.17369	T	0.5	.	8.3797	0.32463	0.0:0.8072:0.0:0.1928	.	1363;1330;1388;1387	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	N	1388;1387;1388;1375;1363;1330	ENSP00000361290:D1388N;ENSP00000334733:D1387N;ENSP00000378340:D1388N;ENSP00000443707:D1363N;ENSP00000445236:D1330N	ENSP00000334733:D1387N	D	-	1	0	COL4A6	107292835	0.061000	0.20836	0.783000	0.31826	0.139000	0.21198	0.413000	0.21148	1.131000	0.42111	0.600000	0.82982	GAT		0.592	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			116	174	116	174
TENM1	10178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	123680892	123680892	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:123680892C>T	ENST00000371130.3	-	15	2546	c.2483G>A	c.(2482-2484)tGt>tAt	p.C828Y	TENM1_ENST00000422452.2_Missense_Mutation_p.C828Y	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	828					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACTTATATAACAGTTGCTTTG	0.393																																																0													121.0	103.0	109.0					X																	123680892		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2483G>A	X.37:g.123680892C>T	ENSP00000360171:p.Cys828Tyr		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130353	0.77549	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.16743	2.32;2.32	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	M	0.87617	2.895	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.991;0.997;0.998	T	0.58070	-0.7701	10	0.87932	D	0	.	18.0242	0.89263	0.0:1.0:0.0:0.0	.	827;828;828	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Y	828	ENSP00000360171:C828Y;ENSP00000403954:C828Y	ENSP00000360171:C828Y	C	-	2	0	ODZ1	123508573	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.320000	0.79064	2.448000	0.82819	0.594000	0.82650	TGT		0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		38	78	38	78
PLXNA3	55558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	153695648	153695648	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:153695648G>T	ENST00000369682.3	+	19	3450	c.3275G>T	c.(3274-3276)cGg>cTg	p.R1092L		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1092	IPT/TIG 3.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCAGCCTCGGGCGCAAGGC	0.617																																																0													49.0	49.0	49.0					X																	153695648		2202	4299	6501	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3275G>T	X.37:g.153695648G>T	ENSP00000358696:p.Arg1092Leu		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	6.767	0.510360	0.12883	.	.	ENSG00000130827	ENST00000369682	T	0.00986	5.47	5.67	-4.03	0.04021	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.292311	0.20047	U	0.100399	T	0.00384	0.0012	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.44757	-0.9307	10	0.24483	T	0.36	.	1.7524	0.02975	0.3528:0.1305:0.3559:0.1608	.	1092	P51805	PLXA3_HUMAN	L	1092	ENSP00000358696:R1092L	ENSP00000358696:R1092L	R	+	2	0	PLXNA3	153348842	0.000000	0.05858	0.036000	0.18154	0.803000	0.45373	-0.498000	0.06420	-0.371000	0.08004	-0.257000	0.10917	CGG		0.617	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		32	114	32	114
THOP1	7064	broad.mit.edu;ucsc.edu	37	19	2810741	2810741	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr19:2810741G>T	ENST00000307741.6	+	11	1949	c.1746G>T	c.(1744-1746)gaG>gaT	p.E582D	THOP1_ENST00000586677.1_Missense_Mutation_p.E461D|THOP1_ENST00000395212.4_Missense_Mutation_p.E93D	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	582					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCCAGGAGATCCTCGGGG	0.662																																																0													19.0	19.0	19.0					19																	2810741		2189	4292	6481	SO:0001583	missense	7064				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1746G>T	19.37:g.2810741G>T	ENSP00000304467:p.Glu582Asp		B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524039	0.27299	.	.	ENSG00000172009	ENST00000307741;ENST00000395212	T;T	0.12879	2.88;2.64	4.54	-8.04	0.01110	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.369632	0.29822	N	0.011113	T	0.10337	0.0253	L	0.51914	1.62	0.45239	D	0.998245	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.09377	0.004;0.003;0.004	T	0.07809	-1.0753	10	0.41790	T	0.15	-22.7065	13.7944	0.63162	0.0737:0.6621:0.2642:0.0	.	461;93;582	B4DU96;B3KSE2;P52888	.;.;THOP1_HUMAN	D	582;93	ENSP00000304467:E582D;ENSP00000378638:E93D	ENSP00000304467:E582D	E	+	3	2	THOP1	2761741	0.996000	0.38824	0.918000	0.36340	0.053000	0.15095	0.310000	0.19356	-0.849000	0.04158	-0.321000	0.08615	GAG		0.662	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			3	7	3	7
LPAL2	80350	broad.mit.edu;ucsc.edu	37	6	160906846	160906846	+	RNA	SNP	C	C	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:160906846C>T	ENST00000335388.5	-	0	850					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CAAAGACGTACGCATTTGGGT	0.463																																																0																																												80350			U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160906846C>T			E1P5B4	RNA	SNP	ENST00000335388.5	37																																																																																					0.463	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		98	189	98	189
KAT6B	23522	broad.mit.edu;hgsc.bcm.edu	37	10	76788415	76788415	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr10:76788415delA	ENST00000287239.4	+	18	4322	c.3833delA	c.(3832-3834)gaafs	p.E1278fs	KAT6B_ENST00000372724.1_Frame_Shift_Del_p.E986fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.E986fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.E986fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.E1095fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1278					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ACCCCGCCAGAAACACCCATG	0.493																																																0													81.0	78.0	79.0					10																	76788415		2203	4300	6503	SO:0001589	frameshift_variant	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3833delA	10.37:g.76788415delA	ENSP00000287239:p.Glu1278fs		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Del	DEL	ENST00000287239.4	37	CCDS7345.1																																																																																				0.493	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		31	70	31	70
