#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
PRKCQ	5588	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	6472890	6472890	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr10:6472890C>T	ENST00000263125.5	-	17	1946	c.1847G>A	c.(1846-1848)cGa>cAa	p.R616Q	PRKCQ_ENST00000539722.1_Missense_Mutation_p.R491Q|PRKCQ_ENST00000397176.2_Missense_Mutation_p.R553Q	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	616	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	CTCAGGTTCTCGCACGAAGAG	0.587																																					Ovarian(50;572 1126 10530 25349 30594)											0													63.0	56.0	58.0					10																	6472890		2203	4300	6503	SO:0001583	missense	5588			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1847G>A	10.37:g.6472890C>T	ENSP00000263125:p.Arg616Gln		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.687945|4.687945	0.88639|0.88639	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000397178|ENST00000263125;ENST00000397176;ENST00000539722	.|T;T;T	.|0.58797	.|0.31;0.31;0.31	5.23|5.23	4.32|4.32	0.51571|0.51571	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.046988	.|0.85682	.|D	.|0.000000	T|T	0.67692|0.67692	0.2920|0.2920	L|L	0.45137|0.45137	1.4|1.4	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.957;0.991;1.0;0.968	T|T	0.70421|0.70421	-0.4876|-0.4876	5|10	.|0.87932	.|D	.|0	.|.	12.9862|12.9862	0.58594|0.58594	0.0:0.9193:0.0:0.0807|0.0:0.9193:0.0:0.0807	.|.	.|491;388;553;616	.|B4DF52;Q5JUN8;Q04759-2;Q04759	.|.;.;.;KPCT_HUMAN	K|Q	389|616;553;491	.|ENSP00000263125:R616Q;ENSP00000380361:R553Q;ENSP00000441752:R491Q	.|ENSP00000263125:R616Q	E|R	-|-	1|2	0|0	PRKCQ|PRKCQ	6512896|6512896	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.848000|0.848000	0.48234|0.48234	7.275000|7.275000	0.78548|0.78548	2.434000|2.434000	0.82447|0.82447	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.587	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		20	37	20	37
ATG2A	23130	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	64665787	64665787	+	Silent	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:64665787C>T	ENST00000377264.3	-	33	4831	c.4719G>A	c.(4717-4719)ggG>ggA	p.G1573G	ATG2A_ENST00000421419.2_Silent_p.G1575G	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1573					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGCACTCAGGCCCACCCAGGT	0.637											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0													54.0	55.0	55.0					11																	64665787		2201	4297	6498	SO:0001819	synonymous_variant	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4719G>A	11.37:g.64665787C>T		1078	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	2.958	-0.215266	0.06101	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.37	-4.5	0.03493	.	.	.	.	.	T	0.50360	0.1611	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50524	-0.8818	4	.	.	.	.	7.8227	0.29296	0.0:0.169:0.4953:0.3357	.	.	.	.	T	1377	.	.	A	-	1	0	ATG2A	64422363	0.000000	0.05858	0.010000	0.14722	0.444000	0.32077	-3.183000	0.00568	-0.626000	0.05596	-0.265000	0.10407	GCC		0.637	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		20	17	20	17
ARHGEF12	23365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	120312904	120312904	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:120312904G>T	ENST00000397843.2	+	15	1461	c.1295G>T	c.(1294-1296)cGa>cTa	p.R432L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R413L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R329L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	432	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTTCTAGATCGATCAGCAGTA	0.388			T	MLL	AML																																		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													110.0	94.0	99.0					11																	120312904		1883	4123	6006	SO:0001583	missense	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1295G>T	11.37:g.120312904G>T	ENSP00000380942:p.Arg432Leu		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848250	0.91277	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	D;D;D	0.83755	-1.76;-1.76;-1.76	5.45	5.45	0.79879	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.40302	N	0.001125	D	0.87728	0.6250	M	0.63428	1.95	0.48341	D	0.99963	D;P;P	0.65815	0.995;0.929;0.942	P;P;P	0.61201	0.885;0.682;0.787	D	0.87952	0.2724	10	0.62326	D	0.03	-8.2586	12.2076	0.54361	0.0787:0.0:0.9213:0.0	.	329;413;432	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	L	432;413;329	ENSP00000380942:R432L;ENSP00000349056:R413L;ENSP00000432984:R329L	ENSP00000349056:R413L	R	+	2	0	ARHGEF12	119818114	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.063000	0.76714	2.706000	0.92434	0.650000	0.86243	CGA		0.388	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		11	17	11	17
FAM214A	56204	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	52901049	52901049	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr15:52901049T>C	ENST00000261844.7	-	6	2214	c.2062A>G	c.(2062-2064)Act>Gct	p.T688A	FAM214A_ENST00000546305.2_Missense_Mutation_p.T695A	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	688																	TCCAACACAGTAACTTTTATT	0.284																																																0													81.0	74.0	76.0					15																	52901049		1791	4056	5847	SO:0001583	missense	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2062A>G	15.37:g.52901049T>C	ENSP00000261844:p.Thr688Ala		A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	1.815	-0.473613	0.04414	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.31510	1.49;1.49	6.16	0.834	0.18880	.	0.541762	0.21414	N	0.074938	T	0.16300	0.0392	N	0.25647	0.755	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.12967	-1.0527	10	0.37606	T	0.19	.	2.9046	0.05716	0.1027:0.1901:0.1182:0.589	.	695;688	F5H8G0;Q32MH5	.;K1370_HUMAN	A	688;688;687;695	ENSP00000261844:T688A;ENSP00000443598:T695A	ENSP00000261844:T688A	T	-	1	0	KIAA1370	50688341	0.097000	0.21791	0.001000	0.08648	0.032000	0.12392	0.174000	0.16743	0.188000	0.20168	0.528000	0.53228	ACT		0.284	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		10	32	10	32
MLLT6	4302	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	36872811	36872811	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:36872811T>A	ENST00000325718.7	+	10	1319	c.1228T>A	c.(1228-1230)Tcc>Acc	p.S410T	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	410					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CATGCGCTTCTCCACCACCAC	0.662			T	MLL	AL																																		Dom	yes		17	17q21	4302	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""		L	0													33.0	39.0	37.0					17																	36872811		2203	4300	6503	SO:0001583	missense	4302				CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1228T>A	17.37:g.36872811T>A	ENSP00000316426:p.Ser410Thr		Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.956019	0.53293	.	.	ENSG00000108292	ENST00000325718	T	0.13420	2.59	5.33	4.23	0.50019	.	0.650666	0.15366	N	0.266127	T	0.08582	0.0213	N	0.25647	0.755	0.35471	D	0.797321	B	0.02656	0.0	B	0.04013	0.001	T	0.15206	-1.0445	10	0.07030	T	0.85	.	9.4751	0.38867	0.164:0.0:0.0:0.836	.	410	P55198	AF17_HUMAN	T	410	ENSP00000316426:S410T	ENSP00000316426:S410T	S	+	1	0	MLLT6	34126337	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.310000	0.43708	0.829000	0.34733	0.459000	0.35465	TCC		0.662	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		44	91	44	91
TANC2	26115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	61498201	61498201	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:61498201C>T	ENST00000424789.2	+	25	4862	c.4858C>T	c.(4858-4860)Cca>Tca	p.P1620S	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.P1630S	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1620					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCAGCCCAGCCCAGCCGTCCA	0.577																																																0													73.0	77.0	76.0					17																	61498201		2075	4217	6292	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4858C>T	17.37:g.61498201C>T	ENSP00000387593:p.Pro1620Ser		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.642940	0.00792	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.61040	0.14;0.14	5.5	4.43	0.53597	.	0.160023	0.42420	N	0.000707	T	0.25232	0.0613	N	0.01874	-0.695	0.26032	N	0.98172	B	0.02656	0.0	B	0.01281	0.0	T	0.22730	-1.0208	10	0.02654	T	1	.	10.6066	0.45398	0.0:0.0766:0.0:0.9234	.	1620	Q9HCD6	TANC2_HUMAN	S	1630;1620	ENSP00000374171:P1630S;ENSP00000387593:P1620S	ENSP00000374171:P1630S	P	+	1	0	TANC2	58851933	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	1.189000	0.32114	0.949000	0.37715	-0.367000	0.07326	CCA		0.577	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			46	122	46	122
AMZ2	51321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	66246612	66246612	+	Splice_Site	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:66246612G>A	ENST00000359904.3	+	2	1415		c.e2+1		AMZ2_ENST00000392720.2_Splice_Site|AMZ2_ENST00000577273.1_Splice_Site|AMZ2_ENST00000580753.1_Splice_Site|AMZ2_ENST00000359783.4_Splice_Site|AMZ2_ENST00000577866.1_Splice_Site|RP11-147L13.2_ENST00000577698.1_RNA|AMZ2_ENST00000577985.1_Splice_Site|AMZ2_ENST00000585050.1_Splice_Site	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2								metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGTCCATTGGTAAATACTGG	0.463																																																0													93.0	94.0	94.0					17																	66246612		2203	4299	6502	SO:0001630	splice_region_variant	51321			CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.283+1G>A	17.37:g.66246612G>A			A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Splice_Site	SNP	ENST00000359904.3	37	CCDS11674.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405193	0.25378	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	.	.	.	3.15	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4601	0.32923	0.0:0.2415:0.7585:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AMZ2	63758207	1.000000	0.71417	0.913000	0.36048	0.560000	0.35617	7.788000	0.85771	1.761000	0.52028	0.306000	0.20318	.		0.463	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627	Intron	16	172	16	172
SLC38A10	124565	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	79219799	79219799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:79219799G>A	ENST00000374759.3	-	16	3300	c.2917C>T	c.(2917-2919)Cag>Tag	p.Q973*		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	973					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGTGGCCCTGCTGTCCACCC	0.692																																																0													23.0	27.0	26.0					17																	79219799		1985	4154	6139	SO:0001587	stop_gained	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2917C>T	17.37:g.79219799G>A	ENSP00000363891:p.Gln973*		Q6ZRC5|Q8NA99|Q96C66	Nonsense_Mutation	SNP	ENST00000374759.3	37	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	40	8.395263	0.98791	.	.	ENSG00000157637	ENST00000374759	.	.	.	2.36	1.36	0.22044	.	300.001000	0.00166	U	0.000008	.	.	.	.	.	.	0.19945	N	0.999943	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	5.9535	0.19261	0.162:0.0:0.838:0.0	.	.	.	.	X	973	.	ENSP00000363891:Q973X	Q	-	1	0	SLC38A10	76834394	0.008000	0.16893	0.562000	0.28370	0.253000	0.25986	0.055000	0.14229	0.207000	0.20607	0.467000	0.42956	CAG		0.692	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		36	53	36	53
GATSL3	652968	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	30683477	30683477	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr22:30683477C>T	ENST00000407689.3	-	3	386	c.257G>A	c.(256-258)gGt>gAt	p.G86D	GATSL3_ENST00000459785.1_5'Flank|GATSL3_ENST00000404953.3_Missense_Mutation_p.G86D|RP1-130H16.18_ENST00000447976.1_3'UTR	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	86										breast(1)|endometrium(1)|lung(1)	3						CACTGCCGCACCGCTGTGAGA	0.627											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													30.0	35.0	34.0					22																	30683477		2198	4291	6489	SO:0001583	missense	652968				CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.257G>A	22.37:g.30683477C>T	ENSP00000384183:p.Gly86Asp	819	O76052|Q96ND9|Q9UIE8	Missense_Mutation	SNP	ENST00000407689.3	37	CCDS43001.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500263	0.44455	.	.	ENSG00000239282;ENSG00000239282;ENSG00000248751	ENST00000407689;ENST00000404953;ENST00000434291	T	0.09538	2.97	4.85	3.84	0.44239	.	0.312693	0.38959	N	0.001510	T	0.10508	0.0257	L	0.44542	1.39	0.09310	N	1	B;B	0.20164	0.042;0.042	B;B	0.22880	0.042;0.028	T	0.21211	-1.0252	10	0.25751	T	0.34	-13.0326	12.2121	0.54386	0.0:0.918:0.0:0.082	.	86;86	Q8WTX7;B7WPJ3	GATL3_HUMAN;.	D	86;86;275	ENSP00000401535:G275D	ENSP00000385868:G86D	G	-	2	0	RP1-130H16.18;GATSL3	29013477	0.033000	0.19621	0.043000	0.18650	0.895000	0.52256	2.796000	0.47869	1.287000	0.44583	0.561000	0.74099	GGT		0.627	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320581.2	NM_001037666		24	38	24	38
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	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			23	44	23	44
IL6ST	3572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	55259245	55259245	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr5:55259245T>G	ENST00000381298.2	-	7	1060	c.748A>C	c.(748-750)Aag>Cag	p.K250Q	IL6ST_ENST00000536319.1_Missense_Mutation_p.K250Q|IL6ST_ENST00000381293.2_Missense_Mutation_p.K84Q|IL6ST_ENST00000381294.3_Missense_Mutation_p.K250Q|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.K250Q|IL6ST_ENST00000336909.5_Missense_Mutation_p.K250Q|IL6ST_ENST00000577363.1_5'Flank|IL6ST_ENST00000381287.4_Missense_Mutation_p.K250Q|IL6ST_ENST00000522633.2_Missense_Mutation_p.K250Q	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	250	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATAACACTCTTAATACTTGGG	0.343			O		hepatocellular ca																																		Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	0													91.0	93.0	93.0					5																	55259245		2203	4298	6501	SO:0001583	missense	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.748A>C	5.37:g.55259245T>G	ENSP00000370698:p.Lys250Gln		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	2.612	-0.290469	0.05568	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000381293;ENST00000522633;ENST00000542298	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.91	-7.41	0.01392	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.497503	0.22605	N	0.057918	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.28291	0.206;0.0;0.001;0.0	B;B;B;B	0.22601	0.04;0.001;0.001;0.002	T	0.32025	-0.9922	10	0.13108	T	0.6	.	5.7128	0.17945	0.0919:0.3851:0.3788:0.1441	.	84;250;250;250	Q5FC05;Q5FC04;P40189-2;P40189	.;.;.;IL6RB_HUMAN	Q	250;250;250;250;250;84;250;250	ENSP00000370698:K250Q;ENSP00000338799:K250Q;ENSP00000370694:K250Q;ENSP00000370687:K250Q;ENSP00000444456:K250Q;ENSP00000370693:K84Q;ENSP00000435399:K250Q	ENSP00000338799:K250Q	K	-	1	0	IL6ST	55295002	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.935000	0.01550	-1.237000	0.02539	0.533000	0.62120	AAG		0.343	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		5	42	5	42
MAP3K4	4216	hgsc.bcm.edu;broad.mit.edu	37	6	161528964	161528964	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:161528964T>G	ENST00000392142.4	+	21	4230	c.4082T>G	c.(4081-4083)aTc>aGc	p.I1361S	MAP3K4_ENST00000366920.2_Missense_Mutation_p.I1357S|MAP3K4_ENST00000366919.2_Missense_Mutation_p.I1311S|MAP3K4_ENST00000348824.7_Missense_Mutation_p.I1307S	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1361	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TACACCTGCATCAGCGTCGAC	0.552																																																0													102.0	87.0	93.0					6																	161528964		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4082T>G	6.37:g.161528964T>G	ENSP00000375986:p.Ile1361Ser		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617938	0.87359	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	4.8	4.8	0.61643	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	0.29223	0.0727	L	0.31207	0.915	0.80722	D	1	D;D;D;D	0.89917	0.995;0.996;0.999;1.0	D;P;D;D	0.87578	0.98;0.872;0.996;0.998	T	0.15263	-1.0443	10	0.87932	D	0	-24.8559	14.664	0.68893	0.0:0.0:0.0:1.0	.	1357;297;1311;1361	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	S	1311;1361;1311;1357;1307	ENSP00000355886:I1311S;ENSP00000375986:I1361S;ENSP00000355887:I1357S;ENSP00000297332:I1307S	ENSP00000297332:I1307S	I	+	2	0	MAP3K4	161448954	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.655000	0.83696	1.911000	0.55334	0.459000	0.35465	ATC		0.552	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			6	80	6	80
HBP1	26959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	106836571	106836571	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr7:106836571C>G	ENST00000222574.4	+	9	1546	c.1360C>G	c.(1360-1362)Cag>Gag	p.Q454E	HBP1_ENST00000468410.1_Missense_Mutation_p.Q454E|CTA-363E19.2_ENST00000607036.1_RNA|HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000485846.1_Missense_Mutation_p.Q454E	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	454					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TGAATATACTCAGATGTATCC	0.363																																																0													47.0	48.0	48.0					7																	106836571		2203	4300	6503	SO:0001583	missense	26959			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.1360C>G	7.37:g.106836571C>G	ENSP00000222574:p.Gln454Glu		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327419	0.81690	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D;D	0.97752	-4.52;-4.52;-4.52;-3.17	5.85	5.85	0.93711	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.97448	0.9165	N	0.19112	0.55	0.80722	D	1	D;P;D	0.67145	0.996;0.889;0.992	D;P;P	0.71414	0.973;0.534;0.846	D	0.98715	1.0706	10	0.66056	D	0.02	-12.7426	20.1576	0.98120	0.0:1.0:0.0:0.0	.	464;454;454	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	E	454;454;454;446	ENSP00000420500:Q454E;ENSP00000222574:Q454E;ENSP00000418738:Q454E;ENSP00000418017:Q446E	ENSP00000222574:Q454E	Q	+	1	0	HBP1	106623807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.875000	0.69660	2.773000	0.95371	0.650000	0.86243	CAG		0.363	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		23	33	23	33
MAPK15	225689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	144803509	144803509	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:144803509C>T	ENST00000338033.4	+	11	1251	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	378					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCTCAGCTGCCTTCTAGGAC	0.672																																																0													53.0	70.0	64.0					8																	144803509		1985	4146	6131	SO:0001583	missense	225689			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1132C>T	8.37:g.144803509C>T	ENSP00000337691:p.Pro378Ser		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	c	6.621	0.482935	0.12581	.	.	ENSG00000181085	ENST00000338033	T	0.73789	-0.78	2.91	-5.77	0.02369	.	1.843550	0.02743	N	0.116520	T	0.42314	0.1197	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.51060	-0.8753	10	0.02654	T	1	-20.3103	1.2113	0.01905	0.1525:0.2644:0.1505:0.4325	.	378	Q8TD08	MK15_HUMAN	S	378	ENSP00000337691:P378S	ENSP00000337691:P378S	P	+	1	0	MAPK15	144875497	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.533000	0.00219	-1.763000	0.01307	-0.444000	0.05651	CCT		0.672	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		68	113	68	113
DOT1L	84444	broad.mit.edu;ucsc.edu	37	19	2226268	2226268	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr19:2226268G>A	ENST00000398665.3	+	27	3784	c.3748G>A	c.(3748-3750)Gac>Aac	p.D1250N		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1250					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		GCCCATCTCCGACATCGGCCT	0.677																																																0													18.0	23.0	22.0					19																	2226268		2025	4178	6203	SO:0001583	missense	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3748G>A	19.37:g.2226268G>A	ENSP00000381657:p.Asp1250Asn		O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338884	0.95783	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.54675	0.84;0.56	4.41	4.41	0.53225	.	0.000000	0.64402	D	0.000001	T	0.70771	0.3262	M	0.66939	2.045	0.47994	D	0.999568	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.75399	-0.3331	10	0.87932	D	0	-35.9826	16.359	0.83246	0.0:0.0:1.0:0.0	.	1250;1250	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	N	1250;1250;130	ENSP00000381657:D1250N;ENSP00000407411:D130N	ENSP00000221482:D1250N	D	+	1	0	DOT1L	2177268	1.000000	0.71417	0.985000	0.45067	0.930000	0.56654	8.513000	0.90542	2.180000	0.69256	0.561000	0.74099	GAC		0.677	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		3	32	3	32
NEB	4703	broad.mit.edu;ucsc.edu	37	2	152409936	152409936	+	Silent	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr2:152409936C>T	ENST00000172853.10	-	99	14751	c.14604G>A	c.(14602-14604)aaG>aaA	p.K4868K	NEB_ENST00000604864.1_Silent_p.K6569K|NEB_ENST00000603639.1_Silent_p.K6569K|NEB_ENST00000409198.1_Silent_p.K4868K|NEB_ENST00000397345.3_Silent_p.K6569K|NEB_ENST00000427231.2_Silent_p.K6569K			P20929	NEBU_HUMAN	nebulin	4868					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)		CATAAGCATGCTTGGCATGGA	0.398																																																0													159.0	153.0	155.0					2																	152409936		1979	4157	6136	SO:0001819	synonymous_variant	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.14604G>A	2.37:g.152409936C>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		25	52	25	52
PRR19	284338	broad.mit.edu;ucsc.edu	37	19	42814088	42814088	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr19:42814088C>T	ENST00000499536.2	+	1	1163	c.352C>T	c.(352-354)Cca>Tca	p.P118S	PRR19_ENST00000598490.1_Missense_Mutation_p.P118S|PRR19_ENST00000341747.3_Missense_Mutation_p.P118S			A6NJB7	PRR19_HUMAN	proline rich 19	118										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GGAACCAGCCCCACGGTCCAG	0.672																																																0													35.0	44.0	41.0					19																	42814088		2203	4300	6503	SO:0001583	missense	284338			AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.352C>T	19.37:g.42814088C>T	ENSP00000445247:p.Pro118Ser		A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	ENST00000499536.2	37	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.964419	0.00461	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	4.29	-0.236	0.13067	.	1.209420	0.06283	N	0.697670	T	0.18593	0.0446	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.27297	-1.0078	9	0.12103	T	0.63	-3.8251	6.7197	0.23323	0.0:0.5998:0.0:0.4002	.	118;118	A6NJB7;A6NJB7-2	PRR19_HUMAN;.	S	118	.	ENSP00000342709:P118S	P	+	1	0	PRR19	47505928	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.806000	0.04525	-0.031000	0.13781	-0.254000	0.11334	CCA		0.672	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		5	22	5	22
TREX1	11277	broad.mit.edu;hgsc.bcm.edu	37	3	48508260	48508261	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:48508260_48508261delTG	ENST00000422277.2	+	1	1032_1033	c.371_372delTG	c.(370-372)ctgfs	p.L124fs	TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000296443.9_Frame_Shift_Del_p.L69fs|TREX1_ENST00000436480.2_Frame_Shift_Del_p.L69fs|TREX1_ENST00000444177.1_Frame_Shift_Del_p.L59fs|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000433541.1_5'UTR|SHISA5_ENST00000465449.1_5'Flank	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	124					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AAGCTCTCCCTGTGTGTGGCTC	0.634																																																0																																										SO:0001589	frameshift_variant	11277			AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.371_372delTG	3.37:g.48508266_48508267delTG	ENSP00000390478:p.Leu124fs		B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Frame_Shift_Del	DEL	ENST00000422277.2	37	CCDS43086.1																																																																																				0.634	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		67	145	67	145
ZBTB20	26137	broad.mit.edu;hgsc.bcm.edu	37	3	114058232	114058234	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:114058232_114058234delAGA	ENST00000474710.1	-	5	2022_2024	c.1844_1846delTCT	c.(1843-1848)ttctcc>tcc	p.F615del	ZBTB20_ENST00000464560.1_In_Frame_Del_p.F542del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.F542del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.F542del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.F542del|ZBTB20_ENST00000462705.1_In_Frame_Del_p.F542del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.F542del	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	615						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCCTTTAAGGAGAAGGAGCGCCA	0.502																																					NSCLC(69;748 1344 9802 11203 30933)											0																																										SO:0001651	inframe_deletion	26137			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1844_1846delTCT	3.37:g.114058232_114058234delAGA	ENSP00000419153:p.Phe615del		Q63HP6|Q8N6R5|Q9Y410	In_Frame_Del	DEL	ENST00000474710.1	37	CCDS54626.1																																																																																				0.502	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		28	66	28	66
MBD4	8930	broad.mit.edu;hgsc.bcm.edu	37	3	129155397	129155399	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:129155397_129155399delCTT	ENST00000249910.1	-	3	1263_1265	c.1088_1090delAAG	c.(1087-1092)gaagtt>gtt	p.E363del	MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000507208.1_In_Frame_Del_p.E363del|MBD4_ENST00000503197.1_In_Frame_Del_p.E363del|MBD4_ENST00000429544.2_In_Frame_Del_p.E363del	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	363					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTTTCCACAACTTCTACTTTTGT	0.384								Base excision repair (BER), DNA glycosylases																																								0																																										SO:0001651	inframe_deletion	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1088_1090delAAG	3.37:g.129155397_129155399delCTT	ENSP00000249910:p.Glu363del		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	In_Frame_Del	DEL	ENST00000249910.1	37	CCDS3058.1																																																																																				0.384	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		24	53	24	53
DST	667	broad.mit.edu;hgsc.bcm.edu	37	6	56336894	56336896	+	In_Frame_Del	DEL	CTT	CTT	-	rs192453671	byFrequency	TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:56336894_56336896delCTT	ENST00000361203.3	-	89	21166_21168	c.21159_21161delAAG	c.(21157-21162)agaagg>agg	p.7053_7054RR>R	DST_ENST00000446842.2_In_Frame_Del_p.6838_6839RR>R|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_In_Frame_Del_p.4967_4968RR>R|DST_ENST00000370769.4_In_Frame_Del_p.7164_7165RR>R|DST_ENST00000370754.5_In_Frame_Del_p.7342_7343RR>R|DST_ENST00000244364.6_In_Frame_Del_p.4750_4751RR>R			Q03001	DYST_HUMAN	dystonin	7162					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGTTTCCTCCTTCTTTCCAACG	0.453																																																0																																										SO:0001651	inframe_deletion	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21159_21161delAAG	6.37:g.56336897_56336899delCTT	ENSP00000354508:p.Arg7055del		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	In_Frame_Del	DEL	ENST00000361203.3	37																																																																																					0.453	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		47	103	47	103
EFR3A	23167	broad.mit.edu;hgsc.bcm.edu	37	8	132968053	132968055	+	In_Frame_Del	DEL	AAG	AAG	-	rs138896182		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:132968053_132968055delAAG	ENST00000254624.5	+	7	902_904	c.677_679delAAG	c.(676-681)aaagaa>aaa	p.E228del	EFR3A_ENST00000334503.4_In_Frame_Del_p.E228del|EFR3A_ENST00000519656.1_In_Frame_Del_p.E192del	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	228						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCAACTGACAAAGAAGAGAATCC	0.384																																																0																																										SO:0001651	inframe_deletion	23167			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.677_679delAAG	8.37:g.132968056_132968058delAAG	ENSP00000254624:p.Glu228del		A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	In_Frame_Del	DEL	ENST00000254624.5	37	CCDS34942.2																																																																																				0.384	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		35	106	35	106
NOTCH1	4851	broad.mit.edu;hgsc.bcm.edu	37	9	139413129	139413131	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr9:139413129_139413131delTCA	ENST00000277541.6	-	6	1086_1088	c.1011_1013delTGA	c.(1009-1014)gatgac>gac	p.337_338DD>D	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	337	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGGCACAGTCATCAATGTTCT	0.631			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0																																										SO:0001651	inframe_deletion	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1011_1013delTGA	9.37:g.139413132_139413134delTCA	ENSP00000277541:p.Asp338del		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	CCDS43905.1																																																																																				0.631	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		14	45	14	45
