#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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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_type
ERRFI1	54206	broad.mit.edu	37	1	8074100	8074100	+	Missense_Mutation	SNP	T	T	C	rs141040294		TCGA-13-0891-01	TCGA-13-0891-10			T	C	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr1:8074100T>C	ENST00000377482.5	-	4	782	c.559A>G	c.(559-561)Aca>Gca	p.T187A	ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	187					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)	p.T187A(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TCAGAAAGTGTAGAGTCTTCT	0.458																																																1	Substitution - Missense(1)	ovary(1)	1						T	ALA/THR	0,4406		0,0,2203	60.0	62.0	61.0		559	-4.7	0.0	1	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	ERRFI1	NM_018948.3	58	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	187/463	8074100	1,13005	2203	4300	6503	7996687	SO:0001583	missense	54206			BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.559A>G	1.37:g.8074100T>C	ENSP00000366702:p.Thr187Ala		7996687	B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	CCDS94.1	SNP	57	Broad	.	.	.	.	.	.	.	.	.	.	T	4.701	0.130363	0.08981	0.0	1.16E-4	ENSG00000116285	ENST00000377482	T	0.71817	-0.6	5.26	-4.67	0.03319	.	0.849652	0.10589	N	0.656985	T	0.44414	0.1292	N	0.16478	0.41	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.39522	-0.9610	10	0.08599	T	0.76	-15.0722	8.3732	0.32427	0.1119:0.5279:0.0:0.3603	.	187	Q9UJM3	ERRFI_HUMAN	A	187	ENSP00000366702:T187A	ENSP00000366702:T187A	T	-	1	0	ERRFI1	7996687	0.000000	0.05858	0.000000	0.03702	0.819000	0.46315	0.477000	0.22196	-0.463000	0.06973	0.459000	0.35465	ACA		0.458	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		Missense_Mutation
THRAP3	9967	broad.mit.edu	37	1	36752576	36752576	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0891-01	TCGA-13-0891-10			C	G	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr1:36752576C>G	ENST00000354618.5	+	4	969	c.745C>G	c.(745-747)Cca>Gca	p.P249A	THRAP3_ENST00000469141.2_Missense_Mutation_p.P249A	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	249	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.P249A(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGAGCGAAGCCCAGCTCTCAA	0.612			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	1	Substitution - Missense(1)	ovary(1)	1											47.0	47.0	47.0					1																	36752576		2203	4300	6503	36525163	SO:0001583	missense	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.745C>G	1.37:g.36752576C>G	ENSP00000346634:p.Pro249Ala		36525163	D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852809	0.71719	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.14391	2.51;2.51	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.36082	0.0954	L	0.54323	1.7	0.51233	D	0.999916	D	0.76494	0.999	D	0.83275	0.996	T	0.01290	-1.1394	10	0.72032	D	0.01	-4.6577	19.1531	0.93496	0.0:1.0:0.0:0.0	.	249	Q9Y2W1	TR150_HUMAN	A	249	ENSP00000346634:P249A;ENSP00000433825:P249A	ENSP00000346634:P249A	P	+	1	0	THRAP3	36525163	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.160000	0.50739	2.753000	0.94483	0.655000	0.94253	CCA		0.612	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		Missense_Mutation
EPHA10	284656	broad.mit.edu	37	1	38186021	38186022	+	Splice_Site	DNP	AC	AC	CT			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr1:38186021_38186022AC>CT	ENST00000373048.4	-	13	2412		c.e13+1		EPHA10_ENST00000330210.7_Splice_Site|EPHA10_ENST00000427468.2_Splice_Site|EPHA10_ENST00000540011.1_Splice_Site|EPHA10_ENST00000446149.2_Splice_Site	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10						ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGCGCCCTCACCATAGTGGTG	0.644																																																0			1																																								37958609	SO:0001630	splice_region_variant	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2413_2413delinsCT	1.37:g.38186021_38186022delinsCT			37958608	A4FU89|J3KPB5|Q6NW42	Splice_Site_SNP	DNP	ENST00000373048.4	37	CCDS41305.1	DNP	6	Broad																																																																																				0.644	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	Intron	Splice_Site_SNP
MAST2	23139	broad.mit.edu	37	1	46489482	46489482	+	Missense_Mutation	SNP	G	G	A	rs200134348	byFrequency	TCGA-13-0891-01	TCGA-13-0891-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr1:46489482G>A	ENST00000361297.2	+	15	1893	c.1610G>A	c.(1609-1611)cGc>cAc	p.R537H	MAST2_ENST00000372009.2_Missense_Mutation_p.R467H	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.R537H(2)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACCCGGCAGCGCTTTGCCATG	0.577													G|||	3	0.000599042	0.0	0.0043	5008	,	,		20495	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	ovary(2)	1											76.0	76.0	76.0					1																	46489482		2203	4300	6503	46262069	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1610G>A	1.37:g.46489482G>A	ENSP00000354671:p.Arg537His		46262069		Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	SNP	38	Broad	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	G	33	5.228884	0.95173	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.66460	-0.21;-0.21;-0.21	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052387	0.85682	D	0.000000	T	0.67344	0.2883	N	0.21617	0.685	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0	D;P;D;D;D	0.91635	0.985;0.674;0.985;0.989;0.999	T	0.75502	-0.3295	10	0.87932	D	0	-19.5952	19.526	0.95206	0.0:0.0:1.0:0.0	.	211;467;211;467;537	B3KU51;Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;.;MAST2_HUMAN	H	537;467;211;422	ENSP00000354671:R537H;ENSP00000361079:R467H;ENSP00000361078:R422H	ENSP00000354671:R537H	R	+	2	0	MAST2	46262069	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.967000	0.87967	2.704000	0.92352	0.484000	0.47621	CGC		0.577	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		Missense_Mutation
ANK3	288	broad.mit.edu	37	10	61834058	61834058	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr10:61834058G>C	ENST00000280772.2	-	37	6772	c.6581C>G	c.(6580-6582)cCt>cGt	p.P2194R	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2194					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.P2194R(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGAAGGTTTAGGTGACACAGG	0.433																																																1	Substitution - Missense(1)	ovary(1)	10											119.0	119.0	119.0					10																	61834058		2203	4300	6503	61504064	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6581C>G	10.37:g.61834058G>C	ENSP00000280772:p.Pro2194Arg		61504064	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	14.01	2.409004	0.42715	.	.	ENSG00000151150	ENST00000280772	T	0.63096	-0.02	5.93	5.04	0.67666	.	0.000000	0.41605	D	0.000842	T	0.53238	0.1784	L	0.55481	1.735	0.80722	D	1	P	0.37015	0.578	B	0.30782	0.12	T	0.56269	-0.8007	10	0.48119	T	0.1	.	11.1508	0.48458	0.14:0.0:0.86:0.0	.	2194	Q12955	ANK3_HUMAN	R	2194	ENSP00000280772:P2194R	ENSP00000280772:P2194R	P	-	2	0	ANK3	61504064	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	3.365000	0.52335	1.527000	0.49086	0.643000	0.83706	CCT		0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		Missense_Mutation
CCAR1	55749	broad.mit.edu	37	10	70502218	70502218	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr10:70502218C>G	ENST00000265872.6	+	6	529	c.410C>G	c.(409-411)tCc>tGc	p.S137C	CCAR1_ENST00000543719.1_Missense_Mutation_p.S122C|CCAR1_ENST00000535016.1_Missense_Mutation_p.S122C	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	137					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.S137C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ACACCAAGGTCCAGTCAACAG	0.438																																																1	Substitution - Missense(1)	ovary(1)	10											222.0	186.0	198.0					10																	70502218		2203	4300	6503	70172224	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.410C>G	10.37:g.70502218C>G	ENSP00000265872:p.Ser137Cys		70172224	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865115	0.71949	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000538031;ENST00000543719;ENST00000539539;ENST00000543225	T;T;T;T;T	0.31510	1.49;1.85;1.85;1.85;1.87	5.82	5.82	0.92795	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	N	0.24115	0.695	0.58432	D	0.999996	D;D;D	0.89917	0.994;0.999;1.0	D;D;D	0.71656	0.929;0.974;0.964	T	0.42207	-0.9465	10	0.72032	D	0.01	-6.379	20.1086	0.97902	0.0:1.0:0.0:0.0	.	122;137;111	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	C	137;122;137;122;122;111	ENSP00000265872:S137C;ENSP00000441820:S122C;ENSP00000445254:S122C;ENSP00000439252:S122C;ENSP00000438610:S111C	ENSP00000265872:S137C	S	+	2	0	CCAR1	70172224	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.024000	0.70857	2.756000	0.94617	0.563000	0.77884	TCC		0.438	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		Missense_Mutation
OPN4	94233	broad.mit.edu	37	10	88418418	88418418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr10:88418418G>A	ENST00000241891.5	+	4	769	c.602G>A	c.(601-603)tGg>tAg	p.W201*	OPN4_ENST00000372071.2_Nonsense_Mutation_p.W212*	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	201					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)	p.W212*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCCCTGGCCTGGAGTCTGCCA	0.622																																																1	Substitution - Nonsense(1)	ovary(1)	10											59.0	56.0	57.0					10																	88418418		2203	4300	6503	88408398	SO:0001587	stop_gained	94233			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.602G>A	10.37:g.88418418G>A	ENSP00000241891:p.Trp201*		88408398	B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Nonsense_Mutation	SNP	ENST00000241891.5	37	CCDS7376.1	SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	39	7.381874	0.98248	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	.	.	.	5.22	5.22	0.72569	.	0.064528	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7781	0.91920	0.0:0.0:1.0:0.0	.	.	.	.	X	212;201;212	.	ENSP00000241891:W201X	W	+	2	0	OPN4	88408398	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.954000	0.87848	2.434000	0.82447	0.561000	0.74099	TGG		0.622	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		Nonsense_Mutation
NUMA1	4926	broad.mit.edu	37	11	71727225	71727225	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr11:71727225C>T	ENST00000393695.3	-	15	1655	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.E442K|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.E442K(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGCCTCGCTCAGTCTCCAGC	0.547			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	1	Substitution - Missense(1)	ovary(1)	11											74.0	72.0	73.0					11																	71727225		2200	4293	6493	71404873	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1324G>A	11.37:g.71727225C>T	ENSP00000377298:p.Glu442Lys	1132	71404873		Missense_Mutation	SNP	ENST00000393695.3	37	CCDS31633.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	9.967	1.224411	0.22457	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000542977;ENST00000537217	T;T;T;T	0.46819	2.59;2.61;1.42;0.86	5.76	3.9	0.45041	.	0.343398	0.28908	N	0.013746	T	0.41511	0.1162	L	0.49126	1.545	0.18873	N	0.999989	B;B;B	0.14805	0.011;0.003;0.006	B;B;B	0.13407	0.009;0.007;0.009	T	0.36744	-0.9735	10	0.52906	T	0.07	.	10.6635	0.45717	0.0:0.6829:0.2486:0.0684	.	448;442;442	Q4LE64;Q14980-2;Q14980	.;.;NUMA1_HUMAN	K	442;442;5;442;442	ENSP00000351851:E442K;ENSP00000377298:E442K;ENSP00000444880:E442K;ENSP00000442936:E442K	ENSP00000351851:E442K	E	-	1	0	NUMA1	71404873	0.995000	0.38212	0.295000	0.24960	0.017000	0.09413	3.629000	0.54266	0.790000	0.33803	-0.171000	0.13296	GAG		0.547	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			Missense_Mutation
ING4	51147	broad.mit.edu	37	12	6762177	6762177	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0891-01	TCGA-13-0891-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr12:6762177G>A	ENST00000396807.4	-	4	354	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	ING4_ENST00000341550.4_Missense_Mutation_p.R106C|ING4_ENST00000446105.2_Missense_Mutation_p.R106C|ING4_ENST00000444704.2_Missense_Mutation_p.R82C|ING4_ENST00000412586.2_Missense_Mutation_p.R106C|ING4_ENST00000423703.2_Missense_Mutation_p.R106C|ING4_ENST00000486287.1_5'UTR	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	106					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R106C(1)		central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						GCCTCAAAACGGGCCAGGTCT	0.493																																																1	Substitution - Missense(1)	ovary(1)	12											61.0	62.0	62.0					12																	6762177		2203	4300	6503	6632438	SO:0001583	missense	51147			AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"""Zinc fingers, PHD-type"""	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.316C>T	12.37:g.6762177G>A	ENSP00000380024:p.Arg106Cys		6632438	A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Missense_Mutation	SNP	ENST00000396807.4	37	CCDS44813.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013698	0.75161	.	.	ENSG00000111653	ENST00000341550;ENST00000396807;ENST00000446105;ENST00000444704;ENST00000423703;ENST00000412586	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.63	4.63	0.57726	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65595	0.2706	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;0.998	D;D;P;D;D;P	0.79784	0.968;0.967;0.707;0.95;0.993;0.807	T	0.70905	-0.4745	10	0.87932	D	0	0.258	17.7033	0.88301	0.0:0.0:1.0:0.0	.	82;106;106;106;106;106	Q9UNL4-3;A4KYM6;Q9UNL4-4;Q9UNL4-5;Q9UNL4;Q4VBQ6	.;.;.;.;ING4_HUMAN;.	C	106;106;106;82;106;106	ENSP00000343396:R106C;ENSP00000380024:R106C;ENSP00000415903:R106C;ENSP00000397343:R82C;ENSP00000412705:R106C	ENSP00000343396:R106C	R	-	1	0	ING4	6632438	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.338000	0.79269	2.400000	0.81607	0.655000	0.94253	CGT		0.493	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280467.2	NM_198287		Missense_Mutation
CLEC1A	51267	broad.mit.edu	37	12	10233859	10233859	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr12:10233859C>T	ENST00000315330.4	-	3	430	c.368G>A	c.(367-369)cGt>cAt	p.R123H	CLEC1A_ENST00000457018.2_Missense_Mutation_p.R90H|CLEC1A_ENST00000420265.2_Intron|RN7SKP161_ENST00000411110.1_RNA	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	123					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R123H(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						ATACAGCTCACGACAGAGTTT	0.463																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	12											109.0	112.0	111.0					12																	10233859		2203	4300	6503	10125126	SO:0001583	missense	51267			AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.368G>A	12.37:g.10233859C>T	ENSP00000326407:p.Arg123His		10125126	Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	CCDS8612.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946124	0.73672	.	.	ENSG00000150048	ENST00000315330;ENST00000457018	T;T	0.17370	2.28;2.28	5.06	3.2	0.36748	.	0.159238	0.30752	N	0.008952	T	0.33818	0.0876	M	0.69823	2.125	0.53688	D	0.99997	D;D	0.76494	0.999;0.999	P;D	0.72338	0.828;0.977	T	0.02244	-1.1189	10	0.38643	T	0.18	.	7.6201	0.28181	0.0:0.8287:0.0:0.1713	.	90;123	E9PFB4;Q8NC01	.;CLC1A_HUMAN	H	123;90	ENSP00000326407:R123H;ENSP00000415048:R90H	ENSP00000326407:R123H	R	-	2	0	CLEC1A	10125126	0.991000	0.36638	0.786000	0.31890	0.940000	0.58332	1.300000	0.33436	2.330000	0.79161	0.563000	0.77884	CGT		0.463	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511		Missense_Mutation
KNTC1	9735	broad.mit.edu	37	12	123087765	123087765	+	Silent	SNP	C	C	T			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr12:123087765C>T	ENST00000333479.7	+	48	5253	c.5076C>T	c.(5074-5076)atC>atT	p.I1692I	KNTC1_ENST00000537348.1_Silent_p.I117I|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1692					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.I1692I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTATTGCCATCAGCCTTGCCC	0.393																																																1	Substitution - coding silent(1)	ovary(1)	12											49.0	45.0	46.0					12																	123087765		1845	4087	5932	121653718	SO:0001819	synonymous_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5076C>T	12.37:g.123087765C>T			121653718	A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	CCDS45002.1	SNP	29	Broad																																																																																				0.393	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			Silent
MAB21L1	4081	broad.mit.edu	37	13	36049848	36049848	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr13:36049848C>T	ENST00000379919.4	-	1	984	c.428G>A	c.(427-429)tGt>tAt	p.C143Y	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	143					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.C143Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CCGGTAGCTACATTTGTCTAC	0.547																																																1	Substitution - Missense(1)	ovary(1)	13											66.0	65.0	65.0					13																	36049848		2203	4300	6503	34947848	SO:0001583	missense	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.428G>A	13.37:g.36049848C>T	ENSP00000369251:p.Cys143Tyr		34947848	Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	CCDS9353.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037839	0.75617	.	.	ENSG00000180660	ENST00000379919	T	0.07800	3.16	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	L	0.57536	1.79	0.80722	D	1	D	0.58970	0.984	P	0.54174	0.744	T	0.04017	-1.0984	10	0.13470	T	0.59	-12.6505	19.7375	0.96212	0.0:1.0:0.0:0.0	.	143	Q13394	MB211_HUMAN	Y	143	ENSP00000369251:C143Y	ENSP00000369251:C143Y	C	-	2	0	MAB21L1	34947848	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	TGT		0.547	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		Missense_Mutation
OR4K5	79317	broad.mit.edu	37	14	20389056	20389056	+	Silent	SNP	C	C	T			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr14:20389056C>T	ENST00000315915.4	+	1	316	c.291C>T	c.(289-291)tgC>tgT	p.C97C		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C97C(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCAGTGGCTGCATAGCCCAAA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	14											245.0	261.0	255.0					14																	20389056		2203	4300	6503	19458896	SO:0001819	synonymous_variant	79317			BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.291C>T	14.37:g.20389056C>T			19458896	Q6IFA7	Silent	SNP	ENST00000315915.4	37	CCDS32024.1	SNP	25	Broad																																																																																				0.418	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		Silent
TGM7	116179	broad.mit.edu	37	15	43584907	43584907	+	Splice_Site	SNP	C	C	A			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr15:43584907C>A	ENST00000452443.2	-	3	443	c.439G>T	c.(439-441)Gag>Tag	p.E147*		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	147					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CACATCCTACCTGGACTCCAA	0.468																																																0			15											120.0	129.0	126.0					15																	43584907		2201	4299	6500	41372199	SO:0001630	splice_region_variant	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.439+1G>T	15.37:g.43584907C>A			41372199		Nonsense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358353	0.41801	.	.	ENSG00000159495	ENST00000452443	.	.	.	5.31	5.31	0.75309	.	0.110361	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.5588	16.8302	0.85942	0.0:1.0:0.0:0.0	.	.	.	.	X	147	.	.	E	-	1	0	TGM7	41372199	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	4.880000	0.63107	2.663000	0.90544	0.555000	0.69702	GAG		0.468	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955	Nonsense_Mutation	Nonsense_Mutation
PKD1L2	114780	broad.mit.edu	37	16	81253841	81253841	+	RNA	SNP	G	G	A	rs529919593		TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr16:81253841G>A	ENST00000525539.1	-	0	134				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.L45L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGGTGCGTCCGAGTGGCACAA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		21746	0.0		0.0	False		,,,				2504	0.001															1	Substitution - coding silent(1)	ovary(1)	16											101.0	99.0	100.0					16																	81253841		2037	4190	6227	79811342			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81253841G>A			79811342	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37		SNP	37	Broad																																																																																				0.557	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			Silent
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102.0	94.0	97.0					17																	7578190		2203	4300	6503	7518915	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		7518915	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	SNP	49	Broad	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
MAP2K3	5606	broad.mit.edu	37	17	21203935	21203935	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr17:21203935C>T	ENST00000342679.4	+	4	493	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	MAP2K3_ENST00000361818.5_Missense_Mutation_p.R53W|MAP2K3_ENST00000316920.6_Missense_Mutation_p.R53W	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R86W(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AGAGAAGGTGCGGCACGCCCA	0.617																																																1	Substitution - Missense(1)	ovary(1)	17											55.0	50.0	52.0					17																	21203935		2203	4299	6502	21144528	SO:0001583	missense	5606			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.244C>T	17.37:g.21203935C>T	ENSP00000345083:p.Arg82Trp		21144528	B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	CCDS11217.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303408	0.40795	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000526076;ENST00000316920	T;T;D	0.89939	0.95;0.95;-2.59	5.47	4.49	0.54785	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	0.64402	D	0.000010	D	0.93520	0.7932	M	0.77103	2.36	0.53005	D	0.999963	D	0.89917	1.0	D	0.67900	0.954	D	0.93119	0.6523	10	0.41790	T	0.15	-19.3608	14.7614	0.69610	0.262:0.738:0.0:0.0	.	82	P46734	MP2K3_HUMAN	W	82;53;53;53;86	ENSP00000345083:R82W;ENSP00000355081:R53W;ENSP00000434068:R53W	ENSP00000319139:R86W	R	+	1	2	MAP2K3	21144528	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.986000	0.56937	1.309000	0.44985	-0.169000	0.13324	CGG		0.617	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		Missense_Mutation
GRIN2C	2905	broad.mit.edu	37	17	72842205	72842205	+	Splice_Site	SNP	C	C	T			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr17:72842205C>T	ENST00000293190.5	-	11	2496	c.2350G>A	c.(2350-2352)Gga>Aga	p.G784R	GRIN2C_ENST00000347612.4_Splice_Site_p.G784R	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	784					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.G784R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGTACCCACCGTCCCCCAGG	0.607																																																1	Substitution - Missense(1)	ovary(1)	17											128.0	107.0	114.0					17																	72842205		2203	4300	6503	70353800	SO:0001630	splice_region_variant	2905				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2350+1G>A	17.37:g.72842205C>T			70353800	B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	CCDS32724.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405349	0.42715	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.66460	-0.21	4.21	3.24	0.37175	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.058852	0.64402	N	0.000002	T	0.78457	0.4286	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.78262	-0.2272	9	.	.	.	.	11.8662	0.52495	0.0:0.9133:0.0:0.0867	.	818;784	Q8IW23;Q14957	.;NMDE3_HUMAN	R	784;818	ENSP00000293190:G784R	.	G	-	1	0	GRIN2C	70353800	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	7.599000	0.82757	1.115000	0.41800	0.561000	0.74099	GGA		0.607	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1		Missense_Mutation	Missense_Mutation
CTIF	9811	broad.mit.edu	37	18	46385824	46385824	+	Missense_Mutation	SNP	G	G	A	rs369410150		TCGA-13-0891-01	TCGA-13-0891-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr18:46385824G>A	ENST00000256413.3	+	12	1986	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	CTIF_ENST00000382998.4_Missense_Mutation_p.R566Q	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	564	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.R564Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						ATGCTGACCCGGTCGCTGCTC	0.602																																																1	Substitution - Missense(1)	ovary(1)	18						G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	87.0	80.0	83.0		1697,1691	5.1	1.0	18		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CTIF	NM_001142397.1,NM_014772.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	566/601,564/599	46385824	1,13005	2203	4300	6503	44639822	SO:0001583	missense	9811			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1691G>A	18.37:g.46385824G>A	ENSP00000256413:p.Arg564Gln		44639822	B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	CCDS11935.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	34	5.353780	0.95830	0.0	1.16E-4	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.28454	1.61;1.61	5.07	5.07	0.68467	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	L	0.48986	1.54	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79108	0.992;0.962	T	0.51679	-0.8675	10	0.59425	D	0.04	-22.5623	18.0457	0.89331	0.0:0.0:1.0:0.0	.	566;564	O43310-2;O43310	.;CTIF_HUMAN	Q	564;566;516	ENSP00000256413:R564Q;ENSP00000372459:R566Q	ENSP00000256413:R564Q	R	+	2	0	CTIF	44639822	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.832000	0.99423	2.382000	0.81193	0.561000	0.74099	CGG		0.602	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		Missense_Mutation
EVI5L	115704	broad.mit.edu	37	19	7912660	7912660	+	Silent	SNP	C	C	T	rs373550043		TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr19:7912660C>T	ENST00000270530.4	+	3	376	c.180C>T	c.(178-180)ggC>ggT	p.G60G	EVI5L_ENST00000538904.2_Silent_p.G60G	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	60					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.G60G(1)		breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CCATGAATGGCTCGCGGCGGA	0.657																																																1	Substitution - coding silent(1)	ovary(1)	19						C	,	0,4406		0,0,2203	44.0	44.0	44.0		180,180	1.5	1.0	19		44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EVI5L	NM_001159944.1,NM_145245.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	60/806,60/795	7912660	1,13005	2203	4300	6503	7818660	SO:0001819	synonymous_variant	115704			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.180C>T	19.37:g.7912660C>T			7818660	B9A6I9	Silent	SNP	ENST00000270530.4	37	CCDS12188.1	SNP	28	Broad																																																																																				0.657	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		Silent
KCNF1	3754	broad.mit.edu	37	2	11053928	11053928	+	Missense_Mutation	SNP	A	A	C			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr2:11053928A>C	ENST00000295082.1	+	1	1866	c.1376A>C	c.(1375-1377)aAg>aCg	p.K459T		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	459					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.K459T(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCTGCGGGGAAGGAGGCGCCG	0.672																																																1	Substitution - Missense(1)	ovary(1)	2											17.0	22.0	21.0					2																	11053928		2200	4295	6495	10971379	SO:0001583	missense	3754			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1376A>C	2.37:g.11053928A>C	ENSP00000295082:p.Lys459Thr		10971379	O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	CCDS1676.1	SNP	3	Broad	.	.	.	.	.	.	.	.	.	.	A	0.202	-1.043791	0.01997	.	.	ENSG00000162975	ENST00000295082	D	0.98105	-4.72	5.45	3.05	0.35203	.	0.969283	0.08510	N	0.935038	D	0.91693	0.7374	N	0.08118	0	0.09310	N	0.999999	B	0.11235	0.004	B	0.11329	0.006	D	0.83539	0.0095	10	0.15499	T	0.54	.	5.8629	0.18759	0.774:0.0:0.0791:0.1469	.	459	Q9H3M0	KCNF1_HUMAN	T	459	ENSP00000295082:K459T	ENSP00000295082:K459T	K	+	2	0	KCNF1	10971379	0.462000	0.25791	0.041000	0.18516	0.008000	0.06430	1.128000	0.31369	0.438000	0.26450	0.533000	0.62120	AAG		0.672	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		Missense_Mutation
C2orf71	388939	broad.mit.edu	37	2	29296288	29296288	+	Silent	SNP	C	C	A			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr2:29296288C>A	ENST00000331664.5	-	1	839	c.840G>T	c.(838-840)gtG>gtT	p.V280V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	280					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.V280V(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGCCATTGAGCACCTGCAGCT	0.562																																																1	Substitution - coding silent(1)	ovary(1)	2											76.0	79.0	78.0					2																	29296288		2051	4204	6255	29149792	SO:0001819	synonymous_variant	388939				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.840G>T	2.37:g.29296288C>A			29149792		Silent	SNP	ENST00000331664.5	37	CCDS42669.1	SNP	25	Broad																																																																																				0.562	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		Silent
IL17RB	55540	broad.mit.edu	37	3	53882694	53882694	+	Missense_Mutation	SNP	G	G	A	rs140254923	byFrequency	TCGA-13-0891-01	TCGA-13-0891-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr3:53882694G>A	ENST00000288167.3	+	2	73	c.64G>A	c.(64-66)Gtt>Att	p.V22I	CHDH_ENST00000315251.6_5'Flank	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	22					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)	p.V22I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCCACAGACCGTTCAATGTGG	0.443																																																1	Substitution - Missense(1)	ovary(1)	3						G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	219.0	211.0	214.0		64	-1.0	0.5	3	dbSNP_134	214	0,8600		0,0,4300	yes	missense	IL17RB	NM_018725.3	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	22/503	53882694	3,13003	2203	4300	6503	53857734	SO:0001583	missense	55540			AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.64G>A	3.37:g.53882694G>A	ENSP00000288167:p.Val22Ile		53857734	Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	CCDS2874.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.058681	0.00390	6.81E-4	0.0	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.21932	1.98;1.98	4.78	-1.02	0.10135	.	0.540098	0.16404	N	0.215883	T	0.03959	0.0111	N	0.00237	-1.79	0.21020	N	0.999804	B	0.02656	0.0	B	0.04013	0.001	T	0.45041	-0.9288	10	0.13853	T	0.58	-4.1142	8.867	0.35291	0.7376:0.0:0.2624:0.0	.	22	Q9NRM6	I17RB_HUMAN	I	22	ENSP00000288167:V22I;ENSP00000418638:V22I	ENSP00000288167:V22I	V	+	1	0	IL17RB	53857734	0.867000	0.29959	0.529000	0.27951	0.009000	0.06853	0.120000	0.15647	-0.172000	0.10779	-1.697000	0.00723	GTT		0.443	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		Missense_Mutation
IGSF10	285313	broad.mit.edu	37	3	151165416	151165416	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr3:151165416G>C	ENST00000282466.3	-	4	2352	c.2353C>G	c.(2353-2355)Caa>Gaa	p.Q785E		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	785					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.Q785E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTGGGAGTTGGGTGACCACT	0.507																																																1	Substitution - Missense(1)	ovary(1)	3											83.0	77.0	79.0					3																	151165416		2203	4300	6503	152648106	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2353C>G	3.37:g.151165416G>C	ENSP00000282466:p.Gln785Glu		152648106	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	0.098	-1.156009	0.01686	.	.	ENSG00000152580	ENST00000282466	T	0.67171	-0.25	5.31	5.31	0.75309	.	0.368557	0.19853	N	0.104584	T	0.54727	0.1876	L	0.50333	1.59	0.09310	N	1	B	0.15473	0.013	B	0.16289	0.015	T	0.43376	-0.9395	10	0.06757	T	0.87	.	9.9717	0.41759	0.0:0.1297:0.6103:0.26	.	785	Q6WRI0	IGS10_HUMAN	E	785	ENSP00000282466:Q785E	ENSP00000282466:Q785E	Q	-	1	0	IGSF10	152648106	0.272000	0.24172	0.009000	0.14445	0.017000	0.09413	3.274000	0.51631	2.474000	0.83562	0.591000	0.81541	CAA		0.507	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		Missense_Mutation
PPARGC1A	10891	broad.mit.edu	37	4	23797452	23797452	+	Missense_Mutation	SNP	C	C	T	rs200187877		TCGA-13-0891-01	TCGA-13-0891-10			C	T	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr4:23797452C>T	ENST00000264867.2	-	13	2509	c.2390G>A	c.(2389-2391)cGc>cAc	p.R797H	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	797	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.R797H(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATGTTACCTGCGCAAGCTTCT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		19968	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(29;694 744 13796 34866 44181)											1	Substitution - Missense(1)	ovary(1)	4						C	HIS/ARG	0,4406		0,0,2203	110.0	100.0	103.0		2390	5.4	1.0	4		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPARGC1A	NM_013261.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	797/799	23797452	1,13005	2203	4300	6503	23406550	SO:0001583	missense	10891			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2390G>A	4.37:g.23797452C>T	ENSP00000264867:p.Arg797His		23406550	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	CCDS3429.1	SNP	27	Broad	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.49	3.403546	0.62288	0.0	1.16E-4	ENSG00000109819	ENST00000264867	T	0.33865	1.39	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.45994	0.1370	N	0.25485	0.75	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.14699	-1.0463	10	0.10902	T	0.67	-7.0206	19.5823	0.95473	0.0:1.0:0.0:0.0	.	797	Q9UBK2	PRGC1_HUMAN	H	797	ENSP00000264867:R797H	ENSP00000264867:R797H	R	-	2	0	PPARGC1A	23406550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.050000	0.71063	2.695000	0.91970	0.655000	0.94253	CGC		0.458	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		Missense_Mutation
UNC5C	8633	broad.mit.edu	37	4	96199475	96199475	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr4:96199475C>T	ENST00000453304.1	-	4	877	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	UNC5C_ENST00000506749.1_Missense_Mutation_p.E177K|UNC5C_ENST00000504962.1_Missense_Mutation_p.E177K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	177	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.E177K(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAAGACACTTCCTTTCCTAGG	0.408																																																1	Substitution - Missense(1)	ovary(1)	4											152.0	135.0	141.0					4																	96199475		2203	4300	6503	96418498	SO:0001583	missense	8633			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.529G>A	4.37:g.96199475C>T	ENSP00000406022:p.Glu177Lys		96418498	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	35	5.492032	0.96339	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	L	0.55743	1.74	0.80722	D	1	P;P;P	0.47191	0.866;0.891;0.761	P;P;B	0.48304	0.507;0.573;0.396	T	0.74601	-0.3611	10	0.72032	D	0.01	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	177;177;177	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	K	177;136;177;177;177	ENSP00000406022:E177K;ENSP00000426924:E177K;ENSP00000426153:E177K;ENSP00000425117:E177K	ENSP00000328673:E136K	E	-	1	0	UNC5C	96418498	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.776000	0.85560	2.654000	0.90174	0.563000	0.77884	GAA		0.408	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		Missense_Mutation
GNL1	2794	broad.mit.edu	37	6	30521185	30521185	+	Silent	SNP	G	G	A	rs150038929		TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr6:30521185G>A	ENST00000376621.3	-	6	1720	c.750C>T	c.(748-750)caC>caT	p.H250H		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	250	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.H250H(1)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AAAGGACGACGTGGAGCTGGG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	6						G		1,3021		0,1,1510	158.0	168.0	165.0		750	1.6	0.8	6	dbSNP_134	165	0,5418		0,0,2709	no	coding-synonymous	GNL1	NM_005275.3		0,1,4219	AA,AG,GG		0.0,0.0331,0.0118		250/608	30521185	1,8439	1511	2709	4220	30629164	SO:0001819	synonymous_variant	2794				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.750C>T	6.37:g.30521185G>A			30629164	B0S838|Q96CT5	Silent	SNP	ENST00000376621.3	37	CCDS4680.1	SNP	40	Broad																																																																																				0.567	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			Silent
ZNF3	7551	broad.mit.edu	37	7	99669002	99669002	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr7:99669002C>T	ENST00000424697.1	-	6	1411	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	ZNF3_ENST00000299667.4_Missense_Mutation_p.E369K|ZNF3_ENST00000303915.6_Missense_Mutation_p.E369K|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	369				GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019). {ECO:0000305}.	cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.E369K(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TCCATACATTCGTAGGGCTTC	0.468																																																1	Substitution - Missense(1)	ovary(1)	7											90.0	99.0	96.0					7																	99669002		2203	4300	6503	99506938	SO:0001583	missense	7551			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.1105G>A	7.37:g.99669002C>T	ENSP00000415358:p.Glu369Lys		99506938	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	CCDS43619.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035105	0.54896	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.06608	3.28;3.28;3.28	4.75	4.75	0.60458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000043	T	0.02418	0.0074	N	0.01761	-0.735	0.29096	N	0.88181	P;P	0.51449	0.513;0.945	B;B	0.42959	0.019;0.403	T	0.40608	-0.9554	10	0.11794	T	0.64	-15.046	9.0988	0.36656	0.0:0.9012:0.0:0.0988	.	352;369	B3KRP4;P17036	.;ZNF3_HUMAN	K	369	ENSP00000415358:E369K;ENSP00000306372:E369K;ENSP00000299667:E369K	ENSP00000299667:E369K	E	-	1	0	ZNF3	99506938	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.377000	0.07456	2.648000	0.89879	0.655000	0.94253	GAA		0.468	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		Missense_Mutation
COG5	10466	broad.mit.edu	37	7	107204342	107204342	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr7:107204342G>T	ENST00000347053.3	-	1	143	c.93C>A	c.(91-93)aaC>aaA	p.N31K	COG5_ENST00000393603.2_Missense_Mutation_p.N31K|DUS4L_ENST00000498786.1_Intron|DUS4L_ENST00000265720.3_5'Flank|COG5_ENST00000297135.3_Missense_Mutation_p.N31K|DUS4L_ENST00000402620.1_5'Flank	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	31					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.N31K(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CACCTTCCATGTTGGCAGGTG	0.682																																																1	Substitution - Missense(1)	ovary(1)	7											25.0	26.0	25.0					7																	107204342		2198	4293	6491	106991578	SO:0001583	missense	10466			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.93C>A	7.37:g.107204342G>T	ENSP00000334703:p.Asn31Lys		106991578	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	CCDS5743.1	SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120220	0.77323	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.18338	2.23;2.23;2.22	5.83	4.95	0.65309	.	0.189281	0.37761	N	0.001952	T	0.09113	0.0225	N	0.14661	0.345	0.80722	D	1	B;B	0.33238	0.281;0.403	B;B	0.30782	0.056;0.12	T	0.28650	-1.0037	10	0.14252	T	0.57	-5.4845	10.758	0.46247	0.0871:0.0:0.9129:0.0	.	31;31	Q9UP83;Q9UP83-2	COG5_HUMAN;.	K	31	ENSP00000334703:N31K;ENSP00000297135:N31K;ENSP00000377228:N31K	ENSP00000297135:N31K	N	-	3	2	COG5	106991578	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.858000	0.62947	1.468000	0.48064	0.591000	0.81541	AAC		0.682	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			Missense_Mutation
ZBTB34	403341	broad.mit.edu	37	9	129642137	129642137	+	Missense_Mutation	SNP	C	C	A	rs117557953		TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-0891-01	TCGA-13-0891-10	g.chr9:129642137C>A	ENST00000373452.2	+	1	511	c.447C>A	c.(445-447)aaC>aaA	p.N149K	ZBTB34_ENST00000319119.4_Missense_Mutation_p.N153K			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N153K(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						AGAGTCGAAACGGAGTGAAAG	0.537																																																1	Substitution - Missense(1)	ovary(1)	9											66.0	71.0	69.0					9																	129642137		2056	4209	6265	128681958	SO:0001583	missense	403341			DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.447C>A	9.37:g.129642137C>A	ENSP00000362551:p.Asn149Lys		128681958	Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	CCDS48023.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	9.930	1.214563	0.22289	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.08807	3.05;3.06	5.33	-5.16	0.02857	.	0.000000	0.85682	D	0.000000	T	0.13329	0.0323	L	0.47716	1.5	0.50171	D	0.999853	D	0.69078	0.997	D	0.74348	0.983	T	0.51148	-0.8742	10	0.02654	T	1	.	14.9198	0.70829	0.0:0.5515:0.0:0.4485	.	149	Q8NCN2	ZBT34_HUMAN	K	153;149	ENSP00000317534:N153K;ENSP00000362551:N149K	ENSP00000317534:N153K	N	+	3	2	ZBTB34	128681958	0.515000	0.26210	0.529000	0.27951	0.056000	0.15407	-0.300000	0.08243	-0.768000	0.04626	-0.793000	0.03317	AAC		0.537	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		Missense_Mutation
CDK12	51755	broad.mit.edu	37	17	37676281	37676289	+	In_Frame_Del	DEL	ACAGACCCT	ACAGACCCT	-			TCGA-13-0891-01	TCGA-13-0891-10			-	ACAGACCCT	ACAGACCCT	ACAGACCCT	Unknown	Valid	Somatic	Phase_I	Capture	none			Illumina GAIIx	TCGA-13-0891-01	TCGA-13-0891-10	g.chr17:37676281_37676289delACAGACCCT	ENST00000447079.4	+	11	3069_3077	c.3036_3044delACAGACCCT	c.(3034-3045)gaacagacccta>gaa	p.QTL1013del	CDK12_ENST00000430627.2_In_Frame_Del_p.QTL1013del	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1013	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E1012E(1)|p.T1014_Q1016del(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCACAGCTGAACAGACCCTACAGAGCGAC	0.469			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	2	Substitution - coding silent(1)|Deletion - In frame(1)	ovary(1)|lung(1)	17																																								34929815	SO:0001651	inframe_deletion	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3036_3044delACAGACCCT	17.37:g.37676281_37676289delACAGACCCT	ENSP00000398880:p.Gln1013_Leu1015del		34929807	A7E2B2|B4DYX4|B9EIQ6|O94978	In_Frame_Del	DEL	ENST00000447079.4	37	CCDS11337.1	DEL	2	Broad																																																																																				0.469	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		In_Frame_Del
CPS1	1373	broad.mit.edu	37	2	211456662	211456662	+	Frame_Shift_Del	DEL	T	T	-			TCGA-13-0891-01	TCGA-13-0891-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-13-0891-01	TCGA-13-0891-10	g.chr2:211456662delT	ENST00000233072.5	+	10	1251	c.1055delT	c.(1054-1056)cttfs	p.L352fs	CPS1_ENST00000430249.2_Frame_Shift_Del_p.L358fs|CPS1_ENST00000451903.2_5'Flank	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	352	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.F353fs*2(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGGAAACCACTTTTTGTGAAT	0.393																																																1	Deletion - Frameshift(1)	ovary(1)	2											74.0	68.0	70.0					2																	211456662		2203	4300	6503	211164907	SO:0001589	frameshift_variant	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1055delT	2.37:g.211456662delT	ENSP00000233072:p.Leu352fs		211164907	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Frame_Shift_Del	DEL	ENST00000233072.5	37	CCDS2393.1	DEL	56	Broad																																																																																				0.393	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			Frame_Shift_Del
