#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
ACOT11	26027	broad.mit.edu	37	1	55096492	55096492	+	Missense_Mutation	SNP	G	G	A	rs377475734		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:55096492G>A	ENST00000371316.3	+	16	1797	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	RP11-240D10.4_ENST00000416119.1_RNA	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	572	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.R572H(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						tcaaagggtcgcaggagcgac	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		16720	0.0		0.001	False		,,,				2504	0.0				Ovarian(148;1440 1861 22015 32453 51933)	uc001cxm.1																			1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(1)	1						c.(1714-1716)CGC>CAC		thioesterase, adipose associated isoform BFIT1		G	HIS/ARG	1,4405		0,1,2202	19.0	21.0	20.0		1715		0.1	1		20	1,8595		0,1,4297	no	missense	ACOT11	NM_015547.3	29	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154		572/608	55096492	2,13000	2203	4298	6501	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55096492G>A	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.1715G>A	1.37:g.55096492G>A	ENSP00000360366:p.Arg572His						p.R572H	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN			16	1797	+			572			START.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.1715G>A	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	1.360	-0.589116	0.03799	2.27E-4	1.16E-4	ENSG00000162390	ENST00000371316	T	0.79033	-1.23	.	.	.	Lipid-binding START (2);	.	.	.	.	T	0.57460	0.2055	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.52793	-0.8528	5	0.87932	D	0	.	.	.	.	.	572	Q8WXI4	ACO11_HUMAN	H	572	ENSP00000360366:R572H	ENSP00000360366:R572H	R	+	2	0	ACOT11	54869080	0.096000	0.21769	0.095000	0.20976	0.095000	0.18619	0.064000	0.14437	0.064000	0.16427	0.064000	0.15345	CGC		0.547	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547	
PGM1	5236	broad.mit.edu	37	1	64100595	64100595	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:64100595C>T	ENST00000371084.3	+	5	991	c.778C>T	c.(778-780)Cac>Tac	p.H260Y	PGM1_ENST00000540265.1_Missense_Mutation_p.H63Y|PGM1_ENST00000371083.4_Missense_Mutation_p.H278Y	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	260					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTTTGGAGGCCACCACCCTGA	0.547																																						uc001dbh.2																			0				ovary(2)|kidney(1)	3						c.(778-780)CAC>TAC		phosphoglucomutase 1							195.0	188.0	190.0					1																	64100595		2203	4300	6503	SO:0001583	missense	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64100595C>T	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.778C>T	1.37:g.64100595C>T	ENSP00000360125:p.His260Tyr					PGM1_uc010ooy.1_Missense_Mutation_p.H63Y|PGM1_uc010ooz.1_Missense_Mutation_p.H278Y	p.H260Y	NM_002633	NP_002624	P36871	PGM1_HUMAN			5	991	+			260					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	ENST00000371084.3	37	c.778C>T	CCDS625.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259196	0.80246	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.64085	-0.08;-0.08;-0.08	5.13	5.13	0.70059	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.91872	3.25	0.45676	D	0.998592	P;P	0.41313	0.644;0.745	B;B	0.38264	0.198;0.269	T	0.66933	-0.5798	10	0.15499	T	0.54	-4.0979	18.7907	0.91973	0.0:1.0:0.0:0.0	.	278;260	P36871-2;P36871	.;PGM1_HUMAN	Y	236;260;63;278	ENSP00000360125:H260Y;ENSP00000443449:H63Y;ENSP00000360124:H278Y	ENSP00000360124:H278Y	H	+	1	0	PGM1	63873183	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.651000	0.83577	2.656000	0.90262	0.655000	0.94253	CAC		0.547	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633	
TCHH	7062	broad.mit.edu	37	1	152084715	152084735	+	In_Frame_Del	DEL	CTCCTGCTGCTCGCGCCTCTC	CTCCTGCTGCTCGCGCCTCTC	-	rs577300736|rs537487165|rs200970876|rs557415496	byFrequency	TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:152084715_152084735delCTCCTGCTGCTCGCGCCTCTC	ENST00000368804.1	-	2	957_977	c.958_978delGAGAGGCGCGAGCAGCAGGAG	c.(958-978)gagaggcgcgagcagcaggagdel	p.ERREQQE320del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	320	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcgcgcctctcctgctgctcgcgcctctcctcctgctgc	0.692																																						uc001ezp.2																			0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(958-978)GAGAGGCGCGAGCAGCAGGAGdel		trichohyalin				245,20,3695		46,0,153,3,14,1764						-2.0	0.0			20	566,8,7432		56,1,453,0,7,3486	no	codingComplex	TCHH	NM_007113.2		102,1,606,3,21,5250	A1A1,A1A2,A1R,A2A2,A2R,RR		7.1696,6.6919,7.0115				811,28,11127				SO:0001651	inframe_deletion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084715_152084735delCTCCTGCTGCTCGCGCCTCTC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.958_978delGAGAGGCGCGAGCAGCAGGAG	1.37:g.152084715_152084735delCTCCTGCTGCTCGCGCCTCTC	ENSP00000357794:p.Glu320_Glu326del					TCHH_uc009wne.1_In_Frame_Del_p.ERREQQE320del	p.ERREQQE320del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	958_978	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		320_326			5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.|1-1; approximate.		Q5VUI3	In_Frame_Del	DEL	ENST00000368804.1	37	c.958_978delGAGAGGCGCGAGCAGCAGGAG	CCDS41396.1																																																																																				0.692	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
HMCN1	83872	broad.mit.edu	37	1	185956668	185956668	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:185956668T>C	ENST00000271588.4	+	20	3269	c.3040T>C	c.(3040-3042)Tgg>Cgg	p.W1014R	HMCN1_ENST00000367492.2_Missense_Mutation_p.W1014R|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1014	Ig-like C2-type 7.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTCTGTCATCTGGTCCAAGGT	0.453																																						uc001grq.1																			0				ovary(22)|skin(1)	23						c.(3040-3042)TGG>CGG		hemicentin 1 precursor							146.0	149.0	148.0					1																	185956668		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185956668T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3040T>C	1.37:g.185956668T>C	ENSP00000271588:p.Trp1014Arg					HMCN1_uc001grr.1_Missense_Mutation_p.W355R	p.W1014R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			20	3269	+			1014			Ig-like C2-type 7.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3040T>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745346	0.69418	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.96300	-3.97;-3.97	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98979	0.9652	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99218	1.0878	10	0.87932	D	0	.	15.3064	0.73995	0.0:0.0:0.0:1.0	.	398;1014	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	R	1014	ENSP00000271588:W1014R;ENSP00000356462:W1014R	ENSP00000271588:W1014R	W	+	1	0	HMCN1	184223291	1.000000	0.71417	0.963000	0.40424	0.626000	0.37791	7.448000	0.80631	2.024000	0.59613	0.533000	0.62120	TGG		0.453	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
CFHR5	81494	broad.mit.edu	37	1	196964877	196964877	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:196964877A>T	ENST00000256785.4	+	5	747	c.638A>T	c.(637-639)cAa>cTa	p.Q213L	CFHR5_ENST00000367414.5_Missense_Mutation_p.Q237L			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	213	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CCACCTCCTCAACTCTCCAAT	0.333																																						uc001gts.3																			0				breast(1)|skin(1)	2						c.(637-639)CAA>CTA		complement factor H-related 5 precursor							103.0	105.0	104.0					1																	196964877		2203	4299	6502	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196964877A>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.638A>T	1.37:g.196964877A>T	ENSP00000256785:p.Gln213Leu						p.Q213L	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			5	766	+			213			Sushi 4.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.638A>T	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	A	9.930	1.214581	0.22289	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.66099	-0.19;-0.19	3.39	-1.12	0.09808	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.46946	0.1419	L	0.43757	1.38	0.09310	N	1	B	0.18741	0.03	B	0.22152	0.038	T	0.33033	-0.9884	9	0.28530	T	0.3	.	4.1172	0.10088	0.442:0.4275:0.1305:0.0	.	213	Q9BXR6	FHR5_HUMAN	L	237;213	ENSP00000356384:Q237L;ENSP00000256785:Q213L	ENSP00000256785:Q213L	Q	+	2	0	CFHR5	195231500	0.000000	0.05858	0.004000	0.12327	0.021000	0.10359	-2.226000	0.01211	-0.050000	0.13356	0.366000	0.22137	CAA		0.333	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787	
OBSCN	84033	broad.mit.edu	37	1	228400217	228400217	+	Missense_Mutation	SNP	C	C	T	rs531323105		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:228400217C>T	ENST00000422127.1	+	2	777	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000570156.2_Missense_Mutation_p.R245C|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R245C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	245	Ig-like 3.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R245C(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCGGCACGCGCACCTGCAC	0.746																																						uc009xez.1																			2	Substitution - Missense(2)		prostate(2)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(733-735)CGC>TGC		obscurin, cytoskeletal calmodulin and							16.0	20.0	19.0					1																	228400217		1988	4134	6122	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228400217C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.733C>T	1.37:g.228400217C>T	ENSP00000409493:p.Arg245Cys					OBSCN_uc001hsn.2_Missense_Mutation_p.R245C|uc001hsm.1_Intron	p.R245C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			2	777	+		Prostate(94;0.0405)	245			Ig-like 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.733C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	17.60	3.430813	0.62844	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.69040	-0.37;-0.37	4.12	4.12	0.48240	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.177033	0.38164	N	0.001791	T	0.80003	0.4544	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79734	-0.1679	10	0.37606	T	0.19	.	11.0764	0.48034	0.0:0.9087:0.0:0.0913	.	245;245	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	245	ENSP00000284548:R245C;ENSP00000409493:R245C	ENSP00000284548:R245C	R	+	1	0	OBSCN	226466840	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	3.332000	0.52083	1.840000	0.53500	0.556000	0.70494	CGC		0.746	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
KIAA1804	84451	broad.mit.edu	37	1	233511808	233511808	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:233511808G>C	ENST00000366624.3	+	7	2083	c.1822G>C	c.(1822-1824)Gaa>Caa	p.E608Q	MLK4_ENST00000366622.1_Missense_Mutation_p.E54Q	NM_032435.2	NP_115811.2																					AGATTGCAAAGAAAGGTACGT	0.348																																						uc001hvt.3																			0				lung(5)|central_nervous_system(2)|skin(1)	8						c.(1822-1824)GAA>CAA		mixed lineage kinase 4							53.0	55.0	54.0					1																	233511808		2197	4295	6492	SO:0001583	missense	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233511808G>C																												ENST00000366624.3:c.1822G>C	1.37:g.233511808G>C	ENSP00000355583:p.Glu608Gln					KIAA1804_uc001hvu.3_Missense_Mutation_p.E54Q	p.E608Q	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			7	2083	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	608						Missense_Mutation	SNP	ENST00000366624.3	37	c.1822G>C	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664532	0.47572	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.13089	2.62;2.62	5.25	5.25	0.73442	.	0.203563	0.41712	D	0.000839	T	0.39384	0.1076	M	0.70595	2.14	0.58432	D	0.999999	D;B	0.89917	1.0;0.269	D;B	0.77557	0.99;0.141	T	0.12682	-1.0538	10	0.72032	D	0.01	.	19.0551	0.93059	0.0:0.0:1.0:0.0	.	55;608	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	Q	608;54	ENSP00000355583:E608Q;ENSP00000355581:E54Q	ENSP00000355581:E54Q	E	+	1	0	RP5-862P8.2	231578431	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	9.009000	0.93606	2.730000	0.93505	0.655000	0.94253	GAA		0.348	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1		
TARBP1	6894	broad.mit.edu	37	1	234541656	234541656	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:234541656C>T	ENST00000040877.1	-	24	3981	c.3982G>A	c.(3982-3984)Gga>Aga	p.G1328R	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1328					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TACCCTGCTCCGTGCATGCTT	0.532																																						uc001hwd.2																			0				ovary(2)|skin(1)	3						c.(3982-3984)GGA>AGA		TAR RNA binding protein 1							99.0	86.0	90.0					1																	234541656		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234541656C>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3982G>A	1.37:g.234541656C>T	ENSP00000040877:p.Gly1328Arg						p.G1328R	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		24	3982	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1328					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.3982G>A	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030827	0.54790	.	.	ENSG00000059588	ENST00000040877	T	0.05925	3.37	4.57	4.57	0.56435	.	0.116668	0.64402	N	0.000016	T	0.22589	0.0545	M	0.72479	2.2	0.54753	D	0.999985	D	0.89917	1.0	D	0.67231	0.95	T	0.01935	-1.1244	10	0.30854	T	0.27	-13.0593	17.3269	0.87251	0.0:1.0:0.0:0.0	.	1328	Q13395	TARB1_HUMAN	R	1328	ENSP00000040877:G1328R	ENSP00000040877:G1328R	G	-	1	0	TARBP1	232608279	0.991000	0.36638	0.883000	0.34634	0.461000	0.32589	2.844000	0.48246	2.097000	0.63578	0.462000	0.41574	GGA		0.532	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646	
CUBN	8029	broad.mit.edu	37	10	16994307	16994307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr10:16994307delT	ENST00000377833.4	-	33	5002	c.4937delA	c.(4936-4938)aacfs	p.N1646fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1646	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAGCTGCAGTTCTGATTGTT	0.478																																						uc001ioo.2																			0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(4936-4938)AACfs		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						219.0	203.0	208.0					10																	16994307		2203	4300	6503	SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16994307delT	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4937delA	10.37:g.16994307delT	ENSP00000367064:p.Asn1646fs						p.N1646fs	NM_001081	NP_001072	O60494	CUBN_HUMAN			33	4989	-			1646			CUB 11.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	ENST00000377833.4	37	c.4937delA	CCDS7113.1																																																																																				0.478	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
PTEN	5728	broad.mit.edu	37	10	89711928	89711928	+	Frame_Shift_Del	DEL	A	A	-			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr10:89711928delA	ENST00000371953.3	+	6	1903	c.546delA	c.(544-546)ttafs	p.L182fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	182	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.L182fs*16(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.K183fs*7(1)|p.L182F(1)|p.V175fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTACCTGTTAAAGAATCATC	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		60	Whole gene deletion(37)|Deletion - Frameshift(13)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.L182fs*16(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.K183fs*7(1)|p.L182F(1)|p.V175fs*3(1)|p.L182*(1)	prostate(16)|central_nervous_system(15)|skin(10)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)|pancreas(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(544-546)TTAfs		phosphatase and tensin homolog							144.0	144.0	144.0					10																	89711928		2203	4300	6503	SO:0001589	frameshift_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711928delA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.546delA	10.37:g.89711928delA	ENSP00000361021:p.Leu182fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.L182fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1577	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	182			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.546delA	CCDS31238.1																																																																																				0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
SORCS3	22986	broad.mit.edu	37	10	106960921	106960921	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr10:106960921G>A	ENST00000369701.3	+	16	2398	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	SORCS3_ENST00000369699.4_Missense_Mutation_p.R10H	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	724					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.R724H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTCAAGAAACGTAAGCCAGGA	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		pancreas(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2170-2172)CGT>CAT		VPS10 domain receptor protein SORCS 3 precursor							114.0	100.0	104.0					10																	106960921		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106960921G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2171G>A	10.37:g.106960921G>A	ENSP00000358715:p.Arg724His					SORCS3_uc010qqz.1_RNA	p.R724H	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	16	2398	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	724			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2171G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344654	0.82022	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.53206	0.88;0.63	5.78	5.78	0.91487	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.92412	3.305	0.47862	D	0.999534	D	0.89917	1.0	D	0.69142	0.962	T	0.81448	-0.0928	9	.	.	.	.	18.2021	0.89842	0.0:0.0:1.0:0.0	.	724	Q9UPU3	SORC3_HUMAN	H	724;10	ENSP00000358715:R724H;ENSP00000358713:R10H	.	R	+	2	0	SORCS3	106950911	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.700000	0.61803	2.735000	0.93741	0.650000	0.86243	CGT		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
OR51G1	79324	broad.mit.edu	37	11	4944755	4944755	+	Missense_Mutation	SNP	C	C	T	rs146006146	byFrequency	TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:4944755C>T	ENST00000321961.2	-	1	882	c.815G>A	c.(814-816)cGc>cAc	p.R272H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGTACAACGCGGGGCAGATG	0.502													C|||	14	0.00279553	0.0	0.0	5008	,	,		20843	0.0129		0.0	False		,,,				2504	0.001					uc010qyr.1																			0				ovary(1)|skin(1)	2						c.(814-816)CGC>CAC		olfactory receptor, family 51, subfamily G,		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	199.0	165.0	176.0		815	-5.2	0.0	11	dbSNP_134	176	0,8596		0,0,4298	yes	missense	OR51G1	NM_001005237.1	29	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	272/322	4944755	1,12997	2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944755C>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.815G>A	11.37:g.4944755C>T	ENSP00000322546:p.Arg272His						p.R272H	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	815	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	272			Extracellular (Potential).		B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.815G>A	CCDS31366.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	C	0.534	-0.856516	0.02630	2.27E-4	0.0	ENSG00000176879	ENST00000321961	T	0.00145	8.67	4.53	-5.22	0.02806	GPCR, rhodopsin-like superfamily (1);	0.440167	0.16762	N	0.200563	T	0.00039	0.0001	N	0.03084	-0.415	0.09310	N	0.999995	B	0.02656	0.0	B	0.06405	0.002	T	0.21655	-1.0239	10	0.38643	T	0.18	.	8.4042	0.32605	0.1147:0.2438:0.0:0.6415	.	272	Q8NGK1	O51G1_HUMAN	H	272	ENSP00000322546:R272H	ENSP00000322546:R272H	R	-	2	0	OR51G1	4901331	0.000000	0.05858	0.004000	0.12327	0.040000	0.13550	-2.634000	0.00869	-0.787000	0.04510	-1.038000	0.02383	CGC		0.502	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237	
LPXN	9404	broad.mit.edu	37	11	58338166	58338166	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:58338166C>T	ENST00000395074.2	-	2	122	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	LPXN_ENST00000528954.1_Missense_Mutation_p.E17K|LPXN_ENST00000528489.1_Nonsense_Mutation_p.W7*	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	12					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GTGGAGCGTTCCAGTTCCTCC	0.433																																						uc001nmw.2																			0				ovary(1)	1						c.(34-36)GAA>AAA		leupaxin isoform 2							82.0	76.0	78.0					11																	58338166		2201	4295	6496	SO:0001583	missense	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58338166C>T	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.34G>A	11.37:g.58338166C>T	ENSP00000378512:p.Glu12Lys					LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Missense_Mutation_p.E17K|LPXN_uc010rkk.1_Nonsense_Mutation_p.W7*	p.E12K	NM_004811	NP_004802	O60711	LPXN_HUMAN			2	179	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	12			LD motif 1.		B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	ENST00000395074.2	37	c.34G>A	CCDS7969.1	.	.	.	.	.	.	.	.	.	.	C	37	5.999650	0.97189	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	T;T	0.32272	1.46;1.47	4.93	4.93	0.64822	.	0.086764	0.47852	D	0.000215	T	0.53029	0.1771	M	0.73598	2.24	0.80722	A	1	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	T	0.58736	-0.7584	9	0.33940	T	0.23	.	13.9836	0.64319	0.0:1.0:0.0:0.0	.	17;12	B4DV71;O60711	.;LPXN_HUMAN	K	17;12	ENSP00000431284:E17K;ENSP00000378512:E12K	ENSP00000378512:E12K	E	-	1	0	LPXN	58094742	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.485000	0.53208	2.444000	0.82710	0.455000	0.32223	GAA		0.433	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811	
DAGLA	747	broad.mit.edu	37	11	61511463	61511463	+	Silent	SNP	C	C	T	rs373392668		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:61511463C>T	ENST00000257215.5	+	20	2747	c.2631C>T	c.(2629-2631)gaC>gaT	p.D877D	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	877					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGGCCAATGACGAGGAGGAAG	0.726																																						uc001nsa.2																			0				ovary(2)|central_nervous_system(1)	3						c.(2629-2631)GAC>GAT		neural stem cell-derived dendrite regulator							20.0	26.0	24.0					11																	61511463		2166	4227	6393	SO:0001819	synonymous_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511463C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2631C>T	11.37:g.61511463C>T							p.D877D	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	2742	+			877			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	c.2631C>T	CCDS31578.1																																																																																				0.726	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133	
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs548576417|rs552289081|rs56022003	byFrequency	TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:89106662_89106663insA	ENST00000263317.4	-	12	1313		c.e12-2		NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													?|AAAAAAAAA|AAAAAAAAAA|unsure	31	0.0061901	0.0227	0.0014	5008	,	,		14064	0.0		0.0	False		,,,				2504	0.0					uc001pct.2																			1	Unknown(1)		ovary(1)	ovary(1)|central_nervous_system(1)	2						c.e12-1		NADPH oxidase 4 isoform a			,,	92,4164		2,88,2038					,,	5.2	1.0		dbSNP_129	80	7,8213		0,7,4103	no	splice-3,splice-3,splice-3	NOX4	NM_016931.3,NM_001143837.1,NM_001143836.1	,,	2,95,6141	A1A1,A1R,RR		0.0852,2.1617,0.7935	,,	,,		99,12377				SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106662_89106663insA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1075-2->T	11.37:g.89106671_89106671dupA						NOX4_uc009yvr.2_Splice_Site_p.C334_splice|NOX4_uc001pcu.2_Splice_Site_p.C285_splice|NOX4_uc001pcw.2_Splice_Site_p.C52_splice|NOX4_uc001pcx.2_Splice_Site_p.C52_splice|NOX4_uc001pcv.2_Splice_Site_p.C359_splice|NOX4_uc009yvo.2_Splice_Site|NOX4_uc010rtu.1_Splice_Site_p.C193_splice|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Splice_Site_p.C335_splice|NOX4_uc009yvq.2_Splice_Site_p.C335_splice	p.C359_splice	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			12	1314	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	INS	ENST00000263317.4	37	c.1075_splice	CCDS8285.1																																																																																				0.292	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron
TRIM49	57093	broad.mit.edu	37	11	89531775	89531775	+	Silent	SNP	T	T	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:89531775T>C	ENST00000329758.1	-	8	1210	c.882A>G	c.(880-882)gaA>gaG	p.E294E	TRIM49_ENST00000532501.2_Silent_p.E217E	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	294	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGTTGGCTTCTTCATGATGCA	0.313																																						uc001pdb.2																			0					0						c.(880-882)GAA>GAG		ring finger protein 18							29.0	40.0	36.0					11																	89531775		2128	4288	6416	SO:0001819	synonymous_variant	57093					intracellular	zinc ion binding	g.chr11:89531775T>C	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.882A>G	11.37:g.89531775T>C							p.E294E	NM_020358	NP_065091	P0CI25	TRI49_HUMAN			8	1211	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	294			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	c.882A>G	CCDS8287.1																																																																																				0.313	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358	
BARX2	8538	broad.mit.edu	37	11	129306839	129306839	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:129306839G>A	ENST00000281437.4	+	2	477	c.381G>A	c.(379-381)acG>acA	p.T127T	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	127					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		AACAGCCCACGCCCCGACAGA	0.637																																						uc001qfc.3																			0					0						c.(379-381)ACG>ACA		BarH-like homeobox 2							37.0	43.0	41.0					11																	129306839		2201	4296	6497	SO:0001819	synonymous_variant	8538							g.chr11:129306839G>A	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.381G>A	11.37:g.129306839G>A							p.T127T	NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	2	431	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	127					O43518|Q6NT51	Silent	SNP	ENST00000281437.4	37	c.381G>A	CCDS8481.1																																																																																				0.637	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658	
SLC38A4	55089	broad.mit.edu	37	12	47186771	47186771	+	Silent	SNP	G	G	A	rs200652031		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:47186771G>A	ENST00000447411.1	-	2	290	c.84C>T	c.(82-84)atC>atT	p.I28I	SLC38A4_ENST00000266579.4_Silent_p.I28I	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	28					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTCCTATCCCGATGTAGCTAT	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		18357	0.001		0.0	False		,,,				2504	0.0					uc001rpi.2																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(82-84)ATC>ATT		solute carrier family 38, member 4							248.0	223.0	231.0					12																	47186771		2203	4300	6503	SO:0001819	synonymous_variant	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47186771G>A	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.84C>T	12.37:g.47186771G>A						SLC38A4_uc001rpj.2_Silent_p.I28I|SLC38A4_uc009zkl.2_Silent_p.I28I	p.I28I	NM_018018	NP_060488	Q969I6	S38A4_HUMAN			3	483	-	Lung SC(27;0.192)|Renal(347;0.236)		28			Cytoplasmic (Potential).		A8K553	Silent	SNP	ENST00000447411.1	37	c.84C>T	CCDS8750.1																																																																																				0.438	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1		
TRHDE	29953	broad.mit.edu	37	12	73046870	73046870	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:73046870G>A	ENST00000261180.4	+	17	2879	c.2783G>A	c.(2782-2784)cGa>cAa	p.R928Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	928					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CATGTAGCTCGAAATCCACAT	0.353																																						uc001sxa.2																			0				ovary(2)|skin(1)	3						c.(2782-2784)CGA>CAA		thyrotropin-releasing hormone degrading enzyme							86.0	84.0	85.0					12																	73046870		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73046870G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2783G>A	12.37:g.73046870G>A	ENSP00000261180:p.Arg928Gln						p.R928Q	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			17	2813	+			928			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2783G>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048127	0.93740	.	.	ENSG00000072657	ENST00000261180	T	0.05382	3.45	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.16811	0.0404	L	0.31845	0.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.09975	-1.0650	10	0.22706	T	0.39	.	19.3291	0.94278	0.0:0.0:1.0:0.0	.	928	Q9UKU6	TRHDE_HUMAN	Q	928	ENSP00000261180:R928Q	ENSP00000261180:R928Q	R	+	2	0	TRHDE	71333137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.582000	0.87167	0.655000	0.94253	CGA		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
SLC5A8	160728	broad.mit.edu	37	12	101588904	101588904	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:101588904G>A	ENST00000536262.2	-	4	1064	c.506C>T	c.(505-507)aCg>aTg	p.T169M		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GACCACCCCCGTTGCCACTAC	0.398																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3																			0					0						c.(505-507)ACG>ATG		solute carrier family 5 (iodide transporter),							88.0	78.0	81.0					12																	101588904		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101588904G>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.506C>T	12.37:g.101588904G>A	ENSP00000445340:p.Thr169Met						p.T169M	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			4	896	-			169			Helical; (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.506C>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224861	0.58668	.	.	ENSG00000256870	ENST00000536262	D	0.87809	-2.3	5.64	5.64	0.86602	.	0.044239	0.85682	D	0.000000	D	0.92254	0.7543	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91939	0.5561	10	0.54805	T	0.06	.	19.6876	0.95986	0.0:0.0:1.0:0.0	.	169	Q8N695	SC5A8_HUMAN	M	169	ENSP00000445340:T169M	ENSP00000445340:T169M	T	-	2	0	SLC5A8	100113035	1.000000	0.71417	0.136000	0.22124	0.142000	0.21351	9.439000	0.97543	2.657000	0.90304	0.585000	0.79938	ACG		0.398	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	
TMEM132D	121256	broad.mit.edu	37	12	130185158	130185158	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:130185158G>A	ENST00000422113.2	-	2	491	c.165C>T	c.(163-165)aaC>aaT	p.N55N	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	55					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGACGTCCGCGTTGTTGATGT	0.547																																						uc009zyl.1																			0		p.N55T(1)		ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(163-165)AAC>AAT		transmembrane protein 132D precursor							95.0	71.0	79.0					12																	130185158		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130185158G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.165C>T	12.37:g.130185158G>A							p.N55N	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	493	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	55			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.165C>T	CCDS9266.1																																																																																				0.547	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
MTUS2	23281	broad.mit.edu	37	13	29599206	29599206	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr13:29599206C>T	ENST00000431530.3	+	1	459	c.401C>T	c.(400-402)aCg>aTg	p.T134M		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	124						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTGCAGACCACGCGGAGTATT	0.502																																						uc001usl.3																			0					0						c.(400-402)ACG>ATG		hypothetical protein LOC23281 isoform a							98.0	99.0	99.0					13																	29599206		2058	4203	6261	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599206C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.401C>T	13.37:g.29599206C>T	ENSP00000392057:p.Thr134Met						p.T134M	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	459	+			124					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.401C>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	9.785	1.176368	0.21704	.	.	ENSG00000132938	ENST00000431530	T	0.11930	2.73	5.31	3.58	0.41010	.	0.742004	0.12019	N	0.507126	T	0.07007	0.0178	N	0.08118	0	0.19775	N	0.99996	B	0.27286	0.174	B	0.23574	0.047	T	0.41592	-0.9500	9	.	.	.	.	9.7646	0.40552	0.0:0.8298:0.0:0.1702	.	124	Q5JR59	MTUS2_HUMAN	M	134	ENSP00000392057:T134M	.	T	+	2	0	MTUS2	28497206	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.976000	0.29462	0.614000	0.30107	0.655000	0.94253	ACG		0.502	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
KIF26A	26153	broad.mit.edu	37	14	104641823	104641823	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr14:104641823C>T	ENST00000423312.2	+	12	2698	c.2698C>T	c.(2698-2700)Cga>Tga	p.R900*	KIF26A_ENST00000315264.7_Nonsense_Mutation_p.R761*	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	900					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CAGCACCCCTCGAGGCAGTTC	0.692																																						uc001yos.3																			0				pancreas(1)	1						c.(2698-2700)CGA>TGA		kinesin family member 26A							10.0	14.0	13.0					14																	104641823		1967	4114	6081	SO:0001587	stop_gained	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104641823C>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2698C>T	14.37:g.104641823C>T	ENSP00000388241:p.Arg900*						p.R900*	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	12	2698	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	900					Q8TAZ7|Q96GK3|Q9UFL3	Nonsense_Mutation	SNP	ENST00000423312.2	37	c.2698C>T	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	C	41	8.556902	0.98861	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	.	.	.	3.97	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	9.5496	0.39301	0.0:0.8987:0.0:0.1013	.	.	.	.	X	900;761	.	ENSP00000325452:R761X	R	+	1	2	KIF26A	103711576	0.000000	0.05858	0.025000	0.17156	0.147000	0.21601	-0.096000	0.11059	1.925000	0.55765	0.462000	0.41574	CGA		0.692	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1		
CA12	771	broad.mit.edu	37	15	63618489	63618489	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr15:63618489C>T	ENST00000178638.3	-	11	1500	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T	CA12_ENST00000422263.2_Missense_Mutation_p.A283T|CA12_ENST00000344366.3_Missense_Mutation_p.A343T|CA12_ENST00000560666.1_5'UTR	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	354					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GGACCTCAAGCGTGGGCCTCA	0.507																																						uc002amc.2																			0				ovary(1)	1						c.(1060-1062)GCT>ACT		carbonic anhydrase XII isoform 1 precursor	Acetazolamide(DB00819)						110.0	107.0	108.0					15																	63618489		2203	4300	6503	SO:0001583	missense	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63618489C>T	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.1060G>A	15.37:g.63618489C>T	ENSP00000178638:p.Ala354Thr					CA12_uc002amd.2_Missense_Mutation_p.A343T|CA12_uc002ame.2_Missense_Mutation_p.A283T	p.A354T	NM_001218	NP_001209	O43570	CAH12_HUMAN			11	1216	-			354			Cytoplasmic (Potential).		B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	37	c.1060G>A	CCDS10185.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.772907	0.69992	.	.	ENSG00000074410	ENST00000178638;ENST00000344366;ENST00000422263	T;T;T	0.77358	-0.33;-0.39;-1.09	5.75	3.71	0.42584	.	0.851251	0.10403	N	0.678867	T	0.71143	0.3305	L	0.60455	1.87	0.23314	N	0.997922	P;P;P	0.46706	0.702;0.883;0.814	B;B;B	0.35899	0.105;0.213;0.148	T	0.63998	-0.6510	10	0.87932	D	0	.	9.8548	0.41079	0.1465:0.6923:0.1612:0.0	.	283;343;354	B3KUB4;O43570-2;O43570	.;.;CAH12_HUMAN	T	354;343;283	ENSP00000178638:A354T;ENSP00000343088:A343T;ENSP00000403028:A283T	ENSP00000178638:A354T	A	-	1	0	CA12	61405542	0.372000	0.25064	0.908000	0.35775	0.692000	0.40212	0.487000	0.22356	1.394000	0.46624	0.655000	0.94253	GCT		0.507	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218	
GOLGA6B	55889	broad.mit.edu	37	15	72954612	72954612	+	Silent	SNP	G	G	A	rs201791007		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr15:72954612G>A	ENST00000421285.3	+	11	867	c.867G>A	c.(865-867)gcG>gcA	p.A289A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	289						Golgi apparatus (GO:0005794)		p.A289A(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CATCCCTGGCGCCCCCAGCAG	0.537																																						uc010uks.1																			1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(865-867)GCG>GCA		golgi autoantigen, golgin subfamily a, 6B							32.0	31.0	32.0					15																	72954612		1846	3747	5593	SO:0001819	synonymous_variant	55889							g.chr15:72954612G>A		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.867G>A	15.37:g.72954612G>A							p.A289A	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN			11	908	+			289			Potential.		A8MYY7	Silent	SNP	ENST00000421285.3	37	c.867G>A	CCDS10245.2																																																																																				0.537	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652	
CMC2	56942	broad.mit.edu	37	16	81015432	81015432	+	Silent	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr16:81015432C>T	ENST00000219400.3	-	3	547	c.132G>A	c.(130-132)ttG>ttA	p.L44L	CMC2_ENST00000565914.1_Silent_p.L44L|CMC2_ENST00000566231.1_5'UTR|CMC2_ENST00000486645.1_Intron|CMC2_ENST00000570195.1_Silent_p.L63L|CMC2_ENST00000562713.1_Silent_p.L44L|CMC2_ENST00000565108.1_Intron|CMC2_ENST00000565925.1_Silent_p.L44L|CMC2_ENST00000564174.1_Intron|CMC2_ENST00000564249.1_Silent_p.L44L	NM_020188.3	NP_064573.1	Q9NRP2	COXM2_HUMAN	C-x(9)-C motif containing 2	44						mitochondrion (GO:0005739)											GGCATTTTCTCAACTCCCGAT	0.323																																						uc002ffu.2																			0					0						c.(130-132)TTG>TTA		hypothetical protein LOC56942							92.0	85.0	87.0					16																	81015432		2203	4299	6502	SO:0001819	synonymous_variant	56942							g.chr16:81015432C>T	BC032631	CCDS10930.1	16q23.2	2013-10-18	2013-10-18	2012-02-14	ENSG00000103121	ENSG00000103121			24447	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 61"", ""COX assembly mitochondrial protein 2 homolog (S. cerevisiae)"""	C16orf61		20220131	Standard	NM_020188		Approved	DC13, MGC45036	uc002ffu.3	Q9NRP2	OTTHUMG00000137625	ENST00000219400.3:c.132G>A	16.37:g.81015432C>T						C16orf61_uc002ffv.2_Intron	p.L44L	NM_020188	NP_064573	Q9NRP2	CP061_HUMAN			3	331	-			44					D3DUK6	Silent	SNP	ENST00000219400.3	37	c.132G>A	CCDS10930.1																																																																																				0.323	CMC2-001	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269047.1	NM_020188	
AURKB	9212	broad.mit.edu	37	17	8108652	8108652	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr17:8108652C>T	ENST00000585124.1	-	8	836	c.743G>A	c.(742-744)cGc>cAc	p.R248H	AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000578549.1_Missense_Mutation_p.R216H|AURKB_ENST00000316199.6_Missense_Mutation_p.R249H|AURKB_ENST00000534871.1_Missense_Mutation_p.R207H	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						ATTGTGCATGCGCCCCTCAAT	0.572																																					NSCLC(134;1161 2470 43664 51568)	uc002gkm.2																			0				lung(2)|breast(1)|central_nervous_system(1)	4						c.(742-744)CGC>CAC		aurora kinase B							152.0	120.0	131.0					17																	8108652		2203	4300	6503	SO:0001583	missense	9212				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:8108652C>T	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.743G>A	17.37:g.8108652C>T	ENSP00000463999:p.Arg248His					AURKB_uc010cnu.2_Missense_Mutation_p.R68H|AURKB_uc002gkn.2_Missense_Mutation_p.R249H|AURKB_uc010vuu.1_Missense_Mutation_p.R207H|AURKB_uc002gko.2_RNA	p.R248H	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN			8	804	-			248			Protein kinase.		B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	c.743G>A	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617786	0.46736	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.66815	-0.23	5.4	4.41	0.53225	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.324791	0.36234	N	0.002716	T	0.48409	0.1498	N	0.21142	0.635	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.04013	0.001;0.001	T	0.45862	-0.9232	10	0.49607	T	0.09	-22.2238	6.6301	0.22851	0.1794:0.7335:0.0:0.0871	.	248;248	C7G533;Q96GD4	.;AURKB_HUMAN	H	248;207	ENSP00000443869:R207H	ENSP00000313950:R248H	R	-	2	0	AURKB	8049377	0.122000	0.22280	0.932000	0.37286	0.833000	0.47200	1.234000	0.32660	1.482000	0.48325	0.650000	0.86243	CGC		0.572	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217	
KRT20	54474	broad.mit.edu	37	17	39041110	39041110	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr17:39041110C>T	ENST00000167588.3	-	1	369	c.328G>A	c.(328-330)Gcc>Acc	p.A110T		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	110	Linker 1.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GCCCTCGGGGCGTTGGTTTCG	0.498																																						uc002hvl.2																			0				large_intestine(1)|kidney(1)|skin(1)	3						c.(328-330)GCC>ACC		keratin 20							101.0	94.0	96.0					17																	39041110		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39041110C>T	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.328G>A	17.37:g.39041110C>T	ENSP00000167588:p.Ala110Thr						p.A110T	NM_019010	NP_061883	P35900	K1C20_HUMAN			1	370	-		Breast(137;0.000301)|Ovarian(249;0.15)	110			Rod.|Linker 1.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.328G>A	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	C	8.181	0.793746	0.16327	.	.	ENSG00000171431	ENST00000167588	D	0.88586	-2.4	5.65	-4.41	0.03590	Filament (1);	0.628472	0.14977	N	0.287477	T	0.66406	0.2786	N	0.10629	0.01	0.09310	N	1	B	0.26081	0.141	B	0.17979	0.02	T	0.59467	-0.7449	10	0.20046	T	0.44	.	1.562	0.02596	0.3881:0.1535:0.0874:0.371	.	110	P35900	K1C20_HUMAN	T	110	ENSP00000167588:A110T	ENSP00000167588:A110T	A	-	1	0	KRT20	36294636	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.240000	0.01197	-0.508000	0.06540	-0.136000	0.14681	GCC		0.498	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2		
PLEKHH3	79990	broad.mit.edu	37	17	40823101	40823101	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr17:40823101G>A	ENST00000591022.1	-	9	1719	c.1332C>T	c.(1330-1332)aaC>aaT	p.N444N	PLEKHH3_ENST00000293349.6_Silent_p.N444N|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Silent_p.N444N	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	444	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCGCGAATGCGTTGCGGCTCC	0.657																																						uc002iau.2																			0				large_intestine(1)|ovary(1)	2						c.(1330-1332)AAC>AAT		pleckstrin homology domain containing, family H							22.0	28.0	26.0					17																	40823101		2171	4256	6427	SO:0001819	synonymous_variant	79990				signal transduction	cytoskeleton		g.chr17:40823101G>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1332C>T	17.37:g.40823101G>A						PLEKHH3_uc010cyl.1_Intron|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Silent_p.N444N	p.N444N	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	9	1799	-		Breast(137;0.00116)	444			FERM.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Silent	SNP	ENST00000591022.1	37	c.1332C>T	CCDS11434.1																																																																																				0.657	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927	
ST8SIA5	29906	broad.mit.edu	37	18	44260326	44260326	+	Silent	SNP	C	C	T	rs370410407		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr18:44260326C>T	ENST00000315087.7	-	7	1470	c.810G>A	c.(808-810)tcG>tcA	p.S270S	ST8SIA5_ENST00000538168.1_Silent_p.S306S|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.S239S	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	270					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGCTTGCGGCGATTCGAAGT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		20356	0.0		0.0	False		,,,				2504	0.001					uc002lcj.1																			0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						c.(808-810)TCG>TCA		ST8 alpha-N-acetyl-neuraminide							125.0	76.0	93.0					18																	44260326		2203	4300	6503	SO:0001819	synonymous_variant	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260326C>T	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.810G>A	18.37:g.44260326C>T						ST8SIA5_uc002lci.1_Silent_p.S117S|ST8SIA5_uc010xcy.1_Silent_p.S306S|ST8SIA5_uc010xcz.1_Silent_p.S239S	p.S270S	NM_013305	NP_037437	O15466	SIA8E_HUMAN			7	1378	-			270			Lumenal (Potential).		B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	c.810G>A	CCDS11930.1																																																																																				0.617	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305	
HOOK2	29911	broad.mit.edu	37	19	12874555	12874555	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:12874555G>A	ENST00000397668.3	-	21	1938	c.1865C>T	c.(1864-1866)gCg>gTg	p.A622V	HOOK2_ENST00000264827.5_Missense_Mutation_p.A620V|HOOK2_ENST00000589965.1_5'Flank	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	622	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AGGTGCCCCCGCAGCTGGCCG	0.602																																						uc002muy.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(1864-1866)GCG>GTG		hook homolog 2 isoform 1							52.0	61.0	58.0					19																	12874555		2165	4271	6436	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12874555G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1865C>T	19.37:g.12874555G>A	ENSP00000380785:p.Ala622Val					HOOK2_uc010xmq.1_Missense_Mutation_p.A27V|HOOK2_uc002muz.2_Missense_Mutation_p.A620V	p.A622V	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN			21	2036	-			622			Sufficient for interaction with CEP110.|Required for localization to the centrosome and induction of aggresome formation.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1865C>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155340	0.38021	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.25414	1.81;1.8	5.72	-11.4	0.00090	.	2.486070	0.01503	N	0.017574	T	0.09379	0.0231	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.25047	-1.0143	10	0.46703	T	0.11	-3.9105	1.6276	0.02726	0.3976:0.1097:0.306:0.1867	.	620;622	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	V	622;620	ENSP00000380785:A622V;ENSP00000264827:A620V	ENSP00000264827:A620V	A	-	2	0	HOOK2	12735555	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.034000	0.03567	-3.132000	0.00236	-1.956000	0.00482	GCG		0.602	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312	
MAST3	23031	broad.mit.edu	37	19	18255858	18255858	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:18255858C>G	ENST00000262811.6	+	23	2771	c.2771C>G	c.(2770-2772)tCt>tGt	p.S924C	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	924	Ser-rich.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCCCCGCGCTCTCTGTCCTCG	0.692																																						uc002nhz.3																			0				large_intestine(2)|ovary(2)|stomach(1)	5						c.(2770-2772)TCT>TGT		microtubule associated serine/threonine kinase							34.0	40.0	38.0					19																	18255858		1939	4127	6066	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18255858C>G	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2771C>G	19.37:g.18255858C>G	ENSP00000262811:p.Ser924Cys						p.S924C	NM_015016	NP_055831	O60307	MAST3_HUMAN			23	2771	+			924			Ser-rich.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2771C>G	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216583	0.79352	.	.	ENSG00000099308	ENST00000262811	T	0.70749	-0.51	4.72	4.72	0.59763	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	D	0.85596	0.5733	M	0.86268	2.805	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.88351	0.2981	10	0.72032	D	0.01	-9.6281	16.6471	0.85179	0.0:1.0:0.0:0.0	.	924	O60307	MAST3_HUMAN	C	924	ENSP00000262811:S924C	ENSP00000262811:S924C	S	+	2	0	MAST3	18116858	1.000000	0.71417	0.992000	0.48379	0.655000	0.38815	7.742000	0.85008	2.178000	0.69098	0.313000	0.20887	TCT		0.692	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150	
ZNF569	148266	broad.mit.edu	37	19	37903536	37903536	+	Missense_Mutation	SNP	G	G	A	rs545354210		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:37903536G>A	ENST00000316950.6	-	6	2581	c.2024C>T	c.(2023-2025)tCg>tTg	p.S675L	ZNF569_ENST00000392150.2_Missense_Mutation_p.S516L|ZNF569_ENST00000392149.2_Missense_Mutation_p.S675L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	675					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACAAGGTGCGACTTTTGGCT	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		19832	0.001		0.0	False		,,,				2504	0.0					uc002ogi.2																			0				breast(2)|skin(1)	3						c.(2023-2025)TCG>TTG		zinc finger protein 569							115.0	117.0	116.0					19																	37903536		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37903536G>A	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.2024C>T	19.37:g.37903536G>A	ENSP00000325018:p.Ser675Leu					ZNF569_uc002ogh.2_Missense_Mutation_p.S516L|ZNF569_uc002ogj.2_Missense_Mutation_p.S699L	p.S675L	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	2582	-			675			C2H2-type 18.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.2024C>T	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372849	0.61624	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.31769	1.48;2.26	3.93	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28376	N	0.015564	T	0.51449	0.1675	M	0.80508	2.5	0.09310	N	1	P;D	0.64830	0.922;0.994	B;D	0.64042	0.312;0.921	T	0.37056	-0.9722	10	0.62326	D	0.03	.	11.1036	0.48190	0.1012:0.0:0.8988:0.0	.	516;675	Q17RR6;Q5MCW4	.;ZN569_HUMAN	L	675;331;516	ENSP00000325018:S675L;ENSP00000375993:S516L	ENSP00000325018:S675L	S	-	2	0	ZNF569	42595376	0.001000	0.12720	1.000000	0.80357	0.970000	0.65996	1.121000	0.31283	2.181000	0.69327	0.563000	0.77884	TCG		0.413	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
MED29	55588	broad.mit.edu	37	19	39883120	39883120	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:39883120C>T	ENST00000599213.2	+	2	260	c.233C>T	c.(232-234)gCg>gTg	p.A78V	PAF1_ENST00000595564.1_5'Flank|PAF1_ENST00000221265.3_5'Flank|PAF1_ENST00000221266.7_5'Flank|MED29_ENST00000594368.1_Missense_Mutation_p.A78V|MED29_ENST00000315588.5_Missense_Mutation_p.A99V			Q9NX70	MED29_HUMAN	mediator complex subunit 29	78	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATGAAGGTTGCGGCCCAAAAC	0.418																																						uc002olf.2																			0				ovary(1)|pancreas(1)	2						c.(295-297)GCG>GTG		mediator complex subunit 29							127.0	121.0	123.0					19																	39883120		2203	4300	6503	SO:0001583	missense	55588				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr19:39883120C>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.233C>T	19.37:g.39883120C>T	ENSP00000471802:p.Ala78Val					PAF1_uc002old.2_5'Flank|PAF1_uc002ole.1_5'Flank|PAF1_uc010xuv.1_5'Flank|MED29_uc010xuw.1_Missense_Mutation_p.A99V|MED29_uc010xux.1_Intron	p.A99V	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		2	333	+	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		78			Gln-rich.		B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.296C>T		.	.	.	.	.	.	.	.	.	.	C	27.4	4.825681	0.90955	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.78059	0.4224	M	0.74647	2.275	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.968	T	0.81315	-0.0988	9	0.87932	D	0	0.5328	14.5626	0.68151	0.0:1.0:0.0:0.0	.	78;99	Q9NX70;B4DUA7	MED29_HUMAN;.	V	99;17	.	ENSP00000314343:A99V	A	+	2	0	MED29	44574960	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	6.014000	0.70784	2.273000	0.75805	0.563000	0.77884	GCG		0.418	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829	
ZNF229	7772	broad.mit.edu	37	19	44932748	44932748	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:44932748G>A	ENST00000588931.1	-	6	2641	c.2208C>T	c.(2206-2208)ggC>ggT	p.G736G	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Silent_p.G730G	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	736					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G736G(2)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ATGGCTTCTCGCCAGTGTGCA	0.488																																						uc002oze.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)|pancreas(1)	4						c.(2206-2208)GGC>GGT		zinc finger protein 229							57.0	64.0	61.0					19																	44932748		2188	4296	6484	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44932748G>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.2208C>T	19.37:g.44932748G>A						ZNF229_uc010ejk.1_Silent_p.G390G|ZNF229_uc010ejl.1_Silent_p.G730G	p.G736G	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	2642	-		Prostate(69;0.0352)	736					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.2208C>T	CCDS42574.1																																																																																				0.488	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518	
HIF3A	64344	broad.mit.edu	37	19	46825102	46825102	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:46825102A>C	ENST00000377670.4	+	10	1245	c.1214A>C	c.(1213-1215)gAc>gCc	p.D405A	HIF3A_ENST00000244303.6_Missense_Mutation_p.D336A|HIF3A_ENST00000472815.1_Missense_Mutation_p.D336A|HIF3A_ENST00000339613.2_Missense_Mutation_p.D349A|HIF3A_ENST00000420102.2_Missense_Mutation_p.D354A|HIF3A_ENST00000300862.3_Missense_Mutation_p.D403A|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.D336A	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	405					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTGGCCGCTGACCCCCGCCGT	0.692																																						uc002peh.2																			0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1213-1215)GAC>GCC		hypoxia inducible factor 3, alpha subunit							39.0	47.0	44.0					19																	46825102		2200	4298	6498	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46825102A>C	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1214A>C	19.37:g.46825102A>C	ENSP00000366898:p.Asp405Ala					HIF3A_uc002peg.3_Missense_Mutation_p.D405A|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.D349A|HIF3A_uc002pej.1_Missense_Mutation_p.D336A|HIF3A_uc002pek.2_Missense_Mutation_p.D349A|HIF3A_uc010xxy.1_Missense_Mutation_p.D336A|HIF3A_uc002pel.2_Missense_Mutation_p.D403A|HIF3A_uc010xxz.1_Missense_Mutation_p.D354A	p.D405A	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	10	1243	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	405					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1214A>C	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.21|13.21	2.169902|2.169902	0.38315|0.38315	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102|ENST00000472815	T;T;T;T;T|.	0.65549|.	0.59;-0.15;0.46;0.59;-0.16|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.47455|.	D|.	0.000236|.	T|.	0.45498|.	0.1345|.	L|L	0.27053|0.27053	0.805|0.805	0.34263|0.34263	D|D	0.680161|0.680161	D;D;P;D;P;P;D|.	0.89917|.	0.974;1.0;0.94;0.998;0.9;0.9;0.998|.	P;D;P;D;B;B;D|.	0.80764|.	0.806;0.994;0.546;0.991;0.344;0.344;0.991|.	T|.	0.56541|.	-0.7962|.	10|.	0.15499|.	T|.	0.54|.	.|.	11.3632|11.3632	0.49655|0.49655	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	354;336;403;354;349;405;405|.	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185|.	.;.;.;.;.;HIF3A_HUMAN;.|.	A|C	405;405;336;349;349;403;354|377	ENSP00000366898:D405A;ENSP00000244303:D336A;ENSP00000341877:D349A;ENSP00000300862:D403A;ENSP00000407771:D354A|.	ENSP00000244302:D405A|.	D|X	+|+	2|3	0|0	HIF3A|HIF3A	51516942|51516942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	4.596000|4.596000	0.61055|0.61055	2.010000|2.010000	0.58986|0.58986	0.533000|0.533000	0.62120|0.62120	GAC|TGA		0.692	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3		
GRIN2D	2906	broad.mit.edu	37	19	48919313	48919313	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:48919313C>T	ENST00000263269.3	+	7	1724	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	546					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAACGAGGAGCGCTCCGAGAT	0.672																																						uc002pjc.3																			0				ovary(3)|breast(3)	6						c.(1636-1638)CGC>TGC		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						107.0	92.0	97.0					19																	48919313		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48919313C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1636C>T	19.37:g.48919313C>T	ENSP00000263269:p.Arg546Cys						p.R546C	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	7	1724	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	546			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000263269.3	37	c.1636C>T	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	c	17.81	3.479689	0.63849	.	.	ENSG00000105464	ENST00000263269	T	0.70869	-0.52	3.91	1.53	0.23141	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.108403	0.49916	D	0.000137	D	0.87470	0.6185	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89363	0.3669	10	0.87932	D	0	.	10.8661	0.46856	0.4054:0.5945:0.0:0.0	.	546	O15399	NMDE4_HUMAN	C	546	ENSP00000263269:R546C	ENSP00000263269:R546C	R	+	1	0	GRIN2D	53611125	1.000000	0.71417	0.996000	0.52242	0.883000	0.51084	0.829000	0.27449	0.982000	0.38575	-0.322000	0.08575	CGC		0.672	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1		
ZNF320	162967	broad.mit.edu	37	19	53384360	53384360	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:53384360C>T	ENST00000595635.1	-	8	1520	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R340H	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ATGTGATTTGCGACTGAAAAC	0.428																																						uc002qag.2																			0					0						c.(1018-1020)CGC>CAC		zinc finger protein 320							98.0	92.0	94.0					19																	53384360		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384360C>T	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1019G>A	19.37:g.53384360C>T	ENSP00000473091:p.Arg340His					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R286H|ZNF320_uc002qai.2_Missense_Mutation_p.R340H	p.R340H	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1210	-			340			C2H2-type 7.		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1019G>A	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	3.706	-0.060511	0.07317	.	.	ENSG00000182986	ENST00000391781	T	0.07327	3.2	1.74	-3.48	0.04739	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.26042	0.785	0.09310	N	1	P	0.35033	0.481	B	0.27715	0.082	T	0.41998	-0.9477	9	0.13470	T	0.59	.	0.9517	0.01377	0.1657:0.3515:0.1662:0.3166	.	340	A2RRD8	ZN320_HUMAN	H	340	ENSP00000375660:R340H	ENSP00000375660:R340H	R	-	2	0	ZNF320	58076172	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-2.557000	0.00924	-0.875000	0.04022	0.184000	0.17185	CGC		0.428	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333	
ZNF677	342926	broad.mit.edu	37	19	53741592	53741592	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:53741592G>T	ENST00000598513.1	-	5	538	c.388C>A	c.(388-390)Cac>Aac	p.H130N	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Missense_Mutation_p.H130N	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TCTTTTCTGTGAGTGAGATTT	0.353																																						uc002qbf.1																			0				ovary(1)	1						c.(388-390)CAC>AAC		zinc finger protein 677							144.0	138.0	140.0					19																	53741592		2203	4299	6502	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53741592G>T	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.388C>A	19.37:g.53741592G>T	ENSP00000469391:p.His130Asn					ZNF677_uc002qbg.1_Missense_Mutation_p.H130N	p.H130N	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	573	-			130						Missense_Mutation	SNP	ENST00000598513.1	37	c.388C>A	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.384831	0.01194	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.06449	3.3	2.29	-4.05	0.03998	.	3.234560	0.01079	N	0.004954	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.16289	0.015	T	0.35076	-0.9803	10	0.26408	T	0.33	.	1.0954	0.01672	0.3344:0.1512:0.361:0.1534	.	130	Q86XU0	ZN677_HUMAN	N	130	ENSP00000334394:H130N	ENSP00000334394:H130N	H	-	1	0	ZNF677	58433404	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-2.552000	0.00927	-1.011000	0.03391	-0.136000	0.14681	CAC		0.353	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609	
ABCB11	8647	broad.mit.edu	37	2	169783711	169783711	+	Silent	SNP	A	A	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:169783711A>T	ENST00000263817.6	-	26	3697	c.3573T>A	c.(3571-3573)gcT>gcA	p.A1191A		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1191	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCTGTTTTGCAGCTGCTATGA	0.453																																						uc002ueo.1																			0				ovary(2)|large_intestine(2)|breast(1)	5						c.(3571-3573)GCT>GCA		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						203.0	195.0	198.0					2																	169783711		1921	4131	6052	SO:0001819	synonymous_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169783711A>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3573T>A	2.37:g.169783711A>T						ABCB11_uc010zda.1_Silent_p.A609A|ABCB11_uc010zdb.1_Silent_p.A667A	p.A1191A	NM_003742	NP_003733	O95342	ABCBB_HUMAN			26	3699	-			1191			Cytoplasmic (Potential).|ABC transporter 2.		Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	c.3573T>A	CCDS46444.1																																																																																				0.453	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	
MFSD6	54842	broad.mit.edu	37	2	191301881	191301881	+	Missense_Mutation	SNP	G	G	T	rs147647208	byFrequency	TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:191301881G>T	ENST00000392328.1	+	3	1450	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	MFSD6_ENST00000281416.7_Missense_Mutation_p.G376C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	376					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CATCGTCTTCGGCGTTCTCAT	0.517																																						uc002urz.2																			0				ovary(2)	2						c.(1126-1128)GGC>TGC		major facilitator superfamily domain containing							82.0	69.0	74.0					2																	191301881		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191301881G>T		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1126G>T	2.37:g.191301881G>T	ENSP00000376141:p.Gly376Cys						p.G376C	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN			3	1450	+			376			Helical; (Potential).		D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.1126G>T	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224873	0.79576	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	D;D	0.82803	-1.65;-1.65	6.16	6.16	0.99307	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.87281	0.6138	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.84544	0.0640	10	0.33141	T	0.24	-21.8064	19.848	0.96722	0.0:0.0:1.0:0.0	.	376	Q6ZSS7	MFSD6_HUMAN	C	376	ENSP00000376141:G376C;ENSP00000281416:G376C	ENSP00000281416:G376C	G	+	1	0	MFSD6	191010126	1.000000	0.71417	0.943000	0.38184	0.765000	0.43378	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GGC		0.517	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1		
DNPEP	23549	broad.mit.edu	37	2	220246112	220246112	+	Missense_Mutation	SNP	G	G	A	rs201204134		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:220246112G>A	ENST00000273075.4	-	13	1404	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V	DNPEP_ENST00000373972.1_Missense_Mutation_p.A320V|DNPEP_ENST00000523282.1_Missense_Mutation_p.A403V|DNPEP_ENST00000490371.1_5'UTR	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	385					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCTGACACCGCGTTTGAAGC	0.597																																						uc010zlg.1																			0					0						c.(1207-1209)GCG>GTG		aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						191.0	196.0	194.0					2																	220246112		2056	4201	6257	SO:0001583	missense	23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220246112G>A		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.1184C>T	2.37:g.220246112G>A	ENSP00000273075:p.Ala395Val					DNPEP_uc010zlf.1_RNA|DNPEP_uc002vle.2_Missense_Mutation_p.A395V|DNPEP_uc002vlf.1_Missense_Mutation_p.A381V|DNPEP_uc002vlh.2_Missense_Mutation_p.A342V|DNPEP_uc002vli.1_Missense_Mutation_p.A342V	p.A403V	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	1290	-		Renal(207;0.0474)	385					Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	c.1208C>T	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967122	0.92855	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000535056	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.85199	0.5642	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	0.996;0.996;1.0;0.996	P;P;D;P	0.72982	0.636;0.636;0.979;0.636	D	0.88398	0.3013	9	0.87932	D	0	-16.3013	18.4155	0.90568	0.0:0.0:1.0:0.0	.	403;403;385;395	E7ETB3;B7Z7F0;Q9ULA0;Q53SB6	.;.;DNPEP_HUMAN;.	V	395;395;320;403;288	.	ENSP00000273075:A395V	A	-	2	0	DNPEP	219954356	1.000000	0.71417	0.893000	0.35052	0.547000	0.35210	9.516000	0.98017	2.575000	0.86900	0.561000	0.74099	GCG		0.597	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100	
AGXT	189	broad.mit.edu	37	2	241808652	241808652	+	Silent	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:241808652C>T	ENST00000307503.3	+	2	618	c.231C>T	c.(229-231)gtC>gtT	p.V77V		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	77					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	TCACACTGGTCATCTCTGGCT	0.607																																						uc002waa.3																			0					0						c.(229-231)GTC>GTT		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						156.0	127.0	137.0					2																	241808652		2203	4300	6503	SO:0001819	synonymous_variant	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241808652C>T	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.231C>T	2.37:g.241808652C>T						AGXT_uc010zoi.1_Silent_p.V77V	p.V77V	NM_000030	NP_000021	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	2	352	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	77					Q53QU6	Silent	SNP	ENST00000307503.3	37	c.231C>T	CCDS2543.1																																																																																				0.607	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030	
TRPM2	7226	broad.mit.edu	37	21	45821664	45821664	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr21:45821664G>A	ENST00000397928.1	+	16	2867	c.2422G>A	c.(2422-2424)Gcc>Acc	p.A808T	TRPM2_ENST00000300482.5_Missense_Mutation_p.A808T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.A788T|TRPM2_ENST00000397932.2_Missense_Mutation_p.A808T	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	808					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTCCTACTTCGCCTTCCTCTG	0.632																																						uc002zet.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2422-2424)GCC>ACC		transient receptor potential cation channel,							365.0	289.0	315.0					21																	45821664		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45821664G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2422G>A	21.37:g.45821664G>A	ENSP00000381023:p.Ala808Thr					TRPM2_uc002zeu.1_Missense_Mutation_p.A808T|TRPM2_uc002zew.1_Missense_Mutation_p.A808T|TRPM2_uc010gpt.1_Missense_Mutation_p.A808T|TRPM2_uc002zex.1_Missense_Mutation_p.A594T|TRPM2_uc002zey.1_Missense_Mutation_p.A321T	p.A808T	NM_003307	NP_003298	O94759	TRPM2_HUMAN			17	2635	+			808			Helical; (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.2422G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272291	0.40194	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	4.61	-0.173	0.13322	.	0.906802	0.09393	N	0.808347	T	0.40743	0.1129	L	0.35542	1.07	0.25321	N	0.989114	B;B;B	0.27286	0.174;0.106;0.106	B;B;B	0.14578	0.011;0.011;0.011	T	0.17899	-1.0354	10	0.16420	T	0.52	-9.7029	3.0604	0.06197	0.2818:0.0:0.3747:0.3435	.	808;594;808	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	T	808;808;788;808	ENSP00000300482:A808T;ENSP00000381023:A808T;ENSP00000300481:A788T;ENSP00000381026:A808T	ENSP00000300481:A788T	A	+	1	0	TRPM2	44646092	0.003000	0.15002	0.936000	0.37596	0.868000	0.49771	0.396000	0.20867	0.109000	0.17891	0.423000	0.28283	GCC		0.632	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
CABIN1	23523	broad.mit.edu	37	22	24483514	24483514	+	Missense_Mutation	SNP	G	G	A	rs148592192		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr22:24483514G>A	ENST00000398319.2	+	23	3758	c.3373G>A	c.(3373-3375)Gtc>Atc	p.V1125I	CABIN1_ENST00000405822.2_Missense_Mutation_p.V1075I|CABIN1_ENST00000263119.5_Missense_Mutation_p.V1125I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1125					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCCACGCCCGTCTTGAACTG	0.577																																						uc002zzi.1																			0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(3373-3375)GTC>ATC		calcineurin binding protein 1		G	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	96.0	79.0	85.0		3373,3223,3373	4.1	0.7	22	dbSNP_134	85	0,8600		0,0,4300	no	missense,missense,missense	CABIN1	NM_001199281.1,NM_001201429.1,NM_012295.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1125/2221,1075/2171,1125/2221	24483514	1,13005	2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24483514G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3373G>A	22.37:g.24483514G>A	ENSP00000381364:p.Val1125Ile					CABIN1_uc002zzj.1_Missense_Mutation_p.V1075I|CABIN1_uc002zzl.1_Missense_Mutation_p.V1125I	p.V1125I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			23	3500	+			1125			TPR 6.		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.3373G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938576	0.52972	2.27E-4	0.0	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.75589	-0.95;-0.95;-0.95	5.1	4.09	0.47781	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	L	0.42245	1.32	0.80722	D	1	B;B	0.30793	0.295;0.036	B;B	0.17433	0.018;0.008	T	0.64437	-0.6408	10	0.48119	T	0.1	.	13.0002	0.58670	0.078:0.0:0.922:0.0	.	1075;1125	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	I	1125;1075;1125	ENSP00000263119:V1125I;ENSP00000384694:V1075I;ENSP00000381364:V1125I	ENSP00000263119:V1125I	V	+	1	0	CABIN1	22813514	1.000000	0.71417	0.708000	0.30435	0.331000	0.28603	7.919000	0.87513	1.318000	0.45170	-0.142000	0.14014	GTC		0.577	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	
CNTN6	27255	broad.mit.edu	37	3	1415706	1415706	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:1415706delG	ENST00000446702.2	+	16	2671	c.2044delG	c.(2044-2046)gggfs	p.G682fs	CNTN6_ENST00000350110.2_Frame_Shift_Del_p.G682fs|CNTN6_ENST00000539053.1_Frame_Shift_Del_p.G610fs			Q9UQ52	CNTN6_HUMAN	contactin 6	682	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAACAGCATTGGGATTGGAGA	0.393																																						uc003boz.2																			0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2044-2046)GGGfs		contactin 6 precursor							134.0	128.0	130.0					3																	1415706		2203	4300	6503	SO:0001589	frameshift_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1415706delG	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2044delG	3.37:g.1415706delG	ENSP00000407822:p.Gly682fs					CNTN6_uc011asj.1_Frame_Shift_Del_p.G610fs|CNTN6_uc003bpa.2_Frame_Shift_Del_p.G682fs	p.G682fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	16	2311	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	682			Fibronectin type-III 1.		Q2KHM2	Frame_Shift_Del	DEL	ENST00000446702.2	37	c.2044delG	CCDS2557.1																																																																																				0.393	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
SLC9C1	285335	broad.mit.edu	37	3	111918295	111918295	+	Missense_Mutation	SNP	G	G	A	rs201824027		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:111918295G>A	ENST00000305815.5	-	20	2648	c.2396C>T	c.(2395-2397)cCa>cTa	p.P799L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P751L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	799					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AGCAATTTCTGGGTGATCATA	0.279																																						uc003dyu.2																			0				ovary(3)|breast(2)	5						c.(2395-2397)CCA>CTA		sperm-specific sodium proton exchanger		G	LEU/PRO	1,4401		0,1,2200	67.0	67.0	67.0		2396	5.6	1.0	3		67	1,8593	1.2+/-3.3	0,1,4296	no	missense	SLC9A10	NM_183061.1	98	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	799/1178	111918295	2,12994	2201	4297	6498	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111918295G>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2396C>T	3.37:g.111918295G>A	ENSP00000306627:p.Pro799Leu					SLC9A10_uc011bhu.1_Missense_Mutation_p.P62L|SLC9A10_uc010hqc.2_Missense_Mutation_p.P751L	p.P799L	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			20	2618	-			799					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.2396C>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530823	0.64860	2.27E-4	1.16E-4	ENSG00000172139	ENST00000305815;ENST00000487372	D;D	0.84146	-1.76;-1.81	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000032	D	0.91479	0.7310	M	0.70275	2.135	0.51012	D	0.9999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.91905	0.5535	10	0.66056	D	0.02	.	14.9925	0.71399	0.0:0.0:1.0:0.0	.	751;799	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	799;751	ENSP00000306627:P799L;ENSP00000420688:P751L	ENSP00000306627:P799L	P	-	2	0	SLC9A10	113400985	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	5.173000	0.65010	2.605000	0.88082	0.655000	0.94253	CCA		0.279	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
LRRC31	79782	broad.mit.edu	37	3	169557943	169557943	+	Nonsense_Mutation	SNP	G	G	A	rs370737804		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:169557943G>A	ENST00000316428.5	-	9	1543	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Nonsense_Mutation_p.R440*	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	496										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCACAATCTCGAAAATTTGAT	0.453																																						uc003fgc.1																			0				ovary(2)|skin(1)	3						c.(1486-1488)CGA>TGA		leucine rich repeat containing 31		G	stop/ARG	1,3871		0,1,1935	148.0	136.0	140.0		1486	2.6	0.0	3		140	0,8278		0,0,4139	no	stop-gained	LRRC31	NM_024727.2		0,1,6074	AA,AG,GG		0.0,0.0258,0.0082		496/553	169557943	1,12149	1936	4139	6075	SO:0001587	stop_gained	79782							g.chr3:169557943G>A	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1486C>T	3.37:g.169557943G>A	ENSP00000325978:p.Arg496*					LRRC31_uc010hwp.1_Nonsense_Mutation_p.R440*	p.R496*	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		9	1563	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		496					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Nonsense_Mutation	SNP	ENST00000316428.5	37	c.1486C>T	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339637	0.41398	2.58E-4	0.0	ENSG00000114248	ENST00000316428;ENST00000264676	.	.	.	4.46	2.6	0.31112	.	0.372330	0.27464	N	0.019257	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.4902	5.6611	0.17670	0.1548:0.0:0.5711:0.2741	.	.	.	.	X	496;440	.	ENSP00000264676:R440X	R	-	1	2	LRRC31	171040637	0.030000	0.19436	0.000000	0.03702	0.108000	0.19459	2.204000	0.42761	0.314000	0.23086	0.650000	0.86243	CGA		0.453	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727	
CPN2	1370	broad.mit.edu	37	3	194061799	194061799	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:194061799G>A	ENST00000323830.3	-	2	1722	c.1633C>T	c.(1633-1635)Ccc>Tcc	p.P545S	CPN2_ENST00000429275.1_Missense_Mutation_p.P545S	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	545					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGCTACTAGGGCCCTGCTGCC	0.652																																						uc003fts.2																			0				ovary(5)	5						c.(1633-1635)CCC>TCC		carboxypeptidase N, polypeptide 2							21.0	23.0	22.0					3																	194061799		2203	4299	6502	SO:0001583	missense	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194061799G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1633C>T	3.37:g.194061799G>A	ENSP00000319464:p.Pro545Ser						p.P545S	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1723	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		545					B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	c.1633C>T	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307082	0.60305	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.56941	0.43;0.43	5.17	-0.245	0.13027	.	1.017430	0.07907	N	0.973637	T	0.37812	0.1017	L	0.29908	0.895	0.09310	N	1	B	0.26195	0.144	B	0.21917	0.037	T	0.36286	-0.9754	10	0.87932	D	0	.	6.1975	0.20557	0.076:0.3034:0.5028:0.1179	.	545	P22792	CPN2_HUMAN	S	545	ENSP00000319464:P545S;ENSP00000402232:P545S	ENSP00000319464:P545S	P	-	1	0	CPN2	195543494	0.000000	0.05858	0.069000	0.20011	0.056000	0.15407	-0.604000	0.05667	0.056000	0.16144	0.655000	0.94253	CCC		0.652	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513	
ZNF732	654254	broad.mit.edu	37	4	265913	265913	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:265913T>G	ENST00000419098.1	-	4	743	c.733A>C	c.(733-735)Act>Cct	p.T245P		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TTCTCTCCAGTATGAACTTTA	0.363																																						uc011buu.1																			0					0						c.(730-732)ACT>CCT		zinc finger protein 732							70.0	61.0	64.0					4																	265913		692	1591	2283	SO:0001583	missense	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:265913T>G	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.733A>C	4.37:g.265913T>G	ENSP00000415774:p.Thr245Pro					ZNF732_uc010ibb.1_Intron	p.T244P	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN			3	744	-			245						Missense_Mutation	SNP	ENST00000419098.1	37	c.730A>C	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839840	0.32513	.	.	ENSG00000186777	ENST00000419098	T	0.06218	3.33	0.946	0.946	0.19549	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19446	0.0467	M	0.77712	2.385	0.27563	N	0.950113	D	0.54601	0.967	D	0.68039	0.955	T	0.04635	-1.0937	9	0.72032	D	0.01	.	5.7317	0.18042	0.0:0.0:0.0:1.0	.	245	B4DXR9	ZN732_HUMAN	P	245	ENSP00000415774:T245P	ENSP00000415774:T245P	T	-	1	0	ZNF732	255913	0.950000	0.32346	0.008000	0.14137	0.007000	0.05969	1.400000	0.34577	0.339000	0.23719	0.329000	0.21502	ACT		0.363	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608	
ZNF732	654254	broad.mit.edu	37	4	265995	265995	+	Missense_Mutation	SNP	A	A	T	rs377745654		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:265995A>T	ENST00000419098.1	-	4	661	c.651T>A	c.(649-651)caT>caA	p.H217Q		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TCTCTCCAGTATGAATTATCT	0.348																																						uc011buu.1																			0					0						c.(646-648)CAT>CAA		zinc finger protein 732							60.0	52.0	54.0					4																	265995		692	1591	2283	SO:0001583	missense	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:265995A>T	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.651T>A	4.37:g.265995A>T	ENSP00000415774:p.His217Gln					ZNF732_uc010ibb.1_Intron	p.H216Q	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN			3	662	-			217			C2H2-type 3; degenerate.			Missense_Mutation	SNP	ENST00000419098.1	37	c.648T>A	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	A	10.62	1.400597	0.25291	.	.	ENSG00000186777	ENST00000419098	T	0.66995	-0.24	0.937	-0.322	0.12713	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81631	0.4863	H	0.95224	3.64	0.29181	N	0.876494	P	0.52577	0.954	P	0.62491	0.903	T	0.71852	-0.4467	9	0.87932	D	0	.	3.7445	0.08542	0.404:0.0:0.596:0.0	.	217	B4DXR9	ZN732_HUMAN	Q	217	ENSP00000415774:H217Q	ENSP00000415774:H217Q	H	-	3	2	ZNF732	255995	0.998000	0.40836	0.118000	0.21660	0.106000	0.19336	0.445000	0.21677	0.333000	0.23563	0.324000	0.21423	CAT		0.348	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608	
UGT2B4	7363	broad.mit.edu	37	4	70351001	70351001	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:70351001G>A	ENST00000305107.6	-	5	1281	c.1235C>T	c.(1234-1236)gCt>gTt	p.A412V	UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.A276V	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	412					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CAAACTAACAGCTGCTCCCTT	0.423																																						uc003hek.3																			0				skin(2)	2						c.(1234-1236)GCT>GTT		UDP glucuronosyltransferase 2B4 precursor																																				SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70351001G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1235C>T	4.37:g.70351001G>A	ENSP00000305221:p.Ala412Val					UGT2B4_uc011cap.1_Missense_Mutation_p.A276V|UGT2B4_uc003hel.3_Intron	p.A412V	NM_021139	NP_066962	P06133	UD2B4_HUMAN			5	1282	-			412					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1235C>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848735	0.71603	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.68903	-0.36;2.81	1.96	1.96	0.26148	.	0.000000	0.64402	U	0.000002	D	0.83695	0.5310	H	0.94385	3.53	0.35041	D	0.759777	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.953	D	0.88941	0.3380	10	0.87932	D	0	.	9.9298	0.41514	0.0:0.0:1.0:0.0	.	276;412	A6NCP7;P06133	.;UD2B4_HUMAN	V	412;276	ENSP00000305221:A412V;ENSP00000370486:A276V	ENSP00000305221:A412V	A	-	2	0	UGT2B4	70385590	1.000000	0.71417	0.055000	0.19348	0.008000	0.06430	4.627000	0.61276	1.425000	0.47237	0.305000	0.20034	GCT		0.423	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139	
SULT1B1	27284	broad.mit.edu	37	4	70620981	70620981	+	Splice_Site	SNP	T	T	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:70620981T>C	ENST00000310613.3	-	2	254		c.e2-2			NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ACAGTTGTTCTGGAGAAATAT	0.328																																						uc003hen.2																			0					0						c.e2-1		sulfotransferase family, cytosolic, 1B, member							28.0	31.0	30.0					4																	70620981		2202	4295	6497	SO:0001630	splice_region_variant	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70620981T>C	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.44-2A>G	4.37:g.70620981T>C								NM_014465	NP_055280	O43704	ST1B1_HUMAN			2	255	-								O15497|Q96FI1|Q9UK34	Splice_Site	SNP	ENST00000310613.3	37	c.-43_splice	CCDS3530.1																																																																																				0.328	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465	Intron
C4orf32	132720	broad.mit.edu	37	4	113107978	113107978	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:113107978C>T	ENST00000309733.5	+	2	467	c.283C>T	c.(283-285)Cga>Tga	p.R95*		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	95						integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		TTTTGGAGAACGAATAGTGGA	0.413																																						uc003iah.2																			0					0						c.(283-285)CGA>TGA		chromosome 4 open reading frame 32							242.0	229.0	234.0					4																	113107978		2203	4300	6503	SO:0001587	stop_gained	132720					integral to membrane		g.chr4:113107978C>T	AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.283C>T	4.37:g.113107978C>T	ENSP00000310182:p.Arg95*					C4orf32_uc003iai.2_RNA	p.R95*	NM_152400	NP_689613	Q8N8J7	CD032_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00198)	2	467	+		Ovarian(17;0.156)	95					Q49A91|Q4W5C7|Q8TBF9	Nonsense_Mutation	SNP	ENST00000309733.5	37	c.283C>T	CCDS3695.1	.	.	.	.	.	.	.	.	.	.	C	34	5.375610	0.95923	.	.	ENSG00000174749	ENST00000309733	.	.	.	5.71	3.85	0.44370	.	0.345720	0.31589	N	0.007398	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9118	13.6692	0.62414	0.4681:0.5319:0.0:0.0	.	.	.	.	X	95	.	ENSP00000310182:R95X	R	+	1	2	C4orf32	113327427	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	2.395000	0.44459	0.599000	0.29845	0.585000	0.79938	CGA		0.413	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400	
CEP72	55722	broad.mit.edu	37	5	637858	637858	+	Silent	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr5:637858C>T	ENST00000264935.5	+	7	1221	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	377					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AAAGCAGGAACGGGAGGACCT	0.622																																						uc003jbf.2																			0				ovary(1)	1						c.(1129-1131)AAC>AAT		centrosomal protein 72 kDa							36.0	33.0	34.0					5																	637858		2202	4300	6502	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:637858C>T	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1131C>T	5.37:g.637858C>T						CEP72_uc011clz.1_RNA	p.N377N	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		7	1203	+			377					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.1131C>T	CCDS34126.1																																																																																				0.622	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140	
CDH18	1016	broad.mit.edu	37	5	19721516	19721516	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr5:19721516C>T	ENST00000507958.1	-	7	1573	c.583G>A	c.(583-585)Gct>Act	p.A195T	CDH18_ENST00000506372.1_Missense_Mutation_p.A195T|CDH18_ENST00000511273.1_Missense_Mutation_p.A195T|CDH18_ENST00000502796.1_Missense_Mutation_p.A195T|CDH18_ENST00000382275.1_Missense_Mutation_p.A195T|CDH18_ENST00000274170.4_Missense_Mutation_p.A195T			Q13634	CAD18_HUMAN	cadherin 18, type 2	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A195T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCACCCGAGCGCTGTTTCCA	0.463																																						uc003jgc.2																			1	Substitution - Missense(1)	p.A195T(1)	ovary(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(583-585)GCT>ACT		cadherin 18, type 2 preproprotein							153.0	136.0	142.0					5																	19721516		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19721516C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.583G>A	5.37:g.19721516C>T	ENSP00000425093:p.Ala195Thr					CDH18_uc003jgd.2_Missense_Mutation_p.A195T|CDH18_uc011cnm.1_Missense_Mutation_p.A195T	p.A195T	NM_004934	NP_004925	Q13634	CAD18_HUMAN			4	960	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		195			Extracellular (Potential).|Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.583G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	36	5.694576	0.96793	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78863	-0.2036	9	.	.	.	.	17.9639	0.89094	0.0:1.0:0.0:0.0	.	195;195	B4DHG6;Q13634	.;CAD18_HUMAN	T	195;195;195;195;195;195;141;195	ENSP00000371710:A195T;ENSP00000425093:A195T;ENSP00000274170:A195T;ENSP00000424931:A195T;ENSP00000422138:A195T;ENSP00000427383:A141T;ENSP00000425854:A195T	.	A	-	1	0	CDH18	19757273	1.000000	0.71417	0.900000	0.35374	0.910000	0.53928	7.764000	0.85297	2.571000	0.86741	0.650000	0.86243	GCT		0.463	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
PCDHB16	57717	broad.mit.edu	37	5	140564331	140564331	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr5:140564331C>T	ENST00000361016.2	+	1	3352	c.2197C>T	c.(2197-2199)Cca>Tca	p.P733S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	733					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCCCTTTCCAGGGCGTCT	0.627																																						uc003liv.2																			0				ovary(1)|pancreas(1)	2						c.(2197-2199)CCA>TCA		protocadherin beta 16 precursor							77.0	86.0	83.0					5																	140564331		2203	4300	6503	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140564331C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2197C>T	5.37:g.140564331C>T	ENSP00000354293:p.Pro733Ser					PCDHB9_uc003liw.1_5'Flank	p.P733S	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3352	+			733			Cytoplasmic (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.2197C>T	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	c	16.24	3.067267	0.55539	.	.	ENSG00000196963	ENST00000361016	T	0.53640	0.61	4.08	4.08	0.47627	.	0.000000	0.34067	N	0.004300	T	0.55465	0.1922	M	0.81341	2.54	0.38231	D	0.941025	B	0.29432	0.244	B	0.39562	0.303	T	0.63897	-0.6533	10	0.56958	D	0.05	.	10.7635	0.46279	0.0:0.904:0.0:0.096	.	733	Q9NRJ7	PCDBG_HUMAN	S	733	ENSP00000354293:P733S	ENSP00000354293:P733S	P	+	1	0	PCDHB16	140544515	0.036000	0.19791	0.290000	0.24890	0.024000	0.10985	1.318000	0.33643	1.813000	0.52934	0.479000	0.44913	CCA		0.627	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
HIST1H1C	3006	broad.mit.edu	37	6	26056384	26056385	+	Frame_Shift_Ins	INS	-	-	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:26056384_26056385insC	ENST00000343677.2	-	1	314_315	c.272_273insG	c.(271-273)ggcfs	p.G91fs		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	91	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCACCAGAGTGCCCTTGCTCAC	0.545																																						uc003nfw.2																			0				ovary(3)|skin(2)	5						c.(271-273)GGCfs		histone cluster 1, H1c																																				SO:0001589	frameshift_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056384_26056385insC	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.273dupG	6.37:g.26056387_26056387dupC	ENSP00000339566:p.Gly91fs						p.G91fs	NM_005319	NP_005310	P16403	H12_HUMAN			1	315_316	-			91			H15.		A8K4I2	Frame_Shift_Ins	INS	ENST00000343677.2	37	c.272_273insG	CCDS4577.1																																																																																				0.545	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319	
DDX39B	7919	broad.mit.edu	37	6	31504459	31504459	+	Splice_Site	SNP	A	A	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:31504459A>C	ENST00000396172.1	-	5	1064	c.434T>G	c.(433-435)gTt>gGt	p.V145G	DDX39B_ENST00000458640.1_Splice_Site_p.V145G|DDX39B_ENST00000376177.2_Splice_Site_p.V145G|DDX39B_ENST00000415382.2_Splice_Site_p.V67G|DDX39B_ENST00000453105.2_Splice_Site_p.V98G|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Splice_Site_p.V160G|DDX39B_ENST00000449074.2_3'UTR|SNORD117_ENST00000364915.1_RNA	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	145	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AAAAACAGCAACCTGCCGAGC	0.498																																						uc003ntt.2																			0					0						c.(433-435)GTT>GGT		HLA-B associated transcript 1																																				SO:0001630	splice_region_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31504459A>C	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.433-1T>G	6.37:g.31504459A>C						BAT1_uc003ntr.2_5'Flank|BAT1_uc003nts.2_Missense_Mutation_p.V145G|BAT1_uc011dnn.1_Missense_Mutation_p.V67G|BAT1_uc003ntu.2_Missense_Mutation_p.V145G|BAT1_uc003ntv.2_Missense_Mutation_p.V145G|BAT1_uc003ntw.2_Missense_Mutation_p.V145G|BAT1_uc003ntx.2_Missense_Mutation_p.V145G|BAT1_uc011dno.1_Missense_Mutation_p.V98G|BAT1_uc011dnp.1_Missense_Mutation_p.V67G|SNORD117_uc003nty.1_5'Flank|BAT1_uc011dnq.1_RNA	p.V145G	NM_004640	NP_004631	Q13838	DX39B_HUMAN			5	1065	-			145			Helicase ATP-binding.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.434T>G	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.979046	0.92982	.	.	ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382;ENST00000431908;ENST00000427214;ENST00000453105;ENST00000428098;ENST00000419338;ENST00000456662;ENST00000428450;ENST00000449757	T;T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;3.23;3.23;3.23;3.23;3.23;0.65;2.21;0.65;0.65;2.21;0.65;0.65	5.22	5.22	0.72569	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.57888	0.2084	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D;P	0.71674	0.998;0.994;0.996;0.98;0.976;0.933	D;P;D;P;D;P	0.73380	0.951;0.846;0.98;0.735;0.909;0.793	T	0.63791	-0.6557	10	0.72032	D	0.01	-17.934	13.3208	0.60432	1.0:0.0:0.0:0.0	.	67;98;67;165;145;145	B4DIZ8;B4DIJ6;B4DP52;Q59G92;Q13838;Q5STU3	.;.;.;.;DX39B_HUMAN;.	G	145;145;145;160;67;67;145;98;145;145;145;173;168	ENSP00000365347:V145G;ENSP00000416269:V145G;ENSP00000379475:V145G;ENSP00000412582:V160G;ENSP00000392669:V67G;ENSP00000408000:V67G;ENSP00000399371:V145G;ENSP00000400328:V98G;ENSP00000392672:V145G;ENSP00000410313:V145G;ENSP00000416350:V145G;ENSP00000405707:V173G;ENSP00000409426:V168G	ENSP00000365347:V145G	V	-	2	0	DDX39B	31612438	1.000000	0.71417	0.969000	0.41365	0.704000	0.40688	4.382000	0.59594	2.085000	0.62840	0.528000	0.53228	GTT		0.498	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640	Missense_Mutation
GABRR2	2570	broad.mit.edu	37	6	89975454	89975454	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:89975454G>A	ENST00000402938.3	-	7	900	c.767C>T	c.(766-768)aCg>aTg	p.T256M	GABRR2_ENST00000602399.1_Missense_Mutation_p.T281M	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	256					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GCGACGCAACGTGAAGTTAAT	0.517																																						uc003pnb.2																			0					0						c.(841-843)ACG>ATG		gamma-aminobutyric acid (GABA) receptor, rho 2							175.0	140.0	152.0					6																	89975454		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89975454G>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.767C>T	6.37:g.89975454G>A	ENSP00000386029:p.Thr256Met					GABRR2_uc011dzx.1_Missense_Mutation_p.T157M	p.T281M	NM_002043	NP_002034	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	7	850	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	281			Extracellular (Probable).		A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.842C>T	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515533	0.64634	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.74038	0.3664	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70575	-0.4834	8	.	.	.	.	20.1111	0.97911	0.0:0.0:1.0:0.0	.	281	P28476	GBRR2_HUMAN	M	281	.	.	T	-	2	0	GABRR2	90032173	1.000000	0.71417	0.969000	0.41365	0.500000	0.33767	6.597000	0.74118	2.741000	0.93983	0.655000	0.94253	ACG		0.517	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3		
ZBTB2	57621	broad.mit.edu	37	6	151687420	151687420	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:151687420G>A	ENST00000325144.4	-	3	921	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GTGAAGCGCCGTCCACACAGG	0.557																																						uc003qoh.2																			0				skin(1)	1						c.(781-783)CGG>TGG		zinc finger and BTB domain containing 2							164.0	139.0	147.0					6																	151687420		2203	4300	6503	SO:0001583	missense	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687420G>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.781C>T	6.37:g.151687420G>A	ENSP00000323183:p.Arg261Trp						p.R261W	NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	916	-			261			C2H2-type 1.		A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	c.781C>T	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402953	0.62288	.	.	ENSG00000181472	ENST00000325144	T	0.55588	0.51	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.094233	0.85682	D	0.000000	T	0.64897	0.2640	L	0.54863	1.705	0.49687	D	0.999816	D	0.89917	1.0	D	0.71184	0.972	T	0.66333	-0.5950	10	0.87932	D	0	-40.9617	19.9759	0.97304	0.0:0.0:1.0:0.0	.	261	Q8N680	ZBTB2_HUMAN	W	261	ENSP00000323183:R261W	ENSP00000323183:R261W	R	-	1	2	ZBTB2	151729113	1.000000	0.71417	0.966000	0.40874	0.943000	0.58893	4.634000	0.61325	2.713000	0.92767	0.655000	0.94253	CGG		0.557	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861	
EGFR	1956	broad.mit.edu	37	7	55220295	55220295	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:55220295A>T	ENST00000275493.2	+	6	862	c.685A>T	c.(685-687)Agt>Tgt	p.S229C	EGFR_ENST00000344576.2_Missense_Mutation_p.S229C|EGFR_ENST00000455089.1_Missense_Mutation_p.S184C|EGFR_ENST00000454757.2_Missense_Mutation_p.S176C|EGFR_ENST00000420316.2_Missense_Mutation_p.S229C|EGFR_ENST00000442591.1_Missense_Mutation_p.S229C|EGFR_ENST00000342916.3_Missense_Mutation_p.S229C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	229			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAAGTCCCCCAGTGACTGCTG	0.617		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(685-687)AGT>TGT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						66.0	76.0	73.0					7																	55220295		2203	4299	6502	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55220295A>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.685A>T	7.37:g.55220295A>T	ENSP00000275493:p.Ser229Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.S229C|EGFR_uc003tqi.2_Missense_Mutation_p.S229C|EGFR_uc003tqj.2_Missense_Mutation_p.S229C|EGFR_uc010kzg.1_Missense_Mutation_p.S184C|EGFR_uc011kco.1_Missense_Mutation_p.S176C|EGFR_uc003tql.1_RNA	p.S229C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	931	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		229			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.685A>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802635	0.90623	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.080531	0.85682	D	0.000000	T	0.66237	0.2769	M	0.83223	2.63	0.46823	D	0.999219	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.998;0.997	D;P;D;P;P	0.70935	0.971;0.895;0.96;0.831;0.784	T	0.72020	-0.4416	10	0.72032	D	0.01	.	14.0594	0.64790	1.0:0.0:0.0:0.0	.	184;229;229;229;229	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	184;229;99;229;229;229;229;176;23	ENSP00000415559:S184C;ENSP00000342376:S229C;ENSP00000345973:S229C;ENSP00000413843:S229C;ENSP00000275493:S229C;ENSP00000410031:S229C;ENSP00000395243:S176C	ENSP00000275493:S229C	S	+	1	0	EGFR	55187789	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.250000	0.72435	1.981000	0.57761	0.533000	0.62120	AGT		0.617	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
MUC17	140453	broad.mit.edu	37	7	100677499	100677499	+	Silent	SNP	G	G	A	rs563806733		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:100677499G>A	ENST00000306151.4	+	3	2866	c.2802G>A	c.(2800-2802)acG>acA	p.T934T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	934	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAGCACCACGCCGGTAGTCA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		34565	0.001		0.0	False		,,,				2504	0.0					uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2800-2802)ACG>ACA		mucin 17 precursor							381.0	328.0	346.0					7																	100677499		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677499G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2802G>A	7.37:g.100677499G>A						MUC17_uc010lho.1_RNA	p.T934T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2855	+	Lung NSC(181;0.136)|all_lung(186;0.182)		934			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.2802G>A	CCDS34711.1																																																																																				0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
OR2F1	26211	broad.mit.edu	37	7	143657328	143657328	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:143657328C>A	ENST00000392899.1	+	1	302	c.265C>A	c.(265-267)Cat>Aat	p.H89N	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	89					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TCTTGCAGAACATAAAGCCAT	0.512																																						uc003wds.1																			0				skin(2)|ovary(1)	3						c.(265-267)CAT>AAT		olfactory receptor, family 2, subfamily F,							202.0	191.0	195.0					7																	143657328		2203	4300	6503	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657328C>A	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.265C>A	7.37:g.143657328C>A	ENSP00000376633:p.His89Asn						p.H89N	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			1	309	+	Melanoma(164;0.0903)		89			Extracellular (Potential).		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.265C>A	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	C	4.478	0.088681	0.08583	.	.	ENSG00000213215	ENST00000392899	T	0.12569	2.67	5.41	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.489563	0.19214	N	0.119845	T	0.06416	0.0165	N	0.03881	-0.34	0.09310	N	1	B	0.30511	0.282	B	0.27076	0.076	T	0.33292	-0.9874	10	0.31617	T	0.26	-6.7634	12.1368	0.53977	0.0:0.9174:0.0:0.0826	.	89	Q13607	OR2F1_HUMAN	N	89	ENSP00000376633:H89N	ENSP00000376633:H89N	H	+	1	0	OR2F1	143288261	0.000000	0.05858	0.007000	0.13788	0.072000	0.16883	-0.124000	0.10595	1.513000	0.48852	0.655000	0.94253	CAT		0.512	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1		
EZH2	2146	broad.mit.edu	37	7	148512600	148512600	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:148512600T>C	ENST00000460911.1	-	13	1617	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	EZH2_ENST00000476773.1_Missense_Mutation_p.K501R|EZH2_ENST00000483967.1_Missense_Mutation_p.K501R|EZH2_ENST00000320356.2_Missense_Mutation_p.K515R|EZH2_ENST00000541220.1_Missense_Mutation_p.K501R|EZH2_ENST00000350995.2_Missense_Mutation_p.K471R|EZH2_ENST00000478654.1_Missense_Mutation_p.K501R			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	510	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATGCTAACCCTTTTTCAGCTG	0.368			Mis		DLBCL																																	uc003wfd.1				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(1528-1530)AAG>AGG		enhancer of zeste 2 isoform a							150.0	144.0	146.0					7																	148512600		2203	4300	6503	SO:0001583	missense	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148512600T>C		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1529A>G	7.37:g.148512600T>C	ENSP00000419711:p.Lys510Arg					EZH2_uc011kug.1_Missense_Mutation_p.K501R|EZH2_uc003wfb.1_Missense_Mutation_p.K515R|EZH2_uc003wfc.1_Missense_Mutation_p.K471R|EZH2_uc011kuh.1_Missense_Mutation_p.K501R	p.K510R	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		13	1695	-	Melanoma(164;0.15)		510					B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.1529A>G	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	t	27.5	4.839567	0.91117	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;D;D;D;D;D;D	0.94687	-3.44;-3.49;-3.49;-3.48;-3.44;-3.44;-3.49	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.96244	0.8775	L	0.60455	1.87	0.80722	D	1	P;P;D;P;D	0.76494	0.635;0.799;0.992;0.635;0.999	B;P;P;B;D	0.80764	0.347;0.465;0.765;0.347;0.994	D	0.95704	0.8752	10	0.38643	T	0.18	.	15.542	0.76057	0.0:0.0:0.0:1.0	.	501;501;510;471;515	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	R	501;515;510;471;501;501;501	ENSP00000417062:K501R;ENSP00000320147:K515R;ENSP00000419711:K510R;ENSP00000223193:K471R;ENSP00000443219:K501R;ENSP00000419050:K501R;ENSP00000419856:K501R	ENSP00000320147:K515R	K	-	2	0	EZH2	148143533	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.351000	0.79395	2.064000	0.61679	0.533000	0.62120	AAG		0.368	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456	
NCOA2	10499	broad.mit.edu	37	8	71068332	71068338	+	Frame_Shift_Del	DEL	ATCTTTA	ATCTTTA	-			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr8:71068332_71068338delATCTTTA	ENST00000452400.2	-	11	2443_2449	c.2262_2268delTAAAGAT	c.(2260-2268)actaaagatfs	p.TKD754fs	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	754					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTAAACCAATATCTTTAGTATCATCTT	0.411			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	0				lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(2260-2268)ACTAAAGATfs		nuclear receptor coactivator 2																																				SO:0001589	frameshift_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71068332_71068338delATCTTTA	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2262_2268delTAAAGAT	8.37:g.71068332_71068338delATCTTTA	ENSP00000399968:p.Thr754fs						p.T754fs	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	2424_2430	-	Breast(64;0.201)		754_756					Q14CD2	Frame_Shift_Del	DEL	ENST00000452400.2	37	c.2262_2268delTAAAGAT	CCDS47872.1																																																																																				0.411	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		
SPATA31A6	389730	broad.mit.edu	37	9	43630642	43630642	+	Silent	SNP	G	G	A	rs2808959		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr9:43630642G>A	ENST00000332857.6	-	1	88	c.60C>T	c.(58-60)agC>agT	p.S20S	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	20					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.S20S(1)									ATGGTGTGGAGCTGGGGGCGT	0.473																																						uc011lrb.1																			1	Substitution - coding silent(1)		endometrium(1)		0						c.(58-60)AGC>AGT		hypothetical protein LOC389730																																				SO:0001819	synonymous_variant	389730					integral to membrane		g.chr9:43630642G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.60C>T	9.37:g.43630642G>A							p.S20S	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			1	89	-			20						Silent	SNP	ENST00000332857.6	37	c.60C>T	CCDS47973.1																																																																																				0.473	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196	
COL5A1	1289	broad.mit.edu	37	9	137676834	137676834	+	Splice_Site	SNP	G	G	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr9:137676834G>T	ENST00000371817.3	+	30	2898		c.e30-1			NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTGGCTTGCAGGGGGAGATCG	0.632																																						uc004cfe.2																			0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.e30-1		alpha 1 type V collagen preproprotein							30.0	37.0	34.0					9																	137676834		2202	4300	6502	SO:0001630	splice_region_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137676834G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2485-1G>T	9.37:g.137676834G>T							p.G829_splice	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	30	2867	+		Myeloproliferative disorder(178;0.0341)						Q15094|Q5SUX4	Splice_Site	SNP	ENST00000371817.3	37	c.2485_splice	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	g	18.52	3.642175	0.67244	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7525	0.77997	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL5A1	136816655	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	8.451000	0.90343	1.999000	0.58509	0.298000	0.19748	.		0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	Intron
MAGEC1	9947	broad.mit.edu	37	X	140994696	140994696	+	Silent	SNP	T	T	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chrX:140994696T>A	ENST00000285879.4	+	4	1792	c.1506T>A	c.(1504-1506)acT>acA	p.T502T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	502										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGTGTACTCAAAGTACTT	0.498										HNSCC(15;0.026)																												uc004fbt.2																			0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1504-1506)ACT>ACA		melanoma antigen family C, 1							116.0	126.0	123.0					X																	140994696		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994696T>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1506T>A	X.37:g.140994696T>A		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.T502T	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1506T>A	CCDS35417.1																																																																																				0.498	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
