#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
NPHP4	261734	broad.mit.edu	37	1	5969224	5969224	+	Silent	SNP	A	A	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:5969224A>T	ENST00000378156.4	-	12	1756	c.1491T>A	c.(1489-1491)ccT>ccA	p.P497P	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	497					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGTCCCACAGGTGAGTTCT	0.597																																						uc001alq.1																			0				pancreas(1)	1						c.(1489-1491)CCT>CCA		nephroretinin							27.0	31.0	30.0					1																	5969224		1919	4111	6030	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5969224A>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1491T>A	1.37:g.5969224A>T						NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_Intron|NPHP4_uc001alt.1_Intron	p.P497P	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	12	1757	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	497					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.1491T>A	CCDS44052.1																																																																																				0.597	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		
TNFRSF1B	7133	broad.mit.edu	37	1	12253032	12253032	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:12253032A>C	ENST00000376259.3	+	6	753	c.664A>C	c.(664-666)Aca>Cca	p.T222P	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	222					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)	p.T222P(1)		central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	GCCAGTGTCCACACGATCCCA	0.637																																						uc001att.2																			1	Substitution - Missense(1)	p.T222P(1)	central_nervous_system(1)	liver(1)|central_nervous_system(1)|skin(1)	3						c.(664-666)ACA>CCA		tumor necrosis factor receptor 2 precursor	Etanercept(DB00005)|Infliximab(DB00065)						181.0	130.0	147.0					1																	12253032		2203	4300	6503	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12253032A>C	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.664A>C	1.37:g.12253032A>C	ENSP00000365435:p.Thr222Pro					TNFRSF1B_uc001atu.2_Missense_Mutation_p.T27P|TNFRSF1B_uc009vnk.2_RNA	p.T222P	NM_001066	NP_001057	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	6	753	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	222			Extracellular (Potential).		B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.664A>C	CCDS145.1	.	.	.	.	.	.	.	.	.	.	A	9.899	1.206383	0.22205	.	.	ENSG00000028137	ENST00000376259;ENST00000400863	D	0.87491	-2.26	3.98	1.4	0.22301	.	1.558280	0.03882	N	0.277190	D	0.83312	0.5227	L	0.51422	1.61	0.09310	N	0.999999	B	0.12630	0.006	B	0.10450	0.005	T	0.65594	-0.6130	10	0.62326	D	0.03	-0.9444	4.3122	0.10976	0.5872:0.2103:0.0:0.2026	.	222	P20333	TNR1B_HUMAN	P	222	ENSP00000365435:T222P	ENSP00000365435:T222P	T	+	1	0	TNFRSF1B	12175619	0.000000	0.05858	0.012000	0.15200	0.009000	0.06853	0.195000	0.17155	0.146000	0.19002	0.533000	0.62120	ACA		0.637	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066	
THRAP3	9967	broad.mit.edu	37	1	36752347	36752347	+	Silent	SNP	T	T	C			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:36752347T>C	ENST00000354618.5	+	4	740	c.516T>C	c.(514-516)tcT>tcC	p.S172S	THRAP3_ENST00000469141.2_Silent_p.S172S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	172	Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGAATCTTCTAAGCGCAAGT	0.527			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	uc001cae.3				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				ovary(5)|lung(3)|breast(1)	9						c.(514-516)TCT>TCC		thyroid hormone receptor associated protein 3							197.0	208.0	204.0					1																	36752347		2203	4300	6503	SO:0001819	synonymous_variant	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752347T>C	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.516T>C	1.37:g.36752347T>C						THRAP3_uc001caf.3_Silent_p.S172S|THRAP3_uc001cag.1_Silent_p.S172S	p.S172S	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN			4	740	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	172			Ser-rich.		D3DPS5|Q5VTK6	Silent	SNP	ENST00000354618.5	37	c.516T>C	CCDS405.1																																																																																				0.527	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119	
C8A	731	broad.mit.edu	37	1	57383364	57383364	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:57383364G>A	ENST00000361249.3	+	11	1826	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	577	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGTCCAGGGCGGAAAGTACAG	0.557																																						uc001cyo.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1729-1731)CGG>CAG		complement component 8, alpha polypeptide							55.0	55.0	55.0					1																	57383364		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57383364G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1730G>A	1.37:g.57383364G>A	ENSP00000354458:p.Arg577Gln						p.R577Q	NM_000562	NP_000553	P07357	CO8A_HUMAN			11	1862	+			577			TSP type-1 2.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1730G>A	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063564	0.36373	.	.	ENSG00000157131	ENST00000361249	T	0.52057	0.68	4.82	-6.34	0.01982	.	1.636630	0.02956	N	0.142483	T	0.24736	0.0600	N	0.16478	0.41	0.09310	N	1	P	0.46220	0.874	B	0.35688	0.208	T	0.29882	-0.9997	10	0.21014	T	0.42	0.9078	8.9304	0.35666	0.4956:0.1035:0.4009:0.0	.	577	P07357	CO8A_HUMAN	Q	577	ENSP00000354458:R577Q	ENSP00000354458:R577Q	R	+	2	0	C8A	57155952	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.804000	0.01738	-1.030000	0.03312	-0.251000	0.11542	CGG		0.557	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	
LPAR3	23566	broad.mit.edu	37	1	85331129	85331142	+	Frame_Shift_Del	DEL	ACTTGTATGCGGAG	ACTTGTATGCGGAG	-	rs140283678|rs149462985|rs571116834|rs549882595	byFrequency	TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:85331129_85331142delACTTGTATGCGGAG	ENST00000440886.1	-	1	700_713	c.662_675delCTCCGCATACAAGT	c.(661-675)tctccgcatacaagtfs	p.SPHTS221fs	LPAR3_ENST00000370611.3_Frame_Shift_Del_p.SPHTS221fs|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	221					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TGATGGACCCACTTGTATGCGGAGACAAGACGTT	0.509																																						uc001dkl.2																			0				lung(3)|ovary(2)	5						c.(661-675)TCTCCGCATACAAGTfs		lysophosphatidic acid receptor 3																																				SO:0001589	frameshift_variant	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331129_85331142delACTTGTATGCGGAG	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.662_675delCTCCGCATACAAGT	1.37:g.85331129_85331142delACTTGTATGCGGAG	ENSP00000395389:p.Ser221fs					LPAR3_uc009wcj.1_Frame_Shift_Del_p.S221fs	p.S221fs	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			1	701_714	-			221_225			Cytoplasmic (Potential).		A0AVA3	Frame_Shift_Del	DEL	ENST00000440886.1	37	c.662_675delCTCCGCATACAAGT	CCDS700.1																																																																																				0.509	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152	
SYDE2	84144	broad.mit.edu	37	1	85648703	85648703	+	Missense_Mutation	SNP	C	C	T	rs561704514		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:85648703C>T	ENST00000341460.5	-	3	1671	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	541					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GCTTAGCTTTCGGCTAAATTC	0.338																																						uc009wcm.2																			0				ovary(1)|central_nervous_system(1)	2						c.(1621-1623)CGA>CAA		synapse defective 1, Rho GTPase, homolog 2							160.0	163.0	162.0					1																	85648703		1820	4074	5894	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85648703C>T	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1622G>A	1.37:g.85648703C>T	ENSP00000340594:p.Arg541Gln					SYDE2_uc001dku.3_Missense_Mutation_p.R541Q	p.R541Q	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	3	1671	-			541					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.1622G>A	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584873	0.86748	.	.	ENSG00000097096	ENST00000341460	T	0.30981	1.51	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.54111	0.1838	M	0.81942	2.565	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.59716	-0.7402	10	0.72032	D	0.01	.	19.1693	0.93570	0.0:1.0:0.0:0.0	.	541;541	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	Q	541	ENSP00000340594:R541Q	ENSP00000340594:R541Q	R	-	2	0	SYDE2	85421291	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.484000	0.81180	2.554000	0.86153	0.644000	0.83932	CGA		0.338	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2		
KCNA10	3744	broad.mit.edu	37	1	111060591	111060591	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:111060591C>A	ENST00000369771.2	-	1	1206	c.819G>T	c.(817-819)atG>atT	p.M273I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	273					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TAGACTCCACCATGAAGAAAG	0.532																																						uc001dzt.1																			0				ovary(3)|large_intestine(1)	4						c.(817-819)ATG>ATT		potassium voltage-gated channel, shaker-related							181.0	142.0	155.0					1																	111060591		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060591C>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.819G>T	1.37:g.111060591C>A	ENSP00000358786:p.Met273Ile						p.M273I	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1207	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	273			Helical; Name=Segment S2; (Potential).			Missense_Mutation	SNP	ENST00000369771.2	37	c.819G>T	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	0.422	-0.907793	0.02434	.	.	ENSG00000143105	ENST00000369771	D	0.98044	-4.68	5.8	5.8	0.92144	.	0.316013	0.37219	N	0.002193	T	0.75932	0.3917	N	0.00128	-2.045	0.35983	D	0.836135	B	0.02656	0.0	B	0.04013	0.001	T	0.73711	-0.3897	10	0.02654	T	1	.	15.0643	0.71980	0.0:0.8575:0.1425:0.0	.	273	Q16322	KCA10_HUMAN	I	273	ENSP00000358786:M273I	ENSP00000358786:M273I	M	-	3	0	KCNA10	110862114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.874000	0.39568	2.749000	0.94314	0.655000	0.94253	ATG		0.532	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
FLG2	388698	broad.mit.edu	37	1	152326339	152326339	+	Missense_Mutation	SNP	C	C	T	rs201967124		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:152326339C>T	ENST00000388718.5	-	3	3995	c.3923G>A	c.(3922-3924)cGc>cAc	p.R1308H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1308					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTTCTGCGAACTGTGGA	0.473																																						uc001ezw.3																			0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(3922-3924)CGC>CAC		filaggrin family member 2		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	406.0	354.0	372.0		3923	-4.5	0.0	1		372	0,8600	1.2+/-3.3	0,0,4300	yes	missense	FLG2	NM_001014342.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	1308/2392	152326339	2,13004	2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326339C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3923G>A	1.37:g.152326339C>T	ENSP00000373370:p.Arg1308His					uc001ezv.2_Intron	p.R1308H	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3996	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1308					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3923G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	9.390	1.075378	0.20227	4.54E-4	0.0	ENSG00000143520	ENST00000388718	T	0.19532	2.14	3.26	-4.51	0.03483	.	.	.	.	.	T	0.03095	0.0091	N	0.11698	0.16	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.43829	-0.9367	9	0.36615	T	0.2	.	9.5514	0.39313	0.0:0.7025:0.0:0.2975	.	1308	Q5D862	FILA2_HUMAN	H	1308	ENSP00000373370:R1308H	ENSP00000373370:R1308H	R	-	2	0	FLG2	150592963	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.460000	0.00463	-0.814000	0.04352	-0.811000	0.03165	CGC		0.473	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
ETV3L	440695	broad.mit.edu	37	1	157068567	157068567	+	Silent	SNP	G	G	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:157068567G>T	ENST00000454449.2	-	3	701	c.417C>A	c.(415-417)tcC>tcA	p.S139S		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	139					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GCAAGTGGGGGGATGGCGGCG	0.602																																						uc001fqq.1																			0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(415-417)TCC>TCA		ets variant 3-like							57.0	63.0	61.0					1																	157068567		2203	4300	6503	SO:0001819	synonymous_variant	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068567G>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.417C>A	1.37:g.157068567G>T							p.S139S	NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN			3	702	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	139						Silent	SNP	ENST00000454449.2	37	c.417C>A	CCDS30893.1																																																																																				0.602	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341	
PVRL4	81607	broad.mit.edu	37	1	161043074	161043074	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:161043074C>T	ENST00000368012.3	-	8	1551	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	PVRL4_ENST00000453926.2_Intron|PVRL4_ENST00000486694.1_Intron	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	417					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCTCTCAGCCCTACACTCTCC	0.652																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2																			0				ovary(2)	2						c.(1249-1251)GGG>AGG		poliovirus receptor-related 4 precursor							66.0	62.0	63.0					1																	161043074		2203	4300	6503	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161043074C>T	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1249G>A	1.37:g.161043074C>T	ENSP00000356991:p.Gly417Arg					PVRL4_uc010pjy.1_Intron|PVRL4_uc010pjz.1_Intron	p.G417R	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		8	1548	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		417			Cytoplasmic (Potential).		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.1249G>A	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028304	0.54790	.	.	ENSG00000143217	ENST00000368012	T	0.39787	1.06	4.58	4.58	0.56647	.	0.000000	0.47093	D	0.000257	T	0.27489	0.0675	N	0.14661	0.345	0.80722	D	1	D	0.69078	0.997	P	0.59115	0.852	T	0.06180	-1.0841	10	0.25751	T	0.34	.	12.8862	0.58045	0.0:1.0:0.0:0.0	.	417	Q96NY8	PVRL4_HUMAN	R	417	ENSP00000356991:G417R	ENSP00000356991:G417R	G	-	1	0	PVRL4	159309698	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.810000	0.47979	2.081000	0.62600	0.655000	0.94253	GGG		0.652	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916	
RGS1	5996	broad.mit.edu	37	1	192547487	192547487	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:192547487C>G	ENST00000367459.3	+	4	482	c.416C>G	c.(415-417)gCa>gGa	p.A139G	RGS1_ENST00000469578.2_Missense_Mutation_p.A139G	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	139	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				ATATATAAAGCATTTGTGCAT	0.343																																						uc001gsi.1																			0					0						c.(415-417)GCA>GGA		regulator of G-protein signalling 1							125.0	129.0	128.0					1																	192547487		2203	4300	6503	SO:0001583	missense	5996				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192547487C>G	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.416C>G	1.37:g.192547487C>G	ENSP00000356429:p.Ala139Gly					RGS1_uc010pou.1_Missense_Mutation_p.A139G	p.A139G	NM_002922	NP_002913	Q08116	RGS1_HUMAN			4	482	+		Breast(1374;0.188)	139			RGS.		B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	c.416C>G	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	C	7.601	0.672794	0.14776	.	.	ENSG00000090104	ENST00000367459	T	0.02050	4.48	5.91	3.06	0.35304	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.304323	0.31821	N	0.007001	T	0.02688	0.0081	L	0.36672	1.1	0.09310	N	1	B;B	0.31274	0.317;0.004	B;B	0.36567	0.228;0.026	T	0.40850	-0.9541	10	0.66056	D	0.02	.	6.903	0.24293	0.1825:0.6267:0.0:0.1908	.	139;139	Q08116-2;Q08116	.;RGS1_HUMAN	G	139	ENSP00000356429:A139G	ENSP00000356429:A139G	A	+	2	0	RGS1	190814110	0.947000	0.32204	0.710000	0.30468	0.838000	0.47535	1.615000	0.36922	0.140000	0.18849	-1.761000	0.00669	GCA		0.343	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922	
THNSL1	79896	broad.mit.edu	37	10	25313145	25313145	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr10:25313145G>A	ENST00000524413.1	+	3	1340	c.993G>A	c.(991-993)agG>agA	p.R331R	THNSL1_ENST00000376356.4_Silent_p.R331R			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	331						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	CTCCTGTCAGGCACCTTTCAG	0.433																																						uc001isi.3																			0				pancreas(1)	1						c.(991-993)AGG>AGA		threonine synthase-like 1	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						86.0	77.0	80.0					10																	25313145		2203	4300	6503	SO:0001819	synonymous_variant	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25313145G>A	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.993G>A	10.37:g.25313145G>A						ENKUR_uc001ish.1_Intron	p.R331R	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN			3	1322	+			331					B3KWL1|D3DRV3|Q5VV21	Silent	SNP	ENST00000524413.1	37	c.993G>A	CCDS7147.1																																																																																				0.433	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838	
CNNM2	54805	broad.mit.edu	37	10	104836896	104836896	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr10:104836896A>T	ENST00000369878.4	+	8	2775	c.2587A>T	c.(2587-2589)Agt>Tgt	p.S863C	CNNM2_ENST00000433628.2_Missense_Mutation_p.S841C	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	863					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGTGACGCACAGTAAGGCCAA	0.617																																						uc001kwm.2																			0				ovary(1)|central_nervous_system(1)	2						c.(2587-2589)AGT>TGT		cyclin M2 isoform 1							83.0	90.0	88.0					10																	104836896		2136	4235	6371	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104836896A>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2587A>T	10.37:g.104836896A>T	ENSP00000358894:p.Ser863Cys					CNNM2_uc001kwn.2_Missense_Mutation_p.S841C	p.S863C	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	8	2711	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	863					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.2587A>T	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.942242	0.73672	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419;ENST00000541201	T	0.74002	-0.8	5.69	0.788	0.18601	.	0.648102	0.17371	N	0.176697	T	0.57932	0.2087	N	0.14661	0.345	0.28427	N	0.917453	B;B	0.31351	0.32;0.214	B;B	0.36378	0.223;0.111	T	0.54410	-0.8298	10	0.62326	D	0.03	.	9.2706	0.37668	0.7282:0.0:0.2718:0.0	.	841;863	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	C	864;842;863;841;562	ENSP00000358894:S863C	ENSP00000286899:S841C	S	+	1	0	CNNM2	104826886	0.992000	0.36948	0.004000	0.12327	0.993000	0.82548	3.075000	0.50073	-0.098000	0.12285	0.454000	0.30748	AGT		0.617	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649	
SMC3	9126	broad.mit.edu	37	10	112350834	112350834	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr10:112350834A>G	ENST00000361804.4	+	17	1882	c.1756A>G	c.(1756-1758)Act>Gct	p.T586A		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	586	Flexible hinge.				DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGGAGAGGTTACTTTTCTGCC	0.328																																						uc001kze.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1756-1758)ACT>GCT		structural maintenance of chromosomes 3							100.0	99.0	99.0					10																	112350834		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112350834A>G	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1756A>G	10.37:g.112350834A>G	ENSP00000354720:p.Thr586Ala						p.T586A	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	17	1882	+		Breast(234;0.0848)|Lung NSC(174;0.238)	586			Flexible hinge.		A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.1756A>G	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.782309	0.90282	.	.	ENSG00000108055	ENST00000361804	D	0.89050	-2.46	6.08	6.08	0.98989	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.95472	0.8529	M	0.92459	3.31	0.80722	D	1	D	0.64830	0.994	D	0.63381	0.914	D	0.96305	0.9224	10	0.87932	D	0	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	586	Q9UQE7	SMC3_HUMAN	A	586	ENSP00000354720:T586A	ENSP00000354720:T586A	T	+	1	0	SMC3	112340824	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	8.896000	0.92521	2.333000	0.79357	0.533000	0.62120	ACT		0.328	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445	
RAG2	5897	broad.mit.edu	37	11	36614899	36614899	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr11:36614899C>A	ENST00000311485.3	-	2	981	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000534635.1_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000347206.4_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	274					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TAGCCACCAACAATAACAAAT	0.428									Familial Hemophagocytic Lymphohistiocytosis																													uc001mwv.3																			0				skin(3)|ovary(1)|pancreas(1)	5						c.(820-822)GTT>TTT		recombination activating gene 2							83.0	84.0	84.0					11																	36614899		2202	4298	6500	SO:0001583	missense	5897	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614899C>A	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.820G>T	11.37:g.36614899C>A	ENSP00000308620:p.Val274Phe					C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	p.V274F	NM_000536	NP_000527	P55895	RAG2_HUMAN			2	1008	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	274					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.820G>T	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987402	0.53934	.	.	ENSG00000175097	ENST00000311485	T	0.73258	-0.73	5.42	5.42	0.78866	Galactose oxidase/kelch, beta-propeller (1);	0.145168	0.46442	D	0.000283	D	0.85647	0.5745	M	0.90309	3.105	0.49798	D	0.999825	D	0.71674	0.998	D	0.70227	0.968	D	0.87278	0.2290	10	0.51188	T	0.08	-1.574	13.5098	0.61504	0.0:0.9253:0.0:0.0747	.	274	P55895	RAG2_HUMAN	F	274	ENSP00000308620:V274F	ENSP00000308620:V274F	V	-	1	0	RAG2	36571475	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	2.162000	0.42367	2.542000	0.85734	0.650000	0.86243	GTT		0.428	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536	
PPME1	51400	broad.mit.edu	37	11	73964552	73964552	+	Silent	SNP	T	T	C			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr11:73964552T>C	ENST00000328257.8	+	14	1481	c.1158T>C	c.(1156-1158)tgT>tgC	p.C386C	SNORA7_ENST00000384186.1_RNA|PPME1_ENST00000543525.1_Silent_p.C199C|PPME1_ENST00000398427.4_Silent_p.C400C			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	386					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TTCCTGGCTGTTAGTGACCTG	0.498																																						uc001ouw.2																			0					0						c.(1156-1158)TGT>TGC		protein phosphatase methylesterase 1							223.0	225.0	224.0					11																	73964552		2077	4209	6286	SO:0001819	synonymous_variant	51400				protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	g.chr11:73964552T>C		CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.1158T>C	11.37:g.73964552T>C						PPME1_uc009yty.2_Silent_p.C270C|PPME1_uc001oux.2_Silent_p.C199C|P4HA3_uc001ouy.3_Intron	p.C386C	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN			14	1257	+	Breast(11;3.29e-05)		386					B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Silent	SNP	ENST00000328257.8	37	c.1158T>C	CCDS44678.1																																																																																				0.498	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398254.1	NM_016147	
HMBS	3145	broad.mit.edu	37	11	118962836	118962836	+	Splice_Site	SNP	T	T	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr11:118962836T>G	ENST00000278715.3	+	10	765	c.614T>G	c.(613-615)aTc>aGc	p.I205S	HMBS_ENST00000442944.2_Splice_Site_p.I188S|HMBS_ENST00000537841.1_Splice_Site_p.I188S|HMBS_ENST00000542729.1_Splice_Site_p.I188S|HMBS_ENST00000544387.1_Splice_Site_p.I205S|HMBS_ENST00000543090.1_Intron|HMBS_ENST00000392841.1_Splice_Site_p.I188S	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	205					heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CCTCCACAGATCCTGCACCCT	0.537																																						uc001puz.1																			0					0						c.(613-615)ATC>AGC		hydroxymethylbilane synthase isoform 1							97.0	88.0	91.0					11																	118962836		2200	4295	6495	SO:0001630	splice_region_variant	3145	Porphyria_Acute_Intermittent			peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	g.chr11:118962836T>G	X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.613-1T>G	11.37:g.118962836T>G						HMBS_uc009zao.1_Missense_Mutation_p.I150S|HMBS_uc001pvc.1_Missense_Mutation_p.I150S|HMBS_uc009zap.1_Missense_Mutation_p.I188S|HMBS_uc001pva.1_Missense_Mutation_p.I205S|HMBS_uc001pvb.1_Intron|HMBS_uc001pvd.1_Missense_Mutation_p.I188S|HMBS_uc001pve.1_Missense_Mutation_p.I188S|HMBS_uc001pvf.1_Missense_Mutation_p.I188S	p.I205S	NM_000190	NP_000181	P08397	HEM3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	10	771	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	205					A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	ENST00000278715.3	37	c.614T>G	CCDS8409.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.499198	0.64298	.	.	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000537841;ENST00000542729;ENST00000546302;ENST00000544387;ENST00000392841;ENST00000442944	D;D;D;D;D;D;D	0.99698	-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44	5.3	5.3	0.74995	Porphobilinogen deaminase, N-terminal (1);	0.311181	0.38837	N	0.001556	D	0.98912	0.9631	L	0.57536	1.79	0.80722	D	1	B;B;B;B	0.14438	0.008;0.008;0.0;0.01	B;B;B;B	0.25291	0.005;0.012;0.013;0.059	D	0.99974	1.2135	10	0.26408	T	0.33	-11.1264	14.5779	0.68262	0.0:0.0:0.0:1.0	.	188;188;205;205	P08397-2;G3V1P4;G5EA58;P08397	.;.;.;HEM3_HUMAN	S	205;188;188;179;205;188;188	ENSP00000278715:I205S;ENSP00000444730:I188S;ENSP00000443058:I188S;ENSP00000445599:I179S;ENSP00000438424:I205S;ENSP00000376584:I188S;ENSP00000392041:I188S	ENSP00000392041:I188S	I	+	2	0	CTD-2589C9.4;HMBS	118468046	1.000000	0.71417	0.978000	0.43139	0.953000	0.61014	7.045000	0.76585	2.220000	0.72140	0.528000	0.53228	ATC		0.537	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190	Missense_Mutation
ANO2	57101	broad.mit.edu	37	12	5963280	5963280	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr12:5963280G>A	ENST00000356134.5	-	4	621	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	ANO2_ENST00000546188.1_Missense_Mutation_p.R184W|ANO2_ENST00000327087.8_Missense_Mutation_p.R184W	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	188					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCGTGTATCCGGACAAAGATG	0.458																																						uc001qnm.2																			0				ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(550-552)CGG>TGG		anoctamin 2							170.0	173.0	172.0					12																	5963280		1893	4104	5997	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5963280G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.550C>T	12.37:g.5963280G>A	ENSP00000348453:p.Arg184Trp						p.R184W	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			4	622	-			188			Cytoplasmic (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.550C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.060433	0.76074	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.68025	-0.3;-0.3;-0.3	5.15	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.74168	0.3681	L	0.47190	1.495	0.52099	D	0.999948	D	0.89917	1.0	D	0.91635	0.999	T	0.75536	-0.3283	10	0.87932	D	0	.	10.4386	0.44450	0.0:0.0:0.8057:0.1943	.	184	Q9NQ90-3	.	W	184;184;184;188	ENSP00000314048:R184W;ENSP00000348453:R184W;ENSP00000440981:R184W	ENSP00000314048:R184W	R	-	1	2	ANO2	5833541	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.955000	0.63638	2.566000	0.86566	0.650000	0.86243	CGG		0.458	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
LUM	4060	broad.mit.edu	37	12	91497971	91497971	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr12:91497971G>A	ENST00000266718.4	-	3	1442	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	330					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTAGCAACACGTAGACATTCA	0.383																																						uc001tbm.2																			0				central_nervous_system(2)	2						c.(988-990)CGT>TGT		lumican precursor							114.0	108.0	110.0					12																	91497971		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91497971G>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.988C>T	12.37:g.91497971G>A	ENSP00000266718:p.Arg330Cys					LUM_uc001tbn.2_RNA	p.R330C	NM_002345	NP_002336	P51884	LUM_HUMAN			3	1377	-			330					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.988C>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329075	0.81690	.	.	ENSG00000139329	ENST00000266718	T	0.20200	2.09	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	M	0.78456	2.415	0.80722	D	1	D	0.62365	0.991	P	0.52957	0.714	T	0.45026	-0.9289	10	0.66056	D	0.02	-17.5142	18.291	0.90130	0.0:0.0:1.0:0.0	.	330	P51884	LUM_HUMAN	C	330	ENSP00000266718:R330C	ENSP00000266718:R330C	R	-	1	0	LUM	90022102	1.000000	0.71417	0.996000	0.52242	0.648000	0.38561	6.883000	0.75595	2.394000	0.81467	0.585000	0.79938	CGT		0.383	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345	
DAO	1610	broad.mit.edu	37	12	109288048	109288048	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr12:109288048G>A	ENST00000228476.3	+	7	721	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	DAO_ENST00000551281.1_Missense_Mutation_p.E107K	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	173					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	GGTGGCAAGAGAAGGCGCAGA	0.582																																						uc001tnr.3																			0				ovary(1)|skin(1)	2						c.(517-519)GAA>AAA		D-amino-acid oxidase							68.0	52.0	57.0					12																	109288048		2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109288048G>A	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.517G>A	12.37:g.109288048G>A	ENSP00000228476:p.Glu173Lys					DAO_uc001tnq.3_Missense_Mutation_p.E107K|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	p.E173K	NM_001917	NP_001908	P14920	OXDA_HUMAN			7	670	+			173					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.517G>A	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	G	4.307	0.056174	0.08291	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547768;ENST00000547166	T;T;T;T	0.80824	0.94;0.97;0.97;-1.42	5.57	5.57	0.84162	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.680297	0.16268	N	0.221885	T	0.72708	0.3494	L	0.46157	1.445	0.18873	N	0.999985	B;B	0.20780	0.009;0.048	B;B	0.21151	0.013;0.033	T	0.56232	-0.8013	10	0.07644	T	0.81	-8.6155	13.2678	0.60144	0.0:0.2611:0.7389:0.0	.	173;156	P14920;Q7Z312	OXDA_HUMAN;.	K	107;173;50;173	ENSP00000446853:E107K;ENSP00000228476:E173K;ENSP00000449967:E50K;ENSP00000447104:E173K	ENSP00000228476:E173K	E	+	1	0	DAO	107812177	0.956000	0.32656	0.996000	0.52242	0.294000	0.27393	-0.159000	0.10056	2.644000	0.89710	0.549000	0.68633	GAA		0.582	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1		
PCDH9	5101	broad.mit.edu	37	13	67800099	67800099	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr13:67800099A>T	ENST00000377865.2	-	1	2608	c.2474T>A	c.(2473-2475)gTg>gAg	p.V825E	PCDH9_ENST00000328454.5_Missense_Mutation_p.V825E|PCDH9_ENST00000544246.1_Missense_Mutation_p.V825E|PCDH9_ENST00000456367.1_Missense_Mutation_p.V825E|PCDH9_ENST00000377861.3_Missense_Mutation_p.V825E			Q9HC56	PCDH9_HUMAN	protocadherin 9	825					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AACAATGACCACCATGGCACC	0.517																																						uc001vik.2																			0				ovary(4)|pancreas(1)|skin(1)	6						c.(2473-2475)GTG>GAG		protocadherin 9 isoform 1 precursor							214.0	190.0	198.0					13																	67800099		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800099A>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2474T>A	13.37:g.67800099A>T	ENSP00000367096:p.Val825Glu					PCDH9_uc001vil.2_Missense_Mutation_p.V825E|PCDH9_uc010thl.1_Missense_Mutation_p.V825E|PCDH9_uc001vin.3_Missense_Mutation_p.V825E	p.V825E	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3166	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	825			Helical; (Potential).		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.2474T>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.942468	0.53079	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.93	5.93	0.95920	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.40862	0.1134	L	0.29908	0.895	0.80722	D	1	D;P;D;D	0.56035	0.974;0.891;0.968;0.974	P;P;P;P	0.57846	0.777;0.602;0.669;0.828	T	0.27806	-1.0063	10	0.72032	D	0.01	.	16.3797	0.83452	1.0:0.0:0.0:0.0	.	825;825;825;825	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	E	825	ENSP00000442186:V825E;ENSP00000367096:V825E;ENSP00000401699:V825E;ENSP00000332060:V825E;ENSP00000367092:V825E	ENSP00000332060:V825E	V	-	2	0	PCDH9	66698100	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.306000	0.78905	2.271000	0.75665	0.533000	0.62120	GTG		0.517	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
OR4N5	390437	broad.mit.edu	37	14	20612258	20612258	+	Missense_Mutation	SNP	C	C	T	rs202234247		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr14:20612258C>T	ENST00000333629.1	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GGCCTTTGACCGCTACATCGC	0.483																																						uc010tla.1																			0				ovary(1)	1						c.(364-366)CGC>TGC		olfactory receptor, family 4, subfamily N,		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	155.0	152.0	153.0		364	3.1	1.0	14		153	0,8600		0,0,4300	no	missense	OR4N5	NM_001004724.1	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	122/309	20612258	1,13005	2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612258C>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.364C>T	14.37:g.20612258C>T	ENSP00000332110:p.Arg122Cys						p.R122C	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	364	+	all_cancers(95;0.00108)		122			Cytoplasmic (Potential).		Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.364C>T	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150303	0.37923	2.27E-4	0.0	ENSG00000184394	ENST00000333629	T	0.77358	-1.09	4.0	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000439	T	0.76307	0.3969	M	0.87971	2.92	0.49798	D	0.999828	B	0.19331	0.035	B	0.14023	0.01	T	0.74945	-0.3491	10	0.87932	D	0	.	5.1472	0.14991	0.2028:0.6889:0.0:0.1083	.	122	Q8IXE1	OR4N5_HUMAN	C	122	ENSP00000332110:R122C	ENSP00000332110:R122C	R	+	1	0	OR4N5	19682098	0.361000	0.24972	1.000000	0.80357	0.840000	0.47671	0.858000	0.27845	1.022000	0.39626	0.655000	0.94253	CGC		0.483	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1		
CDCA4	55038	broad.mit.edu	37	14	105477589	105477589	+	Silent	SNP	G	G	A	rs534887423		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr14:105477589G>A	ENST00000336219.3	-	2	833	c.678C>T	c.(676-678)tcC>tcT	p.S226S	CDCA4_ENST00000392590.3_Silent_p.S226S	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	226						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CGCCCAGGTCGGACTTGCAGC	0.672													g|||	1	0.000199681	0.0	0.0	5008	,	,		14289	0.0		0.0	False		,,,				2504	0.001					uc001yqa.2																			0				ovary(1)	1						c.(676-678)TCC>TCT		cell division cycle associated 4							22.0	23.0	22.0					14																	105477589		2201	4298	6499	SO:0001819	synonymous_variant	55038					nucleus		g.chr14:105477589G>A	BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.678C>T	14.37:g.105477589G>A						CDCA4_uc001yqb.2_Silent_p.S226S	p.S226S	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)	2	774	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	226					Q8TB18|Q9NWK7	Silent	SNP	ENST00000336219.3	37	c.678C>T	CCDS9996.1																																																																																				0.672	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701	
RYR3	6263	broad.mit.edu	37	15	34130001	34130002	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr15:34130001_34130002insA	ENST00000389232.4	+	89	11890_11891	c.11820_11821insA	c.(11821-11823)aaafs	p.K3941fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.K3936fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3941					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAATTATCTCCAAAAAAGAATT	0.391																																						uc001zhi.2																			0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(11818-11823)TCCAAAfs		ryanodine receptor 3																																				SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130001_34130002insA		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11826dupA	15.37:g.34130007_34130007dupA	ENSP00000373884:p.Lys3941fs					RYR3_uc010bar.2_Frame_Shift_Ins_p.S3935fs	p.S3940fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	11890_11891	+		all_lung(180;7.18e-09)	3940_3941			EF-hand.		O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.11820_11821insA	CCDS45210.1																																																																																				0.391	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
EIF2AK4	440275	broad.mit.edu	37	15	40282488	40282488	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr15:40282488G>A	ENST00000263791.5	+	16	2584	c.2541G>A	c.(2539-2541)cgG>cgA	p.R847R	EIF2AK4_ENST00000382727.2_Silent_p.R819R	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	847	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TGATTCACCGGGATTTGAAGC	0.378																																						uc001zkm.1																			0				lung(2)|stomach(1)|skin(1)	4						c.(2539-2541)CGG>CGA		eukaryotic translation initiation factor 2 alpha							210.0	197.0	201.0					15																	40282488		1834	4095	5929	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40282488G>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2541G>A	15.37:g.40282488G>A						EIF2AK4_uc010bbj.1_Silent_p.R548R|EIF2AK4_uc001zkn.1_5'Flank	p.R847R	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	16	2591	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	847			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.2541G>A	CCDS42016.1																																																																																				0.378	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1		
NEDD4	4734	broad.mit.edu	37	15	56208834	56208834	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr15:56208834C>T	ENST00000508342.1	-	1	495	c.196G>A	c.(196-198)Gtt>Att	p.V66I	NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.V66I|NEDD4_ENST00000506154.1_Missense_Mutation_p.V66I	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	66					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGAGACTGAACGTTTTCCTTT	0.408																																						uc002adj.2																			0				skin(2)|ovary(1)|breast(1)	4						c.(196-198)GTT>ATT		neural precursor cell expressed, developmentally							170.0	153.0	159.0					15																	56208834		2193	4291	6484	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56208834C>T	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.196G>A	15.37:g.56208834C>T	ENSP00000424827:p.Val66Ile					NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Missense_Mutation_p.V66I|NEDD4_uc010ugj.1_Missense_Mutation_p.V66I|NEDD4_uc010bfm.2_Missense_Mutation_p.V66I|NEDD4_uc002adk.2_RNA	p.V66I	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	1	496	-			66					A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.196G>A		.	.	.	.	.	.	.	.	.	.	C	9.940	1.217102	0.22373	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.42513	0.97;0.97;0.97	5.23	-1.34	0.09143	.	0.511438	0.14571	N	0.311457	T	0.25344	0.0616	.	.	.	0.09310	N	1	B;B;B	0.12013	0.005;0.003;0.005	B;B;B	0.06405	0.002;0.001;0.002	T	0.14172	-1.0482	9	0.38643	T	0.18	.	6.5967	0.22677	0.0:0.3408:0.1296:0.5296	.	66;66;66	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	I	66	ENSP00000424827:V66I;ENSP00000345530:V66I;ENSP00000422705:V66I	ENSP00000345530:V66I	V	-	1	0	NEDD4	53996126	0.001000	0.12720	0.000000	0.03702	0.037000	0.13140	-0.809000	0.04510	-0.164000	0.10927	-0.942000	0.02676	GTT		0.408	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	
SCNN1G	6340	broad.mit.edu	37	16	23226531	23226531	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:23226531G>A	ENST00000300061.2	+	13	1834	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	564					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.R564H(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATTGCCCGCCGCCAGTGGCAG	0.587																																						uc002dlm.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1690-1692)CGC>CAC		sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)						92.0	87.0	89.0					16																	23226531		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226531G>A	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1691G>A	16.37:g.23226531G>A	ENSP00000300061:p.Arg564His						p.R564H	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	13	1830	+			564			Cytoplasmic (By similarity).		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.1691G>A	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	5.103	0.204701	0.09704	.	.	ENSG00000166828	ENST00000300061	T	0.73575	-0.76	5.22	-0.291	0.12843	.	0.550372	0.18016	N	0.154418	T	0.48892	0.1525	N	0.08118	0	0.18873	N	0.999981	B	0.11235	0.004	B	0.06405	0.002	T	0.28235	-1.0050	10	0.15499	T	0.54	-39.1964	10.5884	0.45296	0.4739:0.0:0.5261:0.0	.	564	P51170	SCNNG_HUMAN	H	564	ENSP00000300061:R564H	ENSP00000300061:R564H	R	+	2	0	SCNN1G	23134032	0.000000	0.05858	0.161000	0.22692	0.615000	0.37417	-0.164000	0.09983	-0.292000	0.08999	-0.258000	0.10820	CGC		0.587	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039	
CHD9	80205	broad.mit.edu	37	16	53289572	53289572	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:53289572A>G	ENST00000398510.3	+	18	4177	c.4090A>G	c.(4090-4092)Att>Gtt	p.I1364V	CHD9_ENST00000564845.1_Missense_Mutation_p.I1364V|CHD9_ENST00000566029.1_Missense_Mutation_p.I1364V|CHD9_ENST00000447540.1_Missense_Mutation_p.I1364V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1364					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTATGGTGCTATTATGGAGGA	0.348																																						uc002ehb.2																			0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(4090-4092)ATT>GTT		chromodomain helicase DNA binding protein 9							133.0	127.0	129.0					16																	53289572		1864	4120	5984	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53289572A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4090A>G	16.37:g.53289572A>G	ENSP00000381522:p.Ile1364Val					CHD9_uc002egy.2_Missense_Mutation_p.I1364V|CHD9_uc002ehc.2_Missense_Mutation_p.I1364V|CHD9_uc002ehf.2_Missense_Mutation_p.I478V|CHD9_uc002ehd.2_Missense_Mutation_p.I890V	p.I1364V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			18	4254	+		all_cancers(37;0.0212)	1364					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.4090A>G		.	.	.	.	.	.	.	.	.	.	A	17.13	3.309539	0.60414	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.83506	-1.73;-1.73	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000014	T	0.80019	0.4547	L	0.52573	1.65	0.58432	D	0.999999	B;B;P;P	0.42518	0.008;0.189;0.675;0.782	B;B;B;B	0.40165	0.036;0.321;0.145;0.28	T	0.78897	-0.2023	10	0.30854	T	0.27	-16.5135	16.1069	0.81230	1.0:0.0:0.0:0.0	.	890;1364;1364;1364	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	V	1364;1364;890	ENSP00000396345:I1364V;ENSP00000381522:I1364V	ENSP00000219084:I890V	I	+	1	0	CHD9	51847073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.168000	0.64978	2.198000	0.70561	0.528000	0.53228	ATT		0.348	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
CDH16	1014	broad.mit.edu	37	16	66946751	66946751	+	Silent	SNP	G	G	T	rs201292764		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:66946751G>T	ENST00000299752.4	-	10	1291	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	CDH16_ENST00000394055.3_Silent_p.P366P|CDH16_ENST00000565796.1_Silent_p.P366P|CDH16_ENST00000568632.1_Silent_p.P269P|CDH16_ENST00000570262.1_Silent_p.P286P	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	366	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGGGGGAGCCGGGGGCATCTG	0.612																																						uc002eql.2																			0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1096-1098)CCC>CCA		cadherin 16 precursor							59.0	63.0	62.0					16																	66946751		2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66946751G>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1098C>A	16.37:g.66946751G>T						CDH16_uc010cdy.2_Silent_p.P366P|CDH16_uc002eqm.2_Silent_p.P269P	p.P366P	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	10	1171	-		Ovarian(137;0.0563)	366			Extracellular (Potential).|Cadherin 4.		B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.1098C>A	CCDS10823.1																																																																																				0.612	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062	
PLCG2	5336	broad.mit.edu	37	16	81968079	81968079	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:81968079G>A	ENST00000359376.3	+	26	2999	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	929					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CATCGCCATCGAGCTCTCTGA	0.478																																						uc002fgt.2																			0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(2785-2787)GAG>AAG		phospholipase C, gamma 2							84.0	89.0	88.0					16																	81968079		1977	4156	6133	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81968079G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2785G>A	16.37:g.81968079G>A	ENSP00000352336:p.Glu929Lys						p.E929K	NM_002661	NP_002652	P16885	PLCG2_HUMAN			26	2937	+			929					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2785G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	36	5.641923	0.96704	.	.	ENSG00000197943	ENST00000359376	T	0.69175	-0.38	5.29	5.29	0.74685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (1);	0.000000	0.85682	D	0.000000	D	0.86222	0.5881	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.89616	0.3845	10	0.87932	D	0	.	18.9441	0.92615	0.0:0.0:1.0:0.0	.	929	P16885	PLCG2_HUMAN	K	929	ENSP00000352336:E929K	ENSP00000352336:E929K	E	+	1	0	PLCG2	80525580	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.689000	0.98673	2.473000	0.83533	0.561000	0.74099	GAG		0.478	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	byFrequency	TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672													t|||	242	0.0483227	0.1248	0.0202	5008	,	,		19066	0.005		0.0219	False		,,,				2504	0.0368					uc002hvz.2																			1	Substitution - Missense(1)		endometrium(1)		0						c.(151-153)AGG>AAG		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274416		682	1579	2261	SO:0001583	missense	653240					keratin filament		g.chr17:39274416C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.152G>A	17.37:g.39274416C>T	ENSP00000375232:p.Arg51Lys						p.R51K	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	191	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	6.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.152G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.205	0.036712	0.08148	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.47	-1.13	0.09775	.	2.855670	0.02563	U	0.096976	T	0.02610	0.0079	M	0.72118	2.19	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.52283	-0.8596	10	0.05959	T	0.93	.	3.7627	0.08610	0.1684:0.4051:0.0:0.4265	rs408579	51	Q9BYQ6	KR411_HUMAN	K	51	ENSP00000375232:R51K	ENSP00000375232:R51K	R	-	2	0	KRTAP4-11	36527942	0.000000	0.05858	0.002000	0.10522	0.072000	0.16883	-0.738000	0.04871	-0.091000	0.12440	-0.208000	0.12717	AGG		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
AOC4P	90586	broad.mit.edu	37	17	41019767	41019767	+	RNA	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr17:41019767C>T	ENST00000585538.1	+	0	606					NR_002773.1				amine oxidase, copper containing 4, pseudogene																		GACTGTGGAGCGTCATGGAGG	0.612																																						uc002ibw.1																			0					0						c.(472-474)CGT>TGT		Homo sapiens amine oxidase pseudogene mRNA, splice variant HLAO1.																																						90586							g.chr17:41019767C>T			17q21.31	2013-06-19			ENSG00000260105	ENSG00000260105			48869	pseudogene	pseudogene						20013028	Standard	NR_002773		Approved				OTTHUMG00000176596		17.37:g.41019767C>T						LOC90586_uc002ibx.2_5'Flank	p.R158C	NR_002773						1	606	+									Missense_Mutation	SNP	ENST00000585538.1	37	c.472C>T																																																																																					0.612	AOC4P-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000452449.1		
HEXIM2	124790	broad.mit.edu	37	17	43246862	43246862	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr17:43246862C>T	ENST00000307275.3	+	4	983	c.547C>T	c.(547-549)Cga>Tga	p.R183*	RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Nonsense_Mutation_p.R183*|RP13-890H12.2_ENST00000589451.1_RNA|HEXIM2_ENST00000591576.1_Nonsense_Mutation_p.R183*	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	183					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						TGGGCGGGGCCGAGCGCACGG	0.647																																						uc002iih.1																			0					0						c.(547-549)CGA>TGA		hexamthylene bis-acetamide inducible 2							28.0	25.0	26.0					17																	43246862		2202	4300	6502	SO:0001587	stop_gained	124790				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43246862C>T	AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.547C>T	17.37:g.43246862C>T	ENSP00000302276:p.Arg183*					HEXIM2_uc010daf.1_Nonsense_Mutation_p.R205*|HEXIM2_uc002iii.1_Nonsense_Mutation_p.R183*|HEXIM2_uc002iij.1_Nonsense_Mutation_p.R183*|uc002iik.1_RNA	p.R183*	NM_144608	NP_653209	Q96MH2	HEXI2_HUMAN			4	786	+			183					D3DX66	Nonsense_Mutation	SNP	ENST00000307275.3	37	c.547C>T	CCDS11496.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519201	0.64634	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.79	1.37	0.22104	.	1.220890	0.05438	N	0.547098	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	1.5834	1.1155	0.01713	0.3038:0.3723:0.1476:0.1763	.	.	.	.	X	183	.	ENSP00000302276:R183X	R	+	1	2	HEXIM2	40602645	0.000000	0.05858	0.007000	0.13788	0.454000	0.32378	0.585000	0.23879	0.689000	0.31550	0.561000	0.74099	CGA		0.647	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450181.1	NM_144608	
TEX2	55852	broad.mit.edu	37	17	62272375	62272375	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr17:62272375C>A	ENST00000583097.1	-	3	1897	c.1725G>T	c.(1723-1725)gaG>gaT	p.E575D	TEX2_ENST00000258991.3_Missense_Mutation_p.E575D|TEX2_ENST00000584379.1_Missense_Mutation_p.E575D			Q8IWB9	TEX2_HUMAN	testis expressed 2	575					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGGTTCCACCCTCAAGTCGAA	0.423																																						uc002jec.2																			0				ovary(1)	1						c.(1723-1725)GAG>GAT		testis expressed sequence 2							123.0	110.0	115.0					17																	62272375		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62272375C>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1725G>T	17.37:g.62272375C>A	ENSP00000462665:p.Glu575Asp					TEX2_uc002jed.2_Missense_Mutation_p.E575D|TEX2_uc002jee.2_Missense_Mutation_p.E575D	p.E575D	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	3	1898	-			575					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.1725G>T		.	.	.	.	.	.	.	.	.	.	C	13.36	2.213428	0.39102	.	.	ENSG00000136478	ENST00000258991	T	0.52526	0.66	6.07	0.113	0.14631	Pleckstrin homology domain (1);	0.106321	0.64402	D	0.000004	T	0.39989	0.1099	L	0.46157	1.445	0.53005	D	0.999964	P;B	0.43352	0.804;0.32	P;B	0.45119	0.47;0.194	T	0.11665	-1.0578	10	0.31617	T	0.26	-23.2703	8.2416	0.31662	0.0:0.3302:0.0:0.6698	.	575;575	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	D	575	ENSP00000258991:E575D	ENSP00000258991:E575D	E	-	3	2	TEX2	59626107	0.999000	0.42202	0.999000	0.59377	0.984000	0.73092	0.652000	0.24888	0.149000	0.19098	-0.140000	0.14226	GAG		0.423	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469	
MUC16	94025	broad.mit.edu	37	19	9085127	9085127	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:9085127A>G	ENST00000397910.4	-	1	6891	c.6688T>C	c.(6688-6690)Tcc>Ccc	p.S2230P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2230	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTACTGTGGACAAGCCAGGT	0.488																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6688-6690)TCC>CCC		mucin 16							111.0	107.0	108.0					19																	9085127		1984	4176	6160	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085127A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6688T>C	19.37:g.9085127A>G	ENSP00000381008:p.Ser2230Pro						p.S2230P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6892	-			2230			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6688T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	6.899	0.535476	0.13188	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.225	0.225	0.15325	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	.	.	.	P	0.51449	0.945	P	0.57425	0.82	T	0.45760	-0.9239	7	0.87932	D	0	.	.	.	.	.	2230	B5ME49	.	P	2230	ENSP00000381008:S2230P	ENSP00000381008:S2230P	S	-	1	0	MUC16	8946127	0.929000	0.31497	0.486000	0.27416	0.539000	0.34962	0.349000	0.20055	0.257000	0.21650	0.254000	0.18369	TCC		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
OR7G2	390882	broad.mit.edu	37	19	9213088	9213088	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:9213088A>T	ENST00000305456.2	-	1	894	c.895T>A	c.(895-897)Tat>Aat	p.Y299N		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	278						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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AACACAGAATACATCACTGAA	0.453																																					Esophageal Squamous(67;143 1448 28637 40648)	uc010xkk.1																			0				skin(1)	1						c.(895-897)TAT>AAT		olfactory receptor, family 7, subfamily G,							123.0	108.0	113.0					19																	9213088		2203	4300	6503	SO:0001583	missense	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213088A>T		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.895T>A	19.37:g.9213088A>T	ENSP00000303822:p.Tyr299Asn						p.Y299N	NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN			1	895	-			278			Helical; Name=7; (Potential).		Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	c.895T>A	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	a	16.82	3.228347	0.58777	.	.	ENSG00000170923	ENST00000305456	T	0.00321	8.11	3.14	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34223	U	0.004143	T	0.00875	0.0029	M	0.93978	3.48	0.33641	D	0.607277	D	0.89917	1.0	D	0.97110	1.0	T	0.27157	-1.0082	10	0.87932	D	0	.	11.3084	0.49349	1.0:0.0:0.0:0.0	.	278	Q8NG99	OR7G2_HUMAN	N	299	ENSP00000303822:Y299N	ENSP00000303822:Y299N	Y	-	1	0	OR7G2	9074088	0.776000	0.28616	0.868000	0.34077	0.096000	0.18686	5.151000	0.64875	1.718000	0.51419	0.367000	0.22151	TAT		0.453	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1		
ZNF563	147837	broad.mit.edu	37	19	12430217	12430217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:12430217delA	ENST00000293725.5	-	4	827	c.622delT	c.(622-624)tggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					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(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACTGGGCCAAAAAAAAGCT	0.393																																					GBM(39;623 795 5132 29510 31476)	uc002mtp.2																			0					0						c.(622-624)TGGfs		zinc finger protein 563							124.0	126.0	126.0					19																	12430217		2203	4300	6503	SO:0001589	frameshift_variant	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430217delA	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.622delT	19.37:g.12430217delA	ENSP00000293725:p.Trp208fs					ZNF563_uc002mtq.2_Intron	p.W208fs	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN			4	860	-			208			C2H2-type 3.		B2R9E7|Q8NAT7	Frame_Shift_Del	DEL	ENST00000293725.5	37	c.622delT	CCDS12270.1																																																																																				0.393	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276	
PKN1	5585	broad.mit.edu	37	19	14574778	14574778	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:14574778C>T	ENST00000242783.6	+	11	1799	c.1634C>T	c.(1633-1635)aCg>aTg	p.T545M	PKN1_ENST00000342216.4_Missense_Mutation_p.T551M	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	545					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCCCGGACCACGGGGTAAGGA	0.672																																					NSCLC(185;2539 2965 10733 52867)	uc002myp.2																			0				ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1633-1635)ACG>ATG		protein kinase N1 isoform 2							28.0	33.0	31.0					19																	14574778		2037	4188	6225	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14574778C>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1634C>T	19.37:g.14574778C>T	ENSP00000242783:p.Thr545Met					PKN1_uc002myq.2_Missense_Mutation_p.T551M	p.T545M	NM_002741	NP_002732	Q16512	PKN1_HUMAN			11	1802	+			545					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1634C>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	2.831	-0.242646	0.05906	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.29655	1.56;1.56	3.9	0.0614	0.14340	.	0.411490	0.22040	U	0.065467	T	0.20455	0.0492	L	0.40543	1.245	0.09310	N	1	B;B	0.15719	0.014;0.008	B;B	0.06405	0.002;0.001	T	0.14504	-1.0470	10	0.51188	T	0.08	-36.0628	6.0351	0.19702	0.0:0.6025:0.0:0.3975	.	551;545	Q16512-2;Q16512	.;PKN1_HUMAN	M	545;551	ENSP00000242783:T545M;ENSP00000343325:T551M	ENSP00000242783:T545M	T	+	2	0	PKN1	14435778	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.238000	0.18004	-0.064000	0.13043	0.484000	0.47621	ACG		0.672	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560	
TMEM59L	25789	broad.mit.edu	37	19	18731283	18731283	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:18731283G>A	ENST00000600490.1	+	9	1151	c.966G>A	c.(964-966)ccG>ccA	p.P322P	TMEM59L_ENST00000262817.3_Silent_p.P322P			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	322						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						ACCCGCCGCCGTCCCACGCCT	0.642																																						uc002njy.3																			0				ovary(2)|skin(2)	4						c.(964-966)CCG>CCA		brain-specific membrane-anchored protein							76.0	69.0	71.0					19																	18731283		2203	4300	6503	SO:0001819	synonymous_variant	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18731283G>A	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.966G>A	19.37:g.18731283G>A							p.P322P	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN			8	1053	+			322						Silent	SNP	ENST00000600490.1	37	c.966G>A	CCDS12383.1																																																																																				0.642	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2		
ZNF135	7694	broad.mit.edu	37	19	58579144	58579144	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:58579144T>G	ENST00000313434.5	+	5	1393	c.1292T>G	c.(1291-1293)aTt>aGt	p.I431S	ZNF135_ENST00000511556.1_Missense_Mutation_p.I443S|ZNF135_ENST00000401053.4_Missense_Mutation_p.I455S|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.I431S|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000506786.1_Missense_Mutation_p.I389S	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	431					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CATCGGAGGATTCACACAGGA	0.547																																						uc010yhq.1																			0				ovary(1)	1						c.(1327-1329)ATT>AGT		zinc finger protein 135 isoform 2							73.0	72.0	72.0					19																	58579144		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579144T>G	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1292T>G	19.37:g.58579144T>G	ENSP00000321406:p.Ile431Ser					ZNF135_uc002qre.2_Missense_Mutation_p.I431S|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.I389S|ZNF135_uc002qrg.2_Missense_Mutation_p.I401S|ZNF135_uc010yhr.1_Missense_Mutation_p.I252S	p.I443S	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1424	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	443					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.1328T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.427|9.427	1.084436|1.084436	0.20309|0.20309	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000391699|ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.|T;T;T;T;T	.|0.00659	.|5.94;5.94;5.94;5.94;5.94	3.1|3.1	3.1|3.1	0.35709|0.35709	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.01765|0.01765	0.0056|0.0056	L|L	0.28776|0.28776	0.89|0.89	0.26016|0.26016	N|N	0.981928|0.981928	.|P;D	.|0.63880	.|0.875;0.993	.|P;D	.|0.70227	.|0.591;0.968	T|T	0.54029|0.54029	-0.8354|-0.8354	5|9	.|0.72032	.|D	.|0.01	.|.	6.485|6.485	0.22083|0.22083	0.0:0.1241:0.0:0.8759|0.0:0.1241:0.0:0.8759	.|.	.|443;431	.|E9PEV2;P52742	.|.;ZN135_HUMAN	V|S	449|455;431;431;443;389	.|ENSP00000441410:I455S;ENSP00000444828:I431S;ENSP00000321406:I431S;ENSP00000422074:I443S;ENSP00000427691:I389S	.|ENSP00000321406:I431S	F|I	+|+	1|2	0|0	ZNF135|ZNF135	63270956|63270956	0.000000|0.000000	0.05858|0.05858	0.956000|0.956000	0.39512|0.39512	0.031000|0.031000	0.12232|0.12232	0.340000|0.340000	0.19892|0.19892	1.417000|1.417000	0.47077|0.47077	0.455000|0.455000	0.32223|0.32223	TTC|ATT		0.547	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436	
AL133247.2	0	broad.mit.edu	37	2	31756490	31756490	+	RNA	SNP	T	T	C			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr2:31756490T>C	ENST00000435713.1	+	0	255				SRD5A2_ENST00000405650.1_RNA																							GCTGGCGCAATATATAGTCAC	0.433																																						uc002rnw.1																			0					0						c.(496-498)ATA>ATG		3-oxo-5 alpha-steroid 4-dehydrogenase 2	Azelaic Acid(DB00548)|Dutasteride(DB01126)						52.0	55.0	54.0					2																	31756490		1872	4104	5976			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31756490T>C																													2.37:g.31756490T>C							p.I166M	NM_000348	NP_000339	P31213	S5A2_HUMAN			4	569	-	Acute lymphoblastic leukemia(172;0.155)		166			Helical; (Potential).			Missense_Mutation	SNP	ENST00000435713.1	37	c.498A>G																																																																																					0.433	AL133247.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000325125.1		
TTN	7273	broad.mit.edu	37	2	179452825	179452825	+	Missense_Mutation	SNP	C	C	A	rs538999642		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr2:179452825C>A	ENST00000591111.1	-	255	58610	c.58386G>T	c.(58384-58386)atG>atT	p.M19462I	TTN_ENST00000589042.1_Missense_Mutation_p.M21103I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M12163I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M12230I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M12038I|TTN_ENST00000342992.6_Missense_Mutation_p.M18535I			Q8WZ42	TITIN_HUMAN	titin	19462	Fibronectin type-III 41. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTGGTCTCATTTCCACAA	0.453																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(55603-55605)ATG>ATT		titin isoform N2-A							97.0	93.0	94.0					2																	179452825		1989	4163	6152	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179452825C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58386G>T	2.37:g.179452825C>A	ENSP00000465570:p.Met19462Ile					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M12230I|TTN_uc010zfi.1_Missense_Mutation_p.M12163I|TTN_uc010zfj.1_Missense_Mutation_p.M12038I	p.M18535I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		254	55829	-			19462					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.55605G>T		.	.	.	.	.	.	.	.	.	.	C	12.36	1.913389	0.33815	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	6.05	5.17	0.71159	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40815	0.1132	L	0.27944	0.81	0.52501	D	0.999952	B;B;B;B	0.11235	0.0;0.0;0.0;0.004	B;B;B;B	0.12156	0.001;0.001;0.003;0.007	T	0.31052	-0.9957	9	0.87932	D	0	.	11.3558	0.49615	0.127:0.807:0.0:0.066	.	12038;12163;12230;19462	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	18535;12038;12230;12163;12036	ENSP00000343764:M18535I;ENSP00000434586:M12038I;ENSP00000340554:M12230I;ENSP00000352154:M12163I	ENSP00000340554:M12230I	M	-	3	0	TTN	179161071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.300000	0.33436	1.565000	0.49641	0.650000	0.86243	ATG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ABCG1	9619	broad.mit.edu	37	21	43708133	43708133	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr21:43708133C>T	ENST00000361802.2	+	9	1253	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	ABCG1_ENST00000398437.1_Missense_Mutation_p.R516W|ABCG1_ENST00000347800.2_Missense_Mutation_p.R367W|ABCG1_ENST00000398449.3_Missense_Mutation_p.R370W|ABCG1_ENST00000398457.2_Missense_Mutation_p.R372W|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Missense_Mutation_p.R478W|ABCG1_ENST00000343687.3_Missense_Mutation_p.R381W	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	370					amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCTTTGGCACCGGCCCTCTGA	0.577																																						uc002zaq.2																			0				ovary(2)|central_nervous_system(1)	3						c.(1108-1110)CGG>TGG		ATP-binding cassette sub-family G member 1	Adenosine triphosphate(DB00171)						135.0	139.0	138.0					21																	43708133		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43708133C>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1108C>T	21.37:g.43708133C>T	ENSP00000354995:p.Arg370Trp					ABCG1_uc002zan.2_Missense_Mutation_p.R372W|ABCG1_uc002zam.2_Missense_Mutation_p.R348W|ABCG1_uc002zao.2_Missense_Mutation_p.R367W|ABCG1_uc002zap.2_Missense_Mutation_p.R370W|ABCG1_uc002zar.2_Missense_Mutation_p.R381W|ABCG1_uc011aev.1_Missense_Mutation_p.R381W|ABCG1_uc010gpb.1_5'UTR	p.R370W	NM_004915	NP_004906	P45844	ABCG1_HUMAN			9	1214	+			370			Cytoplasmic (Potential).		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1108C>T	CCDS13682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.22|15.22	2.768977|2.768977	0.49680|0.49680	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161|ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	.|D;D;D;D;D;D;D	.|0.86956	.|-2.11;-2.11;-2.11;-2.03;-2.11;-2.19;-2.17	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	.|0.254163	.|0.36066	.|N	.|0.002815	T|T	0.77890|0.77890	0.4198|0.4198	N|N	0.08118|0.08118	0|0	0.52099|0.52099	D|D	0.999946|0.999946	.|P;P;D;D;D;D	.|0.69078	.|0.628;0.883;0.96;0.963;0.997;0.994	.|B;B;B;B;P;B	.|0.49047	.|0.241;0.176;0.16;0.319;0.599;0.432	T|T	0.76908|0.76908	-0.2785|-0.2785	5|9	.|.	.|.	.|.	-15.238|-15.238	11.273|11.273	0.49150|0.49150	0.3204:0.6796:0.0:0.0|0.3204:0.6796:0.0:0.0	.|.	.|381;381;370;370;367;372	.|B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.|.;.;ABCG1_HUMAN;.;.;.	L|W	105|372;367;370;370;381;516;478	.|ENSP00000381475:R372W;ENSP00000291524:R367W;ENSP00000381467:R370W;ENSP00000354995:R370W;ENSP00000339744:R381W;ENSP00000381464:R516W;ENSP00000343820:R478W	.|.	P|R	+|+	2|1	0|2	ABCG1|ABCG1	42581202|42581202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.243000|1.243000	0.32767|0.32767	2.050000|2.050000	0.60909|0.60909	0.467000|0.467000	0.42956|0.42956	CCG|CGG		0.577	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174	
KRTAP10-6	386674	broad.mit.edu	37	21	46011400	46011400	+	Silent	SNP	G	G	A	rs371252868		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr21:46011400G>A	ENST00000400368.1	-	1	986	c.966C>T	c.(964-966)tcC>tcT	p.S322S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	322	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S322S(5)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGCACCACAGGAGGGGACGG	0.692																																						uc002zfm.2																			5	Substitution - coding silent(5)		endometrium(3)|urinary_tract(1)|prostate(1)		0						c.(964-966)TCC>TCT		keratin associated protein 10-6							66.0	81.0	76.0					21																	46011400		2201	4300	6501	SO:0001819	synonymous_variant	386674					keratin filament		g.chr21:46011400G>A	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.966C>T	21.37:g.46011400G>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S322S	NM_198688	NP_941961	P60371	KR106_HUMAN			1	987	-			322			29 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000400368.1	37	c.966C>T	CCDS42959.1																																																																																				0.692	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688	
PI4KAP2	375133	broad.mit.edu	37	22	21829507	21829507	+	RNA	SNP	G	G	A	rs140118179		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr22:21829507G>A	ENST00000450651.1	-	0	1831							A4QPH2	PI4P2_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(3)|urinary_tract(1)	4						TACTTCAAGAGCTTGATTGTC	0.542																																						uc002zuv.3																			0					0						c.(1636-1638)CTC>TTC		SubName: Full=Putative uncharacterized protein PI4KA;							22.0	17.0	18.0					22																	21829507		676	1519	2195			375133							g.chr22:21829507G>A			22q11.21	2014-03-20	2007-08-14		ENSG00000183506	ENSG00000183506			33577	pseudogene	pseudogene							Standard	NR_003700		Approved		uc011aie.1	A4QPH2	OTTHUMG00000150827		22.37:g.21829507G>A						PI4KAP2_uc002zuw.2_Intron|PI4KAP2_uc011aid.1_Intron	p.L546F							14	3895	-								Q6ICJ0|Q6ZT68|Q8WUK7	Missense_Mutation	SNP	ENST00000450651.1	37	c.1636C>T																																																																																					0.542	PI4KAP2-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334908.1		
SREBF2	6721	broad.mit.edu	37	22	42276831	42276831	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr22:42276831C>T	ENST00000361204.4	+	10	2039	c.1873C>T	c.(1873-1875)Cgc>Tgc	p.R625C		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	625					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GAACGTGATCCGCTACAGCCT	0.647																																						uc003bbi.2																			0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(1873-1875)CGC>TGC		sterol regulatory element-binding transcription							40.0	41.0	41.0					22																	42276831		2202	4298	6500	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42276831C>T	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1873C>T	22.37:g.42276831C>T	ENSP00000354476:p.Arg625Cys					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	p.R625C	NM_004599	NP_004590	Q12772	SRBP2_HUMAN			10	2042	+			625			Cytoplasmic (Potential).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.1873C>T	CCDS14023.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.166684|5.166684	0.94768|0.94768	.|.	.|.	ENSG00000198911|ENSG00000198911	ENST00000444813|ENST00000361204;ENST00000457567	.|T	.|0.35605	.|1.3	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64204|0.64204	0.2577|0.2577	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.70400|0.70400	-0.4882|-0.4882	6|10	0.87932|0.87932	D|D	0|0	-18.6595|-18.6595	18.1685|18.1685	0.89736|0.89736	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|625	.|Q12772	.|SRBP2_HUMAN	L|C	658|625	.|ENSP00000354476:R625C	ENSP00000395728:P658L|ENSP00000354476:R625C	P|R	+|+	2|1	0|0	SREBF2|SREBF2	40606777|40606777	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.959000|5.959000	0.70339|0.70339	2.292000|2.292000	0.77174|0.77174	0.478000|0.478000	0.44815|0.44815	CCG|CGC		0.647	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599	
CNTN4	152330	broad.mit.edu	37	3	3078881	3078881	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr3:3078881G>T	ENST00000397461.1	+	17	2345	c.1961G>T	c.(1960-1962)gGg>gTg	p.G654V	CNTN4_ENST00000418658.1_Missense_Mutation_p.G654V|CNTN4_ENST00000358480.3_Missense_Mutation_p.G435V|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.G654V|CNTN4_ENST00000397459.2_Missense_Mutation_p.G326V|CNTN4_ENST00000448906.2_Missense_Mutation_p.G326V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	654	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTCATTGATGGGAAGACATTC	0.483																																						uc003bpc.2																			0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(1960-1962)GGG>GTG		contactin 4 isoform a precursor							136.0	136.0	136.0					3																	3078881		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3078881G>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1961G>T	3.37:g.3078881G>T	ENSP00000380602:p.Gly654Val					CNTN4_uc003bpb.1_Missense_Mutation_p.G325V|CNTN4_uc003bpd.1_Missense_Mutation_p.G654V|CNTN4_uc003bpe.2_Missense_Mutation_p.G326V|CNTN4_uc003bpf.2_Missense_Mutation_p.G325V|CNTN4_uc003bpg.2_5'Flank	p.G654V	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	17	2182	+		Ovarian(110;0.156)	654			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1961G>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.758061	0.89843	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81418	0.4818	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	D	0.83588	0.0121	10	0.49607	T	0.09	.	19.387	0.94560	0.0:0.0:1.0:0.0	.	653;654;654	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	V	654;654;654;435;326;326	ENSP00000396010:G654V;ENSP00000380602:G654V;ENSP00000413642:G654V;ENSP00000351267:G435V;ENSP00000380600:G326V;ENSP00000392077:G326V	ENSP00000351267:G435V	G	+	2	0	CNTN4	3053881	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.640000	0.98453	2.572000	0.86782	0.655000	0.94253	GGG		0.483	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
ABCC5	10057	broad.mit.edu	37	3	183665250	183665250	+	Silent	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr3:183665250C>T	ENST00000334444.6	-	23	3516	c.3276G>A	c.(3274-3276)acG>acA	p.T1092T	ABCC5_ENST00000265586.6_Silent_p.T1049T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1092	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GCATCGCACACGTAAACAAAA	0.532																																						uc003fmg.2																			0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3274-3276)ACG>ACA		ATP-binding cassette, sub-family C, member 5							52.0	63.0	59.0					3																	183665250		2007	4178	6185	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183665250C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3276G>A	3.37:g.183665250C>T						ABCC5_uc011bqt.1_Silent_p.T620T|ABCC5_uc010hxl.2_Silent_p.T1049T	p.T1092T	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		23	3441	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1092			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.3276G>A	CCDS43176.1																																																																																				0.532	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688	
ADRA2C	152	broad.mit.edu	37	4	3768581	3768581	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:3768581G>A	ENST00000330055.5	+	1	457	c.248G>A	c.(247-249)cGc>cAc	p.R83H	ADRA2C_ENST00000509482.1_Missense_Mutation_p.R83H	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	83					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGGGCGCTGCGCGCGCCACAG	0.677																																					Esophageal Squamous(12;454 628 4517 14479)	uc003ghm.2																			0					0						c.(247-249)CGC>CAC		alpha-2C-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						25.0	27.0	26.0					4																	3768581		2191	4296	6487	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768581G>A	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.248G>A	4.37:g.3768581G>A	ENSP00000386069:p.Arg83His					ADRA2C_uc010icx.2_Missense_Mutation_p.R83H	p.R83H	NM_000683	NP_000674	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	286	+			83			Cytoplasmic (By similarity).		P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.248G>A	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	g	17.59	3.428312	0.62844	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.38560	1.13;1.13	3.16	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.49881	0.1583	L	0.41356	1.27	0.33183	D	0.549749	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	T	0.59247	-0.7490	9	0.87932	D	0	.	6.5501	0.22429	0.2588:0.0:0.7412:0.0	.	83;83	D6RGL0;P18825	.;ADA2C_HUMAN	H	83	ENSP00000426268:R83H;ENSP00000386069:R83H	ENSP00000386069:R83H	R	+	2	0	ADRA2C	3738379	0.861000	0.29849	1.000000	0.80357	0.990000	0.78478	1.974000	0.40559	1.596000	0.50062	0.457000	0.33378	CGC		0.677	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683	
UGT2B28	54490	broad.mit.edu	37	4	70148376	70148376	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:70148376C>A	ENST00000335568.5	+	2	868	c.866C>A	c.(865-867)cCt>cAt	p.P289H	UGT2B28_ENST00000511240.1_Missense_Mutation_p.P289H	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	289					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAACCCCTACCTAAGGTAAAC	0.383																																						uc003hej.2																			0				skin(1)	1						c.(865-867)CCT>CAT		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						103.0	127.0	119.0					4																	70148376		2027	4232	6259	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70148376C>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.866C>A	4.37:g.70148376C>A	ENSP00000334276:p.Pro289His					UGT2B28_uc010ihr.2_Missense_Mutation_p.P289H	p.P289H	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			2	868	+			289					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.866C>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	12.86	2.064521	0.36470	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.66815	-0.23;-0.23	2.18	2.18	0.27775	.	0.075448	0.53938	U	0.000051	D	0.85961	0.5819	H	0.97682	4.055	0.32286	N	0.566911	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.985	D	0.88058	0.2792	10	0.87932	D	0	.	10.0404	0.42155	0.0:1.0:0.0:0.0	.	289;289	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	H	289	ENSP00000334276:P289H;ENSP00000427399:P289H	ENSP00000334276:P289H	P	+	2	0	UGT2B28	70182965	1.000000	0.71417	0.934000	0.37439	0.321000	0.28281	4.909000	0.63314	1.229000	0.43630	0.184000	0.17185	CCT		0.383	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039	
FGB	2244	broad.mit.edu	37	4	155490927	155490927	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:155490927C>T	ENST00000302068.4	+	7	1283	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	FGB_ENST00000509493.1_Missense_Mutation_p.T188M|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	407	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTCTTCAGCACGTATGACAGA	0.423																																					NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.3																			0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1219-1221)ACG>ATG		fibrinogen, beta chain preproprotein	Sucralfate(DB00364)						155.0	131.0	139.0					4																	155490927		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490927C>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1220C>T	4.37:g.155490927C>T	ENSP00000306099:p.Thr407Met					FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Missense_Mutation_p.T345M|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.T188M	p.T407M	NM_005141	NP_005132	P02675	FIBB_HUMAN			7	1259	+	all_hematologic(180;0.215)	Renal(120;0.0458)	407			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.1220C>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542898	0.86022	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	D;D	0.91237	-2.81;-2.81	5.73	5.73	0.89815	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.97711	0.9249	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98559	1.0640	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	390;407	B4E1D3;P02675	.;FIBB_HUMAN	M	407;390;188	ENSP00000306099:T407M;ENSP00000426757:T188M	ENSP00000306099:T407M	T	+	2	0	FGB	155710377	1.000000	0.71417	0.970000	0.41538	0.611000	0.37282	7.744000	0.85034	2.861000	0.98227	0.655000	0.94253	ACG		0.423	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141	
GRIA2	2891	broad.mit.edu	37	4	158234012	158234012	+	Silent	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:158234012C>T	ENST00000264426.9	+	4	930	c.651C>T	c.(649-651)aaC>aaT	p.N217N	GRIA2_ENST00000449365.1_Silent_p.N170N|GRIA2_ENST00000507898.1_Silent_p.N170N|GRIA2_ENST00000296526.7_Silent_p.N217N|GRIA2_ENST00000393815.2_Silent_p.N170N	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	217					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.N217N(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATAAAGTAAACGACATTGTAG	0.373																																						uc003ipm.3																			1	Substitution - coding silent(1)	p.N217N(1)	central_nervous_system(1)	central_nervous_system(3)|ovary(1)	4						c.(649-651)AAC>AAT		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						103.0	107.0	106.0					4																	158234012		2203	4300	6503	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158234012C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.651C>T	4.37:g.158234012C>T						GRIA2_uc011cit.1_Silent_p.N170N|GRIA2_uc003ipl.3_Silent_p.N217N|GRIA2_uc003ipk.3_Silent_p.N170N|GRIA2_uc010iqh.1_RNA	p.N217N	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	4	1110	+	all_hematologic(180;0.24)	Renal(120;0.0458)	217			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.651C>T	CCDS43274.1																																																																																				0.373	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
RAPGEF2	9693	broad.mit.edu	37	4	160251077	160251077	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:160251077T>G	ENST00000264431.4	+	6	1153	c.734T>G	c.(733-735)gTt>gGt	p.V245G		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	245					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATGCAAAAAGTTGAAGAGGAA	0.398																																						uc003iqg.3																			0				lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(733-735)GTT>GGT		Rap guanine nucleotide exchange factor 2							136.0	123.0	127.0					4																	160251077		1892	4134	6026	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160251077T>G	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.734T>G	4.37:g.160251077T>G	ENSP00000264431:p.Val245Gly						p.V245G	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	6	1044	+	all_hematologic(180;0.24)		245			cNMP.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.734T>G	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.909880	0.92107	.	.	ENSG00000109756	ENST00000264431	T	0.32023	1.47	5.73	5.73	0.89815	Ras guanine nucleotide exchange factor, domain (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.65975	2.015	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.56001	-0.8051	10	0.72032	D	0.01	.	16.3197	0.82945	0.0:0.0:0.0:1.0	.	245	Q9Y4G8	RPGF2_HUMAN	G	245	ENSP00000264431:V245G	ENSP00000264431:V245G	V	+	2	0	RAPGEF2	160470527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.302000	0.77476	0.533000	0.62120	GTT		0.398	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247	
SORBS2	8470	broad.mit.edu	37	4	186545050	186545050	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:186545050G>A	ENST00000284776.7	-	13	2030	c.1521C>T	c.(1519-1521)ccC>ccT	p.P507P	SORBS2_ENST00000418609.1_Silent_p.P411P|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Silent_p.P607P|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000431808.1_Silent_p.P507P	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	507					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGATGCGTGTGGGCACCATGT	0.572																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2																			0				ovary(1)	1						c.(1519-1521)CCC>CCT		sorbin and SH3 domain containing 2 isoform 2							102.0	92.0	95.0					4																	186545050		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545050G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1521C>T	4.37:g.186545050G>A						SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.P607P|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.P411P|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.P621P|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.P507P	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	2379	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	507					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1521C>T	CCDS3845.1																																																																																				0.572	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603	
DNAH5	1767	broad.mit.edu	37	5	13916467	13916467	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr5:13916467A>G	ENST00000265104.4	-	9	1291	c.1187T>C	c.(1186-1188)cTg>cCg	p.L396P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	396	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTACAAACAGAGATGTGAT	0.323									Kartagener syndrome																													uc003jfd.2																			0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(1186-1188)CTG>CCG		dynein, axonemal, heavy chain 5							82.0	83.0	83.0					5																	13916467		2201	4290	6491	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13916467A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1187T>C	5.37:g.13916467A>G	ENSP00000265104:p.Leu396Pro					DNAH5_uc003jfe.1_RNA	p.L396P	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			9	1229	-	Lung NSC(4;0.00476)		396			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.1187T>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060382	0.76074	.	.	ENSG00000039139	ENST00000265104	T	0.75477	-0.94	5.04	5.04	0.67666	Dynein heavy chain, domain-1 (1);	0.000000	0.64402	D	0.000002	D	0.89079	0.6613	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91836	0.5479	10	0.87932	D	0	.	15.0865	0.72158	1.0:0.0:0.0:0.0	.	396	Q8TE73	DYH5_HUMAN	P	396	ENSP00000265104:L396P	ENSP00000265104:L396P	L	-	2	0	DNAH5	13969467	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	9.071000	0.93980	2.017000	0.59298	0.528000	0.53228	CTG		0.323	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
MROH2B	133558	broad.mit.edu	37	5	41049516	41049516	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr5:41049516G>T	ENST00000399564.4	-	14	1817	c.1367C>A	c.(1366-1368)aCt>aAt	p.T456N	MROH2B_ENST00000506092.2_Missense_Mutation_p.T11N	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	456								p.T456N(2)									TACCACAAAAGTCAGGATCCT	0.458																																						uc003jmj.3																			2	Substitution - Missense(2)	p.T456N(1)	ovary(1)|large_intestine(1)	ovary(6)|central_nervous_system(2)	8						c.(1366-1368)ACT>AAT		HEAT repeat family member 7B2							63.0	59.0	60.0					5																	41049516		1898	4125	6023	SO:0001583	missense	133558						binding	g.chr5:41049516G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1367C>A	5.37:g.41049516G>T	ENSP00000382476:p.Thr456Asn					HEATR7B2_uc003jmi.3_Missense_Mutation_p.T11N	p.T456N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			14	1857	-			456					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1367C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174440	0.38413	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66995	3.19;-0.24	5.7	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.46758	D	0.000276	T	0.72542	0.3473	L	0.54323	1.7	0.33885	D	0.636657	D	0.76494	0.999	D	0.69479	0.964	T	0.73033	-0.4110	10	0.18710	T	0.47	.	9.6167	0.39696	0.0921:0.0:0.9079:0.0	.	456	Q7Z745	HTRB2_HUMAN	N	11;160;456	ENSP00000441504:T11N;ENSP00000382476:T456N	ENSP00000296803:T160N	T	-	2	0	HEATR7B2	41085273	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.269000	0.33074	2.705000	0.92388	0.650000	0.86243	ACT		0.458	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
OR2Y1	134083	broad.mit.edu	37	5	180166818	180166818	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr5:180166818G>A	ENST00000307832.2	-	1	281	c.241C>T	c.(241-243)Ctc>Ttc	p.L81F		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGATCAGGAGCTGGGGCACG	0.587																																						uc003mmf.1																			0				central_nervous_system(1)	1						c.(241-243)CTC>TTC		olfactory receptor, family 2, subfamily Y,							75.0	70.0	72.0					5																	180166818		2203	4300	6503	SO:0001583	missense	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166818G>A	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.241C>T	5.37:g.180166818G>A	ENSP00000312403:p.Leu81Phe						p.L81F	NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	241	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	81			Extracellular (Potential).		B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	c.241C>T	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	g	10.51	1.371298	0.24771	.	.	ENSG00000174339	ENST00000307832	T	0.03468	3.92	4.41	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.696719	0.12410	N	0.471302	T	0.14743	0.0356	M	0.65975	2.015	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06197	-1.0840	10	0.56958	D	0.05	.	10.4572	0.44557	0.0:0.0:0.4858:0.5142	.	81	Q8NGV0	OR2Y1_HUMAN	F	81	ENSP00000312403:L81F	ENSP00000312403:L81F	L	-	1	0	OR2Y1	180099424	0.062000	0.20869	0.717000	0.30585	0.004000	0.04260	0.236000	0.17967	0.563000	0.29222	-0.428000	0.05917	CTC		0.587	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682	
SNRNP48	154007	broad.mit.edu	37	6	7602909	7602909	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr6:7602909G>T	ENST00000342415.5	+	6	708	c.649G>T	c.(649-651)Gat>Tat	p.D217Y		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	217					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGAAGTACGAGATTATAAAAG	0.308																																						uc003mxr.2																			0					0						c.(649-651)GAT>TAT		U11/U12 snRNP 48K							69.0	74.0	73.0					6																	7602909		2203	4300	6503	SO:0001583	missense	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7602909G>T	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.649G>T	6.37:g.7602909G>T	ENSP00000339834:p.Asp217Tyr					SNRNP48_uc003mxs.2_RNA|SNRNP48_uc003mxt.1_5'UTR	p.D217Y	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN			6	708	+			217					A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.649G>T	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225976	0.79576	.	.	ENSG00000168566	ENST00000342415	T	0.61980	0.06	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	M	0.83223	2.63	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.80712	-0.1260	10	0.87932	D	0	-22.6992	15.1567	0.72749	0.0:0.0:1.0:0.0	.	217	Q6IEG0	SNR48_HUMAN	Y	217	ENSP00000339834:D217Y	ENSP00000339834:D217Y	D	+	1	0	SNRNP48	7547908	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.780000	0.91799	2.419000	0.82065	0.563000	0.77884	GAT		0.308	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551	
LGSN	51557	broad.mit.edu	37	6	63990671	63990671	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr6:63990671C>T	ENST00000370657.4	-	4	818	c.785G>A	c.(784-786)aGg>aAg	p.R262K	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	262					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGACCAGGCCTGGTAGAGGA	0.433																																						uc003peh.2																			0				skin(2)	2						c.(784-786)AGG>AAG		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						46.0	41.0	42.0					6																	63990671		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990671C>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.785G>A	6.37:g.63990671C>T	ENSP00000359691:p.Arg262Lys					LGSN_uc003pei.2_Intron	p.R262K	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	819	-			262					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.785G>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448722	0.63178	.	.	ENSG00000146166	ENST00000370657	D	0.85556	-2.0	5.17	4.29	0.51040	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.179206	0.64402	N	0.000010	T	0.74504	0.3725	L	0.36672	1.1	0.80722	D	1	P	0.39665	0.682	P	0.45856	0.495	T	0.78155	-0.2314	10	0.72032	D	0.01	-17.938	8.7812	0.34792	0.0:0.7686:0.1508:0.0806	.	262	Q5TDP6	LGSN_HUMAN	K	262	ENSP00000359691:R262K	ENSP00000359691:R262K	R	-	2	0	LGSN	64048630	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.726000	0.54977	1.291000	0.44653	0.650000	0.86243	AGG		0.433	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571	
CCDC170	80129	broad.mit.edu	37	6	151914390	151914390	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr6:151914390C>T	ENST00000239374.7	+	8	1541	c.1442C>T	c.(1441-1443)aCc>aTc	p.T481I	CCDC170_ENST00000367290.5_Missense_Mutation_p.T481I	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	481																	GAGAACAAGACCATTGCCCAC	0.423																																						uc003qol.2																			0					0						c.(1441-1443)ACC>ATC		hypothetical protein LOC80129							80.0	76.0	77.0					6																	151914390		1911	4115	6026	SO:0001583	missense	80129							g.chr6:151914390C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1442C>T	6.37:g.151914390C>T	ENSP00000239374:p.Thr481Ile						p.T481I	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	8	1531	+		Ovarian(120;0.126)	481			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1442C>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896360	0.72639	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.10382	2.88;2.88	5.87	5.87	0.94306	.	0.053590	0.64402	D	0.000001	T	0.24812	0.0602	M	0.79805	2.47	0.53005	D	0.999969	D	0.76494	0.999	D	0.67231	0.95	T	0.00294	-1.1840	10	0.40728	T	0.16	-10.6147	14.7159	0.69269	0.0:0.931:0.0:0.069	.	481	Q8IYT3	CF097_HUMAN	I	481	ENSP00000239374:T481I;ENSP00000356259:T481I	ENSP00000239374:T481I	T	+	2	0	C6orf97	151956083	0.997000	0.39634	0.969000	0.41365	0.796000	0.44982	3.686000	0.54685	2.941000	0.99782	0.655000	0.94253	ACC		0.423	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
KLHL7	55975	broad.mit.edu	37	7	23163411	23163411	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:23163411G>A	ENST00000339077.5	+	2	379	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000322275.5_Missense_Mutation_p.V46M|KLHL7_ENST00000410047.1_Missense_Mutation_p.V24M|KLHL7_ENST00000322231.7_Missense_Mutation_p.V24M|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000545443.1_Missense_Mutation_p.V24M|KLHL7_ENST00000409689.1_5'UTR|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000545771.1_Missense_Mutation_p.V24M	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	46	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGTGTGACGTGATCCTCAT	0.373																																						uc003svs.3																			0					0						c.(136-138)GTG>ATG		kelch-like 7 isoform 1							133.0	119.0	123.0					7																	23163411		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23163411G>A		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.136G>A	7.37:g.23163411G>A	ENSP00000343273:p.Val46Met					KLHL7_uc003svr.3_Missense_Mutation_p.V24M|KLHL7_uc011jys.1_Intron|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Translation_Start_Site|KLHL7_uc003svp.2_Missense_Mutation_p.V24M|KLHL7_uc003svq.2_Missense_Mutation_p.V46M|KLHL7_uc011jyu.1_Missense_Mutation_p.V24M	p.V46M	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN			2	429	+			46			BTB.		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.136G>A	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764842	0.90020	.	.	ENSG00000122550	ENST00000538858;ENST00000536369;ENST00000322231;ENST00000339077;ENST00000322275;ENST00000410047;ENST00000545771;ENST00000545443	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.46	5.46	0.80206	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91061	0.7187	M	0.91818	3.245	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.993;0.998;0.998	D	0.92466	0.5981	10	0.87932	D	0	.	19.6805	0.95960	0.0:0.0:1.0:0.0	.	24;46;24;46;24	F5GYE2;Q8IXQ5;Q8IXQ5-2;Q8IXQ5-3;Q8IXQ5-4	.;KLHL7_HUMAN;.;.;.	M	46;46;24;46;46;24;24;24	ENSP00000322958:V24M;ENSP00000343273:V46M;ENSP00000323270:V46M;ENSP00000386999:V24M;ENSP00000446445:V24M;ENSP00000442366:V24M	ENSP00000322958:V24M	V	+	1	0	KLHL7	23129936	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.829000	0.92055	2.724000	0.93272	0.563000	0.77884	GTG		0.373	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846	
MRPL32	64983	broad.mit.edu	37	7	42977165	42977165	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:42977165C>T	ENST00000223324.2	+	3	744	c.557C>T	c.(556-558)aCc>aTc	p.T186I	MRPL32_ENST00000496564.1_Intron	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	186					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						TCCTGGTTCACCCAGAATTGA	0.418																																						uc003tia.2																			0					0						c.(556-558)ACC>ATC		mitochondrial ribosomal protein L32 precursor							60.0	56.0	58.0					7																	42977165		2203	4300	6503	SO:0001583	missense	64983				translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	g.chr7:42977165C>T	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"""Mitochondrial ribosomal proteins / large subunits"""	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.557C>T	7.37:g.42977165C>T	ENSP00000223324:p.Thr186Ile					MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_Missense_Mutation_p.T133I	p.T186I	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN			3	604	+			186					Q96Q68|Q9P098	Missense_Mutation	SNP	ENST00000223324.2	37	c.557C>T	CCDS5468.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896256	0.52121	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.62	4.74	0.60224	.	0.387744	0.33650	N	0.004684	T	0.38054	0.1026	L	0.35341	1.055	0.35732	D	0.818	P	0.35527	0.507	B	0.28465	0.09	T	0.52480	-0.8570	9	0.45353	T	0.12	-18.1904	12.1394	0.53989	0.0:0.863:0.0:0.137	.	186	Q9BYC8	RM32_HUMAN	I	186	.	ENSP00000223324:T186I	T	+	2	0	MRPL32	42943690	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.614000	0.46359	2.644000	0.89710	0.561000	0.74099	ACC		0.418	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903	
WBSCR17	64409	broad.mit.edu	37	7	70886068	70886068	+	Silent	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:70886068C>T	ENST00000333538.5	+	5	1573	c.939C>T	c.(937-939)gcC>gcT	p.A313A	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	313					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGTGGGACGCCGGAGACCCTT	0.597																																						uc003tvy.2																			0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(937-939)GCC>GCT		UDP-GalNAc:polypeptide							54.0	56.0	56.0					7																	70886068		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70886068C>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.939C>T	7.37:g.70886068C>T						WBSCR17_uc003tvz.2_Silent_p.A12A	p.A313A	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			5	939	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	313			Lumenal (Potential).		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.939C>T	CCDS5540.1																																																																																				0.597	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
GRM3	2913	broad.mit.edu	37	7	86468552	86468552	+	Silent	SNP	C	C	T	rs372193050		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:86468552C>T	ENST00000361669.2	+	4	2821	c.1722C>T	c.(1720-1722)gaC>gaT	p.D574D	GRM3_ENST00000536043.1_Silent_p.D446D|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.D166D	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	574					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GGTGGGAAGACGCCTGGGCCA	0.498																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(1720-1722)GAC>GAT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)	C		1,4405	2.1+/-5.4	0,1,2202	102.0	98.0	100.0		1722	-3.0	1.0	7		100	0,8600		0,0,4300	no	coding-synonymous	GRM3	NM_000840.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		574/880	86468552	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468552C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1722C>T	7.37:g.86468552C>T						GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.D446D|GRM3_uc010leh.2_Silent_p.D166D	p.D574D	NM_000840	NP_000831	Q14832	GRM3_HUMAN			4	2821	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		574			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.1722C>T	CCDS5600.1																																																																																				0.498	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
COL1A2	1278	broad.mit.edu	37	7	94054953	94054953	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:94054953G>A	ENST00000297268.6	+	43	3284	c.2813G>A	c.(2812-2814)cGc>cAc	p.R938H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	938					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.R938H(2)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCCCAGGTCGCGATGGTCAA	0.488										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	2	Substitution - Missense(2)	p.R938H(1)	large_intestine(1)|central_nervous_system(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2812-2814)CGC>CAC		alpha 2 type I collagen precursor	Collagenase(DB00048)						107.0	97.0	101.0					7																	94054953		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94054953G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2813G>A	7.37:g.94054953G>A	ENSP00000297268:p.Arg938His	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.R938H	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		43	3284	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		938					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2813G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677284	0.88445	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94280	-3.39	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95943	0.8679	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95785	0.8820	10	0.72032	D	0.01	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	938	P08123	CO1A2_HUMAN	H	938;939	ENSP00000297268:R938H	ENSP00000297268:R938H	R	+	2	0	COL1A2	93892889	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	CGC		0.488	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
FZD6	8323	broad.mit.edu	37	8	104342147	104342147	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr8:104342147G>A	ENST00000358755.4	+	6	2123	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A	FZD6_ENST00000523739.1_Silent_p.A570A|FZD6_ENST00000540287.1_Silent_p.A297A|FZD6_ENST00000522566.1_Silent_p.A602A	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	602					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGGTGAAAGCGGACGGAGCTA	0.512																																						uc003ylh.2																			0				central_nervous_system(1)|skin(1)	2						c.(1804-1806)GCG>GCA		frizzled 6 isoform a precursor							88.0	71.0	76.0					8																	104342147		2203	4300	6503	SO:0001819	synonymous_variant	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104342147G>A	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1806G>A	8.37:g.104342147G>A						FZD6_uc003ylj.2_Silent_p.A602A|FZD6_uc011lhn.1_Silent_p.A568A|FZD6_uc011lho.1_Silent_p.A297A|FZD6_uc011lhp.1_Silent_p.A547A	p.A602A	NM_003506	NP_003497	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		6	2090	+			602			Cytoplasmic (Potential).		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP	ENST00000358755.4	37	c.1806G>A	CCDS6298.1																																																																																				0.512	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506	
C8orf76	84933	broad.mit.edu	37	8	124243741	124243743	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr8:124243741_124243743delAAG	ENST00000276704.4	-	4	663_665	c.612_614delCTT	c.(610-615)ttcttt>ttt	p.204_205FF>F	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_In_Frame_Del_p.172_173FF>F	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	204										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAGTGTGGAAAGAAGGATTTGA	0.433																																						uc003yqc.1																			0				ovary(2)	2						c.(610-615)TTCTTT>TTT		hypothetical protein LOC84933																																				SO:0001651	inframe_deletion	84933						binding	g.chr8:124243741_124243743delAAG	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.612_614delCTT	8.37:g.124243744_124243746delAAG	ENSP00000276704:p.Phe205del					C8orf76_uc003yqd.2_In_Frame_Del_p.172_173FF>F	p.204_205FF>F	NM_032847	NP_116236	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		4	643_645	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		204_205					Q53HC1	In_Frame_Del	DEL	ENST00000276704.4	37	c.612_614delCTT	CCDS6341.1																																																																																				0.433	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847	
EPPK1	83481	broad.mit.edu	37	8	144940328	144940328	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr8:144940328C>T	ENST00000525985.1	-	2	7165	c.7094G>A	c.(7093-7095)cGc>cAc	p.R2365H				P58107	EPIPL_HUMAN	epiplakin 1	2365						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGTAGCCGCGCCGGTAGGC	0.692																																						uc003zaa.1																			0				pancreas(1)|skin(1)	2						c.(15103-15105)CGC>CAC		epiplakin 1							222.0	214.0	217.0					8																	144940328		2180	4267	6447	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940328C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7094G>A	8.37:g.144940328C>T	ENSP00000436337:p.Arg2365His						p.R5035H	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	15117	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5035			Plectin 64.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.15104G>A		.	.	.	.	.	.	.	.	.	.	C	29.0	4.972835	0.92919	.	.	ENSG00000227184	ENST00000525985	T	0.79247	-1.25	4.43	3.55	0.40652	.	.	.	.	.	D	0.89083	0.6614	M	0.92412	3.305	0.39114	D	0.961524	D	0.89917	1.0	D	0.97110	1.0	D	0.89917	0.4056	9	0.45353	T	0.12	.	10.4455	0.44490	0.0:0.9039:0.0:0.0961	.	2365	E9PPU0	.	H	2365	ENSP00000436337:R2365H	ENSP00000436337:R2365H	R	-	2	0	EPPK1	145012316	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.732000	0.62029	1.215000	0.43411	0.591000	0.81541	CGC		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
TEK	7010	broad.mit.edu	37	9	27158007	27158007	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr9:27158007T>A	ENST00000380036.4	+	2	673	c.231T>A	c.(229-231)gaT>gaA	p.D77E	TEK_ENST00000406359.4_Missense_Mutation_p.D77E|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	77	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D77E(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TTACTCAAGATGTGACCAGAG	0.493																																						uc003zqi.3																			1	Substitution - Missense(1)	p.D77E(1)	central_nervous_system(1)	ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12						c.(229-231)GAT>GAA		TEK tyrosine kinase, endothelial precursor							92.0	93.0	93.0					9																	27158007		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27158007T>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.231T>A	9.37:g.27158007T>A	ENSP00000369375:p.Asp77Glu					TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.D77E|TEK_uc011lno.1_Missense_Mutation_p.D77E|TEK_uc011lnp.1_Intron|TEK_uc003zqj.1_Missense_Mutation_p.D54E	p.D77E	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	2	673	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	77			Extracellular (Potential).|Ig-like C2-type 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.231T>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	T	18.61	3.660332	0.67586	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	T;T	0.72725	-0.64;-0.68	5.92	4.79	0.61399	Tyrosine-protein kinase, receptor Tie-2, Ig-like domain 1, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000065	T	0.69269	0.3092	N	0.24115	0.695	0.38147	D	0.938632	B;D;D;P	0.57571	0.097;0.98;0.979;0.944	B;P;P;P	0.58721	0.108;0.844;0.683;0.692	T	0.73933	-0.3826	10	0.66056	D	0.02	.	10.4406	0.44464	0.0:0.1345:0.0:0.8655	.	110;77;77;77	Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	E	77	ENSP00000369375:D77E;ENSP00000383977:D77E	ENSP00000343716:D77E	D	+	3	2	TEK	27148007	0.544000	0.26441	0.998000	0.56505	0.997000	0.91878	0.393000	0.20817	1.079000	0.41038	0.533000	0.62120	GAT		0.493	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
TGFBR1	7046	broad.mit.edu	37	9	101908855	101908855	+	Missense_Mutation	SNP	G	G	A	rs146549837		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr9:101908855G>A	ENST00000374994.4	+	7	1336	c.1219G>A	c.(1219-1221)Gta>Ata	p.V407I	TGFBR1_ENST00000374990.2_Missense_Mutation_p.V330I|TGFBR1_ENST00000550253.1_Missense_Mutation_p.V338I|TGFBR1_ENST00000552516.1_Missense_Mutation_p.V411I|RNA5SP290_ENST00000517133.1_RNA	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AATGGGCTTAGTATTCTGGGA	0.398																																						uc004azc.2																			0				lung(2)|ovary(1)	3						c.(1219-1221)GTA>ATA		transforming growth factor, beta receptor I							285.0	284.0	284.0					9																	101908855		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101908855G>A		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1219G>A	9.37:g.101908855G>A	ENSP00000364133:p.Val407Ile					TGFBR1_uc004azd.2_Missense_Mutation_p.V330I|TGFBR1_uc011lvc.1_Missense_Mutation_p.V338I	p.V407I	NM_004612	NP_004603	P36897	TGFR1_HUMAN			7	1295	+		Acute lymphoblastic leukemia(62;0.0559)	407			Protein kinase.|Cytoplasmic (Potential).		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.1219G>A	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433002	0.62844	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	L	0.41961	1.31	0.80722	D	1	B;P	0.49783	0.03;0.928	B;P	0.49853	0.039;0.624	T	0.60934	-0.7164	10	0.31617	T	0.26	.	18.167	0.89731	0.0:0.0:1.0:0.0	.	330;407	P36897-3;P36897	.;TGFR1_HUMAN	I	407;369;330;411;338	ENSP00000364133:V407I;ENSP00000364129:V330I;ENSP00000447297:V411I;ENSP00000450052:V338I	ENSP00000364129:V330I	V	+	1	0	TGFBR1	100948676	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.810000	0.99221	2.651000	0.90000	0.467000	0.42956	GTA		0.398	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3		
ORM2	5005	broad.mit.edu	37	9	117092750	117092750	+	Silent	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr9:117092750C>A	ENST00000431067.2	+	2	187	c.151C>A	c.(151-153)Cga>Aga	p.R51R	ORM2_ENST00000412657.1_Nonsense_Mutation_p.S189*	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	51					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	ATCGGCCTTTCGAAACGAGGA	0.498																																					NSCLC(65;867 1308 1814 2391 12508)	uc004bil.2																			0					0						c.(151-153)CGA>AGA		orosomucoid 2 precursor							39.0	55.0	49.0					9																	117092750		2195	4296	6491	SO:0001819	synonymous_variant	5005				acute-phase response|regulation of immune system process|transport	extracellular space	binding	g.chr9:117092750C>A		CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"""Lipocalins"""	8499	protein-coding gene	gene with protein product	"""alpha-1-acid glycoprotein, type 2"""	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.151C>A	9.37:g.117092750C>A						ORM1_uc011lxo.1_Intron	p.R51R	NM_000608	NP_000599	P19652	A1AG2_HUMAN			2	267	+		Myeloproliferative disorder(63;0.163)	51					B2R5L2|Q16571|Q5T538|Q6IB74	Silent	SNP	ENST00000431067.2	37	c.151C>A	CCDS6804.1	.	.	.	.	.	.	.	.	.	.	-	14.54	2.564679	0.45694	.	.	ENSG00000228278	ENST00000412657	.	.	.	3.11	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	0.25259	A	0.010382	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5415	8.2346	0.31618	0.0:0.754:0.246:0.0	.	.	.	.	X	189	.	ENSP00000407099:S189X	S	+	2	0	ORM2	116132571	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.580000	0.23803	0.875000	0.35847	0.494000	0.49563	TCG		0.498	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608	
