#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
CEP104	9731	broad.mit.edu	37	1	3732029	3732029	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:3732029G>C	ENST00000378230.3	-	22	3039	c.2715C>G	c.(2713-2715)agC>agG	p.S905R		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	905						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TGGGGATCTTGCTTCCGGCCT	0.642																																						uc001aky.2																			0					0						c.(2713-2715)AGC>AGG		glycine-, glutamate-,							68.0	60.0	63.0					1																	3732029		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3732029G>C	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2715C>G	1.37:g.3732029G>C	ENSP00000367476:p.Ser905Arg					KIAA0562_uc010nzm.1_RNA	p.S905R	NM_014704	NP_055519	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	22	3074	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	905					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.2715C>G	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919273	0.52546	.	.	ENSG00000116198	ENST00000378230	T	0.40225	1.04	5.18	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66019	-0.6027	10	0.72032	D	0.01	.	10.6147	0.45443	0.0908:0.0:0.9092:0.0	.	905	O60308	CE104_HUMAN	R	905	ENSP00000367476:S905R	ENSP00000367476:S905R	S	-	3	2	CEP104	3721889	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	2.768000	0.47645	1.157000	0.42530	0.462000	0.41574	AGC		0.642	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	
TNFRSF8	943	broad.mit.edu	37	1	12164492	12164492	+	Nonsense_Mutation	SNP	C	C	T	rs148756853		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:12164492C>T	ENST00000263932.2	+	4	547	c.325C>T	c.(325-327)Cga>Tga	p.R109*	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	109					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CTGCGAATGTCGACCCGGCAT	0.577																																						uc001atq.2																			0				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5						c.(325-327)CGA>TGA		tumor necrosis factor receptor superfamily,		C	stop/ARG	1,4405		0,1,2202	174.0	130.0	145.0		325	2.9	0.1	1	dbSNP_134	145	0,8600		0,0,4300	no	stop-gained	TNFRSF8	NM_001243.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		109/596	12164492	1,13005	2203	4300	6503	SO:0001587	stop_gained	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12164492C>T	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.325C>T	1.37:g.12164492C>T	ENSP00000263932:p.Arg109*					TNFRSF8_uc010obc.1_5'UTR	p.R109*	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	4	547	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	109			TNFR-Cys 3.|Extracellular (Potential).		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Nonsense_Mutation	SNP	ENST00000263932.2	37	c.325C>T	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.045823	0.75846	2.27E-4	0.0	ENSG00000120949	ENST00000263932	.	.	.	4.92	2.87	0.33458	.	0.281964	0.25735	N	0.028656	.	.	.	.	.	.	0.20873	N	0.999832	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.0445	9.6551	0.39921	0.379:0.6209:0.0:0.0	.	.	.	.	X	109	.	ENSP00000263932:R109X	R	+	1	2	TNFRSF8	12087079	0.467000	0.25831	0.110000	0.21437	0.037000	0.13140	1.550000	0.36223	1.379000	0.46325	-0.175000	0.13238	CGA		0.577	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1		
DPH2	1802	broad.mit.edu	37	1	44437537	44437537	+	Silent	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:44437537G>T	ENST00000255108.3	+	4	1135	c.963G>T	c.(961-963)cgG>cgT	p.R321R	ATP6V0B_ENST00000472174.2_5'Flank|DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Silent_p.R186R	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	321					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCCTGGGGCGGCCCACCCCTG	0.607																																						uc001ckz.2																			0				ovary(1)	1						c.(961-963)CGG>CGT		diphthamide biosynthesis protein 2 isoform a							85.0	83.0	84.0					1																	44437537		2203	4300	6503	SO:0001819	synonymous_variant	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44437537G>T	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.963G>T	1.37:g.44437537G>T						DPH2_uc001cla.2_Intron|DPH2_uc010okk.1_Silent_p.R186R|DPH2_uc001clb.2_Silent_p.R245R	p.R321R	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN			4	1158	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	321					A8MVC9|B2RDE3|B4DNI8|O60623	Silent	SNP	ENST00000255108.3	37	c.963G>T	CCDS504.1																																																																																				0.607	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384	
PTGFR	5737	broad.mit.edu	37	1	79002163	79002163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:79002163C>T	ENST00000370757.3	+	3	1108	c.871C>T	c.(871-873)Cga>Tga	p.R291*	PTGFR_ENST00000370758.1_Nonsense_Mutation_p.R291*|PTGFR_ENST00000370756.3_3'UTR	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	291					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.R291R(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	TTTTGCTCTCCGAATGGCAAC	0.388																																						uc001din.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|skin(1)	6						c.(871-873)CGA>TGA		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						121.0	127.0	125.0					1																	79002163		2203	4300	6503	SO:0001587	stop_gained	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:79002163C>T	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.871C>T	1.37:g.79002163C>T	ENSP00000359793:p.Arg291*					PTGFR_uc001dim.2_3'UTR	p.R291*	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	3	1137	+			291			Helical; Name=7; (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Nonsense_Mutation	SNP	ENST00000370757.3	37	c.871C>T	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	36	5.658011	0.96734	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	.	.	.	5.66	3.63	0.41609	.	0.065138	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2188	14.6078	0.68493	0.265:0.735:0.0:0.0	.	.	.	.	X	291	.	ENSP00000359793:R291X	R	+	1	2	PTGFR	78774751	0.979000	0.34478	0.973000	0.42090	0.686000	0.39977	2.383000	0.44354	1.488000	0.48433	0.655000	0.94253	CGA		0.388	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959	
HRNR	388697	broad.mit.edu	37	1	152193260	152193260	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:152193260C>G	ENST00000368801.2	-	3	920	c.845G>C	c.(844-846)aGc>aCc	p.S282T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	282					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACCATAGCTGGAAGACGA	0.587																																						uc001ezt.1																			0				skin(2)|ovary(1)	3						c.(844-846)AGC>ACC		hornerin							269.0	246.0	253.0					1																	152193260		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193260C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.845G>C	1.37:g.152193260C>G	ENSP00000357791:p.Ser282Thr						p.S282T	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	921	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		282			3.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.845G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	7.425	0.637584	0.14386	.	.	ENSG00000197915	ENST00000368801	T	0.05199	3.48	4.48	1.55	0.23275	.	.	.	.	.	T	0.00815	0.0027	N	0.12182	0.205	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.47636	-0.9102	9	0.10636	T	0.68	.	4.9117	0.13825	0.0:0.4706:0.3376:0.1918	.	282	Q86YZ3	HORN_HUMAN	T	282	ENSP00000357791:S282T	ENSP00000357791:S282T	S	-	2	0	HRNR	150459884	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.321000	0.08018	0.153000	0.19213	0.644000	0.83932	AGC		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420|rs113617356|rs79268808		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)tgtggtdel	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578																																						uc001fak.2																			0					0						c.(142-147)TGTGGTdel		late cornified envelope 4A																																				SO:0001651	inframe_deletion	199834				keratinization			g.chr1:152681693_152681698delTGTGGT	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.142_147delTGTGGT	1.37:g.152681693_152681698delTGTGGT	ENSP00000357766:p.Cys48_Gly49del						p.CG48del	NM_178356	NP_848133	Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		1	171_176	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		48_49			Cys-rich.		Q14D97	In_Frame_Del	DEL	ENST00000368777.1	37	c.142_147delTGTGGT	CCDS1022.1																																																																																				0.578	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356	
IQGAP3	128239	broad.mit.edu	37	1	156518190	156518190	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:156518190G>C	ENST00000361170.2	-	18	2093	c.2083C>G	c.(2083-2085)Cct>Gct	p.P695A		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	695					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCCAGGAGGTTGCTCCCAG	0.557																																						uc001fpf.2																			0				ovary(5)|skin(1)	6						c.(2083-2085)CCT>GCT		IQ motif containing GTPase activating protein 3							79.0	73.0	75.0					1																	156518190		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156518190G>C	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2083C>G	1.37:g.156518190G>C	ENSP00000354451:p.Pro695Ala						p.P695A	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			18	2158	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		695					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.2083C>G	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322113	0.60634	.	.	ENSG00000183856	ENST00000361170	T	0.03745	3.82	4.83	4.83	0.62350	WW/Rsp5/WWP (1);	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.01256	-1.1404	10	0.72032	D	0.01	-18.9458	16.506	0.84272	0.0:0.0:1.0:0.0	.	695	Q86VI3	IQGA3_HUMAN	A	695	ENSP00000354451:P695A	ENSP00000354451:P695A	P	-	1	0	IQGAP3	154784814	1.000000	0.71417	0.055000	0.19348	0.378000	0.30076	7.831000	0.86748	2.221000	0.72209	0.561000	0.74099	CCT		0.557	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
ASPM	259266	broad.mit.edu	37	1	197061071	197061071	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:197061071G>T	ENST00000367409.4	-	22	9666	c.9410C>A	c.(9409-9411)gCt>gAt	p.A3137D	ASPM_ENST00000367408.1_Missense_Mutation_p.A802D|ASPM_ENST00000294732.7_Missense_Mutation_p.A1552D	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3137					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGCTTGTTAGCATTCTTCAC	0.338																																						uc001gtu.2																			0				ovary(4)|central_nervous_system(2)	6						c.(9409-9411)GCT>GAT		asp (abnormal spindle)-like, microcephaly							82.0	83.0	83.0					1																	197061071		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197061071G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9410C>A	1.37:g.197061071G>T	ENSP00000356379:p.Ala3137Asp					ASPM_uc001gtv.2_Missense_Mutation_p.A1552D|ASPM_uc001gtw.3_Missense_Mutation_p.A985D	p.A3137D	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			22	9667	-			3137					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.9410C>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388692	0.61956	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.71817	-0.6;-0.6;1.13	5.28	3.3	0.37823	.	0.190302	0.43579	D	0.000551	T	0.80924	0.4717	M	0.76002	2.32	0.09310	N	0.999999	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.78314	0.916;0.928;0.991	T	0.70288	-0.4913	10	0.52906	T	0.07	.	9.9929	0.41883	0.0763:0.1371:0.7866:0.0	.	1123;1552;3137	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	D	3137;1552;802;1123	ENSP00000356379:A3137D;ENSP00000294732:A1552D;ENSP00000356378:A802D	ENSP00000294732:A1552D	A	-	2	0	ASPM	195327694	0.996000	0.38824	0.065000	0.19835	0.007000	0.05969	3.575000	0.53870	1.376000	0.46267	0.650000	0.86243	GCT		0.338	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
OR2W5	441932	broad.mit.edu	37	1	247654810	247654810	+	RNA	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:247654810C>T	ENST00000522351.1	+	0	441							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							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(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGCCGTCTGCCGGTCCCTGC	0.587																																						uc001icz.1																			0				ovary(1)|breast(1)|skin(1)	3						c.(379-381)TGC>TGT		olfactory receptor, family 2, subfamily W,							101.0	85.0	90.0					1																	247654810		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654810C>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654810C>T							p.C127C	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	381	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	127					B9EH85	Silent	SNP	ENST00000522351.1	37	c.381C>T																																																																																					0.587	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698	
TRIM58	25893	broad.mit.edu	37	1	248039235	248039235	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:248039235C>T	ENST00000366481.3	+	6	953	c.905C>T	c.(904-906)cCg>cTg	p.P302L	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	302	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACGGCGCACCCGAGTCTGCTC	0.557																																						uc001ido.2																			0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(904-906)CCG>CTG		tripartite motif-containing 58							67.0	64.0	65.0					1																	248039235		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039235C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.905C>T	1.37:g.248039235C>T	ENSP00000355437:p.Pro302Leu					OR2W3_uc001idp.1_5'UTR	p.P302L	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	953	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	302			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.905C>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353478	0.41700	.	.	ENSG00000162722	ENST00000366481	T	0.14640	2.49	3.95	3.03	0.35002	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.56097	D	0.000026	T	0.31888	0.0811	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.03354	-1.1045	10	0.33141	T	0.24	.	11.2344	0.48931	0.1846:0.8154:0.0:0.0	.	302	Q8NG06	TRI58_HUMAN	L	302	ENSP00000355437:P302L	ENSP00000355437:P302L	P	+	2	0	TRIM58	246105858	0.974000	0.33945	0.558000	0.28319	0.020000	0.10135	2.673000	0.46858	1.250000	0.43966	0.650000	0.86243	CCG		0.557	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431	
OR2L3	391192	broad.mit.edu	37	1	248224640	248224640	+	Silent	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:248224640G>T	ENST00000359959.3	+	1	657	c.657G>T	c.(655-657)cgG>cgT	p.R219R	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTATGGCCGGGTTCTCCTTG	0.498																																						uc001idx.1																			0					0						c.(655-657)CGG>CGT		olfactory receptor, family 2, subfamily L,							125.0	131.0	129.0					1																	248224640		2203	4300	6503	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224640G>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.657G>T	1.37:g.248224640G>T						OR2L13_uc001ids.2_Intron	p.R219R	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	657	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		219			Cytoplasmic (Potential).		B9EH44	Silent	SNP	ENST00000359959.3	37	c.657G>T	CCDS31104.1																																																																																				0.498	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687	
OR2G6	391211	broad.mit.edu	37	1	248685400	248685400	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:248685400C>T	ENST00000343414.4	+	1	485	c.453C>T	c.(451-453)agC>agT	p.S151S		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGGCTCAGCGGCCTCATCA	0.577																																						uc001ien.1																			0				ovary(2)|skin(1)	3						c.(451-453)AGC>AGT		olfactory receptor, family 2, subfamily G,							74.0	58.0	64.0					1																	248685400		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685400C>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.453C>T	1.37:g.248685400C>T							p.S151S	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	453	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	151			Helical; Name=4; (Potential).		B2RP33	Silent	SNP	ENST00000343414.4	37	c.453C>T	CCDS31119.1																																																																																				0.577	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842	
ITIH5	80760	broad.mit.edu	37	10	7605143	7605143	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr10:7605143G>A	ENST00000256861.6	-	14	2810	c.2732C>T	c.(2731-2733)gCc>gTc	p.A911V	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Missense_Mutation_p.A693V|ITIH5_ENST00000298441.6_Missense_Mutation_p.A697V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	911					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGTTTGGCGGCATTGTTCCT	0.522																																						uc001ijq.2																			0				ovary(2)|central_nervous_system(2)	4						c.(2731-2733)GCC>GTC		inter-alpha trypsin inhibitor heavy chain							194.0	155.0	168.0					10																	7605143		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7605143G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2732C>T	10.37:g.7605143G>A	ENSP00000256861:p.Ala911Val					ITIH5_uc001ijp.2_Missense_Mutation_p.A697V	p.A911V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			14	2811	-			911					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.2732C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.191492	0.94923	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.02280	4.56;4.36;4.38	5.79	5.79	0.91817	.	0.103793	0.64402	D	0.000002	T	0.13670	0.0331	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70227	0.929;0.968	T	0.00025	-1.2315	9	0.72032	D	0.01	-26.4128	20.0275	0.97527	0.0:0.0:1.0:0.0	.	911;697	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	V	911;697;693	ENSP00000256861:A911V;ENSP00000298441:A697V;ENSP00000387969:A693V	ENSP00000256861:A911V	A	-	2	0	ITIH5	7645149	1.000000	0.71417	0.905000	0.35620	0.802000	0.45316	9.282000	0.95840	2.737000	0.93849	0.650000	0.86243	GCC		0.522	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	
ITIH5	80760	broad.mit.edu	37	10	7659109	7659109	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr10:7659109G>T	ENST00000256861.6	-	6	867	c.789C>A	c.(787-789)gaC>gaA	p.D263E	ITIH5_ENST00000397145.2_Missense_Mutation_p.D263E|ITIH5_ENST00000397146.2_Missense_Mutation_p.D263E|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.D45E|ITIH5_ENST00000298441.6_Missense_Mutation_p.D49E	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	263					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTCTATTGACGTCATATCTAA	0.388																																						uc001ijq.2																			0				ovary(2)|central_nervous_system(2)	4						c.(787-789)GAC>GAA		inter-alpha trypsin inhibitor heavy chain							195.0	176.0	182.0					10																	7659109		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7659109G>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.789C>A	10.37:g.7659109G>T	ENSP00000256861:p.Asp263Glu					ITIH5_uc001ijp.2_Missense_Mutation_p.D49E|ITIH5_uc001ijr.1_Missense_Mutation_p.D263E	p.D263E	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			6	868	-			263					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.789C>A		.	.	.	.	.	.	.	.	.	.	G	14.05	2.420845	0.42918	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.81	0.758	0.18432	.	0.045684	0.85682	D	0.000000	D	0.85948	0.5816	.	.	.	0.39361	D	0.965929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.985;1.0	D	0.84937	0.0863	9	0.72032	D	0.01	-25.327	10.3157	0.43736	0.6705:0.0:0.3295:0.0	.	263;263;49	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	E	263;263;49;45;263	ENSP00000256861:D263E;ENSP00000380333:D263E;ENSP00000298441:D49E;ENSP00000387969:D45E;ENSP00000380332:D263E	ENSP00000256861:D263E	D	-	3	2	ITIH5	7699115	0.995000	0.38212	0.955000	0.39395	0.234000	0.25298	0.518000	0.22847	-0.114000	0.11936	-1.215000	0.01618	GAC		0.388	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	
CYP2C18	1562	broad.mit.edu	37	10	96447617	96447617	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr10:96447617C>T	ENST00000285979.6	+	2	458	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	CYP2C18_ENST00000339022.5_Silent_p.L87L	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	87					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GAAGGAGGCCCTGATTGATCA	0.433																																						uc001kjv.3																			0				ovary(3)|lung(1)|skin(1)	5						c.(259-261)CTG>TTG		cytochrome P450 family 2 subfamily C polypeptide							260.0	249.0	253.0					10																	96447617		2203	4300	6503	SO:0001819	synonymous_variant	1562				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96447617C>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.259C>T	10.37:g.96447617C>T						CYP2C18_uc001kjw.3_Silent_p.L87L|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.1_5'Flank	p.L87L	NM_000772	NP_000763	P33260	CP2CI_HUMAN		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	2	585	+		Colorectal(252;0.09)	87					B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Silent	SNP	ENST00000285979.6	37	c.259C>T	CCDS7435.1																																																																																				0.433	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772	
SOX6	55553	broad.mit.edu	37	11	16007846	16007846	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:16007846C>T	ENST00000352083.6	-	15	2164	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	SOX6_ENST00000396356.3_Missense_Mutation_p.R676H|SOX6_ENST00000316399.6_Missense_Mutation_p.R676H|SOX6_ENST00000527619.1_Missense_Mutation_p.R672H|SOX6_ENST00000528252.1_Missense_Mutation_p.R669H|SOX6_ENST00000528429.1_Missense_Mutation_p.R696H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	696					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AATGCAGGTGCGTTTCGGTCG	0.473																																						uc001mme.2																			0				ovary(3)	3						c.(2125-2127)CGC>CAC		SRY (sex determining region Y)-box 6 isoform 4							211.0	201.0	204.0					11																	16007846		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16007846C>T	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.2087G>A	11.37:g.16007846C>T	ENSP00000339876:p.Arg696His					SOX6_uc001mmd.2_Missense_Mutation_p.R672H|SOX6_uc001mmf.2_Missense_Mutation_p.R669H|SOX6_uc001mmg.2_Missense_Mutation_p.R676H	p.R709H	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			15	2159	-			696					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.2126G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.117344	0.94385	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	5.6	5.6	0.85130	High mobility group, HMG1/HMG2 (1);	0.000000	0.85682	D	0.000000	T	0.79621	0.4477	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.993	T	0.81965	-0.0691	10	0.87932	D	0	.	19.6107	0.95606	0.0:1.0:0.0:0.0	.	676;696;672	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	H	676;696;676;669;672;696	ENSP00000324948:R676H;ENSP00000339876:R696H;ENSP00000379644:R676H;ENSP00000432134:R669H;ENSP00000434455:R672H;ENSP00000433233:R696H	ENSP00000324948:R676H	R	-	2	0	SOX6	15964422	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.648000	0.89879	0.655000	0.94253	CGC		0.473	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326	
MRGPRX3	117195	broad.mit.edu	37	11	18158842	18158842	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:18158842G>A	ENST00000396275.2	+	3	454	c.93G>A	c.(91-93)acG>acA	p.T31T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGAGCTTCACGGGGCTGACGT	0.567																																						uc001mnu.2																			0				ovary(1)|pancreas(1)	2						c.(91-93)ACG>ACA		MAS-related GPR, member X3							164.0	159.0	160.0					11																	18158842		2200	4293	6493	SO:0001819	synonymous_variant	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158842G>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.93G>A	11.37:g.18158842G>A							p.T31T	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN			3	454	+			31			Extracellular (Potential).		B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	ENST00000396275.2	37	c.93G>A	CCDS7830.1																																																																																				0.567	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031	
MYBPC3	4607	broad.mit.edu	37	11	47360181	47360181	+	Missense_Mutation	SNP	C	C	T	rs534345197		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:47360181C>T	ENST00000545968.1	-	23	2252	c.2198G>A	c.(2197-2199)cGc>cAc	p.R733H	MYBPC3_ENST00000399249.2_Missense_Mutation_p.R733H|MYBPC3_ENST00000256993.4_Missense_Mutation_p.R732H	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	733	Ig-like C2-type 5.		R -> C (in CMH4). {ECO:0000269|PubMed:15519027}.		cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GAAGATGCTGCGGTCCTTGGT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17879	0.0		0.001	False		,,,				2504	0.0					uc001nfa.3																			0				ovary(2)|central_nervous_system(1)	3						c.(2197-2199)CGC>CAC		myosin binding protein C, cardiac							75.0	75.0	75.0					11																	47360181		2074	4190	6264	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47360181C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2198G>A	11.37:g.47360181C>T	ENSP00000442795:p.Arg733His					MYBPC3_uc010rhl.1_RNA	p.R733H	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	22	2253	-			732		R -> C (in CMH4).	Ig-like C2-type 5.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2198G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789362	0.31685	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.68025	-0.3;-0.3;-0.3	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37046	0.0989	N	0.02865	-0.47	0.45777	D	0.998665	B	0.10296	0.003	B	0.10450	0.005	T	0.35798	-0.9774	9	0.15066	T	0.55	.	7.0416	0.25023	0.0:0.7913:0.0:0.2087	.	732	Q14896	MYPC3_HUMAN	H	733;733;732	ENSP00000442795:R733H;ENSP00000382193:R733H;ENSP00000256993:R732H	ENSP00000256993:R732H	R	-	2	0	MYBPC3	47316757	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.074000	0.50065	2.536000	0.85505	0.563000	0.77884	CGC		0.632	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3		
OR4B1	119765	broad.mit.edu	37	11	48238965	48238965	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:48238965G>A	ENST00000309562.2	+	1	622	c.604G>A	c.(604-606)Gga>Aga	p.G202R		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGCCAACAGTGGATTATTCTC	0.473																																						uc010rhs.1																			0				skin(2)|ovary(1)|pancreas(1)	4						c.(604-606)GGA>AGA		olfactory receptor, family 4, subfamily B,							193.0	156.0	169.0					11																	48238965		2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238965G>A	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.604G>A	11.37:g.48238965G>A	ENSP00000311605:p.Gly202Arg						p.G202R	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			1	604	+			202			Helical; Name=5; (Potential).		Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.604G>A	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728186	0.48833	.	.	ENSG00000175619	ENST00000309562	T	0.38401	1.14	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.68851	0.3046	H	0.95574	3.69	0.40309	D	0.978697	D	0.89917	1.0	D	0.97110	1.0	T	0.77584	-0.2533	10	0.87932	D	0	.	10.4263	0.44380	0.0886:0.0:0.9114:0.0	.	202	Q8NGF8	OR4B1_HUMAN	R	202	ENSP00000311605:G202R	ENSP00000311605:G202R	G	+	1	0	OR4B1	48195541	1.000000	0.71417	0.996000	0.52242	0.079000	0.17450	1.085000	0.30840	2.599000	0.87857	0.508000	0.49915	GGA		0.473	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470	
RTN4RL2	349667	broad.mit.edu	37	11	57235097	57235097	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:57235097G>C	ENST00000533205.1	+	2	56	c.47G>C	c.(46-48)tGc>tCc	p.C16S	RTN4RL2_ENST00000335099.3_Missense_Mutation_p.C16S|RTN4RL2_ENST00000395120.2_Missense_Mutation_p.C16S					reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCCTCGGCCTGCCTCCTGCTG	0.682																																						uc010rjt.1																			0					0						c.(46-48)TGC>TCC		reticulon 4 receptor-like 2 precursor							68.0	70.0	70.0					11																	57235097		2201	4296	6497	SO:0001583	missense	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57235097G>C	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000533205.1:c.47G>C	11.37:g.57235097G>C	ENSP00000435606:p.Cys16Ser						p.C16S	NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN			2	47	+			16						Missense_Mutation	SNP	ENST00000533205.1	37	c.47G>C		.	.	.	.	.	.	.	.	.	.	G	13.86	2.362342	0.41902	.	.	ENSG00000186907	ENST00000335099;ENST00000533205;ENST00000395120	T;T;T	0.66460	0.06;-0.2;-0.21	4.96	4.96	0.65561	.	0.318741	0.22396	N	0.060616	T	0.61788	0.2375	M	0.66297	2.02	0.25725	N	0.985332	B	0.14012	0.009	B	0.06405	0.002	T	0.53500	-0.8430	10	0.40728	T	0.16	.	9.2638	0.37627	0.0:0.2553:0.6016:0.143	.	16	Q86UN3	R4RL2_HUMAN	S	16	ENSP00000335397:C16S;ENSP00000435606:C16S;ENSP00000378552:C16S	ENSP00000335397:C16S	C	+	2	0	RTN4RL2	56991673	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.986000	0.70563	2.471000	0.83476	0.561000	0.74099	TGC		0.682	RTN4RL2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000392538.1	NM_178570	
OR1S1	219959	broad.mit.edu	37	11	57982381	57982381	+	Silent	SNP	C	C	T	rs199668390		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:57982381C>T	ENST00000309433.6	+	1	165	c.165C>T	c.(163-165)aaC>aaT	p.N55N		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGATTGGGAACGGGCTCATCA	0.443																																						uc010rkc.1																			0				breast(1)	1						c.(163-165)AAC>AAT		olfactory receptor, family 1, subfamily S,							328.0	301.0	310.0					11																	57982381		2201	4296	6497	SO:0001819	synonymous_variant	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982381C>T	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.165C>T	11.37:g.57982381C>T							p.N55N	NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN			1	165	+		Breast(21;0.0589)	55			Helical; Name=1; (Potential).		Q6IFG3	Silent	SNP	ENST00000309433.6	37	c.165C>T	CCDS31546.1																																																																																				0.443	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458	
MS4A3	932	broad.mit.edu	37	11	59837091	59837091	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:59837091C>T	ENST00000278865.3	+	6	631	c.558C>T	c.(556-558)tgC>tgT	p.C186C	MS4A3_ENST00000534744.1_Silent_p.C140C|MS4A3_ENST00000395032.2_Silent_p.C63C|MS4A3_ENST00000358152.2_Silent_p.C140C	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	186						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.C186C(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGGAATTATGCGTAACCATCT	0.413																																						uc001nom.2																			1	Substitution - coding silent(1)		prostate(1)	ovary(2)|skin(1)	3						c.(556-558)TGC>TGT		membrane-spanning 4-domains, subfamily A, member							279.0	258.0	265.0					11																	59837091		2201	4295	6496	SO:0001819	synonymous_variant	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59837091C>T	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.558C>T	11.37:g.59837091C>T						MS4A3_uc001non.2_Silent_p.C140C|MS4A3_uc001noo.2_Silent_p.C63C	p.C186C	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			6	686	+		all_epithelial(135;0.245)	186			Helical; (Potential).		A8MTP8|Q8NHW2	Silent	SNP	ENST00000278865.3	37	c.558C>T	CCDS31567.1																																																																																				0.413	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1		
POLD4	57804	broad.mit.edu	37	11	67120265	67120265	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:67120265G>A	ENST00000312419.3	-	3	342	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	AP003419.11_ENST00000543494.1_RNA|POLD4_ENST00000539074.1_Intron|POLD4_ENST00000529704.1_5'UTR	NM_021173.4	NP_066996.3	Q9HCU8	DPOD4_HUMAN	polymerase (DNA-directed), delta 4, accessory subunit	66					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			CGCTGCAGCCGTGTGATCCCT	0.637																																						uc001okm.2																			0					0						c.(196-198)CGG>TGG		DNA-directed DNA polymerase delta 4							19.0	22.0	21.0					11																	67120265		2194	4282	6476	SO:0001583	missense	57804				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:67120265G>A	AF179890	CCDS8158.1, CCDS58149.1	11q13	2012-05-18	2012-05-18		ENSG00000175482	ENSG00000175482		"""DNA polymerases"""	14106	protein-coding gene	gene with protein product	"""DNA polymerase delta smallest subunit p12"""	611525	"""polymerase (DNA-directed), delta 4"""			10751307	Standard	NM_021173		Approved	p12, POLDS	uc001okm.4	Q9HCU8	OTTHUMG00000167135	ENST00000312419.3:c.196C>T	11.37:g.67120265G>A	ENSP00000311368:p.Arg66Trp					LOC100130987_uc010rpo.1_Intron|POLD4_uc001okn.2_RNA|POLD4_uc001oko.2_RNA|POLD4_uc001okp.1_3'UTR	p.R66W	NM_021173	NP_066996	Q9HCU8	DPOD4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.08e-06)		3	343	-			66					F5H506	Missense_Mutation	SNP	ENST00000312419.3	37	c.196C>T	CCDS8158.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783972	0.70222	.	.	ENSG00000175482	ENST00000312419	T	0.51817	0.69	4.3	2.32	0.28847	.	0.000000	0.42548	D	0.000698	T	0.69142	0.3078	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70249	-0.4924	10	0.87932	D	0	-16.1453	8.9307	0.35668	0.0:0.0:0.5774:0.4226	.	66	Q9HCU8	DPOD4_HUMAN	W	66	ENSP00000311368:R66W	ENSP00000311368:R66W	R	-	1	2	POLD4	66876841	0.919000	0.31177	1.000000	0.80357	0.935000	0.57460	1.020000	0.30027	0.391000	0.25143	0.462000	0.41574	CGG		0.637	POLD4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393336.1	NM_021173	
MTNR1B	4544	broad.mit.edu	37	11	92714860	92714860	+	Silent	SNP	C	C	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:92714860C>A	ENST00000257068.2	+	2	477	c.471C>A	c.(469-471)acC>acA	p.T157T		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	157					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GCTGGCACACCCCTCTGCACA	0.572																																						uc001pdk.1																			0				ovary(1)|central_nervous_system(1)	2						c.(469-471)ACC>ACA		melatonin receptor 1B	Ramelteon(DB00980)						129.0	122.0	124.0					11																	92714860		2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714860C>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.471C>A	11.37:g.92714860C>A							p.T157T	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	574	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	157			Helical; Name=4; (Potential).			Silent	SNP	ENST00000257068.2	37	c.471C>A	CCDS8290.1																																																																																				0.572	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1		
CWF19L2	143884	broad.mit.edu	37	11	107200691	107200691	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:107200691C>T	ENST00000282251.5	-	17	2521	c.2494G>A	c.(2494-2496)Gcc>Acc	p.A832T		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	832							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATGACATGGGCAAACCCTCCG	0.383																																						uc010rvp.1																			0					0						c.(2494-2496)GCC>ACC		CWF19-like 2, cell cycle control							70.0	65.0	67.0					11																	107200691		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107200691C>T	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2494G>A	11.37:g.107200691C>T	ENSP00000282251:p.Ala832Thr					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.A832T	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	17	2524	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	832					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.2494G>A	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	35	5.516427	0.96402	.	.	ENSG00000152404	ENST00000282251;ENST00000409771	T	0.32515	1.45	5.75	5.75	0.90469	Cwf19-like protein, C-terminal domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67764	-0.5586	10	0.62326	D	0.03	-9.4335	18.948	0.92628	0.0:1.0:0.0:0.0	.	832	Q2TBE0	C19L2_HUMAN	T	832;90	ENSP00000282251:A832T	ENSP00000282251:A832T	A	-	1	0	CWF19L2	106705901	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.815000	0.86186	2.716000	0.92895	0.655000	0.94253	GCC		0.383	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
PRPF40B	25766	broad.mit.edu	37	12	50030600	50030600	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:50030600C>T	ENST00000380281.1	+	15	1526	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C	FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R510C|PRPF40B_ENST00000261897.1_Missense_Mutation_p.R482C			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	488					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TCGGGAGCGACGCCAACAACG	0.562											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rur.1																			0				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(1462-1464)CGC>TGC		Huntingtin interacting protein C isoform 1							109.0	107.0	108.0					12																	50030600		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50030600C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1462C>T	12.37:g.50030600C>T	ENSP00000369634:p.Arg488Cys		OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	966	PRPF40B_uc001rup.1_Missense_Mutation_p.R510C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R482C|PRPF40B_uc001rus.1_Missense_Mutation_p.R431C	p.R488C	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			15	1526	+			488					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.1462C>T		.	.	.	.	.	.	.	.	.	.	C	25.0	4.594439	0.86953	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.37915	1.17;1.19	4.86	4.86	0.63082	FF domain (1);	0.000000	0.64402	D	0.000008	T	0.64907	0.2641	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.997	T	0.68700	-0.5339	9	.	.	.	-9.1963	17.2809	0.87128	0.0:1.0:0.0:0.0	.	488;482;488	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	C	482;488	ENSP00000261897:R482C;ENSP00000369634:R488C	.	R	+	1	0	PRPF40B	48316867	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.821000	0.55700	2.704000	0.92352	0.655000	0.94253	CGC		0.562	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272	
CELA1	1990	broad.mit.edu	37	12	51723540	51723540	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:51723540G>A	ENST00000293636.1	-	7	727	c.687C>T	c.(685-687)agC>agT	p.S229S		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	229	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						TACAGCCCCGGCTGGACACAA	0.512																																						uc001ryi.1																			0				breast(1)	1						c.(685-687)AGC>AGT		chymotrypsin-like elastase family, member 1							79.0	79.0	79.0					12																	51723540		2203	4300	6503	SO:0001819	synonymous_variant	1990				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:51723540G>A		CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.687C>T	12.37:g.51723540G>A							p.S229S	NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN			7	728	-			229			Peptidase S1.		Q5MLF0|Q6DJT0|Q6ISM6	Silent	SNP	ENST00000293636.1	37	c.687C>T	CCDS8812.1																																																																																				0.512	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971	
STAT2	6773	broad.mit.edu	37	12	56748251	56748251	+	Splice_Site	SNP	A	A	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:56748251A>G	ENST00000314128.4	-	8	804	c.781T>C	c.(781-783)Tgg>Cgg	p.W261R	RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000557235.1_Splice_Site_p.W257R|STAT2_ENST00000418572.2_Splice_Site_p.W257R			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	261					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						ACCTCTCACCATGTCTCCAGC	0.527																																						uc001slc.2																			0				ovary(1)|lung(1)|kidney(1)	3						c.(781-783)TGG>CGG		signal transducer and activator of transcription							167.0	128.0	141.0					12																	56748251		2203	4300	6503	SO:0001630	splice_region_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56748251A>G	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.782+1T>C	12.37:g.56748251A>G						STAT2_uc001sld.2_Missense_Mutation_p.W257R|STAT2_uc010sqn.1_Missense_Mutation_p.W257R	p.W261R	NM_005419	NP_005410	P52630	STAT2_HUMAN			8	859	-			261					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.781T>C	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507206	0.85282	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	T;T;T	0.63580	-0.05;-0.05;-0.05	4.67	4.67	0.58626	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	T	0.79293	0.4421	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	0.957;0.999;1.0	P;D;D	0.91635	0.848;0.975;0.999	T	0.80850	-0.1198	10	0.45353	T	0.12	-8.1231	13.543	0.61686	1.0:0.0:0.0:0.0	.	257;257;261	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	R	261;257;257	ENSP00000315768:W261R;ENSP00000450751:W257R;ENSP00000387354:W257R	ENSP00000315768:W261R	W	-	1	0	STAT2	55034518	1.000000	0.71417	0.989000	0.46669	0.266000	0.26442	8.110000	0.89562	2.091000	0.63221	0.482000	0.46254	TGG		0.527	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419	Missense_Mutation
UTP20	27340	broad.mit.edu	37	12	101750729	101750729	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:101750729C>A	ENST00000261637.4	+	43	5734	c.5560C>A	c.(5560-5562)Ctc>Atc	p.L1854I	snoU13_ENST00000458958.1_RNA	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1854					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTGTGCCCTACTCAAGAACAG	0.363																																						uc001tia.1																			0				ovary(2)|breast(2)	4						c.(5560-5562)CTC>ATC		down-regulated in metastasis							67.0	62.0	64.0					12																	101750729		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101750729C>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5560C>A	12.37:g.101750729C>A	ENSP00000261637:p.Leu1854Ile						p.L1854I	NM_014503	NP_055318	O75691	UTP20_HUMAN			43	5716	+			1854			HEAT 2.		Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.5560C>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682342	0.88542	.	.	ENSG00000120800	ENST00000261637	T	0.73681	-0.77	6.06	6.06	0.98353	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87877	0.6288	M	0.88031	2.925	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.89211	0.3564	10	0.87932	D	0	-13.6163	13.7717	0.63029	0.0:0.9303:0.0:0.0697	.	1854	O75691	UTP20_HUMAN	I	1854	ENSP00000261637:L1854I	ENSP00000261637:L1854I	L	+	1	0	UTP20	100274860	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.491000	0.66887	2.882000	0.98803	0.655000	0.94253	CTC		0.363	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
TMEM132B	114795	broad.mit.edu	37	12	125834519	125834519	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:125834519G>A	ENST00000299308.3	+	2	582	c.574G>A	c.(574-576)Gag>Aag	p.E192K	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	192						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCTGCTGCCCGAGTGGTTCAG	0.632																																						uc001uhe.1																			0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(574-576)GAG>AAG		transmembrane protein 132B							42.0	46.0	45.0					12																	125834519		1998	4197	6195	SO:0001583	missense	114795					integral to membrane		g.chr12:125834519G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.574G>A	12.37:g.125834519G>A	ENSP00000299308:p.Glu192Lys						p.E192K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	582	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		192			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.574G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297023	0.60086	.	.	ENSG00000139364	ENST00000299308	T	0.44881	0.91	5.34	5.34	0.76211	.	.	.	.	.	T	0.24547	0.0595	L	0.39898	1.24	0.80722	D	1	P	0.51791	0.948	B	0.31016	0.123	T	0.06092	-1.0846	9	0.36615	T	0.2	.	6.9427	0.24502	0.2114:0.0:0.7886:0.0	.	192	Q14DG7	T132B_HUMAN	K	192	ENSP00000299308:E192K	ENSP00000299308:E192K	E	+	1	0	TMEM132B	124400472	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	2.699000	0.47077	2.488000	0.83962	0.655000	0.94253	GAG		0.632	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
RB1	5925	broad.mit.edu	37	13	49039351	49039351	+	Nonsense_Mutation	SNP	T	T	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr13:49039351T>A	ENST00000267163.4	+	23	2474	c.2336T>A	c.(2335-2337)tTg>tAg	p.L779*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	779	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCCCCTACCTTGTCACCAATA	0.398		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		26	Whole gene deletion(15)|Unknown(11)	p.?(7)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(2335-2337)TTG>TAG		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						157.0	163.0	161.0					13																	49039351		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039351T>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2336T>A	13.37:g.49039351T>A	ENSP00000267163:p.Leu779*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.L779*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	23	2502	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	779			Interaction with LIMD1.|Domain C; mediates interaction with E4F1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.2336T>A	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	40	8.364551	0.98779	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2567	0.82522	0.0:0.0:0.0:1.0	.	.	.	.	X	758;779	.	ENSP00000267163:L779X	L	+	2	0	RB1	47937352	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.484000	0.81180	2.242000	0.73789	0.482000	0.46254	TTG		0.398	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
FGF14	2259	broad.mit.edu	37	13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr13:102375254G>A	ENST00000376143.4	-	5	670	c.671C>T	c.(670-672)aCg>aTg	p.T224M	ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376131.4_Missense_Mutation_p.T229M	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	224					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.T224M(1)|p.T229M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACTTGGCGTCACCCCAGG	0.473																																						uc001vpe.2																			2	Substitution - Missense(2)		large_intestine(2)	ovary(2)|lung(1)|large_intestine(1)	4						c.(670-672)ACG>ATG		fibroblast growth factor 14 isoform 1A							267.0	201.0	224.0					13																	102375254		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102375254G>A		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.671C>T	13.37:g.102375254G>A	ENSP00000365313:p.Thr224Met					FGF14_uc001vpf.2_Missense_Mutation_p.T229M|FGF14_uc001vpd.1_5'Flank	p.T224M	NM_004115	NP_004106	Q92915	FGF14_HUMAN			5	671	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		224					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.671C>T	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925108	0.73213	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.79454	-1.27;-1.19	5.65	5.65	0.86999	.	0.181513	0.52532	D	0.000065	T	0.82268	0.5000	L	0.32530	0.975	0.54753	D	0.999989	D;D	0.76494	0.999;0.982	P;P	0.61397	0.888;0.684	D	0.83575	0.0114	10	0.66056	D	0.02	.	19.7432	0.96238	0.0:0.0:1.0:0.0	.	229;224	Q92915-2;Q92915	.;FGF14_HUMAN	M	229;224	ENSP00000365301:T229M;ENSP00000365313:T224M	ENSP00000365301:T229M	T	-	2	0	FGF14	101173255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.663000	0.90544	0.563000	0.77884	ACG		0.473	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2		
RNF31	55072	broad.mit.edu	37	14	24627141	24627141	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr14:24627141C>A	ENST00000324103.6	+	17	3082	c.2762C>A	c.(2761-2763)tCc>tAc	p.S921Y	RNF31_ENST00000382687.3_Missense_Mutation_p.S770Y|RNA5SP383_ENST00000362934.1_RNA|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.S396Y|RNF31_ENST00000559275.1_Missense_Mutation_p.S770Y	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	921	LDD domain.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GTGAAAAAGTCCCTGCACGGC	0.587																																						uc001wmn.1																			0				large_intestine(1)|ovary(1)	2						c.(2761-2763)TCC>TAC		ring finger protein 31							63.0	65.0	65.0					14																	24627141		1904	4125	6029	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24627141C>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2762C>A	14.37:g.24627141C>A	ENSP00000315112:p.Ser921Tyr					RNF31_uc001wml.1_Missense_Mutation_p.S770Y|RNF31_uc010alg.1_Missense_Mutation_p.S680Y|RNF31_uc001wmo.1_Missense_Mutation_p.S388Y|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_Missense_Mutation_p.S105Y	p.S921Y	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	17	3011	+			921			IBR-type 2.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.2762C>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873739	0.72180	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.77358	-1.09;-1.09	5.35	3.49	0.39957	Zinc finger, C6HC-type (1);	0.231767	0.44688	D	0.000426	T	0.80944	0.4721	L	0.51422	1.61	0.39448	D	0.96735	D;P;D;D	0.60575	0.963;0.895;0.963;0.988	P;B;P;P	0.59761	0.521;0.423;0.521;0.863	T	0.82020	-0.0664	10	0.72032	D	0.01	-12.8635	10.2382	0.43297	0.0:0.7879:0.137:0.0751	.	921;680;921;770	A0A962;B3KV71;Q96EP0;Q96EP0-3	.;.;RNF31_HUMAN;.	Y	354;921;770	ENSP00000315112:S921Y;ENSP00000372134:S770Y	ENSP00000315112:S921Y	S	+	2	0	RNF31	23696981	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.925000	0.48884	0.911000	0.36747	0.655000	0.94253	TCC		0.587	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999	
CEP128	145508	broad.mit.edu	37	14	81329142	81329142	+	Missense_Mutation	SNP	G	G	A	rs200105295		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr14:81329142G>A	ENST00000555265.1	-	9	1096	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	CEP128_ENST00000281129.3_Missense_Mutation_p.R241C|CEP128_ENST00000216517.6_Missense_Mutation_p.R241C			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	241						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.R241C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TGATCCTGGCGTCTTTCCACC	0.463																																						uc001xux.2																			1	Substitution - Missense(1)	p.R241C(1)	central_nervous_system(1)		0						c.(721-723)CGC>TGC		hypothetical protein LOC145508							135.0	117.0	123.0					14																	81329142		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81329142G>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.721C>T	14.37:g.81329142G>A	ENSP00000451162:p.Arg241Cys					C14orf145_uc001xuz.2_Missense_Mutation_p.R241C|C14orf145_uc001xuy.1_Missense_Mutation_p.R99C	p.R241C	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	8	892	-			241			Potential.		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.721C>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981040	0.53827	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517	T;T;T	0.56444	1.11;1.11;0.46	6.08	6.08	0.98989	.	0.155258	0.45606	D	0.000341	T	0.72112	0.3420	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.982;0.994;0.996	T	0.70901	-0.4746	10	0.59425	D	0.04	.	19.4349	0.94788	0.0:0.0:1.0:0.0	.	241;122;241	Q6ZU80-3;Q8N3Z7;Q6ZU80	.;.;CE128_HUMAN	C	241	ENSP00000281129:R241C;ENSP00000451162:R241C;ENSP00000216517:R241C	ENSP00000216517:R241C	R	-	1	0	CEP128	80398895	1.000000	0.71417	0.967000	0.41034	0.022000	0.10575	5.208000	0.65203	2.894000	0.99253	0.655000	0.94253	CGC		0.463	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446	
FLRT2	23768	broad.mit.edu	37	14	86088466	86088466	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr14:86088466T>C	ENST00000330753.4	+	2	1375	c.608T>C	c.(607-609)cTc>cCc	p.L203P	FLRT2_ENST00000554746.1_Missense_Mutation_p.L203P	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	203					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTCCAGAATCTCACGAGCTTG	0.522																																						uc001xvr.2																			0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(607-609)CTC>CCC		fibronectin leucine rich transmembrane protein 2							116.0	117.0	116.0					14																	86088466		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088466T>C	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.608T>C	14.37:g.86088466T>C	ENSP00000332879:p.Leu203Pro					FLRT2_uc010atd.2_Missense_Mutation_p.L203P	p.L203P	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1375	+			203			Extracellular (Potential).		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.608T>C	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.447853	0.63178	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.71103	-0.54;-0.54	5.42	5.42	0.78866	.	0.064498	0.64402	D	0.000005	D	0.88370	0.6418	H	0.96720	3.87	0.80722	D	1	D	0.65815	0.995	P	0.61658	0.892	D	0.92338	0.5879	10	0.87932	D	0	-16.1667	15.7612	0.78082	0.0:0.0:0.0:1.0	.	203	O43155	FLRT2_HUMAN	P	203	ENSP00000332879:L203P;ENSP00000451050:L203P	ENSP00000332879:L203P	L	+	2	0	FLRT2	85158219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.996000	0.88334	2.182000	0.69389	0.528000	0.53228	CTC		0.522	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
GATM	2628	broad.mit.edu	37	15	45668979	45668979	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr15:45668979G>T	ENST00000396659.3	-	2	447	c.108C>A	c.(106-108)ttC>ttA	p.F36L	GATM_ENST00000458245.5_5'Flank|GATM_ENST00000558336.1_Missense_Mutation_p.F36L	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	36					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	GGGTGCTCTGGAAAGTTCGCT	0.512																																						uc001zvc.2																			0					0						c.(106-108)TTC>TTA		L-arginine:glycine amidinotransferase precursor	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)						66.0	61.0	62.0					15																	45668979		2198	4298	6496	SO:0001583	missense	2628				creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	g.chr15:45668979G>T	S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.108C>A	15.37:g.45668979G>T	ENSP00000379895:p.Phe36Leu					GATM_uc001zvb.2_5'UTR|GATM_uc010uev.1_Missense_Mutation_p.F89L	p.F36L	NM_001482	NP_001473	P50440	GATM_HUMAN		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	2	437	-		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	36					B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	ENST00000396659.3	37	c.108C>A	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809807	0.50421	.	.	ENSG00000171766	ENST00000396659	T	0.42513	0.97	5.81	5.81	0.92471	.	0.199529	0.52532	D	0.000066	T	0.29223	0.0727	N	0.16478	0.41	0.40759	D	0.982988	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.0	T	0.11036	-1.0604	10	0.14656	T	0.56	-9.1178	17.5723	0.87937	0.0:0.0:1.0:0.0	.	36;36	P50440-3;P50440	.;GATM_HUMAN	L	36	ENSP00000379895:F36L	ENSP00000379895:F36L	F	-	3	2	GATM	43456271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.578000	0.53892	2.736000	0.93811	0.655000	0.94253	TTC		0.512	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482	
MEGF11	84465	broad.mit.edu	37	15	66191203	66191203	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr15:66191203G>T	ENST00000409699.2	-	22	3009	c.2837C>A	c.(2836-2838)aCa>aAa	p.T946K	MEGF11_ENST00000422354.1_Missense_Mutation_p.T946K|MEGF11_ENST00000395625.2_Missense_Mutation_p.T871K|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.T871K|MEGF11_ENST00000360698.4_3'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	946					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GTCCTTAATTGTGGCGTAAGG	0.468																																						uc002apm.2																			0				pancreas(1)	1						c.(2836-2838)ACA>AAA		multiple EGF-like-domains 11 precursor							140.0	127.0	132.0					15																	66191203		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66191203G>T	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2837C>A	15.37:g.66191203G>T	ENSP00000386908:p.Thr946Lys					MEGF11_uc002apl.2_Missense_Mutation_p.T871K|MEGF11_uc002apn.1_Missense_Mutation_p.T946K	p.T946K	NM_032445	NP_115821	A6BM72	MEG11_HUMAN			22	2978	-			946					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.2837C>A	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832222	0.71258	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625	D;D;D;D	0.95035	-3.59;-3.46;-3.59;-3.46	5.35	5.35	0.76521	.	0.000000	0.41823	U	0.000802	D	0.92916	0.7746	M	0.73962	2.25	0.80722	D	1	P;B	0.39665	0.682;0.082	B;B	0.37943	0.261;0.037	D	0.90963	0.4814	10	0.02654	T	1	.	19.2576	0.93952	0.0:0.0:1.0:0.0	.	946;871	A6BM72;A6BM72-2	MEG11_HUMAN;.	K	946;871;946;871	ENSP00000386908:T946K;ENSP00000288745:T871K;ENSP00000414475:T946K;ENSP00000378987:T871K	ENSP00000288745:T871K	T	-	2	0	MEGF11	63978257	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.263000	0.95617	2.789000	0.95967	0.655000	0.94253	ACA		0.468	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445	
PGPEP1L	145814	broad.mit.edu	37	15	99512679	99512679	+	Missense_Mutation	SNP	C	C	T	rs372203076		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr15:99512679C>T	ENST00000378919.6	-	4	551	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000535714.1_Missense_Mutation_p.V62M	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	116							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						GAAAAGATCACGTCGACACCC	0.627																																						uc002bum.2																			0					0						c.(346-348)GTG>ATG		pyroglutamyl-peptidase 1-like protein		C	MET/VAL,MET/VAL	0,4380		0,0,2190	116.0	119.0	118.0		346,184	2.4	0.0	15		118	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	PGPEP1L	NM_001102612.2,NM_001167902.1	21,21	0,1,6484	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	116/197,62/143	99512679	1,12969	2190	4295	6485	SO:0001583	missense	145814				proteolysis		cysteine-type peptidase activity	g.chr15:99512679C>T		CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.346G>A	15.37:g.99512679C>T	ENSP00000368199:p.Val116Met					PGPEP1L_uc010bop.2_Missense_Mutation_p.V62M|PGPEP1L_uc002bun.2_RNA	p.V116M	NM_001102612	NP_001096082	A6NFU8	PGPIL_HUMAN			4	552	-			116					H0YF86	Missense_Mutation	SNP	ENST00000378919.6	37	c.346G>A	CCDS53977.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462278	0.43736	0.0	1.16E-4	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.42900	0.96	4.37	2.39	0.29439	.	0.260668	0.30051	N	0.010539	T	0.50154	0.1599	M	0.88105	2.93	0.09310	N	1	D	0.61080	0.989	P	0.46339	0.513	T	0.51663	-0.8677	10	0.62326	D	0.03	-18.8338	8.0737	0.30704	0.0:0.6917:0.0:0.3083	.	116	A6NFU8	PGPIL_HUMAN	M	116;109	ENSP00000368199:V116M	ENSP00000368199:V116M	V	-	1	0	PGPEP1L	97330202	0.273000	0.24181	0.016000	0.15963	0.001000	0.01503	1.491000	0.35583	1.026000	0.39733	0.655000	0.94253	GTG		0.627	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2	
TMEM219	124446	broad.mit.edu	37	16	29979390	29979390	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:29979390A>G	ENST00000566848.1	+	3	867	c.400A>G	c.(400-402)Aca>Gca	p.T134A	TMEM219_ENST00000414689.2_Missense_Mutation_p.T134A|TMEM219_ENST00000279396.6_Missense_Mutation_p.T134A|TMEM219_ENST00000561899.2_Missense_Mutation_p.T134A			Q86XT9	TM219_HUMAN	transmembrane protein 219	134					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(1)|prostate(2)	4						CAGGGTGACCACAGAAAGGAC	0.527																																						uc002duw.2																			0					0						c.(400-402)ACA>GCA		transmembrane protein 219							105.0	114.0	111.0					16																	29979390		1917	4121	6038	SO:0001583	missense	124446					integral to membrane		g.chr16:29979390A>G		CCDS42145.1	16p11.2	2008-08-08			ENSG00000149932	ENSG00000149932			25201	protein-coding gene	gene with protein product							Standard	NM_194280		Approved		uc010bzk.1	Q86XT9		ENST00000566848.1:c.400A>G	16.37:g.29979390A>G	ENSP00000457492:p.Thr134Ala					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Missense_Mutation_p.T134A|TMEM219_uc010bzk.1_Missense_Mutation_p.T134A|TMEM219_uc002duz.2_Missense_Mutation_p.T134A|TMEM219_uc010bzl.1_RNA	p.T134A	NM_194280	NP_919256	Q86XT9	TM219_HUMAN			4	567	+			134					D5FK14|Q8WVV8	Missense_Mutation	SNP	ENST00000566848.1	37	c.400A>G	CCDS42145.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.101870	0.37048	.	.	ENSG00000149932	ENST00000414689;ENST00000279396	.	.	.	5.66	-8.18	0.01053	.	1.104690	0.06739	N	0.777946	T	0.14830	0.0358	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19778	-1.0295	9	0.17369	T	0.5	-30.8269	1.9273	0.03319	0.2652:0.3872:0.1476:0.2	.	134	Q86XT9	TM219_HUMAN	A	134	.	ENSP00000279396:T134A	T	+	1	0	TMEM219	29886891	0.045000	0.20229	0.438000	0.26821	0.979000	0.70002	-0.439000	0.06897	-1.490000	0.01842	0.459000	0.35465	ACA		0.527	TMEM219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435307.1	NM_001083613	
SNX20	124460	broad.mit.edu	37	16	50707501	50707501	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:50707501C>T	ENST00000330943.4	-	4	938	c.767G>A	c.(766-768)cGc>cAc	p.R256H	SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570241.2_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	256					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)	p.R256H(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GGCCTGCAGGCGCTGCAGGGC	0.741																																						uc002egk.2																			1	Substitution - Missense(1)		ovary(1)	ovary(1)	1						c.(766-768)CGC>CAC		sorting nexin 20 isoform 1							11.0	12.0	12.0					16																	50707501		2141	4176	6317	SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707501C>T	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.767G>A	16.37:g.50707501C>T	ENSP00000332062:p.Arg256His					SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	p.R256H	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN			4	940	-			256					A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.767G>A	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	C	9.247	1.039662	0.19669	.	.	ENSG00000167208	ENST00000330943	T	0.63255	-0.03	5.78	-0.716	0.11212	.	1.061170	0.07144	N	0.847877	T	0.29423	0.0733	N	0.02011	-0.69	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.20207	-1.0282	10	0.14252	T	0.57	-9.3972	5.375	0.16160	0.2284:0.4895:0.0:0.2821	.	256	Q7Z614	SNX20_HUMAN	H	256	ENSP00000332062:R256H	ENSP00000332062:R256H	R	-	2	0	SNX20	49265002	0.000000	0.05858	0.189000	0.23252	0.961000	0.63080	-0.606000	0.05654	0.264000	0.21851	-0.314000	0.08810	CGC		0.741	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337	
CPNE2	221184	broad.mit.edu	37	16	57153520	57153520	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:57153520C>T	ENST00000535318.2	+	8	1000	c.639C>T	c.(637-639)ccC>ccT	p.P213P	CPNE2_ENST00000565874.1_Silent_p.P213P|CPNE2_ENST00000290776.8_Silent_p.P213P|CPNE2_ENST00000537605.1_Silent_p.P111P			Q96FN4	CPNE2_HUMAN	copine II	213	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TCACAGTGCCCTTGGTGTCCC	0.617																																						uc002eks.1																			0				central_nervous_system(1)|skin(1)	2						c.(637-639)CCC>CCT		copine II							84.0	71.0	75.0					16																	57153520		2198	4300	6498	SO:0001819	synonymous_variant	221184							g.chr16:57153520C>T		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.639C>T	16.37:g.57153520C>T						CPNE2_uc010cct.1_Silent_p.P239P|CPNE2_uc010ccu.1_Silent_p.P213P	p.P213P	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN			7	868	+		all_neural(199;0.224)	213			C2 2.		Q68D19|Q719H8|Q86XP9	Silent	SNP	ENST00000535318.2	37	c.639C>T	CCDS10774.1																																																																																				0.617	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727	
PKD1L2	114780	broad.mit.edu	37	16	81181065	81181065	+	RNA	SNP	C	C	T	rs113696594	byFrequency	TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:81181065C>T	ENST00000525539.1	-	0	5025				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGCCCAAGGCGGGGGATGGC	0.547													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21379	0.001		0.0	False		,,,				2504	0.0					uc002fgh.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(5026-5028)GCC>ACC		polycystin 1-like 2 isoform a		C	THR/ALA	7,3959		0,7,1976	83.0	85.0	85.0		5026	-2.9	0.0	16	dbSNP_132	85	0,8294		0,0,4147	no	missense	PKD1L2	NM_052892.3	58	0,7,6123	TT,TC,CC		0.0,0.1765,0.0571	benign	1676/2460	81181065	7,12253	1983	4147	6130			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81181065C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81181065C>T						PKD1L2_uc002fgg.1_RNA	p.A1676T	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			30	5026	-			1676			Cytoplasmic (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.5026G>A																																																																																					0.547	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
NEURL4	84461	broad.mit.edu	37	17	7220634	7220634	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:7220634G>A	ENST00000399464.2	-	28	4389	c.4374C>T	c.(4372-4374)ttC>ttT	p.F1458F	GPS2_ENST00000391950.3_5'Flank|NEURL4_ENST00000574120.1_5'UTR|GPS2_ENST00000380728.2_5'Flank|GPS2_ENST00000389167.5_5'Flank|NEURL4_ENST00000315614.7_Silent_p.F1456F|NEURL4_ENST00000570460.1_Silent_p.F1434F|RP11-542C16.2_ENST00000575474.1_Missense_Mutation_p.S272L	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1458						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGCTCCTCGAACCCTACCC	0.607																																						uc002gga.1																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(4372-4374)TTC>TTT		neuralized homolog 4 isoform 1							45.0	49.0	47.0					17																	7220634		1988	4136	6124	SO:0001819	synonymous_variant	84461						protein binding	g.chr17:7220634G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.4374C>T	17.37:g.7220634G>A						GPS2_uc002gfv.1_5'Flank|GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Silent_p.F1456F	p.F1458F	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			28	4381	-			1458					Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.4374C>T	CCDS42251.1																																																																																				0.607	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442	
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	C	G	rs587780075		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:7577138C>G	ENST00000269305.4	-	8	989	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R267P|TP53_ENST00000420246.2_Missense_Mutation_p.R267P|TP53_ENST00000445888.2_Missense_Mutation_p.R267P|TP53_ENST00000359597.4_Missense_Mutation_p.R267P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAAGCTGTTCCGTCCCAGTAG	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		59	Substitution - Missense(33)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.R267W(20)|p.R267P(13)|p.0?(7)|p.R267Q(7)|p.R267R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.R267fs*78(1)|p.N268fs*77(1)|p.L265_K305del41(1)|p.R267G(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.R267L(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(14)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(5)|ovary(5)|breast(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|stomach(2)|oesophagus(2)|liver(2)|eye(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM921040	TP53	M		c.(799-801)CGG>CCG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577138C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.800G>C	17.37:g.7577138C>G	ENSP00000269305:p.Arg267Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P	p.R267P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	994	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	267		R -> H (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.800G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857957	0.71834	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.13	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99837	0.9926	M	0.90759	3.145	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.998	D	0.97815	1.0253	10	0.87932	D	0	-8.7531	8.8334	0.35098	0.0:0.7658:0.1508:0.0834	.	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	267;267;267;267;267;256;135	ENSP00000352610:R267P;ENSP00000269305:R267P;ENSP00000398846:R267P;ENSP00000391127:R267P;ENSP00000391478:R267P;ENSP00000425104:R135P	ENSP00000269305:R267P	R	-	2	0	TP53	7517863	1.000000	0.71417	0.489000	0.27452	0.858000	0.48976	7.587000	0.82613	0.725000	0.32318	0.462000	0.41574	CGG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
SLC47A2	146802	broad.mit.edu	37	17	19618087	19618087	+	Missense_Mutation	SNP	C	C	T	rs148775490	byFrequency	TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:19618087C>T	ENST00000325411.5	-	3	291	c.241G>A	c.(241-243)Gga>Aga	p.G81R	SLC47A2_ENST00000350657.5_Missense_Mutation_p.G81R|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	81					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	ACAGAAACTCCGCAGACATTG	0.587																																						uc002gwe.3																			0					0						c.(241-243)GGA>AGA		solute carrier family 47, member 2 isoform 1		C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	186.0	174.0	178.0		241,241	5.1	0.1	17	dbSNP_134	178	3,8597	3.7+/-12.6	0,3,4297	yes	missense,missense	SLC47A2	NM_001099646.1,NM_152908.3	125,125	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	81/567,81/603	19618087	3,13003	2203	4300	6503	SO:0001583	missense	146802					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19618087C>T	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.241G>A	17.37:g.19618087C>T	ENSP00000326671:p.Gly81Arg					SLC47A2_uc002gwg.3_Missense_Mutation_p.G81R|SLC47A2_uc002gwf.3_Missense_Mutation_p.G81R|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA	p.G81R	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN			3	416	-	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)		81			Helical; (Potential).		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	ENST00000325411.5	37	c.241G>A	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626401	0.87560	0.0	3.49E-4	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000456947;ENST00000433844	T;T;T	0.31510	1.49;1.49;1.49	5.12	5.12	0.69794	.	0.053182	0.85682	D	0.000000	T	0.71108	0.3301	H	0.98178	4.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.83080	-0.0138	10	0.87932	D	0	-21.9958	16.0508	0.80760	0.0:1.0:0.0:0.0	.	81;81;81	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	R	81;81;32;81	ENSP00000338084:G81R;ENSP00000326671:G81R;ENSP00000391848:G81R	ENSP00000326671:G81R	G	-	1	0	SLC47A2	19558679	0.978000	0.34361	0.099000	0.21106	0.187000	0.23431	4.923000	0.63412	2.386000	0.81285	0.455000	0.32223	GGA		0.587	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908	
DHRS13	147015	broad.mit.edu	37	17	27228288	27228288	+	Silent	SNP	C	C	T	rs549688711	byFrequency	TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:27228288C>T	ENST00000378895.4	-	4	528	c.402G>A	c.(400-402)gcG>gcA	p.A134A	DHRS13_ENST00000394901.3_Silent_p.A84A|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000426464.2_Silent_p.A53A|RP11-20B24.4_ENST00000579187.1_RNA|DHRS13_ENST00000581974.1_5'Flank	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	134						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCAGGTTAAACGCCTCACGGG	0.592													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16743	0.0		0.0	False		,,,				2504	0.001					uc002hde.3																			0					0						c.(400-402)GCG>GCA		dehydrogenase/reductase (SDR family) member 13							66.0	66.0	66.0					17																	27228288		2203	4300	6503	SO:0001819	synonymous_variant	147015					extracellular region	binding|oxidoreductase activity	g.chr17:27228288C>T	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.402G>A	17.37:g.27228288C>T						DHRS13_uc002hdd.3_Silent_p.A84A|DHRS13_uc010wba.1_Silent_p.A53A	p.A134A	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		4	529	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		134					Q96BH7	Silent	SNP	ENST00000378895.4	37	c.402G>A	CCDS11246.2																																																																																				0.592	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683	
MTMR4	9110	broad.mit.edu	37	17	56582201	56582201	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:56582201C>T	ENST00000323456.5	-	12	1362	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	MTMR4_ENST00000579925.1_Missense_Mutation_p.R413H	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	413	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.|Substrate binding. {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCGGTGTGCGGTCCCAGCC	0.532																																						uc002iwj.2																			0				skin(1)	1						c.(1237-1239)CGC>CAC		myotubularin related protein 4							131.0	124.0	127.0					17																	56582201		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56582201C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1238G>A	17.37:g.56582201C>T	ENSP00000325285:p.Arg413His						p.R413H	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			12	1348	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		413			Myotubularin phosphatase.|Substrate binding (By similarity).		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.1238G>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211568	0.95069	.	.	ENSG00000108389	ENST00000323456	D	0.91740	-2.9	5.58	4.61	0.57282	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.050255	0.85682	N	0.000000	D	0.97892	0.9307	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98781	1.0732	10	0.87932	D	0	.	13.7194	0.62717	0.0:0.9259:0.0:0.0741	.	413	Q9NYA4	MTMR4_HUMAN	H	413	ENSP00000325285:R413H	ENSP00000325285:R413H	R	-	2	0	MTMR4	53937200	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	1.503000	0.48686	0.591000	0.81541	CGC		0.532	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687	
AXIN2	8313	broad.mit.edu	37	17	63553948	63553948	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:63553948G>A	ENST00000375702.5	-	1	899	c.791C>T	c.(790-792)aCg>aTg	p.T264M	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Missense_Mutation_p.T264M			Q9Y2T1	AXIN2_HUMAN	axin 2	264					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						AACAGTTTCCGTGGACCTCAC	0.537									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2																			0				central_nervous_system(1)|skin(1)	2						c.(790-792)ACG>ATG		axin 2							73.0	67.0	69.0					17																	63553948		2203	4300	6503	SO:0001583	missense	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63553948G>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.791C>T	17.37:g.63553948G>A	ENSP00000364854:p.Thr264Met					AXIN2_uc010den.1_Missense_Mutation_p.T264M|AXIN2_uc002jfh.2_Missense_Mutation_p.T264M|AXIN2_uc002jfj.1_Missense_Mutation_p.T264M	p.T264M	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			2	1080	-			264					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.791C>T		.	.	.	.	.	.	.	.	.	.	G	4.089	0.014475	0.07959	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	D;D	0.82619	-1.63;-1.63	5.12	2.05	0.26809	.	0.621803	0.17903	N	0.158120	T	0.73202	0.3557	L	0.44542	1.39	0.19300	N	0.999978	B;B;B	0.17038	0.02;0.007;0.02	B;B;B	0.10450	0.005;0.004;0.005	T	0.62525	-0.6836	10	0.54805	T	0.06	-5.2189	5.1548	0.15029	0.2271:0.0:0.6293:0.1436	.	264;264;264	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	M	264	ENSP00000302625:T264M;ENSP00000364854:T264M	ENSP00000302625:T264M	T	-	2	0	AXIN2	60984410	0.396000	0.25262	0.225000	0.23894	0.824000	0.46624	1.828000	0.39111	0.190000	0.20209	0.455000	0.32223	ACG		0.537	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655	
EMR3	84658	broad.mit.edu	37	19	14785604	14785604	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs370548709		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:14785604C>T	ENST00000253673.5	-	0	79				EMR3_ENST00000443157.2_De_novo_Start_OutOfFrame|EMR3_ENST00000599900.1_Intron|EMR3_ENST00000595472.1_De_novo_Start_OutOfFrame|EMR3_ENST00000344373.4_De_novo_Start_OutOfFrame	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGGTATCCCACGCCAGCCAGC	0.507																																						uc002mzi.3																			0				ovary(5)|skin(1)	6						c.(-23--19)GCGTG>GCATG		egf-like module-containing mucin-like receptor		C		1,4405	2.1+/-5.4	0,1,2202	128.0	112.0	117.0			-4.1	0.0	19		117	0,8600		0,0,4300	no	utr-5	EMR3	NM_032571.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077			14785604	1,13005	2203	4300	6503			84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14785604C>T	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.-22G>A	19.37:g.14785604C>T						EMR3_uc010dzp.2_Translation_Start_Site|EMR3_uc010xnv.1_Translation_Start_Site		NM_032571	NP_115960	Q9BY15	EMR3_HUMAN			1	127	-									Translation_Start_Site	SNP	ENST00000253673.5	37	c.-21G>A	CCDS12315.1																																																																																				0.507	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	
F2RL3	9002	broad.mit.edu	37	19	17000950	17000950	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:17000950G>A	ENST00000248076.3	+	2	1006	c.676G>A	c.(676-678)Gtg>Atg	p.V226M		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	226					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTCCGATCGCGTGCTCTGCCA	0.701																																						uc002nfa.2																			0					0						c.(676-678)GTG>ATG		coagulation factor II (thrombin) receptor-like 3							20.0	17.0	18.0					19																	17000950		2190	4291	6481	SO:0001583	missense	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17000950G>A	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.676G>A	19.37:g.17000950G>A	ENSP00000248076:p.Val226Met						p.V226M	NM_003950	NP_003941	Q96RI0	PAR4_HUMAN			2	851	+			226			Extracellular (Potential).		O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.676G>A	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	G	9.233	1.036407	0.19669	.	.	ENSG00000127533	ENST00000248076	T	0.37752	1.18	4.15	-1.51	0.08664	GPCR, rhodopsin-like superfamily (1);	0.259259	0.28901	N	0.013768	T	0.17066	0.0410	L	0.34521	1.04	0.27291	N	0.957842	P	0.34934	0.476	B	0.22386	0.039	T	0.08722	-1.0708	10	0.42905	T	0.14	.	4.2992	0.10916	0.4101:0.415:0.175:0.0	.	226	Q96RI0	PAR4_HUMAN	M	226	ENSP00000248076:V226M	ENSP00000248076:V226M	V	+	1	0	F2RL3	16861950	0.911000	0.30947	0.066000	0.19879	0.099000	0.18886	2.143000	0.42187	-0.080000	0.12685	0.491000	0.48974	GTG		0.701	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1		
FFAR3	2865	broad.mit.edu	37	19	35849928	35849928	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:35849928C>T	ENST00000327809.4	+	2	337	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	FFAR3_ENST00000594310.1_Missense_Mutation_p.R46C	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	46					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GCTGCAGCGCCGCCCGGTGGC	0.637																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	uc002nzd.2																			0					0						c.(136-138)CGC>TGC		free fatty acid receptor 3							183.0	167.0	173.0					19																	35849928		2199	4295	6494	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35849928C>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.136C>T	19.37:g.35849928C>T	ENSP00000328230:p.Arg46Cys					FFAR3_uc010xsu.1_RNA	p.R46C	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	211	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		46			Cytoplasmic.		B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.136C>T	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602815	0.28534	.	.	ENSG00000185897	ENST00000327809	T	0.46063	0.88	4.99	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.412595	0.22698	N	0.056734	T	0.47060	0.1425	M	0.78049	2.395	0.09310	N	1	B	0.22146	0.065	B	0.22601	0.04	T	0.46582	-0.9181	10	0.66056	D	0.02	-13.6349	14.3015	0.66355	0.0:0.9186:0.0:0.0814	.	46	O14843	FFAR3_HUMAN	C	46	ENSP00000328230:R46C	ENSP00000328230:R46C	R	+	1	0	FFAR3	40541768	0.000000	0.05858	0.804000	0.32291	0.835000	0.47333	0.660000	0.25009	0.708000	0.31955	-1.644000	0.00765	CGC		0.637	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304	
ZNF229	7772	broad.mit.edu	37	19	44932920	44932920	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:44932920G>A	ENST00000588931.1	-	6	2469	c.2036C>T	c.(2035-2037)aCg>aTg	p.T679M	ZNF229_ENST00000291187.4_Missense_Mutation_p.T673M|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	679					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(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTTTTTTCCCGTGTGGACTCG	0.512																																						uc002oze.1																			0				skin(2)|ovary(1)|pancreas(1)	4						c.(2035-2037)ACG>ATG		zinc finger protein 229							130.0	131.0	131.0					19																	44932920		2116	4257	6373	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44932920G>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.2036C>T	19.37:g.44932920G>A	ENSP00000466519:p.Thr679Met					ZNF229_uc010ejk.1_Missense_Mutation_p.T333M|ZNF229_uc010ejl.1_Missense_Mutation_p.T673M	p.T679M	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	2470	-		Prostate(69;0.0352)	679					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.2036C>T	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900752	0.92035	.	.	ENSG00000167383	ENST00000291187	T	0.19806	2.12	3.82	2.75	0.32379	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47021	0.1423	M	0.82923	2.615	0.33603	D	0.602642	D	0.89917	1.0	D	0.73380	0.98	T	0.63449	-0.6635	9	0.72032	D	0.01	.	12.0118	0.53291	0.0:0.1767:0.8233:0.0	.	679	Q9UJW7	ZN229_HUMAN	M	679	ENSP00000291187:T679M	ENSP00000291187:T679M	T	-	2	0	ZNF229	49624760	0.713000	0.27926	0.226000	0.23910	0.928000	0.56348	0.916000	0.28651	0.564000	0.29238	0.609000	0.83330	ACG		0.512	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518	
ZNF534	147658	broad.mit.edu	37	19	52942354	52942354	+	Silent	SNP	A	A	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:52942354A>G	ENST00000332323.6	+	4	1741	c.1680A>G	c.(1678-1680)gaA>gaG	p.E560E	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Silent_p.E547E|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	560					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)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATACTGGAGAAAAGCCTTACA	0.433																																						uc002pzk.2																			0					0						c.(1678-1680)GAA>GAG		zinc finger protein 534 isoform 2							86.0	82.0	83.0					19																	52942354		692	1591	2283	SO:0001819	synonymous_variant	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942354A>G	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1680A>G	19.37:g.52942354A>G						ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.E547E	p.E560E	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	1741	+			560					Q76KX9	Silent	SNP	ENST00000332323.6	37	c.1680A>G	CCDS46165.1																																																																																				0.433	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512	
EHD3	30845	broad.mit.edu	37	2	31484475	31484475	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:31484475A>T	ENST00000322054.5	+	5	1261	c.976A>T	c.(976-978)Aac>Tac	p.N326Y	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	326					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CGGGAAGGACAACAAGAAGAA	0.552																																						uc002rnu.2																			0				skin(2)	2						c.(976-978)AAC>TAC		EH-domain containing 3							151.0	139.0	143.0					2																	31484475		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31484475A>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.976A>T	2.37:g.31484475A>T	ENSP00000327116:p.Asn326Tyr					EHD3_uc010ymt.1_Intron	p.N326Y	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			5	1584	+	Acute lymphoblastic leukemia(172;0.155)		326					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.976A>T	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.963411	0.53507	.	.	ENSG00000013016	ENST00000322054	T	0.18016	2.24	6.04	6.04	0.98038	.	0.038178	0.85682	D	0.000000	T	0.24699	0.0599	M	0.64997	1.995	0.80722	D	1	P	0.43412	0.806	B	0.42738	0.396	T	0.01021	-1.1478	10	0.36615	T	0.2	-50.5295	16.5763	0.84648	1.0:0.0:0.0:0.0	.	326	Q9NZN3	EHD3_HUMAN	Y	326	ENSP00000327116:N326Y	ENSP00000327116:N326Y	N	+	1	0	EHD3	31337979	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.242000	0.72376	2.317000	0.78254	0.459000	0.35465	AAC		0.552	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600	
DPP10	57628	broad.mit.edu	37	2	116497460	116497460	+	Silent	SNP	G	G	A	rs146251151		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:116497460G>A	ENST00000410059.1	+	9	1323	c.843G>A	c.(841-843)ccG>ccA	p.P281P	DPP10_ENST00000310323.8_Silent_p.P274P|DPP10_ENST00000393147.2_Silent_p.P285P|DPP10_ENST00000409163.1_Silent_p.P231P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	281						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCAGTATCCGTATCCTAAGG	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		21188	0.001		0.0	False		,,,				2504	0.0					uc002tla.1																			0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(841-843)CCG>CCA		dipeptidyl peptidase 10 isoform long		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	212.0	190.0	198.0		822,855,693,831,843	-5.7	0.9	2	dbSNP_134	198	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DPP10	NM_001004360.3,NM_001178034.1,NM_001178036.1,NM_001178037.1,NM_020868.3	,,,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,,,	274/790,285/801,231/747,277/793,281/797	116497460	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116497460G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.843G>A	2.37:g.116497460G>A						DPP10_uc002tlb.1_Silent_p.P231P|DPP10_uc002tlc.1_Silent_p.P277P|DPP10_uc002tle.2_Silent_p.P285P|DPP10_uc002tlf.1_Silent_p.P274P	p.P281P	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			9	1300	+			281			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.843G>A	CCDS46400.1																																																																																				0.423	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
UGGT1	56886	broad.mit.edu	37	2	128939777	128939777	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:128939777G>T	ENST00000259253.6	+	37	4204	c.4157G>T	c.(4156-4158)tGt>tTt	p.C1386F	UGGT1_ENST00000375990.3_Missense_Mutation_p.C1362F	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1386	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACTCCTTTCTGTGACAGCCGA	0.418																																						uc002tps.2																			0				ovary(1)	1						c.(4156-4158)TGT>TTT		UDP-glucose ceramide glucosyltransferase-like 1							124.0	126.0	125.0					2																	128939777		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128939777G>T	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4157G>T	2.37:g.128939777G>T	ENSP00000259253:p.Cys1386Phe					UGGT1_uc002tpr.2_Missense_Mutation_p.C1362F	p.C1386F	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			37	4335	+			1386			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.4157G>T	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699867	0.88924	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.52754	0.65;0.65	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.80711	0.4675	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87002	0.2117	9	.	.	.	.	19.577	0.95449	0.0:0.0:1.0:0.0	.	1386	Q9NYU2	UGGG1_HUMAN	F	1362;1386	ENSP00000365158:C1362F;ENSP00000259253:C1386F	.	C	+	2	0	UGGT1	128656247	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.420000	0.97426	2.693000	0.91896	0.650000	0.86243	TGT		0.418	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
GCA	25801	broad.mit.edu	37	2	163204170	163204170	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:163204170G>C	ENST00000437150.2	+	2	271	c.110G>C	c.(109-111)gGa>gCa	p.G37A	GCA_ENST00000429691.2_Missense_Mutation_p.G18A|GCA_ENST00000473240.1_3'UTR|GCA_ENST00000233612.4_Missense_Mutation_p.G18A	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	37					membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						CTCCTCGATGGATACTCTGGG	0.463																																						uc002ucg.2																			0					0						c.(109-111)GGA>GCA		grancalcin, EF-hand calcium binding protein							95.0	86.0	89.0					2																	163204170		2203	4300	6503	SO:0001583	missense	25801				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	g.chr2:163204170G>C	M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"""EF-hand domain containing"""	15990	protein-coding gene	gene with protein product		607030	"""grancalcin, EF-hand calcium-binding protein"""			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.110G>C	2.37:g.163204170G>C	ENSP00000394842:p.Gly37Ala					GCA_uc010zcu.1_Missense_Mutation_p.G18A	p.G37A	NM_012198	NP_036330	P28676	GRAN_HUMAN			2	286	+			37					B2R5X3|Q53TB5|Q59EP3	Missense_Mutation	SNP	ENST00000437150.2	37	c.110G>C	CCDS2218.1	.	.	.	.	.	.	.	.	.	.	G	9.045	0.990536	0.18966	.	.	ENSG00000115271	ENST00000446271;ENST00000429691;ENST00000437150;ENST00000453113;ENST00000233612	D;T;T;D;T	0.92099	-2.97;0.4;-1.05;-2.09;-1.11	4.99	3.13	0.36017	.	10.390100	0.05093	U	0.485609	D	0.89945	0.6862	L	0.46157	1.445	0.47065	D	0.999301	B	0.33694	0.421	B	0.33750	0.169	T	0.72293	-0.4336	10	0.31617	T	0.26	.	11.747	0.51825	0.0731:0.0:0.8023:0.1246	.	37	P28676	GRAN_HUMAN	A	63;18;37;18;18	ENSP00000393218:G63A;ENSP00000412899:G18A;ENSP00000394842:G37A;ENSP00000403805:G18A;ENSP00000233612:G18A	ENSP00000233612:G18A	G	+	2	0	GCA	162912416	1.000000	0.71417	0.014000	0.15608	0.002000	0.02628	2.889000	0.48601	0.221000	0.20879	-1.094000	0.02160	GGA		0.463	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198	
TTN	7273	broad.mit.edu	37	2	179598493	179598493	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:179598493A>G	ENST00000591111.1	-	51	14896	c.14672T>C	c.(14671-14673)aTc>aCc	p.I4891T	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I5208T|TTN_ENST00000342992.6_Missense_Mutation_p.I3964T|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12283	Ig-like 29.				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)			GTCTTCTCTGATGACCTCTTG	0.448																																						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.(11890-11892)ATC>ACC		titin isoform N2-A							193.0	183.0	186.0					2																	179598493		1921	4141	6062	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598493A>G	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.14672T>C	2.37:g.179598493A>G	ENSP00000465570:p.Ile4891Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I625T	p.I3964T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		50	12115	-			4891					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.11891T>C		.	.	.	.	.	.	.	.	.	.	A	13.66	2.302775	0.40795	.	.	ENSG00000155657	ENST00000342992	T	0.68903	-0.36	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75347	0.3837	M	0.87971	2.92	0.80722	D	1	B	0.25048	0.117	B	0.33295	0.161	T	0.76242	-0.3031	9	0.87932	D	0	.	16.1328	0.81454	1.0:0.0:0.0:0.0	.	4891	Q8WZ42	TITIN_HUMAN	T	3964	ENSP00000343764:I3964T	ENSP00000343764:I3964T	I	-	2	0	TTN	179306738	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	9.339000	0.96797	2.208000	0.71279	0.533000	0.62120	ATC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
GLS	2744	broad.mit.edu	37	2	191765419	191765419	+	Splice_Site	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:191765419G>A	ENST00000320717.3	+	4	993	c.735G>A	c.(733-735)aaG>aaA	p.K245K	GLS_ENST00000338435.4_Splice_Site_p.K245K	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	245					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	CTGGAGGAAAGGTAATGCTTT	0.323																																						uc002usf.2																			0				ovary(1)|skin(1)	2						c.(733-735)AAG>AAA		glutaminase precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						118.0	113.0	115.0					2																	191765419		2203	4299	6502	SO:0001630	splice_region_variant	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191765419G>A	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.735+1G>A	2.37:g.191765419G>A						GLS_uc002use.2_Silent_p.K245K	p.K245K	NM_014905	NP_055720	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		4	999	+			245					Q9UL05|Q9UL06|Q9UL07|Q9UN40	Silent	SNP	ENST00000320717.3	37	c.735G>A	CCDS2308.1																																																																																				0.323	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2		Silent
ZNFX1	57169	broad.mit.edu	37	20	47887010	47887010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr20:47887010G>A	ENST00000396105.1	-	3	1585	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	ZNFX1_ENST00000371752.1_Nonsense_Mutation_p.R447*|ZNFX1_ENST00000371754.4_Nonsense_Mutation_p.R447*	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	447							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAGAGCAATCGTTTGGAATTC	0.468																																						uc002xui.2																			0				ovary(2)	2						c.(1339-1341)CGA>TGA		zinc finger, NFX1-type containing 1							151.0	147.0	149.0					20																	47887010		2203	4300	6503	SO:0001587	stop_gained	57169						metal ion binding	g.chr20:47887010G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1339C>T	20.37:g.47887010G>A	ENSP00000379412:p.Arg447*						p.R447*	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1586	-			447					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Nonsense_Mutation	SNP	ENST00000396105.1	37	c.1339C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	36	5.903197	0.97087	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	.	.	.	5.85	2.73	0.32206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6853	8.1639	0.31215	0.0707:0.0:0.5318:0.3975	.	.	.	.	X	447;447;447;447;447;251	.	ENSP00000360809:R447X	R	-	1	2	ZNFX1	47320417	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.329000	0.43876	0.813000	0.34350	-0.140000	0.14226	CGA		0.468	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035	
HELZ2	85441	broad.mit.edu	37	20	62200284	62200284	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr20:62200284G>A	ENST00000467148.1	-	5	1226	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	386					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCCCGGAGGCGCGAAGAGCAT	0.677																																						uc002yfm.2																			0				central_nervous_system(2)	2						c.(1156-1158)GCG>GTG		PPAR-alpha interacting complex protein 285							47.0	47.0	47.0					20																	62200284		2181	4271	6452	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62200284G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1157C>T	20.37:g.62200284G>A	ENSP00000417401:p.Ala386Val					PRIC285_uc002yfl.1_5'Flank	p.A386V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		6	2049	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		386					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.1157C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907687	0.33721	.	.	ENSG00000130589	ENST00000467148	T	0.80738	-1.41	4.8	2.85	0.33270	.	0.552311	0.17766	N	0.162744	T	0.73536	0.3599	M	0.61703	1.905	0.09310	N	1	P	0.47253	0.892	B	0.35413	0.202	T	0.64964	-0.6283	10	0.62326	D	0.03	-16.6524	10.7185	0.46026	0.1562:0.0:0.8438:0.0	.	386	Q9BYK8	PR285_HUMAN	V	386	ENSP00000417401:A386V	ENSP00000417401:A386V	A	-	2	0	RP4-697K14.7	61670728	0.968000	0.33430	0.001000	0.08648	0.178000	0.23041	4.336000	0.59304	0.469000	0.27268	0.462000	0.41574	GCG		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335	
SPECC1L	23384	broad.mit.edu	37	22	24807598	24807598	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr22:24807598C>T	ENST00000314328.9	+	15	3415	c.3130C>T	c.(3130-3132)Ctg>Ttg	p.L1044L	SPECC1L_ENST00000437398.1_Silent_p.L1044L|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Intron	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	1044	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GAATGATGGGCTGGCCTTCTG	0.493																																						uc002zzw.2																			0					0						c.(3130-3132)CTG>TTG		cytospin A							134.0	118.0	123.0					22																	24807598		2203	4300	6503	SO:0001819	synonymous_variant	23384				cell cycle|cell division			g.chr22:24807598C>T	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.3130C>T	22.37:g.24807598C>T						CYTSA_uc002zzv.3_Silent_p.L1044L|CYTSA_uc011ajq.1_Intron	p.L1044L	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN			15	3437	+			1044			CH.		B7Z758|F5H1H6|O15081	Silent	SNP	ENST00000314328.9	37	c.3130C>T	CCDS33619.1																																																																																				0.493	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330	
RBMS3	27303	broad.mit.edu	37	3	30032601	30032601	+	Missense_Mutation	SNP	C	C	G	rs143165101	byFrequency	TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:30032601C>G	ENST00000383767.2	+	14	1544	c.1208C>G	c.(1207-1209)aCa>aGa	p.T403R	RBMS3_ENST00000452462.1_Missense_Mutation_p.T387R|RBMS3_ENST00000456853.1_Missense_Mutation_p.T400R|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000383766.2_Missense_Mutation_p.T385R|RBMS3_ENST00000273139.9_Missense_Mutation_p.T387R|RBMS3_ENST00000434693.2_Missense_Mutation_p.T402R|RBMS3_ENST00000396583.3_Missense_Mutation_p.T400R			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	403					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TCTCCCCAGACAGTGGCACCT	0.483																																						uc003cel.2																			0				central_nervous_system(1)	1						c.(1207-1209)ACA>AGA		RNA binding motif, single stranded interacting							201.0	164.0	176.0					3																	30032601		2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:30032601C>G	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1208C>G	3.37:g.30032601C>G	ENSP00000373277:p.Thr403Arg					RBMS3_uc003cek.2_Missense_Mutation_p.T387R|RBMS3_uc010hfq.2_Missense_Mutation_p.T400R|RBMS3_uc003cem.2_Missense_Mutation_p.T385R|RBMS3_uc010hfr.2_Missense_Mutation_p.T387R	p.T403R	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN			14	1438	+		Ovarian(412;0.0956)	403					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.1208C>G	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908481	0.72868	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T	0.26957	1.76;1.71;1.76;1.72;1.83;1.7;1.71	5.3	5.3	0.74995	.	0.059794	0.64402	D	0.000003	T	0.15349	0.0370	N	0.08118	0	0.58432	D	0.999997	B;P;P;B	0.39282	0.001;0.666;0.478;0.346	B;B;B;B	0.36666	0.003;0.23;0.161;0.084	T	0.10613	-1.0622	9	.	.	.	.	18.9853	0.92767	0.0:1.0:0.0:0.0	.	387;400;385;403	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	R	402;400;403;387;385;387;400	ENSP00000395592:T402R;ENSP00000379828:T400R;ENSP00000373277:T403R;ENSP00000273139:T387R;ENSP00000373276:T385R;ENSP00000397926:T387R;ENSP00000400519:T400R	.	T	+	2	0	RBMS3	30007605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.305000	0.65750	2.469000	0.83416	0.655000	0.94253	ACA		0.483	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	
CCR9	10803	broad.mit.edu	37	3	45942421	45942421	+	Silent	SNP	G	G	A	rs372974725		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:45942421G>A	ENST00000357632.2	+	3	321	c.141G>A	c.(139-141)gcG>gcA	p.A47A	LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Silent_p.A35A|CCR9_ENST00000422395.1_Missense_Mutation_p.R76Q|LZTFL1_ENST00000539217.1_Intron|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Silent_p.A35A	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	47					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGCAGTTTGCGAGCCATTTCC	0.468																																						uc003coz.1																			0				ovary(2)|breast(1)	3						c.(139-141)GCG>GCA		chemokine (C-C motif) receptor 9 isoform A		G	,	0,4406		0,0,2203	182.0	154.0	164.0		105,141	-10.3	0.0	3		164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CCR9	NM_006641.3,NM_031200.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	35/358,47/370	45942421	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45942421G>A	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.141G>A	3.37:g.45942421G>A						LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.1_Silent_p.A35A|CCR9_uc003cpa.1_Silent_p.A35A	p.A47A	NM_031200	NP_112477	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	298	+			47			Extracellular (Potential).		Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	ENST00000357632.2	37	c.141G>A	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	G	9.436	1.086890	0.20390	0.0	1.16E-4	ENSG00000173585	ENST00000422395	T	0.32753	1.44	5.14	-10.3	0.00346	.	.	.	.	.	T	0.26846	0.0657	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.56571	-0.7957	6	0.87932	D	0	.	2.963	0.05899	0.3287:0.341:0.2182:0.1121	.	.	.	.	Q	76	ENSP00000393267:R76Q	ENSP00000393267:R76Q	R	+	2	0	CCR9	45917425	0.000000	0.05858	0.009000	0.14445	0.702000	0.40608	-3.683000	0.00394	-1.687000	0.01437	0.563000	0.77884	CGA		0.468	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2		
STAB1	23166	broad.mit.edu	37	3	52540233	52540233	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:52540233G>A	ENST00000321725.6	+	17	1873	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	599	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.A599A(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCACCATGGCGAACCAGGTCC	0.622																																						uc003dej.2																			1	Substitution - coding silent(1)		large_intestine(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(1795-1797)GCG>GCA		stabilin 1 precursor							96.0	76.0	83.0					3																	52540233		2202	4300	6502	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52540233G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1797G>A	3.37:g.52540233G>A						STAB1_uc003dei.1_Silent_p.A599A	p.A599A	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	17	1871	+			599			Extracellular (Potential).|FAS1 2.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.1797G>A	CCDS33768.1																																																																																				0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
GCSAM	257144	broad.mit.edu	37	3	111852081	111852081	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:111852081G>A	ENST00000308910.4	-	0	71				GCSAM_ENST00000484193.1_De_novo_Start_OutOfFrame|RP11-757F18.5_ENST00000563632.1_RNA	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility						negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										CTGGCCACCCGTGCAGAGACA	0.557																																						uc003dys.1																			0					0						c.(-115--111)CACGG>CATGG		germinal center expressed transcript 2 isoform																																						257144					mitochondrion		g.chr3:111852081G>A	BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.-114C>T	3.37:g.111852081G>A						GCET2_uc003dyt.1_Translation_Start_Site		NM_152785	NP_689998	Q8N6F7	GCET2_HUMAN			1	37	-								C9JD17|C9JUG6	Translation_Start_Site	SNP	ENST00000308910.4	37	c.-113C>T	CCDS2964.1																																																																																				0.557	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785	
STXBP5L	9515	broad.mit.edu	37	3	120764376	120764376	+	Missense_Mutation	SNP	G	G	A	rs200925938		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:120764376G>A	ENST00000273666.6	+	5	735	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	STXBP5L_ENST00000472879.1_Missense_Mutation_p.R155Q|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R155Q|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R155Q|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R155Q	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	155					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R155L(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAATTTAACCGGGAACGGTAA	0.358													g|||	1	0.000199681	0.0008	0.0	5008	,	,		16976	0.0		0.0	False		,,,				2504	0.0					uc003eec.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)	9						c.(463-465)CGG>CAG		syntaxin binding protein 5-like							125.0	123.0	124.0					3																	120764376		1810	4071	5881	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120764376G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.464G>A	3.37:g.120764376G>A	ENSP00000273666:p.Arg155Gln					STXBP5L_uc011bji.1_Missense_Mutation_p.R155Q	p.R155Q	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	5	604	+			155					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.464G>A	CCDS43137.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	26.7	4.764100	0.89932	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.54279	0.58;1.59;0.58;0.58;1.59;1.59	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	M	0.78637	2.42	0.48511	D	0.999668	D;D	0.76494	0.957;0.999	B;D	0.72625	0.223;0.978	T	0.67288	-0.5708	10	0.27785	T	0.31	-16.4709	11.6675	0.51383	0.0807:0.0:0.9193:0.0	.	155;155	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	Q	155	ENSP00000273666:R155Q;ENSP00000420019:R155Q;ENSP00000419627:R155Q;ENSP00000420287:R155Q;ENSP00000420666:R155Q;ENSP00000420167:R155Q	ENSP00000273666:R155Q	R	+	2	0	STXBP5L	122247066	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.036000	0.76524	2.543000	0.85770	0.655000	0.94253	CGG		0.358	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
MECOM	2122	broad.mit.edu	37	3	168833869	168833869	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:168833869C>T	ENST00000464456.1	-	7	2427	c.1227G>A	c.(1225-1227)tcG>tcA	p.S409S	MECOM_ENST00000472280.1_Silent_p.S410S|MECOM_ENST00000468789.1_Silent_p.S409S|MECOM_ENST00000460814.1_Silent_p.S409S|MECOM_ENST00000494292.1_Silent_p.S597S|MECOM_ENST00000392736.3_Silent_p.S409S|MECOM_ENST00000433243.2_Silent_p.S410S|MECOM_ENST00000264674.3_Silent_p.S474S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GATCAGAGCCCGAGGTTGTTT	0.423																																						uc003ffi.3																			0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(1225-1227)TCG>TCA		MDS1 and EVI1 complex locus isoform b							271.0	237.0	248.0					3																	168833869		2203	4300	6503	SO:0001819	synonymous_variant	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168833869C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1227G>A	3.37:g.168833869C>T						MECOM_uc010hwk.1_Silent_p.S432S|MECOM_uc003ffj.3_Silent_p.S474S|MECOM_uc011bpi.1_Silent_p.S410S|MECOM_uc003ffn.3_Silent_p.S409S|MECOM_uc003ffk.2_Silent_p.S409S|MECOM_uc003ffl.2_Silent_p.S569S|MECOM_uc011bpj.1_Silent_p.S597S|MECOM_uc011bpk.1_Silent_p.S399S|MECOM_uc010hwn.2_Silent_p.S597S	p.S409S	NM_005241	NP_005232	Q03112	EVI1_HUMAN			7	1496	-			409					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.1227G>A	CCDS54669.1																																																																																				0.423	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	
ACAP2	23527	broad.mit.edu	37	3	195102729	195102729	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:195102729A>G	ENST00000326793.6	-	3	364	c.134T>C	c.(133-135)aTg>aCg	p.M45T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	45	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AGTATCAATCATTGCAATACA	0.343																																						uc003fun.3																			0				large_intestine(1)|ovary(1)	2						c.(133-135)ATG>ACG		centaurin, beta 2							65.0	66.0	66.0					3																	195102729		2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195102729A>G		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.134T>C	3.37:g.195102729A>G	ENSP00000324287:p.Met45Thr					ACAP2_uc003fuo.2_Missense_Mutation_p.M45T	p.M45T	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			3	375	-			45			BAR.		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.134T>C	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.857466	0.71834	.	.	ENSG00000114331	ENST00000326793;ENST00000439666	T;T	0.04502	6.86;3.61	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.17195	0.0413	M	0.64997	1.995	0.80722	D	1	D;D	0.67145	0.96;0.996	D;D	0.67900	0.922;0.954	T	0.00234	-1.1893	10	0.48119	T	0.1	.	13.7187	0.62714	1.0:0.0:0.0:0.0	.	1;45	C9J8L1;Q15057	.;ACAP2_HUMAN	T	45;1	ENSP00000324287:M45T;ENSP00000411336:M1T	ENSP00000324287:M45T	M	-	2	0	ACAP2	196584018	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	8.196000	0.89725	2.123000	0.65237	0.460000	0.39030	ATG		0.343	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287	
TNK2	10188	broad.mit.edu	37	3	195597005	195597006	+	Frame_Shift_Ins	INS	-	-	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:195597005_195597006insG	ENST00000333602.6	-	11	2139_2140	c.1522_1523insC	c.(1522-1524)cagfs	p.Q508fs	TNK2_ENST00000392400.1_Frame_Shift_Ins_p.Q508fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.Q571fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.Q540fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	508				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCCTAGATGCTGGGGGGGCCGG	0.614																																						uc003fvu.1																			0				ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(1522-1524)CAGfs		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195597005_195597006insG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1523dupC	3.37:g.195597012_195597012dupG	ENSP00000329425:p.Gln508fs					TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Frame_Shift_Ins_p.Q18fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.Q540fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.Q571fs|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Frame_Shift_Ins_p.Q338fs	p.Q508fs	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	11	2065_2066	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	508	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Ins	INS	ENST00000333602.6	37	c.1522_1523insC	CCDS33928.1																																																																																				0.614	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781	
GPR78	27201	broad.mit.edu	37	4	8583361	8583361	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr4:8583361G>A	ENST00000382487.4	+	1	1069	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	218					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CGCGCTGCTCGCCGACCTGCA	0.687																																						uc003glk.2																			0				central_nervous_system(4)|ovary(2)	6						c.(652-654)GCC>ACC		G protein-coupled receptor 78							7.0	7.0	7.0					4																	8583361		2145	4199	6344	SO:0001583	missense	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8583361G>A	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.652G>A	4.37:g.8583361G>A	ENSP00000371927:p.Ala218Thr					CPZ_uc003gll.2_RNA	p.A218T	NM_080819	NP_543009	Q96P69	GPR78_HUMAN			1	1071	+			218			Cytoplasmic (Potential).		Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.652G>A	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	G	3.183	-0.167500	0.06461	.	.	ENSG00000155269	ENST00000382487	T	0.61980	0.06	2.05	0.081	0.14423	GPCR, rhodopsin-like superfamily (1);	0.090064	0.43579	U	0.000548	T	0.27098	0.0664	N	0.02011	-0.69	0.23243	N	0.998059	B	0.23249	0.082	B	0.17098	0.017	T	0.23691	-1.0181	10	0.14252	T	0.57	.	7.2807	0.26310	0.2292:0.0:0.7708:0.0	.	218	Q96P69	GPR78_HUMAN	T	218	ENSP00000371927:A218T	ENSP00000371927:A218T	A	+	1	0	GPR78	8634261	1.000000	0.71417	0.000000	0.03702	0.028000	0.11728	1.881000	0.39638	-0.939000	0.03709	-0.657000	0.03884	GCC		0.687	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1		
FGB	2244	broad.mit.edu	37	4	155487823	155487823	+	Splice_Site	SNP	A	A	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr4:155487823A>T	ENST00000302068.4	+	3	552	c.489A>T	c.(487-489)aaA>aaT	p.K163N	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	163		Cleavage; by plasmin; to break down fibrin clots.			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)	AGCAAGTAAAAGGTAGATATC	0.403																																					NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.3																			0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(487-489)AAA>AAT		fibrinogen, beta chain preproprotein	Sucralfate(DB00364)						109.0	110.0	110.0					4																	155487823		2203	4300	6503	SO:0001630	splice_region_variant	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.chr4:155487823A>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.490+1A>T	4.37:g.155487823A>T						FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.K160N|FGB_uc010ipv.2_Missense_Mutation_p.K101N|FGB_uc010ipw.2_Missense_Mutation_p.K160N|FGB_uc003ioc.3_Intron	p.K163N	NM_005141	NP_005132	P02675	FIBB_HUMAN			3	528	+	all_hematologic(180;0.215)	Renal(120;0.0458)	163			Potential.	Cleavage; by plasmin; to break down fibrin clots.	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.489A>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.648462	0.29336	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	D	0.82081	-1.57	5.25	4.07	0.47477	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.760251	0.13385	N	0.391830	T	0.70500	0.3231	L	0.27053	0.805	0.80722	D	1	B;B	0.32731	0.382;0.005	B;B	0.31686	0.134;0.007	T	0.60089	-0.7331	10	0.17832	T	0.49	.	8.932	0.35677	0.9141:0.0:0.0859:0.0	.	146;163	B4E1D3;P02675	.;FIBB_HUMAN	N	163;146	ENSP00000306099:K163N	ENSP00000306099:K163N	K	+	3	2	FGB	155707273	0.998000	0.40836	0.836000	0.33094	0.950000	0.60333	4.993000	0.63895	0.948000	0.37687	0.455000	0.32223	AAA		0.403	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141	Missense_Mutation
C5orf42	65250	broad.mit.edu	37	5	37167302	37167302	+	Missense_Mutation	SNP	T	T	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:37167302T>A	ENST00000508244.1	-	34	7340	c.7247A>T	c.(7246-7248)cAa>cTa	p.Q2416L	C5orf42_ENST00000274258.7_Missense_Mutation_p.Q1296L|C5orf42_ENST00000425232.2_Missense_Mutation_p.Q2416L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2416						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGGATAAGTTGTGTTTTTTT	0.313																																						uc011cpa.1																			0				ovary(4)|breast(2)|skin(1)	7						c.(7246-7248)CAA>CTA		hypothetical protein LOC65250							109.0	94.0	99.0					5																	37167302		2203	4299	6502	SO:0001583	missense	65250							g.chr5:37167302T>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7247A>T	5.37:g.37167302T>A	ENSP00000421690:p.Gln2416Leu					C5orf42_uc011coy.1_Missense_Mutation_p.Q916L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.Q1491L	p.Q2416L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		35	7478	-	all_lung(31;0.000616)		2416					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.7247A>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	13.14	2.149337	0.37923	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.25912	1.8;1.8;1.77;1.78	5.5	4.34	0.51931	.	0.290888	0.25078	N	0.033302	T	0.34483	0.0899	L	0.50333	1.59	0.24725	N	0.993126	P;D	0.56035	0.949;0.974	P;P	0.53954	0.602;0.738	T	0.12656	-1.0539	10	0.62326	D	0.03	.	9.706	0.40216	0.0:0.0781:0.0:0.9219	.	2416;1296	E9PH94;Q9H799	.;CE042_HUMAN	L	2416;2416;1296;1464;1296	ENSP00000421690:Q2416L;ENSP00000389014:Q2416L;ENSP00000274258:Q1296L;ENSP00000424223:Q1464L	ENSP00000274258:Q1296L	Q	-	2	0	C5orf42	37203059	0.998000	0.40836	0.064000	0.19789	0.201000	0.24016	3.564000	0.53791	0.930000	0.37217	0.533000	0.62120	CAA		0.313	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
C7	730	broad.mit.edu	37	5	40976859	40976859	+	Silent	SNP	G	G	A	rs367904690		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:40976859G>A	ENST00000313164.9	+	16	2441	c.2082G>A	c.(2080-2082)ccG>ccA	p.P694P	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	694					cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				TAGAAAATCCGTTAACACAGG	0.433																																						uc003jmh.2																			0					0						c.(2080-2082)CCG>CCA		complement component 7 precursor		G		0,3892		0,0,1946	77.0	77.0	77.0		2082	-0.7	0.0	5		77	1,8277		0,1,4138	no	coding-synonymous	C7	NM_000587.2		0,1,6084	AA,AG,GG		0.0121,0.0,0.0082		694/844	40976859	1,12169	1946	4139	6085	SO:0001819	synonymous_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40976859G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2082G>A	5.37:g.40976859G>A						C7_uc011cpn.1_RNA	p.P694P	NM_000587	NP_000578	P10643	CO7_HUMAN			16	2196	+		Ovarian(839;0.0112)	694					Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	c.2082G>A	CCDS47201.1																																																																																				0.433	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1		
ACTBL2	345651	broad.mit.edu	37	5	56778318	56778318	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:56778318C>T	ENST00000423391.1	-	1	318	c.217G>A	c.(217-219)Gag>Aag	p.E73K	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	73						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		ACTCCATGCTCGATAGGATAC	0.542																																						uc003jrm.2																			0				ovary(3)	3						c.(217-219)GAG>AAG		actin, beta-like 2							102.0	82.0	89.0					5																	56778318		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778318C>T		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.217G>A	5.37:g.56778318C>T	ENSP00000416706:p.Glu73Lys						p.E73K	NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	319	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	73					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.217G>A	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299341	0.40694	.	.	ENSG00000169067	ENST00000423391	D	0.97328	-4.34	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000004	D	0.97247	0.9100	M	0.79123	2.44	0.58432	D	0.999991	P	0.42375	0.778	P	0.47864	0.559	D	0.98057	1.0391	10	0.87932	D	0	.	15.3463	0.74340	0.0:1.0:0.0:0.0	.	73	Q562R1	ACTBL_HUMAN	K	73	ENSP00000416706:E73K	ENSP00000416706:E73K	E	-	1	0	ACTBL2	56814075	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	7.645000	0.83430	2.475000	0.83589	0.563000	0.77884	GAG		0.542	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992	
GPR98	84059	broad.mit.edu	37	5	89990447	89990447	+	Missense_Mutation	SNP	G	G	A	rs201214794	byFrequency	TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:89990447G>A	ENST00000405460.2	+	33	7970	c.7874G>A	c.(7873-7875)cGt>cAt	p.R2625H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2625	Calx-beta 18. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCGAATGGCGTGTTGTTGGT	0.473													G|||	3	0.000599042	0.0	0.0	5008	,	,		16405	0.0		0.002	False		,,,				2504	0.001					uc003kju.2																			0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(7873-7875)CGT>CAT		G protein-coupled receptor 98 precursor		G	HIS/ARG	2,4056		0,2,2027	147.0	153.0	151.0		7874	5.8	1.0	5		151	26,8320		0,26,4147	yes	missense	GPR98	NM_032119.3	29	0,28,6174	AA,AG,GG		0.3115,0.0493,0.2257	benign	2625/6307	89990447	28,12376	2029	4173	6202	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89990447G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7874G>A	5.37:g.89990447G>A	ENSP00000384582:p.Arg2625His					GPR98_uc003kjt.2_Missense_Mutation_p.R331H|GPR98_uc003kjv.2_Missense_Mutation_p.R225H	p.R2625H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7970	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2625			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.7874G>A	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.77|12.77	2.038215|2.038215	0.35989|0.35989	4.93E-4|4.93E-4	0.003115|0.003115	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.32753|.	1.44|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Na-Ca exchanger/integrin-beta4 (2);|.	0.193298|.	0.56097|.	D|.	0.000040|.	T|T	0.58438|0.58438	0.2122|0.2122	L|L	0.35793|0.35793	1.09|1.09	0.80722|0.80722	D|D	1|1	B;B|.	0.20261|.	0.043;0.043|.	B;B|.	0.27380|.	0.054;0.079|.	T|T	0.52586|0.52586	-0.8556|-0.8556	10|5	0.48119|.	T|.	0.1|.	.|.	15.25|15.25	0.73536|0.73536	0.069:0.0:0.931:0.0|0.069:0.0:0.931:0.0	.|.	2625;2625|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	H|M	2625|191	ENSP00000384582:R2625H|.	ENSP00000296619:R2625H|.	R|V	+|+	2|1	0|0	GPR98|GPR98	90026203|90026203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.772000|0.772000	0.43724|0.43724	2.623000|2.623000	0.46435|0.46435	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.473	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
PCDHA2	56146	broad.mit.edu	37	5	140176747	140176747	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:140176747C>T	ENST00000526136.1	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA2_ENST00000378132.1_Missense_Mutation_p.A733V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A733V|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	733					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCGCGCCAGGAAAG	0.682																																						uc003lhd.2																			0				ovary(4)	4						c.(2197-2199)GCG>GTG		protocadherin alpha 2 isoform 1 precursor							48.0	50.0	50.0					5																	140176747		2203	4299	6502	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140176747C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2198C>T	5.37:g.140176747C>T	ENSP00000431748:p.Ala733Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A733V|PCDHA2_uc011czy.1_Missense_Mutation_p.A733V	p.A733V	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2304	+			733			Cytoplasmic (Potential).		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2198C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	N	2.817	-0.245675	0.05906	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.76709	-1.04;-1.04;-1.04	4.0	-2.0	0.07433	.	0.702690	0.11252	N	0.583549	T	0.62307	0.2417	L	0.35341	1.055	0.09310	N	1	B;B;B	0.17268	0.021;0.007;0.021	B;B;B	0.12837	0.008;0.002;0.005	T	0.41016	-0.9532	10	0.15952	T	0.53	.	9.476	0.38871	0.0:0.5254:0.2214:0.2532	.	733;733;733	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	733	ENSP00000430584:A733V;ENSP00000367372:A733V;ENSP00000431748:A733V	ENSP00000367372:A733V	A	+	2	0	PCDHA2	140156931	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.060000	0.01392	-1.208000	0.02634	-2.635000	0.00153	GCG		0.682	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
PCDHGB1	56104	broad.mit.edu	37	5	140730079	140730079	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:140730079C>T	ENST00000523390.1	+	1	252	c.252C>T	c.(250-252)aaC>aaT	p.N84N	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	84	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N84N(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTAGTGAACGGTAGGATAG	0.473											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljo.1																			2	Substitution - coding silent(2)		central_nervous_system(2)		0						c.(250-252)AAC>AAT		protocadherin gamma subfamily B, 1 isoform 1							94.0	91.0	92.0					5																	140730079		1866	4091	5957	SO:0001819	synonymous_variant	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140730079C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.252C>T	5.37:g.140730079C>T			OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.N84N	p.N84N	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	252	+			84			Cadherin 1.|Extracellular (Potential).		Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.252C>T	CCDS54923.1																																																																																				0.473	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922	
FAM71B	153745	broad.mit.edu	37	5	156592869	156592869	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:156592869C>T	ENST00000302938.4	-	1	406	c.311G>A	c.(310-312)cGg>cAg	p.R104Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	104						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTGGCAAACCGGCCCCATCT	0.542																																						uc003lwn.2																			0				ovary(4)|pancreas(1)|skin(1)	6						c.(310-312)CGG>CAG		family with sequence similarity 71, member B							70.0	71.0	71.0					5																	156592869		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592869C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.311G>A	5.37:g.156592869C>T	ENSP00000305596:p.Arg104Gln						p.R104Q	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	411	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	104					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.311G>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	0.441	-0.898328	0.02472	.	.	ENSG00000170613	ENST00000302938	T	0.03607	3.87	4.67	1.82	0.25136	.	1.041460	0.07653	N	0.932348	T	0.01421	0.0046	N	0.01800	-0.715	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47368	-0.9123	10	0.08179	T	0.78	-0.9076	4.2326	0.10610	0.0:0.6016:0.1924:0.206	.	104	Q8TC56	FA71B_HUMAN	Q	104	ENSP00000305596:R104Q	ENSP00000305596:R104Q	R	-	2	0	FAM71B	156525447	0.000000	0.05858	0.028000	0.17463	0.160000	0.22226	-0.281000	0.08456	0.619000	0.30197	0.563000	0.77884	CGG		0.542	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
RANBP17	64901	broad.mit.edu	37	5	170725815	170725815	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:170725815C>T	ENST00000523189.1	+	28	3384	c.3220C>T	c.(3220-3222)Cgc>Tgc	p.R1074C	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1074					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAGGCGTTGCGCAGTGATGG	0.502			T	TRD@	ALL																																	uc003mba.2				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				ovary(2)|central_nervous_system(1)	3						c.(3220-3222)CGC>TGC		RAN binding protein 17							129.0	110.0	116.0					5																	170725815		2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170725815C>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.3220C>T	5.37:g.170725815C>T	ENSP00000427975:p.Arg1074Cys					RANBP17_uc003mbb.2_Missense_Mutation_p.R399C|RANBP17_uc010jjs.2_RNA	p.R1074C	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		28	3236	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1074					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.3220C>T	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674564	0.47781	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.26810	1.71	5.69	4.83	0.62350	.	0.543666	0.18279	N	0.146090	T	0.34861	0.0912	L	0.40543	1.245	0.45183	D	0.998196	D	0.71674	0.998	P	0.55260	0.772	T	0.08722	-1.0708	10	0.72032	D	0.01	-10.0589	12.9236	0.58247	0.0:0.9243:0.0:0.0757	.	1074	Q9H2T7	RBP17_HUMAN	C	1074;504	ENSP00000427975:R1074C	ENSP00000427975:R1074C	R	+	1	0	RANBP17	170658420	1.000000	0.71417	0.697000	0.30258	0.006000	0.05464	4.255000	0.58804	1.420000	0.47138	-0.126000	0.14955	CGC		0.502	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	
FBXW11	23291	broad.mit.edu	37	5	171299943	171299943	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:171299943G>A	ENST00000265094.5	-	9	1347	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	FBXW11_ENST00000393802.2_Missense_Mutation_p.R370W|FBXW11_ENST00000425623.2_Missense_Mutation_p.R372W|FBXW11_ENST00000296933.6_Missense_Mutation_p.R391W	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	404					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAATGCCCCGCTTGTGCCCA	0.463																																						uc003mbm.1																			0				ovary(1)|breast(1)	2						c.(1210-1212)CGG>TGG		F-box and WD repeat domain containing 11 isoform							93.0	81.0	85.0					5																	171299943		2203	4300	6503	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171299943G>A	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1210C>T	5.37:g.171299943G>A	ENSP00000265094:p.Arg404Trp					FBXW11_uc011dey.1_Missense_Mutation_p.R372W|FBXW11_uc003mbl.1_Missense_Mutation_p.R391W|FBXW11_uc003mbn.1_Missense_Mutation_p.R370W	p.R404W	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		9	1581	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	404			WD 5.		B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.1210C>T	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871284	0.91587	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67249	0.2873	M	0.75884	2.315	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.998;0.996	T	0.69716	-0.5070	10	0.87932	D	0	-5.4396	19.3046	0.94155	0.0:0.0:1.0:0.0	.	372;370;404;391	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	W	391;404;370;372	ENSP00000296933:R391W;ENSP00000265094:R404W;ENSP00000377391:R370W;ENSP00000444929:R372W	ENSP00000265094:R404W	R	-	1	2	FBXW11	171232548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.897000	0.87356	2.652000	0.90054	0.655000	0.94253	CGG		0.463	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300	
BCLAF1	9774	broad.mit.edu	37	6	136597406	136597406	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr6:136597406C>A	ENST00000531224.1	-	5	1509	c.1257G>T	c.(1255-1257)caG>caT	p.Q419H	BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q417H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q417H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q419H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q417H|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	419					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AACTTTTACCCTGATCTGCGA	0.418																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			0				ovary(1)	1						c.(1255-1257)CAG>CAT		BCL2-associated transcription factor 1 isoform							259.0	253.0	255.0					6																	136597406		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597406C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1257G>T	6.37:g.136597406C>A	ENSP00000435210:p.Gln419His					BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.Q417H|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Q417H	p.Q419H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1510	-	Colorectal(23;0.24)		419					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1257G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171162	0.57584	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000015	T	0.11623	0.0283	L	0.46157	1.445	0.80722	D	1	B;B;B	0.24576	0.106;0.106;0.106	B;B;B	0.26310	0.068;0.068;0.068	T	0.02966	-1.1088	10	0.48119	T	0.1	-8.2723	19.2213	0.93797	0.0:1.0:0.0:0.0	.	417;417;419	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	H	419;417;419;417;417;419	ENSP00000435210:Q419H;ENSP00000229446:Q417H;ENSP00000435441:Q419H;ENSP00000434826:Q417H;ENSP00000376159:Q417H;ENSP00000431734:Q419H	ENSP00000229446:Q417H	Q	-	3	2	BCLAF1	136639099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.570000	0.60872	2.615000	0.88500	0.650000	0.86243	CAG		0.418	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
CDK13	8621	broad.mit.edu	37	7	40127783	40127783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:40127783C>T	ENST00000181839.4	+	12	3693	c.3088C>T	c.(3088-3090)Cag>Tag	p.Q1030*	CDK13_ENST00000340829.5_Nonsense_Mutation_p.Q1030*	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1030					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGACAGAAGCAGATGGGCAT	0.423																																						uc003thh.3																			0				lung(2)|skin(2)|ovary(1)	5						c.(3088-3090)CAG>TAG		cell division cycle 2-like 5 isoform 1							89.0	87.0	88.0					7																	40127783		2203	4300	6503	SO:0001587	stop_gained	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40127783C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3088C>T	7.37:g.40127783C>T	ENSP00000181839:p.Gln1030*					CDK13_uc003thi.3_Nonsense_Mutation_p.Q1030*|CDK13_uc003thj.2_Nonsense_Mutation_p.Q81*	p.Q1030*	NM_003718	NP_003709	Q14004	CDK13_HUMAN			12	3370	+			1030					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Nonsense_Mutation	SNP	ENST00000181839.4	37	c.3088C>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	42	9.807971	0.99268	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.5515	19.9186	0.97074	0.0:1.0:0.0:0.0	.	.	.	.	X	1030	.	.	Q	+	1	0	CDK13	40094308	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.765000	0.85310	2.788000	0.95919	0.585000	0.79938	CAG		0.423	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	
ABCA13	154664	broad.mit.edu	37	7	48287917	48287917	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:48287917C>G	ENST00000435803.1	+	14	1765	c.1741C>G	c.(1741-1743)Ctt>Gtt	p.L581V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	581					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGGCAGGAACTTGAGATGCA	0.428																																						uc003toq.2																			0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(1741-1743)CTT>GTT		ATP binding cassette, sub-family A (ABC1),							89.0	88.0	88.0					7																	48287917		1906	4121	6027	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48287917C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1741C>G	7.37:g.48287917C>G	ENSP00000411096:p.Leu581Val					ABCA13_uc010kyr.2_Missense_Mutation_p.L84V	p.L581V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			14	1766	+			581					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.1741C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	5.676	0.309251	0.10733	.	.	ENSG00000179869	ENST00000435803	D	0.88354	-2.37	4.28	-3.11	0.05299	.	0.322570	0.21383	N	0.075439	T	0.74688	0.3749	N	0.17082	0.46	0.09310	N	0.999994	B	0.17465	0.022	B	0.14023	0.01	T	0.61978	-0.6951	10	0.40728	T	0.16	.	7.2419	0.26102	0.3359:0.2146:0.4495:0.0	.	581	Q86UQ4	ABCAD_HUMAN	V	581	ENSP00000411096:L581V	ENSP00000411096:L581V	L	+	1	0	ABCA13	48258463	0.036000	0.19791	0.001000	0.08648	0.038000	0.13279	0.293000	0.19029	-0.270000	0.09285	-0.181000	0.13052	CTT		0.428	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		23	Substitution - Missense(23)	p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	central_nervous_system(23)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(865-867)GCC>GTC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
PSPH	5723	broad.mit.edu	37	7	56088826	56088826	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:56088826C>G	ENST00000395471.3	-	4	885	c.80G>C	c.(79-81)aGa>aCa	p.R27T	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.R27T			P78330	SERB_HUMAN	phosphoserine phosphatase	27					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCTTCTTCTCTGATGACCGT	0.448																																						uc003trg.2																			0				ovary(1)|skin(1)	2						c.(79-81)AGA>ACA		phosphoserine phosphatase							132.0	98.0	110.0					7																	56088826		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56088826C>G	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.80G>C	7.37:g.56088826C>G	ENSP00000378854:p.Arg27Thr					PSPH_uc003trh.2_Missense_Mutation_p.R27T|PSPH_uc003tri.2_Missense_Mutation_p.R27T|PSPH_uc003trj.2_Missense_Mutation_p.R56T	p.R27T	NM_004577	NP_004568	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	443	-	Breast(14;0.214)		27					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.80G>C	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	2.776	-0.254491	0.05829	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626;ENST00000419984;ENST00000421312	D;D;D;D;D	0.83914	-1.57;-1.57;-1.57;-1.78;-1.78	5.6	4.72	0.59763	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.155391	0.64402	D	0.000020	T	0.66674	0.2813	N	0.12831	0.26	0.48975	D	0.999736	B;B	0.02656	0.0;0.0	B;B	0.14578	0.005;0.011	T	0.59408	-0.7460	10	0.19147	T	0.46	-15.084	9.8776	0.41213	0.0:0.8455:0.0:0.1545	.	27;27	Q53EY1;P78330	.;SERB_HUMAN	T	27	ENSP00000275605:R27T;ENSP00000378854:R27T;ENSP00000398653:R27T;ENSP00000399660:R27T;ENSP00000390952:R27T	ENSP00000275605:R27T	R	-	2	0	PSPH	56056320	0.999000	0.42202	0.998000	0.56505	0.194000	0.23727	1.033000	0.30191	1.387000	0.46486	0.591000	0.81541	AGA		0.448	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577	
Unknown	0	broad.mit.edu	37	7	63680236	63680236	+	IGR	SNP	C	C	T	rs374391910		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:63680236C>T								GUSBP6 (69137 upstream) : ZNF679 (8615 downstream)																							AGAAACCCTACGCATGTGAAG	0.458													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19566	0.0		0.0	False		,,,				2504	0.0					uc011kdn.1																			0					0						c.(805-807)TAC>TAT		zinc finger protein 735		C		0,1384		0,0,692	20.0	20.0	20.0		807	-1.6	0.2	7		20	1,3181		0,1,1590	no	coding-synonymous	ZNF735	NM_001159524.1		0,1,2282	TT,TC,CC		0.0314,0.0,0.0219		269/413	63680236	1,4565	692	1591	2283	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63680236C>T																													7.37:g.63680236C>T							p.Y269Y	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			4	807	+			269			C2H2-type 5.			Silent	SNP		37	c.807C>T																																																																																				0	0.458								
ZNF107	51427	broad.mit.edu	37	7	64167281	64167281	+	Missense_Mutation	SNP	C	C	A	rs201135722		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:64167281C>A	ENST00000395391.1	+	4	1974	c.599C>A	c.(598-600)gCc>gAc	p.A200D	ZNF107_ENST00000344930.3_Missense_Mutation_p.A200D|ZNF107_ENST00000423627.1_Missense_Mutation_p.A200D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	200					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)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTTAAACAGGCCTCACACCTT	0.373																																						uc003ttd.2																			0				ovary(1)	1						c.(598-600)GCC>GAC		zinc finger protein 107							38.0	42.0	41.0					7																	64167281		2201	4297	6498	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64167281C>A	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.599C>A	7.37:g.64167281C>A	ENSP00000378789:p.Ala200Asp					ZNF107_uc003tte.2_Missense_Mutation_p.A200D	p.A200D	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	1385	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	200			C2H2-type 5.			Missense_Mutation	SNP	ENST00000395391.1	37	c.599C>A	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	2.125	-0.400438	0.04865	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.15718	2.4;2.4;2.4	1.4	-2.79	0.05841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09379	0.0231	L	0.37561	1.115	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38200	-0.9672	8	.	.	.	.	0.5267	0.00621	0.3871:0.2476:0.1934:0.172	.	200	Q9UII5	ZN107_HUMAN	D	200	ENSP00000343443:A200D;ENSP00000400037:A200D;ENSP00000378789:A200D	.	A	+	2	0	ZNF107	63804716	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-3.875000	0.00345	-1.108000	0.03000	-1.721000	0.00707	GCC		0.373	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220	
MAGI2	9863	broad.mit.edu	37	7	77807399	77807399	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:77807399C>T	ENST00000354212.4	-	14	2585	c.2332G>A	c.(2332-2334)Gat>Aat	p.D778N	MAGI2_ENST00000419488.1_Missense_Mutation_p.D764N|MAGI2_ENST00000522391.1_Missense_Mutation_p.D778N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	778	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGATGAACATCCAATTCCTTA	0.453																																						uc003ugx.2																			0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(2332-2334)GAT>AAT		membrane associated guanylate kinase, WW and PDZ							86.0	81.0	83.0					7																	77807399		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77807399C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2332G>A	7.37:g.77807399C>T	ENSP00000346151:p.Asp778Asn					MAGI2_uc003ugy.2_Missense_Mutation_p.D764N|MAGI2_uc010ldx.1_Missense_Mutation_p.D371N	p.D778N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			14	2586	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	778			PDZ 4.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2332G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258460	0.95368	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.41758	0.99;1.11;1.11	5.77	5.77	0.91146	PDZ/DHR/GLGF (2);	0.000000	0.37577	U	0.002025	T	0.48960	0.1529	N	0.11698	0.16	0.80722	D	1	P;D;D	0.69078	0.896;0.997;0.98	P;D;P	0.66979	0.596;0.948;0.721	T	0.56932	-0.7897	10	0.72032	D	0.01	.	19.9924	0.97371	0.0:1.0:0.0:0.0	.	778;764;778	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	N	764;778;778;778	ENSP00000405766:D764N;ENSP00000346151:D778N;ENSP00000428389:D778N	ENSP00000346151:D778N	D	-	1	0	MAGI2	77645335	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.089000	0.71384	2.727000	0.93392	0.650000	0.86243	GAT		0.453	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301	
PCLO	27445	broad.mit.edu	37	7	82582560	82582560	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:82582560G>A	ENST00000333891.9	-	5	8046	c.7709C>T	c.(7708-7710)cCa>cTa	p.P2570L	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.P2570L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAAAATCTTGGTGAAGACTT	0.403																																						uc003uhx.2																			0				ovary(7)	7						c.(7708-7710)CCA>CTA		piccolo isoform 1							119.0	116.0	117.0					7																	82582560		1843	4097	5940	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582560G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7709C>T	7.37:g.82582560G>A	ENSP00000334319:p.Pro2570Leu					PCLO_uc003uhv.2_Missense_Mutation_p.P2570L|PCLO_uc010lec.2_5'Flank	p.P2570L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	7998	-			2501						Missense_Mutation	SNP	ENST00000333891.9	37	c.7709C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	7.198	0.592941	0.13875	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19250	2.16;2.17	4.66	4.66	0.58398	.	.	.	.	.	T	0.42040	0.1185	M	0.63843	1.955	0.80722	D	1	D;D	0.62365	0.991;0.991	P;P	0.61070	0.883;0.883	T	0.42224	-0.9464	9	0.87932	D	0	.	17.5217	0.87789	0.0:0.0:1.0:0.0	.	2570;2570	Q9Y6V0-5;Q9Y6V0-6	.;.	L	2501;2570;2570	ENSP00000334319:P2570L;ENSP00000388393:P2570L	ENSP00000334319:P2570L	P	-	2	0	PCLO	82420496	1.000000	0.71417	0.997000	0.53966	0.763000	0.43281	9.441000	0.97557	2.147000	0.66899	0.484000	0.47621	CCA		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
GRM3	2913	broad.mit.edu	37	7	86416220	86416220	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:86416220G>A	ENST00000361669.2	+	3	2211	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	GRM3_ENST00000536043.1_Missense_Mutation_p.R243H|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R371H|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.R369H|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	371					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)					AACCACAGGCGCGTCTGCGAC	0.567																																					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.(1111-1113)CGC>CAC		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						100.0	84.0	90.0					7																	86416220		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86416220G>A		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.1112G>A	7.37:g.86416220G>A	ENSP00000355316:p.Arg371His					GRM3_uc010lef.2_Missense_Mutation_p.R369H|GRM3_uc010leg.2_Missense_Mutation_p.R243H|GRM3_uc010leh.2_Intron	p.R371H	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	2211	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		371			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1112G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836349	0.50951	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	5.93	4.1	0.47936	Extracellular ligand-binding receptor (1);	0.305751	0.35772	N	0.002988	T	0.78000	0.4215	L	0.34521	1.04	0.23282	N	0.997985	B;B;B	0.28584	0.216;0.045;0.002	B;B;B	0.26094	0.066;0.013;0.005	T	0.70303	-0.4909	10	0.72032	D	0.01	.	5.7469	0.18124	0.3442:0.0:0.6557:0.0	.	243;371;371	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	H	371;243;371;369	ENSP00000355316:R371H;ENSP00000441407:R243H;ENSP00000398767:R371H;ENSP00000378209:R369H	ENSP00000355316:R371H	R	+	2	0	GRM3	86254156	0.997000	0.39634	0.874000	0.34290	0.987000	0.75469	3.095000	0.50235	1.480000	0.48289	0.655000	0.94253	CGC		0.567	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
GRM3	2913	broad.mit.edu	37	7	86416334	86416334	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:86416334G>A	ENST00000361669.2	+	3	2325	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	GRM3_ENST00000536043.1_Missense_Mutation_p.R281H|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R409H|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.R407H|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	409					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)					AAAATGCAGCGCACCCTCTGT	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.(1225-1227)CGC>CAC		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						187.0	163.0	171.0					7																	86416334		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86416334G>A		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.1226G>A	7.37:g.86416334G>A	ENSP00000355316:p.Arg409His					GRM3_uc010lef.2_Missense_Mutation_p.R407H|GRM3_uc010leg.2_Missense_Mutation_p.R281H|GRM3_uc010leh.2_Intron	p.R409H	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	2325	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		409			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1226G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184061	0.57800	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.78	5.78	0.91487	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	L	0.37750	1.13	0.80722	D	1	B;B;B	0.28439	0.022;0.212;0.06	B;B;B	0.21708	0.007;0.036;0.027	T	0.74365	-0.3689	10	0.20046	T	0.44	.	18.9941	0.92806	0.0:0.0:1.0:0.0	.	281;409;409	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	H	409;281;409;407	ENSP00000355316:R409H;ENSP00000441407:R281H;ENSP00000398767:R409H;ENSP00000378209:R407H	ENSP00000355316:R409H	R	+	2	0	GRM3	86254270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.672000	0.68102	2.720000	0.93068	0.655000	0.94253	CGC		0.498	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
GRM3	2913	broad.mit.edu	37	7	86468918	86468918	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:86468918C>T	ENST00000361669.2	+	4	3187	c.2088C>T	c.(2086-2088)atC>atT	p.I696I	GRM3_ENST00000536043.1_Silent_p.I568I|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.I288I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	696					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)					TGGGTCTGATCCTGGTGCAAA	0.527																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			0		p.I696T(1)		lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(2086-2088)ATC>ATT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						76.0	74.0	75.0					7																	86468918		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468918C>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.2088C>T	7.37:g.86468918C>T						GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.I568I|GRM3_uc010leh.2_Silent_p.I288I	p.I696I	NM_000840	NP_000831	Q14832	GRM3_HUMAN			4	3187	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		696			Helical; Name=4; (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.2088C>T	CCDS5600.1																																																																																				0.527	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
STEAP1	26872	broad.mit.edu	37	7	89791325	89791325	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:89791325T>C	ENST00000297205.2	+	4	895	c.695T>C	c.(694-696)cTg>cCg	p.L232P	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	232	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					ATACTGGCTCTGTTGGCTGTG	0.378																																						uc003ujx.2																			0					0						c.(694-696)CTG>CCG		six transmembrane epithelial antigen of the							192.0	168.0	176.0					7																	89791325		2203	4300	6503	SO:0001583	missense	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89791325T>C	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.695T>C	7.37:g.89791325T>C	ENSP00000297205:p.Leu232Pro					STEAP1_uc010lem.2_Missense_Mutation_p.L232P	p.L232P	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN			4	895	+	all_hematologic(106;0.112)		232			Ferric oxidoreductase.|Helical; (Potential).		A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	c.695T>C	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261803	0.80358	.	.	ENSG00000164647	ENST00000297205	D	0.92965	-3.14	5.61	5.61	0.85477	Flavoprotein transmembrane component (1);	0.113233	0.38381	N	0.001708	D	0.95862	0.8653	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.96368	0.9271	10	0.87932	D	0	-2.7554	15.8023	0.78463	0.0:0.0:0.0:1.0	.	232;232	B4E221;Q9UHE8	.;STEA1_HUMAN	P	232	ENSP00000297205:L232P	ENSP00000297205:L232P	L	+	2	0	STEAP1	89629261	0.952000	0.32445	0.967000	0.41034	0.879000	0.50718	7.345000	0.79337	2.133000	0.65898	0.533000	0.62120	CTG		0.378	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449	
TRPV5	56302	broad.mit.edu	37	7	142611855	142611855	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:142611855G>A	ENST00000265310.1	-	12	1822	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	492					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAGCAGAAACGCATTAGGTCT	0.463																																						uc003wby.1																			0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1474-1476)CGT>TGT		transient receptor potential cation channel,							80.0	69.0	73.0					7																	142611855		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142611855G>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1474C>T	7.37:g.142611855G>A	ENSP00000265310:p.Arg492Cys						p.R492C	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			12	1738	-	Melanoma(164;0.059)		492			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1474C>T	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054270	0.75960	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.91894	-2.93;-2.93	5.24	4.34	0.51931	Ion transport (1);	0.061929	0.64402	D	0.000005	D	0.96106	0.8731	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.96415	0.9307	10	0.87932	D	0	-9.6578	12.413	0.55478	0.0:0.0:0.6946:0.3054	.	492	Q9NQA5	TRPV5_HUMAN	C	492;437	ENSP00000265310:R492C;ENSP00000406361:R437C	ENSP00000265310:R492C	R	-	1	0	TRPV5	142321977	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.652000	0.61454	1.308000	0.44962	0.655000	0.94253	CGT		0.463	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
GATA4	2626	broad.mit.edu	37	8	11607623	11607623	+	Missense_Mutation	SNP	G	G	A	rs201520087		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr8:11607623G>A	ENST00000335135.4	+	4	1345	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	GATA4_ENST00000532059.1_Missense_Mutation_p.A264T|GATA4_ENST00000528712.1_Missense_Mutation_p.A57T	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	263					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CTTGCAGTCCGCCTCCCGCCG	0.637																																						uc003wuc.2																			0				central_nervous_system(1)	1						c.(787-789)GCC>ACC		GATA binding protein 4							51.0	50.0	50.0					8																	11607623		2203	4300	6503	SO:0001583	missense	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11607623G>A	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.787G>A	8.37:g.11607623G>A	ENSP00000334458:p.Ala263Thr					GATA4_uc003wub.1_Missense_Mutation_p.A57T|GATA4_uc011kxc.1_Missense_Mutation_p.A264T	p.A263T	NM_002052	NP_002043	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	4	1341	+	all_epithelial(15;0.0839)		263					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	c.787G>A	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055924	0.93793	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.99683	-6.39;-6.39;-6.39;-6.39	5.38	5.38	0.77491	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (1);	0.000000	0.64402	D	0.000002	D	0.98592	0.9529	L	0.37466	1.105	0.80722	D	1	P;P	0.48694	0.767;0.914	B;B	0.38106	0.253;0.265	D	0.99905	1.1176	10	0.62326	D	0.03	-8.3538	18.1495	0.89669	0.0:0.0:1.0:0.0	.	264;263	B7ZKZ4;P43694	.;GATA4_HUMAN	T	57;57;263;262;264	ENSP00000435043:A57T;ENSP00000435347:A57T;ENSP00000334458:A263T;ENSP00000435712:A264T	ENSP00000259090:A262T	A	+	1	0	GATA4	11645032	1.000000	0.71417	0.959000	0.39883	0.892000	0.51952	9.640000	0.98453	2.507000	0.84556	0.655000	0.94253	GCC		0.637	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052	
ENPP2	5168	broad.mit.edu	37	8	120629759	120629759	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr8:120629759C>T	ENST00000075322.6	-	6	582	c.524G>A	c.(523-525)cGt>cAt	p.R175H	ENPP2_ENST00000522826.1_Missense_Mutation_p.R175H|ENPP2_ENST00000259486.6_Missense_Mutation_p.R175H|ENPP2_ENST00000427067.2_Missense_Mutation_p.R171H	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	175					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTATGATGCACGGAAGCCATC	0.373																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1																			0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(523-525)CGT>CAT		autotaxin isoform 2 preproprotein							74.0	70.0	71.0					8																	120629759		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120629759C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.524G>A	8.37:g.120629759C>T	ENSP00000075322:p.Arg175His					ENPP2_uc003yos.1_Missense_Mutation_p.R175H|ENPP2_uc010mdd.1_Missense_Mutation_p.R175H	p.R175H	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		6	610	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		175					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.524G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457265	0.96223	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.95	5.95	0.96441	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	M	0.67517	2.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.87923	0.2705	10	0.87932	D	0	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	175;175;175	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	H	175;171;175;175;157	ENSP00000259486:R175H;ENSP00000403315:R171H;ENSP00000428291:R175H;ENSP00000075322:R175H;ENSP00000428304:R157H	ENSP00000075322:R175H	R	-	2	0	ENPP2	120698940	1.000000	0.71417	0.982000	0.44146	0.914000	0.54420	7.818000	0.86416	2.827000	0.97445	0.650000	0.86243	CGT		0.373	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
BAI1	575	broad.mit.edu	37	8	143625027	143625027	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr8:143625027C>T	ENST00000517894.1	+	30	5409	c.4515C>T	c.(4513-4515)caC>caT	p.H1505H	BAI1_ENST00000323289.5_Silent_p.H1505H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1505	Necessary for interaction with MAGI1.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCTGCAGCACGCAGCGGAGA	0.662																																						uc003ywm.2																			0				lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(4513-4515)CAC>CAT		brain-specific angiogenesis inhibitor 1							25.0	30.0	28.0					8																	143625027		2036	4165	6201	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143625027C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.4515C>T	8.37:g.143625027C>T							p.H1505H	NM_001702	NP_001693	O14514	BAI1_HUMAN			29	4698	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1505			Cytoplasmic (Potential).|Necessary for interaction with MAGI1.			Silent	SNP	ENST00000517894.1	37	c.4515C>T																																																																																					0.662	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702	
SPATA31C2	645961	broad.mit.edu	37	9	90746228	90746228	+	IGR	SNP	A	A	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:90746228A>T								U6 (132978 upstream) : U3 (242955 downstream)																							GGCTTTCAGGATGTTTTCTAT	0.522																																						uc011lti.1																			0											c.(1723-1725)ATC>AAC		SubName: Full=cDNA FLJ59639;							22.0	20.0	20.0					9																	90746228		692	1591	2283	SO:0001628	intergenic_variant	0							g.chr9:90746228A>T																													9.37:g.90746228A>T							p.I575N							4	1753	-									Missense_Mutation	SNP		37	c.1724T>A																																																																																				0	0.522								
OR13C9	286362	broad.mit.edu	37	9	107379553	107379553	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:107379553C>T	ENST00000259362.1	-	1	932	c.933G>A	c.(931-933)ccG>ccA	p.P311P		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	311						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)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ACCTTCTGTTCGGTAGGTGTT	0.353																																						uc011lvr.1																			0					0						c.(931-933)CCG>CCA		olfactory receptor, family 13, subfamily C,							180.0	175.0	176.0					9																	107379553		2203	4300	6503	SO:0001819	synonymous_variant	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379553C>T		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.933G>A	9.37:g.107379553C>T							p.P311P	NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN			1	933	-			311			Cytoplasmic (Potential).		Q6IFL2	Silent	SNP	ENST00000259362.1	37	c.933G>A	CCDS35093.1																																																																																				0.353	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1		
PRRC2B	84726	broad.mit.edu	37	9	134350722	134350722	+	Missense_Mutation	SNP	G	G	A	rs377155180		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:134350722G>A	ENST00000357304.4	+	15	3261	c.3206G>A	c.(3205-3207)cGt>cAt	p.R1069H	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1069							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGCCGGGGCCGTGGTTTCAGA	0.612																																						uc004can.3																			0					0						c.(3205-3207)CGT>CAT		HLA-B associated transcript 2-like		G	HIS/ARG	1,3711		0,1,1855	20.0	24.0	23.0		3206	6.2	1.0	9		23	0,8174		0,0,4087	no	missense	PRRC2B	NM_013318.3	29	0,1,5942	AA,AG,GG		0.0,0.0269,0.0084	probably-damaging	1069/2230	134350722	1,11885	1856	4087	5943	SO:0001583	missense	84726						protein binding	g.chr9:134350722G>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3206G>A	9.37:g.134350722G>A	ENSP00000349856:p.Arg1069His					BAT2L1_uc010mzj.1_Missense_Mutation_p.R652H|BAT2L1_uc004cao.3_Missense_Mutation_p.R427H	p.R1069H	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			15	3261	+			1069					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.3206G>A	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956910	0.92726	2.69E-4	0.0	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.28454	1.61	6.17	6.17	0.99709	.	.	.	.	.	T	0.56877	0.2015	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.46803	-0.9165	8	.	.	.	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	365;1069	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	H	1069;365	ENSP00000349856:R1069H	.	R	+	2	0	PRRC2B	133340543	1.000000	0.71417	0.972000	0.41901	0.976000	0.68499	7.608000	0.82898	2.941000	0.99782	0.655000	0.94253	CGT		0.612	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CEL	1056	broad.mit.edu	37	9	135945963	135945963	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:135945963G>A	ENST00000372080.4	+	10	1427	c.1411G>A	c.(1411-1413)Gcc>Acc	p.A471T	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	468					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GAAGCCCTTCGCCACCCCCAC	0.582																																						uc010naa.1																			0				pancreas(1)	1						c.(1411-1413)GCC>ACC		carboxyl ester lipase precursor							89.0	99.0	96.0					9																	135945963		1977	4140	6117	SO:0001583	missense	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135945963G>A	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1411G>A	9.37:g.135945963G>A	ENSP00000361151:p.Ala471Thr						p.A471T	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	10	1427	+			468					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	c.1411G>A	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	G	4.789	0.146630	0.09134	.	.	ENSG00000170835	ENST00000372080;ENST00000303626	T	0.58506	0.33	5.69	2.7	0.31948	Carboxylesterase, type B (1);	0.512701	0.22331	N	0.061479	T	0.28532	0.0706	N	0.10809	0.05	0.09310	N	0.999999	P	0.41041	0.736	B	0.30572	0.117	T	0.14559	-1.0468	10	0.17369	T	0.5	.	9.5212	0.39135	0.0:0.2597:0.4721:0.2682	.	468	P19835	CEL_HUMAN	T	471;470	ENSP00000361151:A471T	ENSP00000304021:A470T	A	+	1	0	CEL	134935784	0.006000	0.16342	0.003000	0.11579	0.104000	0.19210	0.485000	0.22324	0.280000	0.22209	0.472000	0.43445	GCC		0.582	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1		
EGFL6	25975	broad.mit.edu	37	X	13624543	13624543	+	Missense_Mutation	SNP	G	G	A	rs182977902		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chrX:13624543G>A	ENST00000361306.1	+	6	823	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	EGFL6_ENST00000380602.3_Missense_Mutation_p.R189Q	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	189	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CCCTACAATCGAAGATGTGTG	0.398													G|||	1	0.000264901	0.0008	0.0	3775	,	,		15745	0.0		0.0	False		,,,				2504	0.0					uc004cvi.2																			0				breast(2)	2						c.(565-567)CGA>CAA		epidermal growth factor-like protein 6							215.0	174.0	188.0					X																	13624543		2203	4300	6503	SO:0001583	missense	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13624543G>A	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.566G>A	X.37:g.13624543G>A	ENSP00000355126:p.Arg189Gln					EGFL6_uc004cvj.2_Missense_Mutation_p.R189Q|EGFL6_uc011mik.1_Missense_Mutation_p.R90Q	p.R189Q	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN			6	806	+			189			EGF-like 4; calcium-binding (Potential).		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	c.566G>A	CCDS14155.1	2	0.0012055455093429777	1	0.0020408163265306124	0	0.0	0	0.0	0	0.0	G	33	5.284149	0.95517	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.86627	-2.15;-2.15	5.14	5.14	0.70334	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.83440	0.5255	N	0.01668	-0.77	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87712	0.2567	10	0.35671	T	0.21	.	17.4338	0.87546	0.0:0.0:1.0:0.0	.	189;189	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	Q	189	ENSP00000355126:R189Q;ENSP00000369976:R189Q	ENSP00000355126:R189Q	R	+	2	0	EGFL6	13534464	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.078000	0.94023	2.144000	0.66660	0.532000	0.56150	CGA		0.398	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507	
