#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	3746424	3746424	+	Silent	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:3746424G>A	ENST00000378230.3	-	14	2298	c.1974C>T	c.(1972-1974)aaC>aaT	p.N658N	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	658						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						TGTAGAGAATGTTCCTGCGTG	0.463																																						uc001aky.2																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(1972-1974)aaC>aaT		Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.							184.0	176.0	179.0					1																	3746424		2203	4300	6503	SO:0001819	synonymous_variant	9731					centriole	binding	g.chr1:3746424G>A	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.1974C>T	1.37:g.3746424G>A						CEP104_uc010nzm.1_Non-coding_Transcript	p.N658N	NM_014704	NP_055519	O60308	CE104_HUMAN			13	2333	-			658					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Silent	SNP	ENST00000378230.3	37	c.1974C>T	CCDS30571.1																																																																																				0.463	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	
RPA2	6118	broad.mit.edu	37	1	28223599	28223599	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:28223599G>A	ENST00000373912.3	-	6	741	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	RPA2_ENST00000373909.3_Missense_Mutation_p.P156S|RPA2_ENST00000313433.7_Missense_Mutation_p.P236S	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	148					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|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)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCCAGGGGCATGATCTTA	0.383								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001bpe.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11						c.(442-444)Ccc>Tcc	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens replication protein A2, 32kDa (RPA2), mRNA.							144.0	130.0	134.0					1																	28223599		2203	4300	6503	SO:0001583	missense	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28223599G>A	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"""replication protein A2 (32kD)"""			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.442C>T	1.37:g.28223599G>A	ENSP00000363021:p.Pro148Ser					RPA2_uc010ofp.1_Missense_Mutation_p.P52S	p.P148S	NM_002946	NP_002937	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	5	724	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	148					Q52II0|Q5TEI9|Q5TEJ5	Missense_Mutation	SNP	ENST00000373912.3	37	c.442C>T	CCDS314.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677786	0.88445	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.32	5.32	0.75619	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.103870	0.64402	D	0.000002	T	0.53302	0.1788	M	0.87328	2.875	0.47862	D	0.999535	D;D	0.59767	0.986;0.985	D;P	0.72982	0.979;0.901	T	0.58719	-0.7587	10	0.56958	D	0.05	-8.2616	18.1399	0.89636	0.0:0.0:1.0:0.0	.	148;156	P15927;P15927-2	RFA2_HUMAN;.	S	148;156;236;152	ENSP00000363021:P148S;ENSP00000363017:P156S;ENSP00000363015:P236S;ENSP00000387649:P152S	ENSP00000363015:P236S	P	-	1	0	RPA2	28096186	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.010000	0.64004	2.655000	0.90218	0.555000	0.69702	CCC		0.383	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946	
C8B	732	broad.mit.edu	37	1	57417728	57417728	+	Missense_Mutation	SNP	G	G	A	rs374321085		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:57417728G>A	ENST00000371237.4	-	5	725	c.659C>T	c.(658-660)aCg>aTg	p.T220M	C8B_ENST00000535057.1_Missense_Mutation_p.T158M|C8B_ENST00000543257.1_Missense_Mutation_p.T168M	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	220	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TACCTGTGGCGTGTAGCTTTC	0.562																																						uc001cyp.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(658-660)aCg>aTg		Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.		G	MET/THR	0,4406		0,0,2203	145.0	135.0	138.0		659	0.1	0.8	1		138	1,8599	1.2+/-3.3	0,1,4299	no	missense	C8B	NM_000066.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	220/592	57417728	1,13005	2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57417728G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.659C>T	1.37:g.57417728G>A	ENSP00000360281:p.Thr220Met					C8B_uc010oon.2_Missense_Mutation_p.T158M|C8B_uc010ooo.2_Missense_Mutation_p.T168M	p.T220M	NM_000066	NP_000057	P07358	CO8B_HUMAN			4	726	-			220			MACPF.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.659C>T	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	9.152	1.016479	0.19355	0.0	1.16E-4	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.29917	1.8;1.55;1.55	5.56	0.0826	0.14429	Membrane attack complex component/perforin (MACPF) domain (1);	0.482456	0.25143	N	0.032810	T	0.21103	0.0508	M	0.70275	2.135	0.23568	N	0.997394	P;P;B	0.35982	0.531;0.531;0.287	B;B;B	0.24701	0.055;0.055;0.025	T	0.16394	-1.0404	10	0.48119	T	0.1	-3.9507	1.7872	0.03044	0.2755:0.2274:0.3808:0.1163	.	168;158;220	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	M	220;168;158	ENSP00000360281:T220M;ENSP00000442548:T168M;ENSP00000440113:T158M	ENSP00000360281:T220M	T	-	2	0	C8B	57190316	0.001000	0.12720	0.802000	0.32245	0.002000	0.02628	0.177000	0.16801	0.377000	0.24735	-0.186000	0.12905	ACG		0.562	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2		
SGIP1	84251	broad.mit.edu	37	1	67206953	67206953	+	Splice_Site	SNP	A	A	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:67206953A>T	ENST00000371037.4	+	24	2376		c.e24-1		SGIP1_ENST00000237247.6_Splice_Site|SGIP1_ENST00000435165.2_Splice_Site|SGIP1_ENST00000371039.1_Splice_Site|SGIP1_ENST00000371035.3_Splice_Site|SGIP1_ENST00000371036.3_Splice_Site	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1						endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTTTTTTTTTAGGGGTGGGTT	0.373																																						uc001dcr.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.e24-2		Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.							77.0	72.0	74.0					1																	67206953		2203	4300	6503	SO:0001630	splice_region_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67206953A>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.2300-1A>T	1.37:g.67206953A>T						SGIP1_uc010opd.2_Splice_Site_p.G367_splice|SGIP1_uc001dcs.3_Splice_Site_p.G367_splice|SGIP1_uc001dct.3_Splice_Site_p.G369_splice|SGIP1_uc009wat.3_Splice_Site_p.G561_splice|SGIP1_uc001dcu.3_Splice_Site_p.G272_splice	p.G767_splice	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			24	2517	+			767					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Splice_Site	SNP	ENST00000371037.4	37	c.2300_splice	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248369	0.80024	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0037	0.80327	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SGIP1	66979541	1.000000	0.71417	0.995000	0.50966	0.886000	0.51366	8.822000	0.92013	2.184000	0.69523	0.533000	0.62120	.		0.373	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	Intron
TDRD10	126668	broad.mit.edu	37	1	154479756	154479756	+	Silent	SNP	G	G	C			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:154479756G>C	ENST00000368480.3	+	3	127	c.42G>C	c.(40-42)ctG>ctC	p.L14L	TDRD10_ENST00000368482.4_Silent_p.L14L			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	14							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGATAAACTGTTTGGGAAGA	0.502																																						uc009wow.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(40-42)ctG>ctC		Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.							84.0	82.0	82.0					1																	154479756		1960	4139	6099	SO:0001819	synonymous_variant	126668						nucleotide binding|RNA binding	g.chr1:154479756G>C	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.42G>C	1.37:g.154479756G>C						TDRD10_uc001ffd.3_Silent_p.L14L	p.L14L	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	880	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		14					A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	ENST00000368480.3	37	c.42G>C	CCDS41406.1																																																																																				0.502	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499	
SLAMF7	57823	broad.mit.edu	37	1	160718192	160718192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:160718192C>A	ENST00000368043.3	+	2	301	c.264C>A	c.(262-264)taC>taA	p.Y88*	SLAMF7_ENST00000359331.4_Nonsense_Mutation_p.Y88*|SLAMF7_ENST00000441662.2_Nonsense_Mutation_p.Y88*|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000444090.2_Nonsense_Mutation_p.Y88*|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000368042.3_Intron	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	88	Ig-like V-type.				cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGGAGGCTACTCCCTGAAGC	0.507																																						uc001fwq.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24						c.(262-264)taC>taA		Homo sapiens SLAM family member 7 (SLAMF7), mRNA.							86.0	79.0	82.0					1																	160718192		2203	4300	6503	SO:0001587	stop_gained	57823				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	g.chr1:160718192C>A	AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.264C>A	1.37:g.160718192C>A	ENSP00000357022:p.Tyr88*					SLAMF7_uc010pjn.2_Intron|SLAMF7_uc001fws.3_Intron|SLAMF7_uc001fwr.3_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjo.2_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjr.2_Intron	p.Y88*	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		1	279	+	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		88					A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Nonsense_Mutation	SNP	ENST00000368043.3	37	c.264C>A	CCDS1209.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581048	0.28180	.	.	ENSG00000026751	ENST00000444090;ENST00000441662;ENST00000368043;ENST00000359331	.	.	.	4.59	0.614	0.17603	.	1.706890	0.02826	N	0.126190	.	.	.	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.3313	8.6832	0.34221	0.0:0.64:0.0:0.36	.	.	.	.	X	88	.	.	Y	+	3	2	SLAMF7	158984816	0.042000	0.20092	0.229000	0.23960	0.121000	0.20230	-0.223000	0.09177	0.025000	0.15241	-1.151000	0.01829	TAC		0.507	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181	
USH2A	7399	broad.mit.edu	37	1	216052106	216052106	+	Splice_Site	SNP	C	C	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:216052106C>A	ENST00000307340.3	-	42	8944	c.8558G>T	c.(8557-8559)aGa>aTa	p.R2853I	USH2A_ENST00000366943.2_Splice_Site_p.R2853I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2853	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTCTCTTACCTCAAATTAGG	0.393										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.e42+1		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							87.0	89.0	88.0					1																	216052106		2203	4300	6503	SO:0001630	splice_region_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052106C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8558+1G>T	1.37:g.216052106C>A		HNSCC(13;0.011)					p.R2853_splice	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8945	-			2853			Fibronectin type-III 15.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8558_splice	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753564	0.89753	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58210	0.35;0.35	5.9	5.9	0.94986	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000149	T	0.74351	0.3705	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72334	-0.4325	9	.	.	.	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	2853	O75445	USH2A_HUMAN	I	2853	ENSP00000305941:R2853I;ENSP00000355910:R2853I	.	R	-	2	0	USH2A	214118729	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.294000	0.78760	2.788000	0.95919	0.650000	0.86243	AGA		0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Missense_Mutation
OBSCN	84033	broad.mit.edu	37	1	228444458	228444458	+	Silent	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:228444458G>A	ENST00000422127.1	+	15	4460	c.4416G>A	c.(4414-4416)gaG>gaA	p.E1472E	OBSCN_ENST00000359599.6_Silent_p.E36E|OBSCN_ENST00000570156.2_Silent_p.E1564E|OBSCN_ENST00000366707.4_De_novo_Start_InFrame|OBSCN_ENST00000366709.4_De_novo_Start_InFrame|OBSCN_ENST00000284548.11_Silent_p.E1472E	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1472	Ig-like 15.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCAGACGGAGGTGATGTGGT	0.657																																						uc009xez.1																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4414-4416)gaG>gaA		Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.							58.0	60.0	59.0					1																	228444458		2102	4206	6308	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228444458G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4416G>A	1.37:g.228444458G>A						OBSCN_uc001hsn.3_Silent_p.E1472E	p.E1472E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			14	4460	+		Prostate(94;0.0405)	1472			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.4416G>A	CCDS58065.1																																																																																				0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
CUBN	8029	broad.mit.edu	37	10	16870839	16870839	+	Missense_Mutation	SNP	C	C	T	rs139051724	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr10:16870839C>T	ENST00000377833.4	-	66	10794	c.10729G>A	c.(10729-10731)Gcc>Acc	p.A3577T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3577	CUB 27. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAGAGCTGGCGTTGGGCCCA	0.443											OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	4	0.000798722	0.0	0.0014	5008	,	,		19480	0.003		0.0	False		,,,				2504	0.0					uc001ioo.3																			0		p.N3576N(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10729-10731)Gcc>Acc		Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	THR/ALA	0,4406		0,0,2203	131.0	122.0	125.0		10729	4.8	0.0	10	dbSNP_134	125	2,8598	2.2+/-6.3	0,2,4298	no	missense	CUBN	NM_001081.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	3577/3624	16870839	2,13004	2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16870839C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10729G>A	10.37:g.16870839C>T	ENSP00000367064:p.Ala3577Thr		OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	713		p.A3577T	NM_001081	NP_001072	O60494	CUBN_HUMAN			65	10781	-			3577			CUB 27.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10729G>A	CCDS7113.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	C	4.219	0.039441	0.08148	0.0	2.33E-4	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.18960	2.18	5.74	4.84	0.62591	CUB (5);	0.172184	0.27749	N	0.018004	T	0.12561	0.0305	N	0.17901	0.54	0.20403	N	0.999904	P	0.35527	0.507	B	0.33568	0.166	T	0.18366	-1.0339	10	0.26408	T	0.33	.	9.7383	0.40401	0.0:0.7933:0.0:0.2067	.	3577	O60494	CUBN_HUMAN	T	3577;418	ENSP00000367064:A3577T	ENSP00000367064:A3577T	A	-	1	0	CUBN	16910845	0.014000	0.17966	0.002000	0.10522	0.002000	0.02628	0.637000	0.24659	1.435000	0.47434	0.561000	0.74099	GCC		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
OR52M1	119772	broad.mit.edu	37	11	4566817	4566817	+	Missense_Mutation	SNP	C	C	T	rs201225598	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:4566817C>T	ENST00000360213.1	+	1	397	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAACCCACTACGTCATAGCAT	0.522													C|||	2	0.000399361	0.0	0.0	5008	,	,		20636	0.001		0.001	False		,,,				2504	0.0					uc010qyf.2																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(397-399)Cgt>Tgt		Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.		C	CYS/ARG	0,4402		0,0,2201	127.0	115.0	119.0		397	2.0	0.0	11		119	2,8594	2.2+/-6.3	0,2,4296	yes	missense	OR52M1	NM_001004137.1	180	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	133/318	4566817	2,12996	2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4566817C>T	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.397C>T	11.37:g.4566817C>T	ENSP00000353343:p.Arg133Cys						p.R133C	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	397	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	133						Missense_Mutation	SNP	ENST00000360213.1	37	c.397C>T	CCDS31353.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.975	1.226673	0.22542	0.0	2.33E-4	ENSG00000197790	ENST00000360213	T	0.00922	5.54	4.98	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.968659	0.08473	N	0.940668	T	0.03477	0.0100	M	0.91717	3.235	0.09310	N	1	D	0.67145	0.996	P	0.49528	0.614	T	0.36939	-0.9727	10	0.72032	D	0.01	.	4.3967	0.11367	0.1541:0.577:0.0:0.2688	.	133	Q8NGK5	O52M1_HUMAN	C	133	ENSP00000353343:R133C	ENSP00000353343:R133C	R	+	1	0	OR52M1	4523393	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.669000	0.05262	0.334000	0.23590	0.650000	0.86243	CGT		0.522	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137	
OR4S2	219431	broad.mit.edu	37	11	55419151	55419151	+	Missense_Mutation	SNP	C	C	T	rs188197652	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:55419151C>T	ENST00000312422.2	+	1	772	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TATGTACATGCGCCCTGATAC	0.463													c|||	3	0.000599042	0.0	0.0014	5008	,	,		14256	0.0		0.002	False		,,,				2504	0.0					uc001nhs.1																			0		p.R258R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(772-774)Cgc>Tgc		Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.		C	CYS/ARG	0,4358		0,0,2179	157.0	134.0	142.0		772	2.3	1.0	11		142	1,8053		0,1,4026	no	missense	OR4S2	NM_001004059.2	180	0,1,6205	TT,TC,CC		0.0124,0.0,0.0081	possibly-damaging	258/312	55419151	1,12411	2179	4027	6206	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419151C>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.772C>T	11.37:g.55419151C>T	ENSP00000310337:p.Arg258Cys						p.R258C	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			0	772	+		all_epithelial(135;0.0748)	258					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.772C>T	CCDS31505.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	13.72	2.321625	0.41096	0.0	1.24E-4	ENSG00000174982	ENST00000312422	T	0.35789	1.29	5.35	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000264	T	0.37839	0.1018	M	0.83483	2.645	0.42809	D	0.993959	P	0.43094	0.799	B	0.35859	0.212	T	0.41395	-0.9511	10	0.87932	D	0	.	10.6879	0.45854	0.1547:0.7666:0.0:0.0786	.	258	Q8NH73	OR4S2_HUMAN	C	258	ENSP00000310337:R258C	ENSP00000310337:R258C	R	+	1	0	OR4S2	55175727	0.000000	0.05858	0.989000	0.46669	0.942000	0.58702	-1.039000	0.03550	0.162000	0.19483	0.542000	0.68232	CGC		0.463	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059	
SLC25A45	283130	broad.mit.edu	37	11	65143941	65143941	+	Silent	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:65143941G>A	ENST00000527174.1	-	6	859	c.804C>T	c.(802-804)cgC>cgT	p.R268R	SLC25A45_ENST00000377152.2_Silent_p.R164R|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000360662.3_Silent_p.R244R|SLC25A45_ENST00000294187.6_Silent_p.R226R|SLC25A45_ENST00000534028.1_Silent_p.R244R|SLC25A45_ENST00000417511.2_Silent_p.R226R|SLC25A45_ENST00000398802.1_Silent_p.R268R|SLC25A45_ENST00000526432.1_Silent_p.R206R			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	268					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						CGGGAAAGGCGCGGGCACTGT	0.617																																						uc001odr.1																			0		p.R268C(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(802-804)cgC>cgT		Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.							106.0	114.0	112.0					11																	65143941		2095	4212	6307	SO:0001819	synonymous_variant	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65143941G>A	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"""Solute carriers"""	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.804C>T	11.37:g.65143941G>A						SLC25A45_uc009yqi.1_Silent_p.R206R|SLC25A45_uc001odq.1_Silent_p.R244R|SLC25A45_uc001ods.1_Silent_p.R226R|SLC25A45_uc001odt.1_Silent_p.R226R	p.R268R	NM_182556	NP_001070709	Q8N413	S2545_HUMAN			6	1008	-			268					Q6PL49|Q8IW29	Silent	SNP	ENST00000527174.1	37	c.804C>T	CCDS41670.1																																																																																				0.617	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556	
CD3G	917	broad.mit.edu	37	11	118223167	118223167	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:118223167C>A	ENST00000532917.1	+	6	600	c.532C>A	c.(532-534)Cag>Aag	p.Q178K	CD3G_ENST00000392883.2_Missense_Mutation_p.Q74K|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	178					cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	TCAAGGAAACCAGTTGAGGAG	0.443																																						uc001psu.2																			0				breast(2)|kidney(1)|large_intestine(2)|skin(1)	6						c.(532-534)Cag>Aag		Homo sapiens CD3g molecule, gamma (CD3-TCR complex) (CD3G), mRNA.							131.0	135.0	134.0					11																	118223167		2200	4296	6496	SO:0001583	missense	917				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity	g.chr11:118223167C>A	X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"""CD molecules"""	1675	protein-coding gene	gene with protein product		186740	"""CD3g antigen, gamma polypeptide (TiT3 complex)"""				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.532C>A	11.37:g.118223167C>A	ENSP00000431445:p.Gln178Lys					CD3G_uc009zaa.1_Missense_Mutation_p.Q118K	p.Q178K	NM_000073	NP_000064	P09693	CD3G_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	5	612	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	178					Q2HIZ6	Missense_Mutation	SNP	ENST00000532917.1	37	c.532C>A	CCDS8395.1	.	.	.	.	.	.	.	.	.	.	C	1.119	-0.655745	0.03480	.	.	ENSG00000160654	ENST00000392883;ENST00000532917	T;T	0.53640	1.01;0.61	5.94	2.92	0.33932	.	0.967039	0.08611	N	0.920039	T	0.33760	0.0874	L	0.34521	1.04	0.25674	N	0.985861	B	0.26318	0.146	B	0.22152	0.038	T	0.14868	-1.0457	10	0.02654	T	1	.	12.0527	0.53515	0.489:0.511:0.0:0.0	.	178	P09693	CD3G_HUMAN	K	74;178	ENSP00000376621:Q74K;ENSP00000431445:Q178K	ENSP00000376621:Q74K	Q	+	1	0	CD3G	117728377	0.002000	0.14202	0.743000	0.31040	0.514000	0.34195	0.297000	0.19101	0.330000	0.23485	0.650000	0.86243	CAG		0.443	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073	
KCNA6	3742	broad.mit.edu	37	12	4919731	4919731	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:4919731G>C	ENST00000280684.3	+	1	1390	c.524G>C	c.(523-525)gGc>gCc	p.G175A	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.G175A			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	175					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CCGGCCAGGGGCATCGCCATC	0.597										HNSCC(72;0.22)																												uc001qng.3																			0		p.R174R(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(523-525)gGc>gCc		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.							57.0	52.0	54.0					12																	4919731		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919731G>C	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.524G>C	12.37:g.4919731G>C	ENSP00000280684:p.Gly175Ala	HNSCC(72;0.22)				KCNA6_uc021qtr.1_Missense_Mutation_p.G175A	p.G175A	NM_002235	NP_002226	P17658	KCNA6_HUMAN			0	1390	+			175						Missense_Mutation	SNP	ENST00000280684.3	37	c.524G>C	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409699	0.25465	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.60797	0.16;0.16	4.99	3.06	0.35304	.	0.525534	0.20653	N	0.088178	T	0.43233	0.1238	N	0.19112	0.55	0.41201	D	0.986375	B	0.17852	0.024	B	0.16289	0.015	T	0.27262	-1.0079	10	0.45353	T	0.12	.	14.6107	0.68514	0.0:0.445:0.5549:0.0	.	175	P17658	KCNA6_HUMAN	A	175	ENSP00000408321:G175A;ENSP00000280684:G175A	ENSP00000280684:G175A	G	+	2	0	KCNA6	4789992	0.998000	0.40836	1.000000	0.80357	0.789000	0.44602	0.633000	0.24598	0.627000	0.30340	0.563000	0.77884	GGC		0.597	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235	
NANOG	79923	broad.mit.edu	37	12	7945667	7945667	+	Silent	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:7945667C>T	ENST00000229307.4	+	2	492	c.273C>T	c.(271-273)gtC>gtT	p.V91V	NANOG_ENST00000526286.1_Silent_p.V91V	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	91					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		AAGACAAGGTCCCGGTCAAGA	0.478																																						uc009zfy.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(271-273)gtC>gtT		Homo sapiens Nanog homeobox (NANOG), mRNA.							50.0	45.0	47.0					12																	7945667		2202	4290	6492	SO:0001819	synonymous_variant	79923				cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:7945667C>T	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"""Homeoboxes / ANTP class : NKL subclass"""	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.273C>T	12.37:g.7945667C>T							p.V91V	NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN		Kidney(36;0.0872)	1	489	+			91					D3DUU4|Q2TTG0|Q6JZS5	Silent	SNP	ENST00000229307.4	37	c.273C>T	CCDS31736.1																																																																																				0.478	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865	
FAM60A	58516	broad.mit.edu	37	12	31451078	31451078	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:31451078C>T	ENST00000337682.4	-	2	429	c.61G>A	c.(61-63)Gct>Act	p.A21T	FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Missense_Mutation_p.A21T|FAM60A_ENST00000542983.1_Intron	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	21					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					GAGGACTTAGCTCTGCAAATA	0.418																																						uc001rkc.3																			0				large_intestine(1)|lung(2)	3						c.(136-138)Gct>Act		Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.							107.0	101.0	103.0					12																	31451078		2203	4300	6503	SO:0001583	missense	58516							g.chr12:31451078C>T	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"""chromosome 12 open reading frame 14"""	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.61G>A	12.37:g.31451078C>T	ENSP00000337477:p.Ala21Thr					FAM60A_uc010sjz.2_Missense_Mutation_p.A21T|FAM60A_uc001rkd.3_Missense_Mutation_p.A21T|FAM60A_uc010ska.2_Missense_Mutation_p.A21T|FAM60A_uc001rke.3_Missense_Mutation_p.A21T|FAM60A_uc010skb.2_Intron	p.A46T	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN			0	378	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		21					D3DUV8|Q9BSZ8	Missense_Mutation	SNP	ENST00000337682.4	37	c.136G>A	CCDS8723.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883690	0.72410	.	.	ENSG00000139146	ENST00000337682;ENST00000454658;ENST00000398170;ENST00000539004;ENST00000543615	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	L	0.54965	1.715	0.80722	D	1	B;P	0.36683	0.035;0.565	B;B	0.34385	0.013;0.181	T	0.53683	-0.8404	10	0.41790	T	0.15	-17.1109	18.1981	0.89829	0.0:1.0:0.0:0.0	.	21;62	Q9NP50;B7Z287	FA60A_HUMAN;.	T	21;21;62;21;21	ENSP00000337477:A21T;ENSP00000393279:A21T;ENSP00000443881:A21T;ENSP00000437363:A21T	ENSP00000337477:A21T	A	-	1	0	FAM60A	31342345	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.588000	0.60999	2.350000	0.79820	0.655000	0.94253	GCT		0.418	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238	
TAOK3	51347	broad.mit.edu	37	12	118599775	118599775	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:118599775C>T	ENST00000392533.3	-	18	2447	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	TAOK3_ENST00000419821.2_Missense_Mutation_p.D653N|TAOK3_ENST00000543709.1_5'Flank|TAOK3_ENST00000537952.1_Missense_Mutation_p.D193N	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	653					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGACTCGTCGTGCCGGATT	0.507																																						uc001twx.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(1957-1959)Gac>Aac		Homo sapiens TAO kinase 3 (TAOK3), mRNA.							198.0	162.0	174.0					12																	118599775		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118599775C>T	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1957G>A	12.37:g.118599775C>T	ENSP00000376317:p.Asp653Asn					TAOK3_uc001twv.3_Missense_Mutation_p.D193N|TAOK3_uc001tww.3_Missense_Mutation_p.D483N|TAOK3_uc001twy.4_Missense_Mutation_p.D653N	p.D653N	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			17	2252	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		653					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.1957G>A	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904922	0.72868	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952;ENST00000359811	T;T;T	0.52526	0.66;0.66;0.66	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	L	0.57536	1.79	0.54753	D	0.999987	P	0.51351	0.944	B	0.32864	0.154	T	0.50406	-0.8832	10	0.44086	T	0.13	.	19.2909	0.94098	0.0:1.0:0.0:0.0	.	653	Q9H2K8	TAOK3_HUMAN	N	653;653;193;271	ENSP00000416374:D653N;ENSP00000376317:D653N;ENSP00000443834:D193N	ENSP00000352863:D271N	D	-	1	0	TAOK3	117084158	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.109000	0.50345	2.894000	0.99253	0.655000	0.94253	GAC		0.507	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281	
ABCB9	23457	broad.mit.edu	37	12	123430663	123430663	+	Missense_Mutation	SNP	T	T	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:123430663T>G	ENST00000542678.1	-	6	3998	c.1160A>C	c.(1159-1161)gAg>gCg	p.E387A	ABCB9_ENST00000392439.3_Missense_Mutation_p.E387A|ABCB9_ENST00000280560.8_Missense_Mutation_p.E387A|ABCB9_ENST00000540285.1_Missense_Mutation_p.E387A|ABCB9_ENST00000442028.2_Missense_Mutation_p.E387A|ABCB9_ENST00000442833.2_Missense_Mutation_p.E387A|ABCB9_ENST00000541983.1_5'Flank|ABCB9_ENST00000346530.5_Missense_Mutation_p.E387A|ABCB9_ENST00000344275.7_Missense_Mutation_p.E387A			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	387	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Poly-Glu.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CACCTCTGCCTCCTCCTCCTC	0.602																																					Ovarian(49;786 1333 9175 38236)	uc001udm.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(1159-1161)gAg>gCg		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.							106.0	78.0	87.0					12																	123430663		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123430663T>G	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1160A>C	12.37:g.123430663T>G	ENSP00000440288:p.Glu387Ala					ABCB9_uc021rfo.1_Missense_Mutation_p.E387A|ABCB9_uc021rfp.1_Missense_Mutation_p.E387A|ABCB9_uc010tai.2_5'Flank|ABCB9_uc001udo.4_Missense_Mutation_p.E387A|ABCB9_uc010taj.2_Missense_Mutation_p.E387A|ABCB9_uc001udq.3_Missense_Mutation_p.E169A|ABCB9_uc021rfq.1_Missense_Mutation_p.E387A|ABCB9_uc001udr.3_Missense_Mutation_p.E387A	p.E387A	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	5	1470	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		387			ABC transmembrane type-1.|Poly-Glu.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.1160A>C	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.815695	0.90790	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000542448;ENST00000540971;ENST00000536976;ENST00000546077	D;D;D;D;D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.0	5.0	0.66597	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	M	0.85373	2.75	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.999;0.966;0.994;0.999	D;D;P;D;D	0.85130	0.997;0.953;0.838;0.944;0.989	D	0.96356	0.9262	10	0.54805	T	0.06	-37.8604	14.3929	0.66991	0.0:0.0:0.0:1.0	.	387;387;169;387;387	B4E2J0;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	A	387;387;387;387;387;387;13;93;149;44	ENSP00000280560:E387A;ENSP00000441734:E387A;ENSP00000280559:E387A;ENSP00000376234:E387A;ENSP00000440288:E387A;ENSP00000394898:E387A;ENSP00000440244:E13A;ENSP00000441086:E93A;ENSP00000443433:E149A;ENSP00000443224:E44A	ENSP00000280560:E387A	E	-	2	0	ABCB9	121996616	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	8.008000	0.88588	1.873000	0.54277	0.459000	0.35465	GAG		0.602	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624	
FRMD6	122786	broad.mit.edu	37	14	52179253	52179253	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr14:52179253G>T	ENST00000344768.5	+	9	1029	c.833G>T	c.(832-834)gGa>gTa	p.G278V	FRMD6_ENST00000395718.2_Missense_Mutation_p.G270V|FRMD6_ENST00000554167.1_Missense_Mutation_p.G201V|FRMD6_ENST00000356218.4_Missense_Mutation_p.G270V			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	278	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					ACAAATGTTGGAAAATTGGTG	0.284																																						uc001wzd.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(832-834)gGa>gTa		Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.							95.0	99.0	98.0					14																	52179253		2201	4300	6501	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52179253G>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.833G>T	14.37:g.52179253G>T	ENSP00000343899:p.Gly278Val					FRMD6_uc001wzb.3_Missense_Mutation_p.G270V|FRMD6_uc001wzc.3_Missense_Mutation_p.G270V|FRMD6_uc001wze.3_Missense_Mutation_p.G201V|FRMD6_uc001wzf.3_5'Flank	p.G278V	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			8	1118	+	all_epithelial(31;0.0163)|Breast(41;0.089)		278			FERM.		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.833G>T	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853765	0.91355	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197	D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18	5.76	5.76	0.90799	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.92815	0.7715	M	0.75264	2.295	0.80722	D	1	P;P;D	0.55385	0.694;0.928;0.971	P;P;P	0.61070	0.452;0.883;0.861	D	0.92419	0.5944	10	0.54805	T	0.06	.	19.9658	0.97266	0.0:0.0:1.0:0.0	.	201;278;270	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	V	270;270;278;201;8	ENSP00000348550:G270V;ENSP00000379068:G270V;ENSP00000343899:G278V;ENSP00000451977:G201V;ENSP00000451157:G8V	ENSP00000343899:G278V	G	+	2	0	FRMD6	51249003	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.728000	0.98792	2.721000	0.93114	0.591000	0.81541	GGA		0.284	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330	
PLEKHH1	57475	broad.mit.edu	37	14	68026397	68026397	+	Missense_Mutation	SNP	A	A	C			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr14:68026397A>C	ENST00000329153.5	+	5	544	c.412A>C	c.(412-414)Aag>Cag	p.K138Q		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	138						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GGTGACACTCAAGTTGGCAAA	0.537																																						uc001xjl.1																			0				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19						c.(412-414)Aag>Cag		Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.							70.0	76.0	74.0					14																	68026397		1927	4137	6064	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68026397A>C	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.412A>C	14.37:g.68026397A>C	ENSP00000330278:p.Lys138Gln						p.K138Q	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	4	554	+			138					A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.412A>C	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028721	0.75504	.	.	ENSG00000054690	ENST00000329153	T	0.38077	1.16	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.59432	0.2193	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62826	-0.6772	10	0.62326	D	0.03	-26.3212	13.0364	0.58875	1.0:0.0:0.0:0.0	.	138	Q9ULM0	PKHH1_HUMAN	Q	138	ENSP00000330278:K138Q	ENSP00000330278:K138Q	K	+	1	0	PLEKHH1	67096150	1.000000	0.71417	0.931000	0.37212	0.641000	0.38312	7.550000	0.82173	2.270000	0.75569	0.459000	0.35465	AAG		0.537	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054	
FBLN5	10516	broad.mit.edu	37	14	92403398	92403398	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr14:92403398G>A	ENST00000342058.4	-	4	865	c.272C>T	c.(271-273)cCg>cTg	p.P91L	FBLN5_ENST00000556154.1_Missense_Mutation_p.P96L|FBLN5_ENST00000267620.10_Missense_Mutation_p.P132L	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	91					cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGCTGGGTACGGACCTgagta	0.532																																						uc010aue.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28						c.(394-396)cCg>cTg		Homo sapiens fibulin 5 (FBLN5), mRNA.							103.0	97.0	99.0					14																	92403398		2203	4300	6503	SO:0001583	missense	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92403398G>A	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.272C>T	14.37:g.92403398G>A	ENSP00000345008:p.Pro91Leu					FBLN5_uc010aud.3_Missense_Mutation_p.P96L|FBLN5_uc001xzx.4_Missense_Mutation_p.P91L	p.P132L	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN			4	868	-		all_cancers(154;0.0722)	91			EGF-like 2; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	ENST00000342058.4	37	c.395C>T	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136028	0.37728	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154;ENST00000554468	D;D;D;D	0.82803	-1.59;-1.65;-1.61;-1.63	5.05	5.05	0.67936	.	0.149974	0.43260	D	0.000581	T	0.63861	0.2547	N	0.08118	0	0.23975	N	0.996295	B;B;B	0.23058	0.079;0.0;0.0	B;B;B	0.11329	0.006;0.0;0.0	T	0.51395	-0.8711	10	0.37606	T	0.19	.	7.313	0.26485	0.1402:0.0:0.8598:0.0	.	132;96;91	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	L	132;91;96;91	ENSP00000267620:P132L;ENSP00000345008:P91L;ENSP00000451982:P96L;ENSP00000451486:P91L	ENSP00000267620:P188L	P	-	2	0	FBLN5	91473151	1.000000	0.71417	0.600000	0.28864	0.977000	0.68977	4.367000	0.59498	2.640000	0.89533	0.561000	0.74099	CCG		0.532	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1		
TMCO5A	145942	broad.mit.edu	37	15	38233922	38233922	+	Silent	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:38233922C>T	ENST00000319669.4	+	7	597	c.495C>T	c.(493-495)ctC>ctT	p.L165L	TMCO5A_ENST00000558158.1_Silent_p.L165L|TMCO5A_ENST00000540944.1_Silent_p.L165L|TMCO5A_ENST00000559502.1_Silent_p.L165L	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	165						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						ATCAAGCCCTCTACATAAAGG	0.363																																						uc001zjw.3																			0		p.L165P(1)		central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						c.(493-495)ctC>ctT		Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.							90.0	88.0	88.0					15																	38233922		2200	4297	6497	SO:0001819	synonymous_variant	145942					integral to membrane		g.chr15:38233922C>T	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.495C>T	15.37:g.38233922C>T						TMCO5A_uc001zjv.1_Silent_p.L165L|TMCO5A_uc010bbc.1_Silent_p.L165L	p.L165L	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN			6	597	+			165					Q8NA63	Silent	SNP	ENST00000319669.4	37	c.495C>T	CCDS10046.1																																																																																				0.363	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453	
MAP1A	4130	broad.mit.edu	37	15	43816806	43816806	+	Silent	SNP	T	T	C			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:43816806T>C	ENST00000300231.5	+	4	3585	c.3135T>C	c.(3133-3135)gcT>gcC	p.A1045A	MAP1A_ENST00000399453.1_Silent_p.A1045A|MAP1A_ENST00000382031.1_Silent_p.A1283A			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1045					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGATGCTGCTGAGGAGACAG	0.572																																						uc001zrt.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(3133-3135)gcT>gcC		Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	Estramustine(DB01196)						47.0	52.0	50.0					15																	43816806		2016	4173	6189	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816806T>C	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3135T>C	15.37:g.43816806T>C							p.A1045A	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	3	3602	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1045					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.3135T>C	CCDS42031.1																																																																																				0.572	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
SENP8	123228	broad.mit.edu	37	15	72432114	72432114	+	Silent	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:72432114C>T	ENST00000542035.2	+	2	483	c.150C>T	c.(148-150)caC>caT	p.H50H	SENP8_ENST00000544411.1_Silent_p.H50H|RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000340912.4_Silent_p.H50H|SENP8_ENST00000544171.1_Silent_p.H50H	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	50	Protease.						cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						GCTCTGATCACGTCAGTTTCA	0.478																																						uc021spq.1																			0		p.D49H(1)		breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						c.(148-150)caC>caT		Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.							164.0	143.0	150.0					15																	72432114		2199	4297	6496	SO:0001819	synonymous_variant	123228				proteolysis		cysteine-type peptidase activity|protein binding	g.chr15:72432114C>T	BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"""NEDD8-specific protease 1"", ""sentrin/SUMO-specific protease SENP8"", ""deneddylase 1"""	608659	"""protease, cysteine, 2 (NEDD8 specific)"", ""SUMO/sentrin specific protease family member 8"""	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.150C>T	15.37:g.72432114C>T						SENP8_uc021spr.1_Silent_p.H50H|SENP8_uc021sps.1_Silent_p.H50H|SENP8_uc021spt.1_Silent_p.H50H|SENP8_uc002atp.3_Silent_p.H50H|SENP8_uc021spu.1_Silent_p.H50H	p.H50H	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN			1	483	+			50			Protease.		Q96QA4	Silent	SNP	ENST00000542035.2	37	c.150C>T	CCDS10240.1																																																																																				0.478	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1	NM_145204	
LRRK1	79705	broad.mit.edu	37	15	101528988	101528988	+	Missense_Mutation	SNP	C	C	T	rs201889926		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:101528988C>T	ENST00000388948.3	+	5	942	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	LRRK1_ENST00000284395.5_Missense_Mutation_p.R192C|LRRK1_ENST00000532029.2_Missense_Mutation_p.R195C	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTCATCGTGCGCTTGCCCCT	0.607													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19934	0.0		0.0	False		,,,				2504	0.0					uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(583-585)Cgc>Tgc		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.		C	CYS/ARG	0,4156		0,0,2078	52.0	54.0	53.0		583	3.4	1.0	15		53	1,8391		0,1,4195	no	missense	LRRK1	NM_024652.3	180	0,1,6273	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	195/2016	101528988	1,12547	2078	4196	6274	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101528988C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.583C>T	15.37:g.101528988C>T	ENSP00000373600:p.Arg195Cys					LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Missense_Mutation_p.R195C	p.R195C	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	902	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		195						Missense_Mutation	SNP	ENST00000388948.3	37	c.583C>T	CCDS42086.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.51	3.841418	0.71488	0.0	1.19E-4	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.73258	-0.73;-0.22;2.74	5.5	3.44	0.39384	Ankyrin repeat-containing domain (3);	0.144814	0.43260	D	0.000586	T	0.72843	0.3511	N	0.24115	0.695	0.20196	N	0.999927	D;D	0.89917	0.997;1.0	P;D	0.74674	0.642;0.984	T	0.66212	-0.5980	10	0.59425	D	0.04	.	13.3587	0.60644	0.394:0.606:0.0:0.0	.	195;195	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	C	195;192;195	ENSP00000373600:R195C;ENSP00000284395:R192C;ENSP00000433268:R195C	ENSP00000284395:R192C	R	+	1	0	LRRK1	99346511	0.996000	0.38824	0.986000	0.45419	0.992000	0.81027	2.020000	0.41010	1.301000	0.44836	0.650000	0.86243	CGC		0.607	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
ZNF646	9726	broad.mit.edu	37	16	31091658	31091658	+	Missense_Mutation	SNP	G	G	A	rs201923917		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr16:31091658G>A	ENST00000394979.2	+	1	4436	c.4013G>A	c.(4012-4014)cGc>cAc	p.R1338H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1338H			O15015	ZN646_HUMAN	zinc finger protein 646	1338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TACTCCAACCGCATGGCCCTG	0.697																																						uc002eap.3																			0		p.N1337I(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(4012-4014)cGc>cAc		Homo sapiens zinc finger protein 646 (ZNF646), mRNA.							52.0	48.0	50.0					16																	31091658		2197	4299	6496	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31091658G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4013G>A	16.37:g.31091658G>A	ENSP00000378429:p.Arg1338His					ZNF646_uc021tgu.1_Missense_Mutation_p.R1338H	p.R1338H	NM_014699	NP_055514	O15015	ZN646_HUMAN			1	4302	+			1338					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.4013G>A		.	.	.	.	.	.	.	.	.	.	G	12.53	1.964384	0.34659	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.53206	0.63;0.63	5.13	3.14	0.36123	.	.	.	.	.	T	0.31606	0.0802	L	0.41632	1.29	0.25692	N	0.98567	B	0.28082	0.2	B	0.15052	0.012	T	0.17379	-1.0371	9	0.15066	T	0.55	-4.5811	6.5074	0.22202	0.0842:0.0:0.4818:0.434	.	1338	O15015-2	.	H	1338	ENSP00000300850:R1338H;ENSP00000378429:R1338H	ENSP00000300850:R1338H	R	+	2	0	ZNF646	30999159	0.000000	0.05858	0.998000	0.56505	0.972000	0.66771	-0.471000	0.06631	0.715000	0.32103	0.561000	0.74099	CGC		0.697	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699	
CDH13	1012	broad.mit.edu	37	16	83704446	83704446	+	Missense_Mutation	SNP	G	G	A	rs371866515		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr16:83704446G>A	ENST00000566620.1	+	9	1443	c.1153G>A	c.(1153-1155)Gtt>Att	p.V385I	CDH13_ENST00000268613.10_Missense_Mutation_p.V432I|CDH13_ENST00000428848.3_Missense_Mutation_p.V346I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	385	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CAATTTGACAGTTGAAGATAA	0.478																																						uc010vns.2																			0				large_intestine(1)	1						c.(1294-1296)Gtt>Att		Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,3916		0,0,1958	92.0	91.0	91.0		1294,1036,391,1153	5.8	0.8	16		91	2,8282		0,2,4140	no	missense,missense,missense,missense	CDH13	NM_001220488.1,NM_001220489.1,NM_001220490.1,NM_001257.4	29,29,29,29	0,2,6098	AA,AG,GG		0.0241,0.0,0.0164	probably-damaging,probably-damaging,probably-damaging,probably-damaging	432/761,346/675,131/460,385/714	83704446	2,12198	1958	4142	6100	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83704446G>A	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1153G>A	16.37:g.83704446G>A	ENSP00000454435:p.Val385Ile					CDH13_uc002fgx.3_Missense_Mutation_p.V385I|CDH13_uc010vnt.2_Missense_Mutation_p.V131I|CDH13_uc010vnu.2_Missense_Mutation_p.V346I	p.V432I	NM_001220488	NP_001207417	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	9	1558	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	385			Cadherin 3.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1294G>A	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888840	0.91814	0.0	2.41E-4	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.53206	0.63	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72771	0.3502	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.91635	0.999;0.992;0.992	T	0.74185	-0.3747	9	0.52906	T	0.07	.	18.9266	0.92548	0.0:0.0:1.0:0.0	.	346;432;385	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	I	432;385;346;87;75	ENSP00000268613:V432I	ENSP00000268613:V432I	V	+	1	0	CDH13	82261947	1.000000	0.71417	0.765000	0.31456	0.983000	0.72400	6.064000	0.71169	2.717000	0.92951	0.585000	0.79938	GTT		0.478	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
MYO15A	51168	broad.mit.edu	37	17	18025430	18025430	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:18025430C>T	ENST00000205890.5	+	2	3654	c.3316C>T	c.(3316-3318)Cgg>Tgg	p.R1106W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1106					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1106W(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGGGGTGAACGGCGCCAGGC	0.672																																						uc021trm.1																			1	Substitution - Missense(1)	p.R1106W(2)	large_intestine(1)	breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(3316-3318)Cgg>Tgg		Homo sapiens myosin XVA (MYO15A), mRNA.							40.0	46.0	44.0					17																	18025430		1976	4148	6124	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025430C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3316C>T	17.37:g.18025430C>T	ENSP00000205890:p.Arg1106Trp					MYO15A_uc021trl.1_Missense_Mutation_p.R1106W	p.R1106W	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			0	3535	+	all_neural(463;0.228)		1106			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3316C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	9.815	1.184092	0.21870	.	.	ENSG00000091536	ENST00000205890	D	0.88509	-2.39	4.95	-3.5	0.04710	.	.	.	.	.	T	0.79540	0.4463	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.66160	-0.5993	9	0.87932	D	0	.	8.2602	0.31779	0.6634:0.2524:0.0:0.0842	.	1106	Q9UKN7	MYO15_HUMAN	W	1106	ENSP00000205890:R1106W	ENSP00000205890:R1106W	R	+	1	2	MYO15A	17966155	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.681000	0.01937	-0.488000	0.06726	-0.521000	0.04368	CGG		0.672	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
TP53I13	90313	broad.mit.edu	37	17	27899640	27899640	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:27899640C>G	ENST00000301057.7	+	6	1109	c.994C>G	c.(994-996)Cgg>Ggg	p.R332G	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	332						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GCTCTGCACACGGCTGCACAG	0.682																																						uc002hee.3																			0				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4						c.(994-996)Cgg>Ggg		Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.							8.0	9.0	9.0					17																	27899640		2116	4220	6336	SO:0001583	missense	90313					cytoplasm|integral to membrane|plasma membrane		g.chr17:27899640C>G	AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.994C>G	17.37:g.27899640C>G	ENSP00000301057:p.Arg332Gly						p.R332G	NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN		READ - Rectum adenocarcinoma(3;0.236)	5	1032	+			332					Q7L5U3	Missense_Mutation	SNP	ENST00000301057.7	37	c.994C>G	CCDS42289.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625448	0.28889	.	.	ENSG00000167543	ENST00000301057;ENST00000378818	.	.	.	4.52	1.13	0.20643	.	0.075170	0.53938	D	0.000052	T	0.75347	0.3837	M	0.73598	2.24	0.41455	D	0.988007	D	0.89917	1.0	D	0.91635	0.999	T	0.76055	-0.3099	9	0.87932	D	0	-21.9014	11.2351	0.48936	0.4764:0.5235:0.0:0.0	.	332	Q8NBR0	P5I13_HUMAN	G	332;99	.	ENSP00000301057:R332G	R	+	1	2	TP53I13	24923766	0.717000	0.27966	0.705000	0.30386	0.995000	0.86356	1.249000	0.32839	0.180000	0.19960	0.462000	0.41574	CGG		0.682	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2	NM_138349	
NF1	4763	broad.mit.edu	37	17	29556164	29556164	+	Missense_Mutation	SNP	T	T	C	rs137854566		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:29556164T>C	ENST00000358273.4	+	21	2914	c.2531T>C	c.(2530-2532)cTt>cCt	p.L844P	NF1_ENST00000356175.3_Missense_Mutation_p.L844P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	844			L -> F (in NF1; dbSNP:rs199474785). {ECO:0000269|PubMed:10980545, ECO:0000269|PubMed:15060124}.|L -> P (in NF1; dbSNP:rs137854566). {ECO:0000269|PubMed:15060124}.|L -> R (in NF1; sporadic; dbSNP:rs137854566). {ECO:0000269|PubMed:12522551, ECO:0000269|PubMed:15948193, ECO:0000269|PubMed:9150739}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTGGCTTCCTTTGTGCCCTT	0.517			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM040780|CM971041	NF1	M	rs137854566	c.(2530-2532)cTt>cCt		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							35.0	32.0	33.0					17																	29556164		2203	4297	6500	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556164T>C		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2531T>C	17.37:g.29556164T>C	ENSP00000351015:p.Leu844Pro	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Missense_Mutation_p.L844P|NF1_uc010csn.2_Missense_Mutation_p.L704P|NF1_uc002hgi.1_5'UTR	p.L844P	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	20	2914	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	844		L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2531T>C	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.284471	0.80803	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.36878	1.43;1.58;1.23	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.78049	2.395	0.80722	D	1	D;D;P	0.89917	1.0;0.997;0.93	D;D;P	0.91635	0.999;0.994;0.831	T	0.67341	-0.5695	10	0.87932	D	0	.	15.7546	0.78013	0.0:0.0:0.0:1.0	.	844;844;844	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	P	844;844;510	ENSP00000351015:L844P;ENSP00000348498:L844P;ENSP00000389907:L510P	ENSP00000348498:L844P	L	+	2	0	NF1	26580290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.662000	0.83803	2.127000	0.65507	0.454000	0.30748	CTT		0.517	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
SLFN11	91607	broad.mit.edu	37	17	33680901	33680901	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:33680901C>G	ENST00000394566.1	-	6	1648	c.1376G>C	c.(1375-1377)tGt>tCt	p.C459S	SLFN11_ENST00000308377.4_Missense_Mutation_p.C459S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	459					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGAGCATCACAGATGACTCC	0.488																																						uc002hjg.4																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(1375-1377)tGt>tCt		Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.							58.0	55.0	56.0					17																	33680901		2203	4298	6501	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33680901C>G	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.1376G>C	17.37:g.33680901C>G	ENSP00000378067:p.Cys459Ser					SLFN11_uc010ctr.3_Missense_Mutation_p.C459S|SLFN11_uc010ctp.3_Missense_Mutation_p.C459S|SLFN11_uc010ctq.3_Missense_Mutation_p.C459S|SLFN11_uc002hjh.4_Missense_Mutation_p.C459S	p.C459S	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	1623	-		Ovarian(249;0.17)	459					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.1376G>C	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221315	0.58560	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.02737	4.18;4.18	3.54	3.54	0.40534	.	0.000000	0.49916	D	0.000121	T	0.15652	0.0377	M	0.87682	2.9	0.31521	N	0.66241	D	0.89917	1.0	D	0.87578	0.998	T	0.02877	-1.1099	10	0.87932	D	0	.	10.7966	0.46464	0.0:1.0:0.0:0.0	.	459	Q7Z7L1	SLN11_HUMAN	S	459	ENSP00000312402:C459S;ENSP00000378067:C459S	ENSP00000312402:C459S	C	-	2	0	SLFN11	30705014	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	4.762000	0.62250	1.978000	0.57642	0.650000	0.86243	TGT		0.488	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270	
SLFN13	146857	broad.mit.edu	37	17	33769128	33769128	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:33769128C>G	ENST00000285013.6	-	5	1651	c.1376G>C	c.(1375-1377)tGt>tCt	p.C459S	SLFN13_ENST00000534689.1_Missense_Mutation_p.C141S|SLFN13_ENST00000542635.1_Missense_Mutation_p.C459S|SLFN13_ENST00000526861.1_Missense_Mutation_p.C459S|SLFN13_ENST00000360502.2_Missense_Mutation_p.C141S|SLFN13_ENST00000533791.1_Missense_Mutation_p.C459S	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	459						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGAGCATCACAGATGACTCC	0.527																																						uc002hjk.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(1375-1377)tGt>tCt		Homo sapiens schlafen family member 13 (SLFN13), mRNA.							92.0	81.0	85.0					17																	33769128		2203	4298	6501	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33769128C>G	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1376G>C	17.37:g.33769128C>G	ENSP00000285013:p.Cys459Ser					SLFN13_uc010wch.1_Missense_Mutation_p.C459S|SLFN13_uc002hjl.2_Missense_Mutation_p.C459S|SLFN13_uc002hjm.2_Missense_Mutation_p.C128S|SLFN13_uc010ctt.2_Missense_Mutation_p.C141S	p.C459S	NM_144682	NP_653283	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	2	1706	-			459					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.1376G>C	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	c	16.21	3.057554	0.55325	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689;ENST00000532210	T;T;T;T;T;T	0.24538	4.19;3.61;4.19;4.19;3.61;1.85	3.05	3.05	0.35203	.	0.000000	0.50627	D	0.000113	T	0.50922	0.1644	M	0.85777	2.775	0.33271	D	0.561012	D;D	0.89917	1.0;0.981	D;D	0.91635	0.999;0.95	T	0.66472	-0.5915	10	0.87932	D	0	.	9.7287	0.40348	0.0:1.0:0.0:0.0	.	141;459	Q68D06-2;Q68D06	.;SLN13_HUMAN	S	459;141;459;459;141;128	ENSP00000285013:C459S;ENSP00000353692:C141S;ENSP00000434439:C459S;ENSP00000444016:C459S;ENSP00000435442:C141S;ENSP00000435328:C128S	ENSP00000285013:C459S	C	-	2	0	SLFN13	30793241	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	4.677000	0.61634	1.713000	0.51359	0.194000	0.17425	TGT		0.527	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682	
KRT34	3885	broad.mit.edu	37	17	39535641	39535641	+	Silent	SNP	G	G	A	rs145615462	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:39535641G>A	ENST00000394001.1	-	5	996	c.966C>T	c.(964-966)aaC>aaT	p.N322N		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	322	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCTCCAGGGCGTTGACTGTGC	0.597													g|||	3	0.000599042	0.0	0.0	5008	,	,		23289	0.002		0.001	False		,,,				2504	0.0					uc002hwm.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(964-966)aaC>aaT		Homo sapiens keratin 34 (KRT34), mRNA.		G		1,4405	825.9+/-416.6	0,1,2202	124.0	101.0	109.0		966	-3.9	1.0	17	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	KRT34	NM_021013.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		322/437	39535641	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39535641G>A	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.966C>T	17.37:g.39535641G>A							p.N322N	NM_021013	NP_066293	O76011	KRT34_HUMAN			4	978	-		Breast(137;0.000496)	322			Coil 2.|Rod.		Q8IUT8|Q8N4W2	Silent	SNP	ENST00000394001.1	37	c.966C>T	CCDS11390.1																																																																																				0.597	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013	
DDX5	1655	broad.mit.edu	37	17	62496298	62496298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:62496298delT	ENST00000225792.5	-	13	1989	c.1588delA	c.(1588-1590)actfs	p.T530fs	MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Frame_Shift_Del_p.T451fs|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Frame_Shift_Del_p.T530fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	530	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCATTCTGAGTTTTTGCCCCA	0.413			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc010deh.2				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(1588-1590)actfs		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.							135.0	141.0	139.0					17																	62496298		2203	4300	6503	SO:0001589	frameshift_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62496298delT	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1588delA	17.37:g.62496298delT	ENSP00000225792:p.Thr530fs					DDX5_uc002jek.2_Frame_Shift_Del_p.T530fs|DDX5_uc002jej.2_Frame_Shift_Del_p.T425fs|DDX5_uc010wqa.1_Frame_Shift_Del_p.T451fs	p.T530fs	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		12	1631	-	Breast(5;2.15e-14)		530					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Frame_Shift_Del	DEL	ENST00000225792.5	37	c.1588delA	CCDS11659.1																																																																																				0.413	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	
C1QTNF1	114897	broad.mit.edu	37	17	77043872	77043872	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:77043872G>A	ENST00000339142.2	+	5	1103	c.548G>A	c.(547-549)gGc>gAc	p.G183D	C1QTNF1_ENST00000580474.1_Missense_Mutation_p.G183D|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.G101D|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.G101D|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.G183D|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.G183D|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.G183D|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.G183D|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.G193D|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.G183D	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	183	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			ATGTTCACCGGCAAGTTCTAC	0.547																																						uc002jwt.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(841-843)gGc>gAc		Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.							174.0	157.0	163.0					17																	77043872		2203	4300	6503	SO:0001583	missense	114897					collagen		g.chr17:77043872G>A	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.548G>A	17.37:g.77043872G>A	ENSP00000340864:p.Gly183Asp					C1QTNF1_uc002jwp.3_Missense_Mutation_p.G183D|C1QTNF1_uc002jwq.3_Missense_Mutation_p.G101D|C1QTNF1_uc002jwr.4_Missense_Mutation_p.G193D|C1QTNF1_uc002jws.3_Missense_Mutation_p.G183D	p.G281D	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		2	924	+			183			C1q.		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.842G>A	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797864	0.90538	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.68025	-0.3;-0.3;-0.3	4.72	4.72	0.59763	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.64402	D	0.000001	D	0.88518	0.6458	H	0.97365	3.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93062	0.6475	10	0.87932	D	0	.	17.6634	0.88198	0.0:0.0:1.0:0.0	.	193;193;183	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	D	183;101;193;183;193	ENSP00000340864:G183D;ENSP00000311265:G101D;ENSP00000343230:G193D	ENSP00000311265:G101D	G	+	2	0	C1QTNF1	74555467	1.000000	0.71417	0.751000	0.31187	0.980000	0.70556	9.778000	0.99011	2.148000	0.66965	0.561000	0.74099	GGC		0.547	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968	
MTCL1	23255	broad.mit.edu	37	18	8807023	8807023	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr18:8807023G>A	ENST00000306329.11	+	9	3526	c.3526G>A	c.(3526-3528)Gtg>Atg	p.V1176M	SOGA2_ENST00000518815.1_Missense_Mutation_p.V172M|SOGA2_ENST00000517570.1_Missense_Mutation_p.V816M|SOGA2_ENST00000306285.7_Missense_Mutation_p.V172M|SOGA2_ENST00000400050.3_Missense_Mutation_p.V816M|SOGA2_ENST00000359865.3_Missense_Mutation_p.V857M																							GGCCTGGGACGTGGAGTGGGC	0.637																																						uc002knr.2																			0											c.(2569-2571)Gtg>Atg		Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.							80.0	61.0	67.0					18																	8807023		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8807023G>A																												ENST00000306329.11:c.3526G>A	18.37:g.8807023G>A	ENSP00000305027:p.Val1176Met					SOGA2_uc002knq.2_Missense_Mutation_p.V816M|SOGA2_uc002kns.2_Missense_Mutation_p.V187M	p.V857M	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			10	2711	+			1167						Missense_Mutation	SNP	ENST00000306329.11	37	c.2569G>A		.	.	.	.	.	.	.	.	.	.	G	17.79	3.477118	0.63849	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.87	4.1	0.47936	.	0.280095	0.25860	N	0.027821	T	0.62073	0.2398	L	0.41961	1.31	0.41219	D	0.986498	D;D	0.89917	0.982;1.0	B;D	0.79108	0.194;0.992	T	0.57596	-0.7784	10	0.30078	T	0.28	-23.7475	12.3011	0.54874	0.1357:0.0:0.8643:0.0	.	1167;857	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	M	878;816;857;816;172	ENSP00000429556:V816M;ENSP00000352927:V857M;ENSP00000382924:V816M;ENSP00000303670:V172M	ENSP00000303670:V172M	V	+	1	0	CCDC165	8797023	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	1.694000	0.37752	0.837000	0.34925	0.655000	0.94253	GTG		0.637	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1		
NKG7	4818	broad.mit.edu	37	19	51875671	51875671	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr19:51875671G>A	ENST00000221978.5	-	1	298	c.119C>T	c.(118-120)tCg>tTg	p.S40L	NKG7_ENST00000595217.1_Missense_Mutation_p.S40L|NKG7_ENST00000600427.1_Missense_Mutation_p.S40L	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	40						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCAGAGGCCCGAGTGAGCTGA	0.607																																						uc002pwj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(118-120)tCg>tTg		Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.							121.0	115.0	117.0					19																	51875671		2203	4300	6503	SO:0001583	missense	4818					integral to plasma membrane		g.chr19:51875671G>A		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.119C>T	19.37:g.51875671G>A	ENSP00000221978:p.Ser40Leu					NKG7_uc002pwk.3_Missense_Mutation_p.S40L	p.S40L	NM_005601	NP_005592	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	0	290	-		all_neural(266;0.0199)	40						Missense_Mutation	SNP	ENST00000221978.5	37	c.119C>T	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672131	0.47781	.	.	ENSG00000105374	ENST00000221978	T	0.07021	3.23	4.98	2.84	0.33178	.	0.200469	0.25189	N	0.032471	T	0.12944	0.0314	M	0.66939	2.045	0.27478	N	0.952676	D	0.69078	0.997	P	0.48795	0.59	T	0.08973	-1.0696	10	0.66056	D	0.02	.	6.094	0.20010	0.0946:0.0:0.7202:0.1852	.	40	Q16617	NKG7_HUMAN	L	40	ENSP00000221978:S40L	ENSP00000221978:S40L	S	-	2	0	NKG7	56567483	0.069000	0.21087	0.332000	0.25469	0.175000	0.22909	0.886000	0.28241	0.702000	0.31825	-0.310000	0.09108	TCG		0.607	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601	
MARCO	8685	broad.mit.edu	37	2	119732140	119732140	+	Splice_Site	SNP	G	G	A	rs374483780		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr2:119732140G>A	ENST00000327097.4	+	6	747	c.612G>A	c.(610-612)gcG>gcA	p.A204A	MARCO_ENST00000541757.1_Splice_Site_p.A126A	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	204	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGGAGAGGCGGGTGAGTAGG	0.572																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						c.e6+1		Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	61.0	64.0	63.0		612	-5.4	0.8	2		63	0,8600		0,0,4300	no	coding-synonymous-near-splice	MARCO	NM_006770.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		204/521	119732140	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119732140G>A	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.613+1G>A	2.37:g.119732140G>A						MARCO_uc010yyf.1_Splice_Site_p.G127_splice	p.G205_splice	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			6	745	+			205			Collagen-like.		B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	37	c.613_splice	CCDS2124.1																																																																																				0.572	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	Silent
C2orf80	389073	broad.mit.edu	37	2	209036767	209036767	+	Silent	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr2:209036767C>T	ENST00000341287.4	-	7	594	c.399G>A	c.(397-399)ttG>ttA	p.L133L	C2orf80_ENST00000451346.1_Silent_p.L114L|C2orf80_ENST00000453017.1_Intron	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	133										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CAAAGGGGTGCAAGGAGAGGC	0.478																																						uc002vcr.3																			0				endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						c.(397-399)ttG>ttA		Homo sapiens chromosome 2 open reading frame 80 (C2orf80), mRNA.							218.0	223.0	221.0					2																	209036767		1940	4153	6093	SO:0001819	synonymous_variant	389073							g.chr2:209036767C>T	AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"""gonad development associated 1"""	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.399G>A	2.37:g.209036767C>T							p.L133L	NM_001099334	NP_001092804	Q0P641	CB080_HUMAN			6	571	-			133					A6NKZ3	Silent	SNP	ENST00000341287.4	37	c.399G>A	CCDS42809.1	.	.	.	.	.	.	.	.	.	.	C	2.548	-0.304662	0.05495	.	.	ENSG00000188674	ENST00000428015	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	T	0.71298	0.3323	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69254	-0.5193	4	.	.	.	-2.4356	15.5974	0.76595	0.0:1.0:0.0:0.0	.	.	.	.	T	85	.	.	A	-	1	0	C2orf80	208745012	0.997000	0.39634	1.000000	0.80357	0.201000	0.24016	2.076000	0.41548	2.737000	0.93849	0.557000	0.71058	GCA		0.478	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334	
ITCH	83737	broad.mit.edu	37	20	32981637	32981637	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:32981637A>G	ENST00000262650.6	+	3	156	c.20A>G	c.(19-21)cAa>cGa	p.Q7R	ITCH_ENST00000374864.4_Missense_Mutation_p.Q7R|ITCH_ENST00000535650.1_5'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	7	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGTGGATCACAACTTGGTTCA	0.378																																						uc010geu.1																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(19-21)cAa>cGa		Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.							185.0	161.0	169.0					20																	32981637		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:32981637A>G	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.20A>G	20.37:g.32981637A>G	ENSP00000262650:p.Gln7Arg					ITCH_uc002xak.2_Missense_Mutation_p.Q7R|ITCH_uc010zuj.1_5'UTR	p.Q7R	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			2	212	+			7			C2.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.20A>G	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	A	3.708	-0.060113	0.07317	.	.	ENSG00000078747	ENST00000374864;ENST00000262650	T;T	0.27402	1.67;2.08	5.07	3.94	0.45596	.	4.215730	0.00639	N	0.000513	T	0.07503	0.0189	N	0.00116	-2.08	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.55354	-0.8154	10	0.02654	T	1	.	8.0318	0.30470	0.8964:0.0:0.1035:0.0	.	7;7	Q96J02;Q5QP37	ITCH_HUMAN;.	R	7	ENSP00000363998:Q7R;ENSP00000262650:Q7R	ENSP00000262650:Q7R	Q	+	2	0	ITCH	32445298	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.944000	0.40263	2.129000	0.65627	0.533000	0.62120	CAA		0.378	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2		
RPRD1B	58490	broad.mit.edu	37	20	36668949	36668949	+	Silent	SNP	T	T	C			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:36668949T>C	ENST00000373433.4	+	2	666	c.264T>C	c.(262-264)gcT>gcC	p.A88A		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	88	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TTGTGGATGCTTTTTCTCATG	0.353																																						uc002xho.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(262-264)gcT>gcC		Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.							257.0	240.0	246.0					20																	36668949		2203	4300	6503	SO:0001819	synonymous_variant	58490							g.chr20:36668949T>C	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.264T>C	20.37:g.36668949T>C							p.A88A	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN			1	666	+			88			CID.		Q1WDE7|Q6PKF4	Silent	SNP	ENST00000373433.4	37	c.264T>C	CCDS13301.1																																																																																				0.353	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215	
HNF4A	3172	broad.mit.edu	37	20	43057004	43057004	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:43057004C>T	ENST00000316099.4	+	9	1248	c.1159C>T	c.(1159-1161)Cac>Tac	p.H387Y	HNF4A_ENST00000415691.2_Missense_Mutation_p.H387Y|HNF4A_ENST00000457232.1_Missense_Mutation_p.H365Y|HNF4A_ENST00000316673.4_Missense_Mutation_p.H365Y	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	387					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCATGCCCACCACCCCCTGCA	0.587																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(1159-1161)Cac>Tac		Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.							113.0	85.0	94.0					20																	43057004		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43057004C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1159C>T	20.37:g.43057004C>T	ENSP00000312987:p.His387Tyr					HNF4A_uc002xlu.3_Missense_Mutation_p.H365Y|HNF4A_uc002xlv.3_Missense_Mutation_p.H365Y|HNF4A_uc010ggq.3_Missense_Mutation_p.H380Y|HNF4A_uc002xlz.3_Missense_Mutation_p.H387Y	p.H387Y	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		8	1248	+		Myeloproliferative disorder(115;0.0122)	387					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.1159C>T	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627740	0.87560	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000338692;ENST00000415691	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.93	5.93	0.95920	.	0.153888	0.64402	D	0.000020	T	0.81531	0.4842	M	0.77616	2.38	0.80722	D	1	B;B;P;D;D	0.58970	0.005;0.005;0.949;0.972;0.984	B;B;B;P;P	0.53861	0.013;0.009;0.424;0.703;0.736	T	0.80346	-0.1421	10	0.41790	T	0.15	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	380;387;387;365;365	Q5QPB7;P41235;F1D8S2;F1D8T0;P41235-6	.;HNF4A_HUMAN;.;.;.	Y	365;365;387;417;387	ENSP00000315180:H365Y;ENSP00000396216:H365Y;ENSP00000312987:H387Y;ENSP00000412111:H387Y	ENSP00000312987:H387Y	H	+	1	0	HNF4A	42490418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.794000	0.85869	2.814000	0.96858	0.563000	0.77884	CAC		0.587	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3		
KCNB1	3745	broad.mit.edu	37	20	48098546	48098546	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:48098546G>A	ENST00000371741.4	-	1	638	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	158					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TCGCCTTCCCGCTCCCGTAGG	0.582																																						uc002xur.1																			0		p.R158L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(472-474)Cgg>Tgg		Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.							173.0	141.0	152.0					20																	48098546		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:48098546G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.472C>T	20.37:g.48098546G>A	ENSP00000360806:p.Arg158Trp					KCNB1_uc002xus.1_Missense_Mutation_p.R158W	p.R158W	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		0	638	-			158					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.472C>T	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774548	0.49786	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96685	-4.09	5.15	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.97309	0.9120	M	0.67397	2.05	0.58432	D	0.999999	D	0.76494	0.999	D	0.68621	0.959	D	0.97675	1.0169	10	0.87932	D	0	.	12.9275	0.58268	0.0:0.0:0.652:0.348	.	158	Q14721	KCNB1_HUMAN	W	158;113	ENSP00000360806:R158W	ENSP00000360806:R158W	R	-	1	2	KCNB1	47531953	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	2.892000	0.48625	1.380000	0.46344	-0.311000	0.09066	CGG		0.582	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975	
CHEK2	11200	broad.mit.edu	37	22	29091840	29091841	+	Missense_Mutation	DNP	TG	TG	CA	rs142470496|rs146546850	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr22:29091840_29091841TG>CA	ENST00000405598.1	-	12	1307_1308	c.1116_1117CA>TG	c.(1114-1119)tcCAag>tcTGag	p.K373E	CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCAA	0.416			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			17	Substitution - Missense(9)|Substitution - coding silent(8)	p.K373E(18)|p.S372S(16)	kidney(8)|prostate(4)|endometrium(2)|central_nervous_system(2)|stomach(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(1114-1119)tccaag>tcTGag	Direct reversal of damage;Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840_29091841TG>CA	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116_1117delinsCA	22.37:g.29091840_29091841delinsCA	ENSP00000386087:p.Lys373Glu					CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	p.K373E	NM_007194	NP_009125	O96017	CHK2_HUMAN			10	1188_1189	-			373			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	DNP	ENST00000405598.1	37	c.1116_1117CA>TG	CCDS13843.1																																																																																				0.416	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	
C22orf23	84645	broad.mit.edu	37	22	38341090	38341090	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr22:38341090C>T	ENST00000249079.2	-	5	696	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	C22orf23_ENST00000403026.1_Missense_Mutation_p.R147Q|C22orf23_ENST00000403305.1_Missense_Mutation_p.R147Q			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	147										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					AGCCTTCTGTCGTGCAGGAGG	0.562																																						uc003auj.2																			0				endometrium(3)|kidney(2)|large_intestine(7)	12						c.(439-441)cGa>cAa		Homo sapiens chromosome 22 open reading frame 23 (C22orf23), transcript variant 1, mRNA.							149.0	145.0	146.0					22																	38341090		2203	4300	6503	SO:0001583	missense	84645							g.chr22:38341090C>T	AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.440G>A	22.37:g.38341090C>T	ENSP00000249079:p.Arg147Gln					C22orf23_uc021wpl.1_Missense_Mutation_p.R126Q	p.R147Q	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN			4	649	-	Melanoma(58;0.045)		147					Q5JYU9|Q96M68	Missense_Mutation	SNP	ENST00000249079.2	37	c.440G>A	CCDS13962.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.555293	0.27739	.	.	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026;ENST00000418863	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.27	-8.7	0.00851	.	0.863230	0.09848	N	0.747992	T	0.12263	0.0298	N	0.05124	-0.11	0.09310	N	1	B	0.18741	0.03	B	0.06405	0.002	T	0.27054	-1.0085	10	0.06625	T	0.88	0.4848	4.9621	0.14072	0.0952:0.2711:0.0942:0.5395	.	147	Q9BZE7	EVG1_HUMAN	Q	147	ENSP00000384667:R147Q;ENSP00000249079:R147Q;ENSP00000384618:R147Q;ENSP00000395077:R147Q	ENSP00000249079:R147Q	R	-	2	0	C22orf23	36671036	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-3.555000	0.00432	-1.501000	0.01817	0.655000	0.94253	CGA		0.562	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319564.1	NM_032561	
RNF168	165918	broad.mit.edu	37	3	196214417	196214417	+	Missense_Mutation	SNP	T	T	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr3:196214417T>G	ENST00000318037.3	-	3	1005	c.411A>C	c.(409-411)gaA>gaC	p.E137D		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	137	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTTTGTTTTCTTCTTCCTCGC	0.433																																						uc003fwq.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(409-411)gaA>gaC		Homo sapiens ring finger protein 168 (RNF168), mRNA.							191.0	177.0	182.0					3																	196214417		2202	4299	6501	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196214417T>G	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.411A>C	3.37:g.196214417T>G	ENSP00000320898:p.Glu137Asp					RNF168_uc010iah.3_5'UTR	p.E137D	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	2	1006	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		137			Glu-rich.		Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.411A>C	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.990999	0.74703	.	.	ENSG00000163961	ENST00000318037	T	0.09911	2.93	5.41	3.03	0.35002	.	0.000000	0.64402	D	0.000020	T	0.27349	0.0671	M	0.77616	2.38	0.29370	N	0.864034	D	0.76494	0.999	D	0.68192	0.956	T	0.07731	-1.0757	10	0.56958	D	0.05	-13.8403	6.6908	0.23169	0.1365:0.0753:0.0:0.7882	.	137	Q8IYW5	RN168_HUMAN	D	137	ENSP00000320898:E137D	ENSP00000320898:E137D	E	-	3	2	RNF168	197698814	0.992000	0.36948	0.995000	0.50966	0.856000	0.48823	-0.012000	0.12699	0.500000	0.27991	0.533000	0.62120	GAA		0.433	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617	
PPEF2	5470	broad.mit.edu	37	4	76811138	76811138	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr4:76811138G>A	ENST00000286719.7	-	5	745	c.389C>T	c.(388-390)gCc>gTc	p.A130V	PPEF2_ENST00000510607.1_5'Flank	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	130	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCTACCAGGGCAGTTGCATG	0.522																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(388-390)gCc>gTc		Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.							219.0	194.0	203.0					4																	76811138		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76811138G>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.389C>T	4.37:g.76811138G>A	ENSP00000286719:p.Ala130Val					PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.A130V	p.A130V	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		4	746	-			130			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.389C>T	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429163	0.83776	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.46063	0.88	4.8	4.8	0.61643	Serine/threonine phosphatase, PPP5 (1);	0.269740	0.37809	N	0.001922	T	0.63604	0.2525	M	0.75447	2.3	0.52501	D	0.999958	D;D	0.89917	0.991;1.0	P;D	0.91635	0.894;0.999	T	0.63386	-0.6649	10	0.35671	T	0.21	-3.4223	15.3613	0.74478	0.0:0.0:1.0:0.0	.	130;130	O14830-2;O14830	.;PPE2_HUMAN	V	130	ENSP00000286719:A130V	ENSP00000286719:A130V	A	-	2	0	PPEF2	77030162	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	4.542000	0.60677	2.227000	0.72691	0.313000	0.20887	GCC		0.522	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	
FHDC1	85462	broad.mit.edu	37	4	153897134	153897134	+	Silent	SNP	A	A	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr4:153897134A>G	ENST00000511601.1	+	12	2879	c.2691A>G	c.(2689-2691)tcA>tcG	p.S897S	FHDC1_ENST00000260008.3_Silent_p.S897S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	897									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TGACCGCCTCAGAGAACGAGA	0.692																																						uc003inf.2																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2689-2691)tcA>tcG		Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.							30.0	34.0	33.0					4																	153897134		2202	4299	6501	SO:0001819	synonymous_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153897134A>G	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2691A>G	4.37:g.153897134A>G							p.S897S	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			10	2766	+	all_hematologic(180;0.093)		897						Silent	SNP	ENST00000511601.1	37	c.2691A>G	CCDS34081.1																																																																																				0.692	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393	
FSTL5	56884	broad.mit.edu	37	4	162680612	162680614	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr4:162680612_162680614delATC	ENST00000306100.5	-	6	1112_1114	c.676_678delGAT	c.(676-678)gatdel	p.D226del	FSTL5_ENST00000427802.2_In_Frame_Del_p.D225del|FSTL5_ENST00000536695.1_In_Frame_Del_p.D225del|FSTL5_ENST00000379164.4_In_Frame_Del_p.D225del	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	226	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGCATTAAAATCATCATATTTC	0.34																																						uc003iqh.3																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(676-678)gatdel		Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	56884					extracellular region	calcium ion binding	g.chr4:162680612_162680614delATC	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.676_678delGAT	4.37:g.162680615_162680617delATC	ENSP00000305334:p.Asp226del					FSTL5_uc003iqi.3_In_Frame_Del_p.D225del|FSTL5_uc010iqv.3_In_Frame_Del_p.D225del	p.D226del	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	1112_1114	-	all_hematologic(180;0.24)		226			EF-hand 2.		E9PCP6|Q9NSW7|Q9ULF7	In_Frame_Del	DEL	ENST00000306100.5	37	c.676_678delGAT	CCDS3802.1																																																																																				0.340	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	
ADCY2	108	broad.mit.edu	37	5	7706894	7706894	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:7706894C>T	ENST00000338316.4	+	8	1236	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C	ADCY2_ENST00000537121.1_Missense_Mutation_p.R203C|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	383					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATCAACATGCGCGTGGGCGT	0.473																																						uc003jdz.1																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1147-1149)Cgc>Tgc		Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.							274.0	241.0	252.0					5																	7706894		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7706894C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1147C>T	5.37:g.7706894C>T	ENSP00000342952:p.Arg383Cys					ADCY2_uc011cmo.1_Missense_Mutation_p.R203C	p.R383C	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			7	1214	+			383					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1147C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862584	0.91511	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.88277	-2.36;-2.36	5.29	5.29	0.74685	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.97269	0.9107	H	0.99156	4.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99167	1.0863	10	0.87932	D	0	.	18.964	0.92687	0.0:1.0:0.0:0.0	.	203;383	B7Z2C1;Q08462	.;ADCY2_HUMAN	C	383;234;203	ENSP00000342952:R383C;ENSP00000444803:R203C	ENSP00000342952:R383C	R	+	1	0	ADCY2	7759894	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.771000	0.68881	2.480000	0.83734	0.655000	0.94253	CGC		0.473	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
C6	729	broad.mit.edu	37	5	41149449	41149449	+	Silent	SNP	G	G	A	rs567176554	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:41149449G>A	ENST00000263413.3	-	17	2781	c.2517C>T	c.(2515-2517)gaC>gaT	p.D839D	C6_ENST00000337836.5_Silent_p.D839D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	839	C5b-binding domain.|Factor I module (FIM) 1.|Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|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)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGGCGGCCGTCTTGGCAGG	0.418													G|||	4	0.000798722	0.0023	0.0	5008	,	,		17945	0.0		0.001	False		,,,				2504	0.0					uc003jmk.2																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2515-2517)gaC>gaT		Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.							137.0	135.0	135.0					5																	41149449		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41149449G>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2517C>T	5.37:g.41149449G>A						C6_uc003jml.1_Silent_p.D839D	p.D839D	NM_000065	NP_001108603	P13671	CO6_HUMAN			16	2727	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	839			C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.			Silent	SNP	ENST00000263413.3	37	c.2517C>T	CCDS3936.1																																																																																				0.418	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
CSF2	1437	broad.mit.edu	37	5	131409540	131409540	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:131409540delC	ENST00000296871.2	+	1	58	c.24delC	c.(22-24)ctcfs	p.L9fs		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	9					cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|embryonic placenta development (GO:0001892)|epithelial fluid transport (GO:0042045)|immune response (GO:0006955)|macrophage activation (GO:0042116)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of podosome assembly (GO:0071803)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	granulocyte macrophage colony-stimulating factor receptor binding (GO:0005129)			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCTGCTGCTCTTGGGCACTG	0.597																																						uc003kwf.3																			0				skin(1)	1						c.(22-24)ctcfs		Homo sapiens colony stimulating factor 2 (granulocyte-macrophage) (CSF2), mRNA.	Sargramostim(DB00020)						30.0	35.0	33.0					5																	131409540		2202	4297	6499	SO:0001589	frameshift_variant	1437				immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity	g.chr5:131409540delC	M11734	CCDS4150.1	5q23-q31	2012-10-02			ENSG00000164400	ENSG00000164400			2434	protein-coding gene	gene with protein product	"""sargramostim"", ""molgramostin"", ""granulocyte-macrophage colony stimulating factor"""	138960				3898082, 2999978	Standard	NM_000758		Approved	GM-CSF, GMCSF	uc003kwf.4	P04141	OTTHUMG00000059637	ENST00000296871.2:c.24delC	5.37:g.131409540delC	ENSP00000296871:p.Leu9fs						p.L8fs	NM_000758	NP_000749	P04141	CSF2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		0	56	+		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	8					Q14CE8|Q2VPI8|Q8NFI6	Frame_Shift_Del	DEL	ENST00000296871.2	37	c.24delC	CCDS4150.1																																																																																				0.597	CSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132636.2	NM_000758	
PCDHB7	56129	broad.mit.edu	37	5	140553608	140553608	+	Missense_Mutation	SNP	G	G	A	rs267600426		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:140553608G>A	ENST00000231137.3	+	1	1366	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	398	Cadherin 4. {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.E398K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCATCTGTCGAAAACTTCTA	0.493																																						uc003lit.3																			1	Substitution - Missense(1)	p.E398K(2)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1192-1194)Gaa>Aaa		Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.							77.0	78.0	78.0					5																	140553608		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553608G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1192G>A	5.37:g.140553608G>A	ENSP00000231137:p.Glu398Lys						p.E398K	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1366	+			398			Cadherin 4.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1192G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.338376	0.01287	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.50813	0.73	4.61	1.55	0.23275	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22589	0.0545	N	0.11313	0.125	0.09310	N	1	B	0.21147	0.052	B	0.24701	0.055	T	0.22556	-1.0213	9	0.17832	T	0.49	.	1.9689	0.03402	0.2013:0.268:0.3937:0.137	.	398	Q9Y5E2	PCDB7_HUMAN	K	398;181	ENSP00000231137:E398K	ENSP00000231137:E398K	E	+	1	0	PCDHB7	140533792	0.967000	0.33354	0.665000	0.29768	0.148000	0.21650	2.313000	0.43735	0.456000	0.26937	0.650000	0.86243	GAA		0.493	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
GEMIN5	25929	broad.mit.edu	37	5	154311130	154311130	+	Silent	SNP	A	A	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:154311130A>G	ENST00000285873.7	-	5	744	c.669T>C	c.(667-669)gcT>gcC	p.A223A		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	223					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGTAATTTCAGCTTCTTCTA	0.358																																						uc003lvx.3																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(667-669)gcT>gcC		Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.							128.0	114.0	119.0					5																	154311130		2203	4300	6503	SO:0001819	synonymous_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154311130A>G	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.669T>C	5.37:g.154311130A>G						GEMIN5_uc011ddk.1_Silent_p.A222A	p.A223A	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		4	752	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	223					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	c.669T>C	CCDS4330.1																																																																																				0.358	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		
GABRG2	2566	broad.mit.edu	37	5	161524703	161524703	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:161524703C>A	ENST00000361925.4	+	4	607	c.387C>A	c.(385-387)aaC>aaA	p.N129K	GABRG2_ENST00000393933.4_Missense_Mutation_p.N34K|GABRG2_ENST00000356592.3_Missense_Mutation_p.N129K|GABRG2_ENST00000414552.2_Missense_Mutation_p.N129K			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	129					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGAAATTTAACAGCACCATTA	0.353																																						uc010jjc.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(385-387)aaC>aaA		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.							94.0	95.0	95.0					5																	161524703		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161524703C>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.387C>A	5.37:g.161524703C>A	ENSP00000354651:p.Asn129Lys					GABRG2_uc003lyy.4_Missense_Mutation_p.N129K|GABRG2_uc003lyz.4_Missense_Mutation_p.N129K|GABRG2_uc011dej.2_Missense_Mutation_p.N34K	p.N129K	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	3	745	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	129					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.387C>A	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	c	14.49	2.550693	0.45383	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	5.81	3.12	0.35913	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.82240	0.4994	L	0.52126	1.63	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.986;0.994;0.991	T	0.77376	-0.2611	10	0.07482	T	0.82	.	9.0392	0.36307	0.0:0.7241:0.0:0.2759	.	129;129;129	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	K	129;129;129;34;34	ENSP00000349000:N129K;ENSP00000410732:N129K;ENSP00000354651:N129K;ENSP00000377510:N34K;ENSP00000430182:N34K	ENSP00000349000:N129K	N	+	3	2	GABRG2	161457281	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.636000	0.46545	0.399000	0.25367	-0.260000	0.10688	AAC		0.353	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
TENM2	57451	broad.mit.edu	37	5	167626105	167626105	+	Missense_Mutation	SNP	G	G	A	rs140215976	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:167626105G>A	ENST00000518659.1	+	16	3187	c.3148G>A	c.(3148-3150)Gtg>Atg	p.V1050M	TENM2_ENST00000545108.1_Missense_Mutation_p.V1050M|TENM2_ENST00000403607.2_Missense_Mutation_p.V874M|TENM2_ENST00000520394.1_Missense_Mutation_p.V818M|TENM2_ENST00000519204.1_Missense_Mutation_p.V929M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1050					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GAATCCCATCGTGCCTGAGAC	0.587													G|||	24	0.00479233	0.0174	0.0014	5008	,	,		17793	0.0		0.0	False		,,,				2504	0.0					uc010jjd.3																			0		p.Q1040*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122						c.(3121-3123)Gtg>Atg		Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.		G	MET/VAL	54,3902		0,54,1924	49.0	49.0	49.0		3121	5.8	1.0	5	dbSNP_134	49	1,8339		0,1,4169	yes	missense	ODZ2	NM_001122679.1	21	0,55,6093	AA,AG,GG		0.012,1.365,0.4473	probably-damaging	1041/2766	167626105	55,12241	1978	4170	6148	SO:0001583	missense	57451							g.chr5:167626105G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3148G>A	5.37:g.167626105G>A	ENSP00000429430:p.Val1050Met					ODZ2_uc003lzr.4_Missense_Mutation_p.V818M|ODZ2_uc003lzt.4_Missense_Mutation_p.V414M|ODZ2_uc010jje.3_Missense_Mutation_p.V312M	p.V1041M	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	15	3121	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3121G>A		11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	G	19.97	3.924509	0.73213	0.01365	1.2E-4	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90504	-2.21;-2.19;-2.31;-2.66;-2.68	5.75	5.75	0.90469	.	0.169799	0.51477	D	0.000081	D	0.89181	0.6642	L	0.55481	1.735	0.46874	D	0.999231	D;D;D	0.61697	0.99;0.983;0.985	P;P;B	0.60068	0.868;0.741;0.33	D	0.90389	0.4394	10	0.66056	D	0.02	.	19.9417	0.97165	0.0:0.0:1.0:0.0	.	1050;1050;818	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	1050;1050;929;818;874	ENSP00000429430:V1050M;ENSP00000438635:V1050M;ENSP00000428964:V929M;ENSP00000427874:V818M;ENSP00000384905:V874M	ENSP00000384905:V874M	V	+	1	0	ODZ2	167558683	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.295000	0.78780	2.720000	0.93068	0.655000	0.94253	GTG		0.587	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
ADAMTS2	9509	broad.mit.edu	37	5	178556986	178556986	+	Missense_Mutation	SNP	C	C	T	rs537171944		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:178556986C>T	ENST00000251582.7	-	16	2505	c.2404G>A	c.(2404-2406)Ggc>Agc	p.G802S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	802	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTCTCCCGGCCGTCCTCGTCT	0.602																																						uc003mjw.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2404-2406)Ggc>Agc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							111.0	104.0	106.0					5																	178556986		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178556986C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2404G>A	5.37:g.178556986C>T	ENSP00000251582:p.Gly802Ser						p.G802S	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	15	2506	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	802			Spacer.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2404G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665010	0.29604	.	.	ENSG00000087116	ENST00000251582	T	0.49432	0.78	5.05	5.05	0.67936	ADAM-TS Spacer 1 (1);	0.503501	0.17701	N	0.164904	T	0.33556	0.0867	L	0.37850	1.14	0.80722	D	1	P	0.43662	0.814	B	0.34931	0.192	T	0.16482	-1.0401	10	0.46703	T	0.11	.	9.7276	0.40342	0.0:0.8391:0.0:0.1609	.	802	O95450	ATS2_HUMAN	S	802	ENSP00000251582:G802S	ENSP00000251582:G802S	G	-	1	0	ADAMTS2	178489592	0.167000	0.22975	0.889000	0.34880	0.602000	0.36980	3.941000	0.56607	2.519000	0.84933	0.456000	0.33151	GGC		0.602	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
PCLO	27445	broad.mit.edu	37	7	82764629	82764629	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:82764629T>C	ENST00000333891.9	-	3	2574	c.2237A>G	c.(2236-2238)aAg>aGg	p.K746R	PCLO_ENST00000423517.2_Missense_Mutation_p.K746R	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						AACAGGGGCCTTGTCCTGCTC	0.512																																						uc003uhx.2																			0				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						c.(2236-2238)aAg>aGg		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							129.0	119.0	122.0					7																	82764629		1929	4127	6056	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.chr7:82764629T>C	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.2237A>G	7.37:g.82764629T>C	ENSP00000334319:p.Lys746Arg					PCLO_uc003uhv.2_Missense_Mutation_p.K746R	p.K746R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	2526	-			692			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2237A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	2.868	-0.234654	0.05983	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18960	2.18;2.18	5.83	2.19	0.27852	.	.	.	.	.	T	0.15998	0.0385	L	0.36672	1.1	0.27741	N	0.944473	B;B	0.14438	0.01;0.01	B;B	0.14023	0.01;0.01	T	0.20174	-1.0283	9	0.87932	D	0	.	6.1044	0.20065	0.1211:0.1322:0.0:0.7467	.	746;746	Q9Y6V0-5;Q9Y6V0-6	.;.	R	692;746;746	ENSP00000334319:K746R;ENSP00000388393:K746R	ENSP00000334319:K746R	K	-	2	0	PCLO	82602565	0.829000	0.29322	0.333000	0.25482	0.239000	0.25481	1.232000	0.32636	0.452000	0.26830	-0.346000	0.07831	AAG		0.512	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	86415655	86415655	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:86415655C>T	ENST00000361669.2	+	3	1646	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R183C|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R55C|GRM3_ENST00000394720.2_Missense_Mutation_p.R181C|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	183					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)	p.R183C(1)		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)					TGATAAGTCGCGCTATGATTA	0.562																																					GBM(52;969 1098 3139 52280)	uc003uid.3																			1	Substitution - Missense(1)	p.R183C(2)|p.S182L(1)	pancreas(1)	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						c.(547-549)Cgc>Tgc		Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	Acamprosate(DB00659)|Nicotine(DB00184)						134.0	129.0	131.0					7																	86415655		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415655C>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.547C>T	7.37:g.86415655C>T	ENSP00000355316:p.Arg183Cys					GRM3_uc010lef.3_Missense_Mutation_p.R181C|GRM3_uc010leg.3_Missense_Mutation_p.R55C|GRM3_uc010leh.3_Intron	p.R183C	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1646	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		183					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.547C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837511	0.91117	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94722	0.8297	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.95413	0.8500	10	0.87932	D	0	.	19.122	0.93367	0.0:1.0:0.0:0.0	.	55;183;183	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	C	183;55;55;183;181	ENSP00000355316:R183C;ENSP00000405427:R55C;ENSP00000441407:R55C;ENSP00000398767:R183C;ENSP00000378209:R181C	ENSP00000355316:R183C	R	+	1	0	GRM3	86253591	1.000000	0.71417	0.968000	0.41197	0.981000	0.71138	4.667000	0.61561	2.770000	0.95276	0.655000	0.94253	CGC		0.562	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
CALD1	800	broad.mit.edu	37	7	134552500	134552500	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:134552500C>T	ENST00000361675.2	+	3	245	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	CALD1_ENST00000417172.1_Missense_Mutation_p.R6C|CALD1_ENST00000422748.1_Missense_Mutation_p.R6C|CALD1_ENST00000361388.2_Missense_Mutation_p.R6C|CALD1_ENST00000361901.2_Missense_Mutation_p.R6C			Q05682	CALD1_HUMAN	caldesmon 1	6					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TGATTTTGAGCGTCGCAGAGA	0.433																																						uc003vrz.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(16-18)Cgt>Tgt		Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.							84.0	78.0	80.0					7																	134552500		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134552500C>T	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.16C>T	7.37:g.134552500C>T	ENSP00000354826:p.Arg6Cys					CALD1_uc003vry.3_Missense_Mutation_p.R6C|CALD1_uc003vsb.3_Missense_Mutation_p.R6C|CALD1_uc011kpt.2_5'UTR|CALD1_uc010lmm.3_Missense_Mutation_p.R6C	p.R6C	NM_033138	NP_149129	Q05682	CALD1_HUMAN			2	482	+			6					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.16C>T	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854965	0.51376	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000454108;ENST00000361675;ENST00000361901;ENST00000445569;ENST00000435928	T;T;T;T;T;T	0.63417	0.83;-0.04;0.9;0.92;0.3;0.83	5.6	5.6	0.85130	.	0.301725	0.23265	N	0.050090	T	0.70482	0.3229	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.994;0.997;0.997;0.994;0.994	T	0.73984	-0.3810	10	0.72032	D	0.01	-0.0794	19.2264	0.93819	0.0:1.0:0.0:0.0	.	6;6;6;6;6	A8K0X1;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;CALD1_HUMAN;.	C	6	ENSP00000398826:R6C;ENSP00000411476:R6C;ENSP00000355000:R6C;ENSP00000395710:R6C;ENSP00000354826:R6C;ENSP00000354513:R6C	ENSP00000355000:R6C	R	+	1	0	CALD1	134203040	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.639000	0.67868	2.611000	0.88343	0.655000	0.94253	CGT		0.433	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	
MGAM	8972	broad.mit.edu	37	7	141747587	141747587	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:141747587G>A	ENST00000549489.2	+	22	2596	c.2501G>A	c.(2500-2502)cGa>cAa	p.R834Q	MGAM_ENST00000475668.2_Missense_Mutation_p.R834Q	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	834	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R834Q(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCCACAGTCGAAAGAACCCT	0.413																																						uc003vwy.3																			6	Substitution - Missense(6)	p.R834Q(6)	lung(3)|endometrium(3)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2500-2502)cGa>cAa		Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						75.0	66.0	69.0					7																	141747587		1902	4145	6047	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141747587G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2501G>A	7.37:g.141747587G>A	ENSP00000447378:p.Arg834Gln						p.R834Q	NM_004668	NP_004659	O43451	MGA_HUMAN			21	2555	+	Melanoma(164;0.0272)		834			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2501G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	37	6.253343	0.97417	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91180	-2.8	5.37	5.37	0.77165	.	0.169950	0.28252	N	0.016029	D	0.96923	0.8995	H	0.95574	3.69	0.43673	D	0.996101	D	0.89917	1.0	D	0.97110	1.0	D	0.98008	1.0364	10	0.87932	D	0	.	17.8675	0.88800	0.0:0.0:1.0:0.0	.	834	O43451	MGA_HUMAN	Q	834;834;711	ENSP00000447378:R834Q	ENSP00000316431:R711Q	R	+	2	0	MGAM	141394056	1.000000	0.71417	0.404000	0.26397	0.887000	0.51463	8.365000	0.90108	2.528000	0.85240	0.650000	0.86243	CGA		0.413	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
AGAP3	116988	broad.mit.edu	37	7	150840450	150840450	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:150840450C>T	ENST00000463381.1	+	15	1799	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	AGAP3_ENST00000397238.2_Missense_Mutation_p.R766W	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	730	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACGCTGGATACGGGCCAAGTA	0.622																																						uc003wjg.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2296-2298)Cgg>Tgg		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.							49.0	56.0	53.0					7																	150840450		2119	4246	6365	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840450C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1303C>T	7.37:g.150840450C>T	ENSP00000418016:p.Arg435Trp					AGAP3_uc003wje.1_Missense_Mutation_p.R435W|AGAP3_uc003wjj.1_Missense_Mutation_p.R265W|AGAP3_uc003wjk.1_Missense_Mutation_p.R184W	p.R766W	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			16	2299	+			730					B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2296C>T		.	.	.	.	.	.	.	.	.	.	C	19.38	3.816242	0.70912	.	.	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	T;T	0.50548	0.74;0.74	5.28	3.4	0.38934	.	0.068783	0.64402	D	0.000013	T	0.77478	0.4136	H	0.98027	4.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.993;0.99;0.975	T	0.82878	-0.0239	10	0.87932	D	0	.	9.7714	0.40591	0.1385:0.788:0.0:0.0735	.	730;265;766;435	Q96P47;E7ETI2;Q96P47-4;B3KNZ8	AGAP3_HUMAN;.;.;.	W	435;265;766;730	ENSP00000418016:R435W;ENSP00000380413:R766W	ENSP00000334157:R730W	R	+	1	2	AGAP3	150471383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.716000	0.54904	1.458000	0.47871	0.655000	0.94253	CGG		0.622	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946	
CDCA2	157313	broad.mit.edu	37	8	25319665	25319665	+	Missense_Mutation	SNP	C	C	T	rs142497699	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr8:25319665C>T	ENST00000330560.3	+	4	805	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	CDCA2_ENST00000380665.3_Missense_Mutation_p.R95W	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	110					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTTCATTGCTCGGCAGCAAAA	0.423																																						uc003xep.1																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(328-330)Cgg>Tgg		Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.		C	TRP/ARG	10,4396	16.8+/-37.8	1,8,2194	97.0	98.0	98.0		328	4.5	1.0	8	dbSNP_134	98	0,8600		0,0,4300	yes	missense	CDCA2	NM_152562.2	101	1,8,6494	TT,TC,CC		0.0,0.227,0.0769	probably-damaging	110/1024	25319665	10,12996	2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25319665C>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.328C>T	8.37:g.25319665C>T	ENSP00000328228:p.Arg110Trp					DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.R110W|CDCA2_uc003xeq.1_Missense_Mutation_p.R95W	p.R110W	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	3	805	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	110					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.328C>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216438	0.58452	0.00227	0.0	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.34667	1.35;1.35	5.4	4.52	0.55395	.	0.389705	0.20703	N	0.087238	T	0.30293	0.0760	L	0.29908	0.895	0.33302	D	0.564981	D;P;P	0.56968	0.978;0.923;0.923	B;B;B	0.43916	0.319;0.436;0.436	T	0.48692	-0.9013	10	0.87932	D	0	-5.2524	12.1538	0.54064	0.0:0.8276:0.1724:0.0	.	110;95;110	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	W	110;95	ENSP00000328228:R110W;ENSP00000370040:R95W	ENSP00000328228:R110W	R	+	1	2	CDCA2	25375582	0.998000	0.40836	1.000000	0.80357	0.746000	0.42486	1.546000	0.36179	1.254000	0.44035	0.313000	0.20887	CGG		0.423	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562	
ACRC	93953	broad.mit.edu	37	X	70830624	70830624	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chrX:70830624C>T	ENST00000373695.1	+	10	2242	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.R569C			Q96QF7	ACRC_HUMAN	acidic repeat containing	569	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AAAGTGGCGGCGCTTTGCCAA	0.517																																						uc004eae.2																			0		p.R568W(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1705-1707)Cgc>Tgc		Homo sapiens acidic repeat containing (ACRC), mRNA.							108.0	75.0	86.0					X																	70830624		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70830624C>T	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1705C>T	X.37:g.70830624C>T	ENSP00000362799:p.Arg569Cys					BCYRN1_uc011mpt.1_Intron	p.R569C	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			10	2206	+	Renal(35;0.156)		569					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1705C>T	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187331	0.57909	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.36157	1.27;1.27	5.44	3.68	0.42216	Domain of unknown function SprT-like (2);	.	.	.	.	T	0.40196	0.1107	L	0.55743	1.74	0.58432	D	0.999995	P	0.52316	0.952	P	0.49276	0.605	T	0.21143	-1.0254	9	0.87932	D	0	.	9.2225	0.37386	0.0:0.8181:0.0:0.1819	.	569	Q96QF7	ACRC_HUMAN	C	569	ENSP00000362800:R569C;ENSP00000362799:R569C	ENSP00000362799:R569C	R	+	1	0	ACRC	70747349	1.000000	0.71417	0.020000	0.16555	0.007000	0.05969	3.436000	0.52856	0.488000	0.27723	-0.287000	0.09952	CGC		0.517	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1		
