#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RLF	6018	broad.mit.edu	37	1	40668129	40668129	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:40668129G>A	ENST00000372771.4	+	5	680	c.653G>A	c.(652-654)cGa>cAa	p.R218Q		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	218					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CTGCAAATGCGAATAAAACAT	0.333																																						uc001cfc.3		NA																	0				ovary(2)|pancreas(1)	3						c.(652-654)CGA>CAA		rearranged L-myc fusion							77.0	76.0	77.0					1																	40668129		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40668129G>A		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.653G>A	1.37:g.40668129G>A	ENSP00000361857:p.Arg218Gln						p.R218Q	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		5	684	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	218					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.653G>A	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776532	0.90195	.	.	ENSG00000117000	ENST00000372771	T	0.52526	0.66	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	M	0.79258	2.445	0.50039	D	0.999849	D	0.89917	1.0	D	0.78314	0.991	T	0.75328	-0.3356	10	0.87932	D	0	-7.763	18.5314	0.90993	0.0:0.0:1.0:0.0	.	218	Q13129	RLF_HUMAN	Q	218	ENSP00000361857:R218Q	ENSP00000361857:R218Q	R	+	2	0	RLF	40440716	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.076000	0.76806	2.462000	0.83206	0.313000	0.20887	CGA		0.333	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		21	88	0	0	0	0	21	88				
MSH4	4438	broad.mit.edu	37	1	76378560	76378560	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:76378560G>T	ENST00000263187.3	+	20	2903	c.2799G>T	c.(2797-2799)aaG>aaT	p.K933N		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	933					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCCAGAAAAGACTGAAGAAT	0.303								Mismatch excision repair (MMR)																														uc001dhd.1		NA																	0				lung(3)|ovary(2)	5						c.(2797-2799)AAG>AAT	MMR	mutS homolog 4							36.0	38.0	38.0					1																	76378560		2203	4298	6501	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76378560G>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2799G>T	1.37:g.76378560G>T	ENSP00000263187:p.Lys933Asn						p.K933N	NM_002440	NP_002431	O15457	MSH4_HUMAN			20	2840	+			933					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.2799G>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	4.774	0.143943	0.09134	.	.	ENSG00000057468	ENST00000263187	D	0.88586	-2.4	5.22	-4.15	0.03881	.	1.024570	0.07729	N	0.944879	T	0.64260	0.2582	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54629	-0.8265	10	0.66056	D	0.02	-15.7814	3.6391	0.08160	0.1301:0.4291:0.1578:0.283	.	933	O15457	MSH4_HUMAN	N	933	ENSP00000263187:K933N	ENSP00000263187:K933N	K	+	3	2	MSH4	76151148	0.000000	0.05858	0.005000	0.12908	0.210000	0.24377	-0.960000	0.03849	-1.067000	0.03160	0.467000	0.42956	AAG		0.303	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		9	38	1	0	1.34e-11	1.63e-11	9	38				
GBP7	388646	broad.mit.edu	37	1	89618020	89618020	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:89618020C>T	ENST00000294671.2	-	5	694	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	186	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AACTTCAGCTCCAGGGTAAAA	0.478																																						uc001dna.2		NA																	0				ovary(1)|skin(1)	2						c.(556-558)GAG>AAG		guanylate binding protein 4-like							139.0	139.0	139.0					1																	89618020		2203	4300	6503	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89618020C>T	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.556G>A	1.37:g.89618020C>T	ENSP00000294671:p.Glu186Lys					GBP2_uc001dmy.1_5'Flank	p.E186K	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	5	695	-		Lung NSC(277;0.0908)	186						Missense_Mutation	SNP	ENST00000294671.2	37	c.556G>A	CCDS720.1	.	.	.	.	.	.	.	.	.	.	C	7.906	0.735465	0.15574	.	.	ENSG00000213512	ENST00000294671	T	0.75367	-0.93	3.37	2.41	0.29592	Guanylate-binding protein, N-terminal (1);	0.694977	0.13924	N	0.353388	T	0.54415	0.1857	L	0.51853	1.615	0.30197	N	0.798974	P	0.39737	0.685	B	0.42245	0.381	T	0.42103	-0.9471	10	0.41790	T	0.15	.	9.2008	0.37258	0.0:0.5601:0.4399:0.0	.	186	Q8N8V2	GBP7_HUMAN	K	186	ENSP00000294671:E186K	ENSP00000294671:E186K	E	-	1	0	GBP7	89390608	0.980000	0.34600	0.432000	0.26747	0.082000	0.17680	0.213000	0.17521	0.589000	0.29677	0.205000	0.17691	GAG		0.478	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		6	227	0	0	0	0	6	227				
LRIF1	55791	broad.mit.edu	37	1	111495337	111495337	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:111495337G>C	ENST00000369763.4	-	2	559	c.169C>G	c.(169-171)Cca>Gca	p.P57A	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_5'UTR|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	57					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TGAACTAGTGGTATAAGATTT	0.398																																						uc001eaa.2		NA																	0					0						c.(169-171)CCA>GCA		receptor-interacting factor 1 isoform 1							53.0	54.0	54.0					1																	111495337		2202	4299	6501	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111495337G>C	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.169C>G	1.37:g.111495337G>C	ENSP00000358778:p.Pro57Ala					C1orf103_uc001dzz.2_5'UTR|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	p.P57A	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	2	425	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	57					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.169C>G	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233099	0.58777	.	.	ENSG00000121931	ENST00000369763	T	0.70282	-0.47	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.73210	0.3558	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.76940	-0.2773	10	0.87932	D	0	-7.2888	16.942	0.86220	0.0:0.0:1.0:0.0	.	57	Q5T3J3	LRIF1_HUMAN	A	57	ENSP00000358778:P57A	ENSP00000358778:P57A	P	-	1	0	LRIF1	111296860	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	7.627000	0.83176	2.617000	0.88574	0.467000	0.42956	CCA		0.398	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		22	99	0	0	0	0	22	99				
NOTCH2	4853	broad.mit.edu	37	1	120510064	120510064	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:120510064C>G	ENST00000256646.2	-	8	1664	c.1445G>C	c.(1444-1446)tGc>tCc	p.C482S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	482	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C482F(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCTGGCATGCACAGACATGT	0.488			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - Missense(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(1444-1446)TGC>TCC		notch 2 preproprotein							151.0	150.0	150.0					1																	120510064		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120510064C>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1445G>C	1.37:g.120510064C>G	ENSP00000256646:p.Cys482Ser					NOTCH2_uc001eil.2_Missense_Mutation_p.C482S|NOTCH2_uc001eim.3_Missense_Mutation_p.C399S	p.C482S	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1701	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	482			Extracellular (Potential).|EGF-like 12; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.1445G>C	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805417	0.90623	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.99992	-12.4	5.71	5.71	0.89125	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.41396	U	0.000883	D	0.99994	0.9999	H	0.99825	4.815	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.998	D	0.99997	1.5641	10	0.87932	D	0	.	18.8332	0.92150	0.0:1.0:0.0:0.0	.	443;482;482	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	S	482;443	ENSP00000256646:C482S	ENSP00000256646:C482S	C	-	2	0	NOTCH2	120311587	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.698000	0.92095	0.650000	0.86243	TGC		0.488	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		85	247	0	0	0	0	85	247				
PSMD4	5710	broad.mit.edu	37	1	151238835	151238835	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:151238835G>A	ENST00000368884.3	+	8	895	c.815G>A	c.(814-816)cGc>cAc	p.R272H	PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	272					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTTGGCCGCACTGGGCTT	0.547																																						uc001exl.2		NA																	0					0						c.(814-816)CGC>CAC		proteasome 26S non-ATPase subunit 4																																				SO:0001583	missense	5710				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151238835G>A	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.815G>A	1.37:g.151238835G>A	ENSP00000357879:p.Arg272His					PSMD4_uc001exn.2_Missense_Mutation_p.R275H	p.R272H	NM_002810	NP_002801	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	877	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		272					D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	c.815G>A	CCDS991.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098238	0.56183	.	.	ENSG00000159352	ENST00000368884;ENST00000368881	.	.	.	5.23	5.23	0.72850	.	0.227301	0.36303	N	0.002675	T	0.40522	0.1120	L	0.29908	0.895	0.42288	D	0.992129	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23583	-1.0184	9	0.42905	T	0.14	-14.4967	18.5873	0.91194	0.0:0.0:1.0:0.0	.	275;272	Q5VWC4;P55036	.;PSMD4_HUMAN	H	272;275	.	ENSP00000357876:R275H	R	+	2	0	PSMD4	149505459	0.972000	0.33761	0.659000	0.29680	0.998000	0.95712	3.889000	0.56212	2.716000	0.92895	0.655000	0.94253	CGC		0.547	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		5	228	0	0	0	0	5	228				
ZNF687	57592	broad.mit.edu	37	1	151260750	151260750	+	Silent	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:151260750G>A	ENST00000368879.2	+	2	2081	c.1983G>A	c.(1981-1983)ccG>ccA	p.P661P		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCACAGAGCCGCCTGCTGCCC	0.637																																						uc001exq.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1981-1983)CCG>CCA		zinc finger protein 687							28.0	29.0	29.0					1																	151260750		2200	4300	6500	SO:0001819	synonymous_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151260750G>A		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1983G>A	1.37:g.151260750G>A						ZNF687_uc001exp.1_Silent_p.P670P|ZNF687_uc009wmo.2_Silent_p.P661P|ZNF687_uc009wmp.2_Silent_p.P661P	p.P661P	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	2081	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		661					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Silent	SNP	ENST00000368879.2	37	c.1983G>A		.	.	.	.	.	.	.	.	.	.	G	5.477	0.273044	0.10349	.	.	ENSG00000143373	ENST00000426871	.	.	.	4.96	-6.23	0.02052	.	.	.	.	.	T	0.16257	0.0391	.	.	.	0.37697	D	0.924071	.	.	.	.	.	.	T	0.34129	-0.9841	4	.	.	.	.	0.132	0.00074	0.3032:0.2111:0.1549:0.3308	.	.	.	.	H	264	.	.	R	+	2	0	ZNF687	149527374	0.000000	0.05858	0.117000	0.21633	0.065000	0.16274	-2.633000	0.00869	-1.604000	0.01595	-0.397000	0.06425	CGC		0.637	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		18	54	0	0	0	0	18	54				
RC3H1	149041	broad.mit.edu	37	1	173934116	173934116	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:173934116G>T	ENST00000367696.2	-	10	1828	c.1477C>A	c.(1477-1479)Ctg>Atg	p.L493M	RC3H1_ENST00000258349.4_Missense_Mutation_p.L493M|RC3H1_ENST00000367694.2_Missense_Mutation_p.L493M			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	493					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CCATTTGGCAGAGCAGGAGGT	0.483																																						uc001gju.3		NA																	0				ovary(2)	2						c.(1477-1479)CTG>ATG		roquin							149.0	137.0	141.0					1																	173934116		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173934116G>T	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1477C>A	1.37:g.173934116G>T	ENSP00000356669:p.Leu493Met					RC3H1_uc010pms.1_Missense_Mutation_p.L493M|RC3H1_uc001gjv.2_Missense_Mutation_p.L493M|RC3H1_uc010pmt.1_Missense_Mutation_p.L493M	p.L493M	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			9	1564	-			493					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.1477C>A	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549291	0.65311	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.49139	0.8;0.8;0.79	5.8	4.88	0.63580	.	0.131035	0.53938	D	0.000058	T	0.57770	0.2076	L	0.47716	1.5	0.58432	D	0.999993	D;D;D;D	0.76494	0.998;0.998;0.999;0.998	P;P;D;P	0.68192	0.905;0.905;0.956;0.905	T	0.55082	-0.8196	10	0.34782	T	0.22	-9.8513	11.2004	0.48739	0.0684:0.1292:0.8024:0.0	.	493;493;493;493	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	M	493	ENSP00000356669:L493M;ENSP00000258349:L493M;ENSP00000356667:L493M	ENSP00000258349:L493M	L	-	1	2	RC3H1	172200739	0.978000	0.34361	1.000000	0.80357	0.999000	0.98932	1.089000	0.30890	1.428000	0.47296	0.655000	0.94253	CTG		0.483	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		59	150	1	0	2.79e-41	3.56e-41	59	150				
DHX9	1660	broad.mit.edu	37	1	182827949	182827949	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:182827949G>A	ENST00000367549.3	+	10	1092	c.982G>A	c.(982-984)Ggt>Agt	p.G328S		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	328					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAACCAAGTGGGTGTGGTTCC	0.438																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2		NA																	0				ovary(2)	2						c.(982-984)GGT>AGT		DEAH (Asp-Glu-Ala-His) box polypeptide 9							117.0	105.0	109.0					1																	182827949		1897	4130	6027	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182827949G>A	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.982G>A	1.37:g.182827949G>A	ENSP00000356520:p.Gly328Ser					DHX9_uc001gps.2_Missense_Mutation_p.G114S	p.G328S	NM_001357	NP_001348	Q08211	DHX9_HUMAN			10	1145	+			328					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.982G>A	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958251	0.53400	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.08807	3.05	5.73	5.73	0.89815	.	0.165039	0.51477	D	0.000094	T	0.08980	0.0222	L	0.39326	1.205	0.80722	D	1	B	0.33512	0.415	B	0.27796	0.083	T	0.32134	-0.9918	10	0.18710	T	0.47	.	19.8803	0.96895	0.0:0.0:1.0:0.0	.	328	Q08211	DHX9_HUMAN	S	328	ENSP00000356520:G328S	ENSP00000356520:G328S	G	+	1	0	DHX9	181094572	1.000000	0.71417	0.982000	0.44146	0.999000	0.98932	8.677000	0.91203	2.854000	0.98071	0.655000	0.94253	GGT		0.438	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		48	127	0	0	0	0	48	127				
OBSCN	84033	broad.mit.edu	37	1	228480267	228480267	+	Silent	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:228480267C>T	ENST00000422127.1	+	40	10691	c.10647C>T	c.(10645-10647)gcC>gcT	p.A3549A	OBSCN_ENST00000366709.4_Silent_p.A668A|OBSCN_ENST00000284548.11_Silent_p.A3549A|OBSCN_ENST00000366707.4_Silent_p.A668A|OBSCN_ENST00000570156.2_Silent_p.A3978A|OBSCN_ENST00000359599.6_Silent_p.A2396A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3549	Ig-like 36.				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)				ACCAGGAGGCCAGAGAAGGGG	0.552																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(10645-10647)GCC>GCT		obscurin, cytoskeletal calmodulin and							83.0	84.0	84.0					1																	228480267		1958	4164	6122	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.chr1:228480267C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10647C>T	1.37:g.228480267C>T						OBSCN_uc001hsn.2_Silent_p.A3549A|OBSCN_uc001hsq.1_Silent_p.A805A	p.A3549A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			40	10691	+		Prostate(94;0.0405)	3549			Ig-like 36.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.10647C>T	CCDS58065.1																																																																																				0.552	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	216	0	0	0	0	4	216				
AGAP5	729092	broad.mit.edu	37	10	75434549	75434549	+	Missense_Mutation	SNP	G	G	C	rs571472152	byFrequency	TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr10:75434549G>C	ENST00000374094.4	-	8	1909	c.1869C>G	c.(1867-1869)gaC>gaG	p.D623E	RP11-464F9.21_ENST00000607450.1_RNA|AGAP5_ENST00000443782.2_Missense_Mutation_p.D600E|RP11-464F9.1_ENST00000399449.3_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	623					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CCGTGCAGCCGTCTCCCTCCC	0.662																																						uc009xri.2		NA																	0					0						c.(1867-1869)GAC>GAG		ArfGAP with GTPase domain, ankyrin repeat and PH							3.0	4.0	3.0					10																	75434549		75	547	622	SO:0001583	missense	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75434549G>C		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23467	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 2"""	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.1869C>G	10.37:g.75434549G>C	ENSP00000363207:p.Asp623Glu					AGAP5_uc001juu.3_Missense_Mutation_p.D584E	p.D623E	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN			8	1910	-			623			ANK 1.		A8MSN5	Missense_Mutation	SNP	ENST00000374094.4	37	c.1869C>G	CCDS44439.1	.	.	.	.	.	.	.	.	.	.	g	12.80	2.047847	0.36085	.	.	ENSG00000172650	ENST00000374094;ENST00000443782	T;T	0.35048	1.33;1.33	.	.	.	Ankyrin repeat-containing domain (4);	0.229422	0.41194	D	0.000934	T	0.41971	0.1182	L	0.37697	1.125	0.35491	D	0.799018	D	0.69078	0.997	D	0.78314	0.991	T	0.48885	-0.8995	9	0.66056	D	0.02	.	5.89	0.18904	8.0E-4:0.0:0.9992:0.0	.	623	A6NIR3	AGAP5_HUMAN	E	623;600	ENSP00000363207:D623E;ENSP00000402792:D600E	ENSP00000363207:D623E	D	-	3	2	AGAP5	75104555	1.000000	0.71417	0.098000	0.21074	0.099000	0.18886	0.564000	0.23563	0.107000	0.17824	0.109000	0.15622	GAC		0.662	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_001132585		38	223	0	0	0	0	38	223				
GBF1	8729	broad.mit.edu	37	10	104118286	104118286	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr10:104118286C>T	ENST00000369983.3	+	10	1071	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	271					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CATTGATGTGCCCACTCCCAT	0.517																																						uc001kux.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(811-813)CCC>TCC		golgi-specific brefeldin A resistant guanine							115.0	104.0	108.0					10																	104118286		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104118286C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.811C>T	10.37:g.104118286C>T	ENSP00000359000:p.Pro271Ser					GBF1_uc001kuw.2_Missense_Mutation_p.P271S|GBF1_uc001kuy.1_Missense_Mutation_p.P271S|GBF1_uc001kuz.1_Missense_Mutation_p.P271S	p.P271S	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	10	1051	+		Colorectal(252;0.0236)	271					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.811C>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431869	0.43122	.	.	ENSG00000107862	ENST00000369983	T	0.09445	2.98	6.16	3.95	0.45737	.	0.302128	0.42294	D	0.000732	T	0.06005	0.0156	N	0.13043	0.29	0.50467	D	0.999871	B;B;B;B	0.11235	0.0;0.004;0.0;0.001	B;B;B;B	0.14023	0.001;0.01;0.001;0.004	T	0.35151	-0.9800	10	0.20046	T	0.44	-12.3156	8.8212	0.35027	0.1323:0.7358:0.0:0.1319	.	271;271;271;271	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	S	271	ENSP00000359000:P271S	ENSP00000359000:P271S	P	+	1	0	GBF1	104108276	0.934000	0.31675	0.999000	0.59377	0.986000	0.74619	1.722000	0.38042	1.557000	0.49525	0.650000	0.86243	CCC		0.517	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			4	145	0	0	0	0	4	145				
TMEM80	283232	broad.mit.edu	37	11	703061	703061	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:703061G>A	ENST00000608174.1	+	5	555	c.418G>A	c.(418-420)Gcg>Acg	p.A140T	TMEM80_ENST00000397510.3_Missense_Mutation_p.A188T|TMEM80_ENST00000397512.3_Missense_Mutation_p.A132T|TMEM80_ENST00000528024.1_3'UTR	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	140						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGTTGTGGGCGGACTGGGC	0.697																																						uc001lqr.2		NA																	0					0						c.(418-420)GCG>ACG		transmembrane protein 80 isoform 2							25.0	26.0	26.0					11																	703061		2198	4292	6490	SO:0001583	missense	283232					integral to membrane		g.chr11:703061G>A		CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.418G>A	11.37:g.703061G>A	ENSP00000476563:p.Ala140Thr					TMEM80_uc001lqs.2_Missense_Mutation_p.A132T|TMEM80_uc010qwi.1_Missense_Mutation_p.A140T	p.A140T	NM_001042463	NP_001035928	Q96HE8	TMM80_HUMAN		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	555	+		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	140			Helical; (Potential).		A8MQ01|A8MXY8|B7WNU5	Missense_Mutation	SNP	ENST00000608174.1	37	c.418G>A	CCDS41587.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761028	0.31137	.	.	ENSG00000177042	ENST00000397510;ENST00000397512;ENST00000526170	D;D	0.88201	-2.35;-2.35	3.84	0.685	0.18009	.	0.307372	0.23585	N	0.046613	D	0.90844	0.7124	M	0.68317	2.08	0.09310	N	1	D;D;D	0.71674	0.998;0.996;0.998	D;P;D	0.66716	0.946;0.797;0.946	T	0.81705	-0.0811	10	0.56958	D	0.05	-0.2892	5.9922	0.19472	0.2075:0.1637:0.6288:0.0	.	115;132;140	E9PQJ9;Q96HE8-2;Q96HE8	.;.;TMM80_HUMAN	T	140;132;115	ENSP00000380646:A140T;ENSP00000380648:A132T	ENSP00000380646:A140T	A	+	1	0	TMEM80	693061	0.889000	0.30405	0.003000	0.11579	0.092000	0.18411	2.039000	0.41193	0.348000	0.23949	0.561000	0.74099	GCG		0.697	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257104.2	NM_174940		30	61	0	0	0	0	30	61				
TRAF6	7189	broad.mit.edu	37	11	36511809	36511809	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:36511809C>T	ENST00000526995.1	-	7	1394	c.1148G>A	c.(1147-1149)gGc>gAc	p.G383D	TRAF6_ENST00000348124.5_Missense_Mutation_p.G383D|TRAF6_ENST00000529150.1_5'Flank	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	383	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CCCGGGTTTGCCAGTGTAGAA	0.433																																						uc001mwr.1		NA																	0				ovary(1)	1						c.(1147-1149)GGC>GAC		TNF receptor-associated factor 6							119.0	118.0	118.0					11																	36511809		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36511809C>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1148G>A	11.37:g.36511809C>T	ENSP00000433623:p.Gly383Asp					uc001mwq.1_5'Flank|TRAF6_uc001mws.1_Missense_Mutation_p.G383D	p.G383D	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN			8	1488	-	all_lung(20;0.211)	all_hematologic(20;0.107)	383			MATH.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.1148G>A	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822518	0.90873	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.42131	0.98;0.98	5.46	5.46	0.80206	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.66317	0.2777	M	0.77616	2.38	0.80722	D	1	D	0.59357	0.985	D	0.65140	0.932	T	0.67711	-0.5600	10	0.56958	D	0.05	-24.4119	19.6507	0.95805	0.0:1.0:0.0:0.0	.	383	Q9Y4K3	TRAF6_HUMAN	D	383	ENSP00000433623:G383D;ENSP00000337853:G383D	ENSP00000337853:G383D	G	-	2	0	TRAF6	36468385	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.772000	0.85439	2.716000	0.92895	0.555000	0.69702	GGC		0.433	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		4	277	0	0	0	0	4	277				
OR5M10	390167	broad.mit.edu	37	11	56345153	56345153	+	Silent	SNP	T	T	C	rs370840506		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:56345153T>C	ENST00000526812.2	-	1	110	c.45A>G	c.(43-45)ttA>ttG	p.L15L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CTGTCAGTCCTAAGAGAATGA	0.458																																						uc001niz.1		NA																	0					0						c.(43-45)TTA>TTG		olfactory receptor, family 5, subfamily M,		C		2,3810		0,2,1904	153.0	142.0	146.0		45	0.7	0.7	11		146	0,8264		0,0,4132	no	coding-synonymous	OR5M10	NM_001004741.1		0,2,6036	CC,CT,TT		0.0,0.0525,0.0166		15/316	56345153	2,12074	1906	4132	6038	SO:0001819	synonymous_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56345153T>C	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.45A>G	11.37:g.56345153T>C							p.L15L	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	45	-			15			Extracellular (Potential).		B9EIL9	Silent	SNP	ENST00000526812.2	37	c.45A>G	CCDS53630.1																																																																																				0.458	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		7	149	0	0	0	0	7	149				
OR5M1	390168	broad.mit.edu	37	11	56380883	56380883	+	Silent	SNP	A	A	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:56380883A>C	ENST00000526538.1	-	1	95	c.96T>G	c.(94-96)ctT>ctG	p.L32L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GGTAGATCGCAAGGAATACCC	0.493																																						uc001nja.1		NA																	0				central_nervous_system(1)	1						c.(94-96)CTT>CTG		olfactory receptor, family 5, subfamily M,							178.0	171.0	173.0					11																	56380883		1971	4150	6121	SO:0001819	synonymous_variant	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380883A>C	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.96T>G	11.37:g.56380883A>C							p.L32L	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	96	-			32			Helical; Name=1; (Potential).		Q6IF60|Q96RB6	Silent	SNP	ENST00000526538.1	37	c.96T>G	CCDS53631.1																																																																																				0.493	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		10	124	0	0	0	0	10	124				
OR5M1	390168	broad.mit.edu	37	11	56380889	56380889	+	Silent	SNP	T	T	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:56380889T>C	ENST00000526538.1	-	1	89	c.90A>G	c.(88-90)gtA>gtG	p.V30V		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCGCAAGGAATACCCCAAACA	0.478																																						uc001nja.1		NA																	0				central_nervous_system(1)	1						c.(88-90)GTA>GTG		olfactory receptor, family 5, subfamily M,							181.0	173.0	175.0					11																	56380889		1969	4147	6116	SO:0001819	synonymous_variant	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380889T>C	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.90A>G	11.37:g.56380889T>C							p.V30V	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	90	-			30			Helical; Name=1; (Potential).		Q6IF60|Q96RB6	Silent	SNP	ENST00000526538.1	37	c.90A>G	CCDS53631.1																																																																																				0.478	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		13	127	0	0	0	0	13	127				
TMEM179B	374395	broad.mit.edu	37	11	62557444	62557444	+	Silent	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:62557444G>A	ENST00000333449.4	+	5	590	c.585G>A	c.(583-585)cgG>cgA	p.R195R	TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron|NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000307366.7_3'UTR	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	195						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						CCCCATACCGGCCTCTGGAGA	0.557																																						uc001nvd.3		NA																	0					0						c.(583-585)CGG>CGA		transmembrane protein 179B							116.0	115.0	115.0					11																	62557444		2201	4299	6500	SO:0001819	synonymous_variant	374395					integral to membrane		g.chr11:62557444G>A	BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.585G>A	11.37:g.62557444G>A							p.R195R	NM_199337	NP_955369	Q7Z7N9	T179B_HUMAN			5	615	+			195						Silent	SNP	ENST00000333449.4	37	c.585G>A	CCDS8036.1																																																																																				0.557	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2	NM_199337		75	232	0	0	0	0	75	232				
CCDC77	84318	broad.mit.edu	37	12	539877	539877	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:539877G>C	ENST00000239830.4	+	7	737	c.558G>C	c.(556-558)caG>caC	p.Q186H	CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Missense_Mutation_p.Q154H|CCDC77_ENST00000540180.1_Missense_Mutation_p.Q154H|CCDC77_ENST00000422000.1_Missense_Mutation_p.Q154H	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	186						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AATGTGAGCAGAGTGAATCTT	0.408																																						uc001qig.2		NA																	0				ovary(1)	1						c.(556-558)CAG>CAC		coiled-coil domain containing 77 isoform a							136.0	131.0	133.0					12																	539877		2203	4300	6503	SO:0001583	missense	84318					centrosome		g.chr12:539877G>C	AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.558G>C	12.37:g.539877G>C	ENSP00000239830:p.Gln186His					CCDC77_uc009zdk.2_Missense_Mutation_p.Q154H|CCDC77_uc010sdp.1_Missense_Mutation_p.Q154H|CCDC77_uc010sdq.1_Missense_Mutation_p.Q154H	p.Q186H	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)		7	738	+	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		186					B4DDE8	Missense_Mutation	SNP	ENST00000239830.4	37	c.558G>C	CCDS8503.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246480	0.22796	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	4.08	3.08	0.35506	.	1.582410	0.03767	N	0.259141	T	0.27967	0.0689	L	0.29908	0.895	0.09310	N	0.999995	B	0.29805	0.257	B	0.24269	0.052	T	0.15378	-1.0439	10	0.45353	T	0.12	-1.1074	7.119	0.25433	0.1022:0.179:0.7188:0.0	.	186	Q9BR77	CCD77_HUMAN	H	154;154;154;186;154	ENSP00000440554:Q154H;ENSP00000391870:Q154H;ENSP00000445873:Q154H;ENSP00000239830:Q186H;ENSP00000412925:Q154H	ENSP00000239830:Q186H	Q	+	3	2	CCDC77	410138	0.997000	0.39634	0.115000	0.21578	0.244000	0.25665	0.302000	0.19192	2.216000	0.71823	0.478000	0.44815	CAG		0.408	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358		67	252	0	0	0	0	67	252				
GRIN2B	2904	broad.mit.edu	37	12	13717097	13717097	+	Silent	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:13717097G>A	ENST00000609686.1	-	13	3284	c.3075C>T	c.(3073-3075)atC>atT	p.I1025I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1025					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGGGGAGGCCGATGTCCAGGG	0.587																																						uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(3073-3075)ATC>ATT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						94.0	73.0	80.0					12																	13717097		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717097G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3075C>T	12.37:g.13717097G>A							p.I1025I	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	3254	-			1025			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3075C>T	CCDS8662.1																																																																																				0.587	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			19	56	0	0	0	0	19	56				
CAPRIN2	65981	broad.mit.edu	37	12	30863009	30863009	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:30863009A>C	ENST00000298892.5	-	17	3811	c.3061T>G	c.(3061-3063)Ttg>Gtg	p.L1021V	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.L1071V|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.L737V|CAPRIN2_ENST00000395805.2_3'UTR	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCTGATACCAAGACCTCTTCA	0.443																																						uc001rji.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3211-3213)TTG>GTG		C1q domain containing 1 isoform 1							117.0	106.0	110.0					12																	30863009		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30863009A>C	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.3061T>G	12.37:g.30863009A>C	ENSP00000298892:p.Leu1021Val					CAPRIN2_uc001rjf.1_3'UTR|CAPRIN2_uc001rjg.1_Missense_Mutation_p.L738V|CAPRIN2_uc001rjh.1_Missense_Mutation_p.L1021V|CAPRIN2_uc001rjj.1_Missense_Mutation_p.L737V|CAPRIN2_uc001rjk.3_3'UTR|CAPRIN2_uc001rjl.3_3'UTR	p.L1071V	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			18	3962	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		1071			C1q.			Missense_Mutation	SNP	ENST00000298892.5	37	c.3211T>G	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991217	0.54041	.	.	ENSG00000110888	ENST00000298892;ENST00000251071;ENST00000308433	T;T;T	0.73047	-0.71;-0.71;-0.71	5.7	0.799	0.18667	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.112631	0.64402	D	0.000017	T	0.53916	0.1826	N	0.00760	-1.21	0.39120	D	0.96164	D;D	0.61697	0.99;0.967	D;P	0.66497	0.944;0.836	T	0.64659	-0.6355	10	0.87932	D	0	-6.2643	9.1415	0.36906	0.4034:0.0:0.5966:0.0	.	1071;1021	Q6IMN6;Q6IMN6-2	CAPR2_HUMAN;.	V	1021;1071;737	ENSP00000298892:L1021V;ENSP00000251071:L1071V;ENSP00000309785:L737V	ENSP00000251071:L1071V	L	-	1	2	CAPRIN2	30754276	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.856000	0.48341	0.107000	0.17824	0.533000	0.62120	TTG		0.443	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	NM_023925		35	124	0	0	0	0	35	124				
DDN	23109	broad.mit.edu	37	12	49391856	49391856	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:49391856C>T	ENST00000421952.2	-	2	824	c.803G>A	c.(802-804)cGc>cAc	p.R268H	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	268						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CTTCTTTGTGCGCCCTCCGTC	0.652																																						uc001rsv.1		NA																	0				large_intestine(1)	1						c.(802-804)CGC>CAC		dendrin							48.0	56.0	53.0					12																	49391856		2203	4297	6500	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391856C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.803G>A	12.37:g.49391856C>T	ENSP00000390590:p.Arg268His					uc001rsw.2_5'Flank	p.R268H	NM_015086	NP_055901	O94850	DEND_HUMAN			2	821	-			268						Missense_Mutation	SNP	ENST00000421952.2	37	c.803G>A	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352368	0.24512	.	.	ENSG00000181418	ENST00000421952	T	0.52295	0.67	3.89	1.98	0.26296	.	0.613334	0.14734	N	0.301590	T	0.29093	0.0723	N	0.14661	0.345	0.32899	D	0.51289	D	0.55800	0.973	B	0.42245	0.381	T	0.34428	-0.9829	10	0.32370	T	0.25	-21.6065	10.314	0.43725	0.3563:0.6437:0.0:0.0	.	268	O94850	DEND_HUMAN	H	268	ENSP00000390590:R268H	ENSP00000390590:R268H	R	-	2	0	DDN	47678123	0.030000	0.19436	0.894000	0.35097	0.970000	0.65996	0.580000	0.23803	0.572000	0.29383	0.561000	0.74099	CGC		0.652	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			5	158	0	0	0	0	5	158				
DDN	23109	broad.mit.edu	37	12	49391990	49391990	+	Silent	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:49391990C>T	ENST00000421952.2	-	2	690	c.669G>A	c.(667-669)cgG>cgA	p.R223R	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	223	Interaction with MAGI2.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						AGGGTGGCGGCCGGTCCCAGC	0.701																																						uc001rsv.1		NA																	0				large_intestine(1)	1						c.(667-669)CGG>CGA		dendrin							18.0	22.0	21.0					12																	49391990		2122	4173	6295	SO:0001819	synonymous_variant	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391990C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.669G>A	12.37:g.49391990C>T						uc001rsw.2_5'Flank	p.R223R	NM_015086	NP_055901	O94850	DEND_HUMAN			2	687	-			223			Interaction with MAGI2.			Silent	SNP	ENST00000421952.2	37	c.669G>A	CCDS31791.2																																																																																				0.701	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			3	61	0	0	0	0	3	61				
AAAS	8086	broad.mit.edu	37	12	53715239	53715239	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:53715239A>C	ENST00000209873.4	-	1	176	c.11T>G	c.(10-12)cTg>cGg	p.L4R	AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_Missense_Mutation_p.L4R|AAAS_ENST00000549983.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	4					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GAACAACCCCAGAGAGCACAT	0.622											OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001scr.3		NA																	0				ovary(1)	1						c.(10-12)CTG>CGG		achalasia, adrenocortical insufficiency,							126.0	127.0	127.0					12																	53715239		2203	4300	6503	SO:0001583	missense	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53715239A>C	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.11T>G	12.37:g.53715239A>C	ENSP00000209873:p.Leu4Arg		OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	994	AAAS_uc001scs.3_Missense_Mutation_p.L4R	p.L4R	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN			1	174	-			4					Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	c.11T>G	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.870378	0.91587	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000547757;ENST00000552161	D;D;D	0.93366	-2.79;-3.21;-2.36	5.45	5.45	0.79879	.	0.088914	0.46145	D	0.000304	D	0.95604	0.8571	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	D	0.95943	0.8948	10	0.87932	D	0	-7.6522	13.7868	0.63115	1.0:0.0:0.0:0.0	.	4;4	Q5JB47;Q9NRG9	.;AAAS_HUMAN	R	4	ENSP00000209873:L4R;ENSP00000377908:L4R;ENSP00000448020:L4R	ENSP00000209873:L4R	L	-	2	0	AAAS	52001506	1.000000	0.71417	0.912000	0.35992	0.808000	0.45660	4.884000	0.63135	2.200000	0.70718	0.460000	0.39030	CTG		0.622	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			103	239	0	0	0	0	103	239				
ZBTB39	9880	broad.mit.edu	37	12	57398238	57398238	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:57398238G>A	ENST00000300101.2	-	2	549	c.464C>T	c.(463-465)cCc>cTc	p.P155L		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TTCTCCAAGGGGATGGGCAGG	0.552																																						uc001sml.1		NA																	0				breast(1)	1						c.(463-465)CCC>CTC		zinc finger and BTB domain containing 39							94.0	94.0	94.0					12																	57398238		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57398238G>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.464C>T	12.37:g.57398238G>A	ENSP00000300101:p.Pro155Leu					RDH16_uc010sqx.1_5'Flank	p.P155L	NM_014830	NP_055645	O15060	ZBT39_HUMAN			2	550	-			155					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.464C>T	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466276	0.26335	.	.	ENSG00000166860	ENST00000300101	T	0.08008	3.14	6.07	5.13	0.70059	.	0.294790	0.32687	N	0.005768	T	0.06508	0.0167	N	0.19112	0.55	0.46478	D	0.999064	B	0.23937	0.094	B	0.19666	0.026	T	0.23797	-1.0178	10	0.56958	D	0.05	-15.9485	11.8515	0.52413	0.0:0.0:0.8259:0.1741	.	155	O15060	ZBT39_HUMAN	L	155	ENSP00000300101:P155L	ENSP00000300101:P155L	P	-	2	0	ZBTB39	55684505	0.735000	0.28153	0.997000	0.53966	0.762000	0.43233	2.863000	0.48396	2.884000	0.98904	0.655000	0.94253	CCC		0.552	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		79	151	0	0	0	0	79	151				
RNF10	9921	broad.mit.edu	37	12	120995094	120995094	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:120995094A>G	ENST00000325954.4	+	5	1116	c.655A>G	c.(655-657)Agc>Ggc	p.S219G	RNF10_ENST00000413266.2_Missense_Mutation_p.S219G	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	219					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGCATTTGTAGCCATGAAGT	0.483																																						uc001typ.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(655-657)AGC>GGC		ring finger protein 10							175.0	154.0	161.0					12																	120995094		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120995094A>G	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.655A>G	12.37:g.120995094A>G	ENSP00000322242:p.Ser219Gly					RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.S125G	p.S219G	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			5	1138	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		219					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.655A>G	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057355	0.76074	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266	D;D	0.91011	-2.76;-2.77	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.92906	0.7743	L	0.41824	1.3	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.989	D	0.92908	0.6345	10	0.46703	T	0.11	.	15.9147	0.79503	1.0:0.0:0.0:0.0	.	219;219	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	G	219	ENSP00000322242:S219G;ENSP00000415682:S219G	ENSP00000322242:S219G	S	+	1	0	RNF10	119479477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.227000	0.72691	0.460000	0.39030	AGC		0.483	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			3	212	0	0	0	0	3	212				
TPTE2	93492	broad.mit.edu	37	13	19997299	19997299	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr13:19997299C>A	ENST00000400230.2	-	20	1516	c.1472G>T	c.(1471-1473)tGt>tTt	p.C491F	TPTE2_ENST00000400103.2_Missense_Mutation_p.C380F|TPTE2_ENST00000382975.4_Missense_Mutation_p.C451F|TPTE2_ENST00000390680.2_Missense_Mutation_p.C414F|TPTE2_ENST00000457266.2_Missense_Mutation_p.C380F|TPTE2_ENST00000255310.6_Missense_Mutation_p.C414F|TPTE2_ENST00000382977.4_Missense_Mutation_p.C491F|TPTE2_ENST00000382978.1_Missense_Mutation_p.C451F			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	491	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCTTGGTAGACAAAGCCTAAG	0.353																																						uc001umd.2		NA																	0					0						c.(1471-1473)TGT>TTT		TPTE and PTEN homologous inositol lipid							57.0	55.0	56.0					13																	19997299		2153	4276	6429	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:19997299C>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1472G>T	13.37:g.19997299C>A	ENSP00000383089:p.Cys491Phe					TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.C380F|TPTE2_uc001ume.2_Missense_Mutation_p.C414F|TPTE2_uc009zzm.2_Missense_Mutation_p.C162F|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Missense_Mutation_p.C162F	p.C491F	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	21	1683	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	491			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.1472G>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.439169	0.00180	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266	D;D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	2.09	0.871	0.19107	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.139018	0.49916	U	0.000132	T	0.55752	0.1940	N	0.01576	-0.805	0.21147	N	0.999779	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.48269	-0.9050	9	.	.	.	-12.6194	4.1163	0.10083	0.0:0.1827:0.0:0.8173	.	380;414;491	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	F	451;380;491;414;414;491;451;380	ENSP00000372438:C451F;ENSP00000382974:C380F;ENSP00000383089:C491F;ENSP00000255310:C414F;ENSP00000375098:C414F;ENSP00000372437:C491F;ENSP00000372435:C451F;ENSP00000442218:C380F	.	C	-	2	0	TPTE2	18895299	1.000000	0.71417	0.899000	0.35326	0.010000	0.07245	1.981000	0.40628	0.241000	0.21283	-1.066000	0.02275	TGT		0.353	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		10	89	1	0	2.18e-05	2.47e-05	10	89				
IFT88	8100	broad.mit.edu	37	13	21219018	21219018	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr13:21219018G>A	ENST00000319980.6	+	22	2224	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	IFT88_ENST00000537103.1_Missense_Mutation_p.E605K|IFT88_ENST00000351808.5_Missense_Mutation_p.E624K|IFT88_ENST00000382778.4_Missense_Mutation_p.E633K	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	633					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGAAGTCATTGAGTGGCTTGG	0.308																																						uc001unh.2		NA																	0				ovary(1)	1						c.(1897-1899)GAG>AAG		intraflagellar transport 88 homolog isoform 1							119.0	119.0	119.0					13																	21219018		2203	4295	6498	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21219018G>A	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1897G>A	13.37:g.21219018G>A	ENSP00000323580:p.Glu633Lys					IFT88_uc001uni.2_Missense_Mutation_p.E624K|IFT88_uc001unj.2_Missense_Mutation_p.E623K|IFT88_uc010tcq.1_Missense_Mutation_p.E604K	p.E633K	NM_175605	NP_783195	Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	22	2293	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	633			TPR 11.		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.1897G>A	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148732	0.94603	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.211625	0.48286	D	0.000200	T	0.78953	0.4365	M	0.72894	2.215	0.58432	D	0.999999	P;P	0.44734	0.842;0.801	P;P	0.46419	0.475;0.516	T	0.75714	-0.3221	10	0.24483	T	0.36	-21.5878	19.7077	0.96081	0.0:0.0:1.0:0.0	.	605;633	F5H6C2;Q13099	.;IFT88_HUMAN	K	633;624;633;605	ENSP00000372228:E633K;ENSP00000261632:E624K;ENSP00000323580:E633K;ENSP00000437719:E605K	ENSP00000323580:E633K	E	+	1	0	IFT88	20117018	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.957000	0.87870	2.714000	0.92807	0.650000	0.86243	GAG		0.308	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		36	149	0	0	0	0	36	149				
C14orf93	60686	broad.mit.edu	37	14	23459034	23459034	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr14:23459034A>G	ENST00000299088.6	-	5	1430	c.1001T>C	c.(1000-1002)aTt>aCt	p.I334T	RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397382.4_Missense_Mutation_p.I334T|C14orf93_ENST00000341470.4_Missense_Mutation_p.I334T|C14orf93_ENST00000406429.2_Missense_Mutation_p.I334T|C14orf93_ENST00000397379.3_Missense_Mutation_p.I334T|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_Missense_Mutation_p.I154T	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	334						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CACTACTGAAATATTCCAAGA	0.418																																						uc001wib.1		NA																	0				ovary(1)	1						c.(1000-1002)ATT>ACT		hypothetical protein LOC60686 precursor							88.0	85.0	86.0					14																	23459034		2203	4300	6503	SO:0001583	missense	60686					extracellular region		g.chr14:23459034A>G	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.1001T>C	14.37:g.23459034A>G	ENSP00000299088:p.Ile334Thr					C14orf93_uc001wic.1_Missense_Mutation_p.I154T|C14orf93_uc001wid.1_Missense_Mutation_p.I334T|C14orf93_uc001wig.2_Missense_Mutation_p.I334T|C14orf93_uc001wih.2_Missense_Mutation_p.I334T|C14orf93_uc001wie.2_Missense_Mutation_p.I334T|C14orf93_uc001wia.3_Missense_Mutation_p.I334T|C14orf93_uc001wif.2_Missense_Mutation_p.I154T	p.I334T	NM_021944	NP_068763	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	5	1311	-	all_cancers(95;3.3e-05)		334					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	c.1001T>C	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667513	0.67814	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	L	0.29908	0.895	0.45194	D	0.998206	D;D	0.76494	0.989;0.999	D;D	0.80764	0.985;0.994	T	0.65768	-0.6088	10	0.42905	T	0.14	-12.3516	15.2129	0.73241	1.0:0.0:0.0:0.0	.	334;334	Q9H972;Q9H972-2	CN093_HUMAN;.	T	334;334;334;334;154;334	ENSP00000299088:I334T;ENSP00000341353:I334T;ENSP00000380535:I334T;ENSP00000380538:I334T;ENSP00000380533:I154T;ENSP00000384768:I334T	ENSP00000299088:I334T	I	-	2	0	C14orf93	22528874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.852000	0.69488	2.233000	0.73108	0.533000	0.62120	ATT		0.418	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		37	96	0	0	0	0	37	96				
MBIP	51562	broad.mit.edu	37	14	36783737	36783737	+	Silent	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr14:36783737A>G	ENST00000416007.4	-	4	639	c.552T>C	c.(550-552)aaT>aaC	p.N184N	MBIP_ENST00000603913.1_5'Flank|MBIP_ENST00000318473.7_Silent_p.N184N|MBIP_ENST00000359527.7_Silent_p.N184N	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	184	Interaction with MAP3K12.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		AATCAATAACATTGCAAAATT	0.279																																						uc001wtm.2		NA																	0					0						c.(550-552)AAT>AAC		MAP3K12 binding inhibitory protein 1 isoform 1							53.0	53.0	53.0					14																	36783737		2201	4298	6499	SO:0001819	synonymous_variant	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36783737A>G	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.552T>C	14.37:g.36783737A>G						MBIP_uc001wto.2_Silent_p.N184N|MBIP_uc010tpy.1_Silent_p.N43N|MBIP_uc001wtn.2_Silent_p.N184N	p.N184N	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	4	640	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		184			Interaction with MAP3K12.		Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Silent	SNP	ENST00000416007.4	37	c.552T>C	CCDS9658.1	.	.	.	.	.	.	.	.	.	.	A	3.385	-0.125561	0.06795	.	.	ENSG00000151332	ENST00000553977	.	.	.	6.08	4.93	0.64822	.	.	.	.	.	T	0.65059	0.2655	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62937	-0.6748	4	.	.	.	-12.0424	12.4181	0.55504	0.9344:0.0:0.0656:0.0	.	.	.	.	R	181	.	.	C	-	1	0	MBIP	35853488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.769000	0.62300	1.110000	0.41699	0.533000	0.62120	TGT		0.279	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		13	44	0	0	0	0	13	44				
SPTB	6710	broad.mit.edu	37	14	65262141	65262141	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr14:65262141G>A	ENST00000389721.5	-	11	1590	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	SPTB_ENST00000389720.3_Missense_Mutation_p.R520W|SPTB_ENST00000556626.1_Missense_Mutation_p.R520W|SPTB_ENST00000542895.1_Missense_Mutation_p.R520W|SPTB_ENST00000389722.3_Missense_Mutation_p.R520W	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	520					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCTGGCGCCGGGACTGCAGC	0.602																																						uc001xht.2		NA																	0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(1558-1560)CGG>TGG		spectrin beta isoform b							58.0	56.0	57.0					14																	65262141		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65262141G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1558C>T	14.37:g.65262141G>A	ENSP00000374371:p.Arg520Trp					SPTB_uc001xhr.2_Missense_Mutation_p.R520W|SPTB_uc001xhs.2_Missense_Mutation_p.R520W|SPTB_uc001xhu.2_Missense_Mutation_p.R520W	p.R520W	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	11	1612	-		all_lung(585;4.15e-09)	520			Spectrin 3.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.1558C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172546	0.94807	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90135	0.4209	10	0.87932	D	0	.	18.8829	0.92364	0.0:0.0:1.0:0.0	.	520;524	P11277;Q59FP5	SPTB1_HUMAN;.	W	524;520;520;520;520;520	ENSP00000374372:R520W;ENSP00000451752:R520W;ENSP00000374371:R520W;ENSP00000443882:R520W;ENSP00000374370:R520W	ENSP00000374370:R520W	R	-	1	2	SPTB	64331894	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	8.009000	0.88606	2.758000	0.94735	0.561000	0.74099	CGG		0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			32	80	0	0	0	0	32	80				
BTBD7	55727	broad.mit.edu	37	14	93717956	93717956	+	Missense_Mutation	SNP	G	G	A	rs147262200		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr14:93717956G>A	ENST00000334746.5	-	8	2102	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	BTBD7_ENST00000554565.1_Missense_Mutation_p.R248C|BTBD7_ENST00000393170.2_Missense_Mutation_p.R173C	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	599					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ATTCGCAAGCGCACAAGATCC	0.438																																						uc001ybo.2		NA																	0				pancreas(1)	1						c.(1795-1797)CGC>TGC		BTB (POZ) domain containing 7 isoform 1							220.0	175.0	191.0					14																	93717956		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93717956G>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1795C>T	14.37:g.93717956G>A	ENSP00000335615:p.Arg599Cys					BTBD7_uc010aur.2_Missense_Mutation_p.R124C|BTBD7_uc010two.1_Missense_Mutation_p.R419C|BTBD7_uc001ybp.2_Missense_Mutation_p.R248C	p.R599C	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	8	2121	-		all_cancers(154;0.08)	599					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.1795C>T	CCDS32146.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	27.2	4.812997	0.90707	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.54071	0.9;0.59	5.6	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.72374	0.3452	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.989;0.998;0.99	T	0.76350	-0.2991	10	0.66056	D	0.02	.	15.709	0.77609	0.0:0.0:0.8621:0.1379	.	173;248;599	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	C	599;248;214;173	ENSP00000335615:R599C;ENSP00000451010:R248C	ENSP00000335615:R599C	R	-	1	0	BTBD7	92787709	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.631000	0.83237	1.324000	0.45282	0.591000	0.81541	CGC		0.438	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		5	327	0	0	0	0	5	327				
CYP46A1	10858	broad.mit.edu	37	14	100188342	100188342	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr14:100188342G>A	ENST00000261835.3	+	12	1219	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	CYP46A1_ENST00000554176.1_Missense_Mutation_p.R219H|CYP46A1_ENST00000423126.2_Missense_Mutation_p.R275H	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	372					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGCACCTTTCGCCTGCTGGAA	0.622																																						uc001ygo.2		NA																	0					0						c.(1114-1116)CGC>CAC		cytochrome P450, family 46							67.0	68.0	67.0					14																	100188342		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100188342G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.1115G>A	14.37:g.100188342G>A	ENSP00000261835:p.Arg372His					CYP46A1_uc001ygp.2_Missense_Mutation_p.R219H	p.R372H	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			12	1115	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	372					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.1115G>A	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375738	0.82682	.	.	ENSG00000036530	ENST00000261835;ENST00000423126;ENST00000554176;ENST00000556313	T;D;D;D	0.87412	-1.13;-2.25;-2.25;-2.25	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.90837	0.7122	L	0.49640	1.575	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91487	0.5209	10	0.87932	D	0	.	13.3251	0.60454	0.0:0.0:1.0:0.0	.	219;372	Q8N2B0;Q9Y6A2	.;CP46A_HUMAN	H	372;275;219;125	ENSP00000261835:R372H;ENSP00000405779:R275H;ENSP00000450553:R219H;ENSP00000451602:R125H	ENSP00000261835:R372H	R	+	2	0	CYP46A1	99258095	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.327000	0.72910	2.414000	0.81942	0.467000	0.42956	CGC		0.622	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			45	123	0	0	0	0	45	123				
ALPK3	57538	broad.mit.edu	37	15	85384098	85384098	+	Silent	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr15:85384098C>A	ENST00000258888.5	+	5	2361	c.2194C>A	c.(2194-2196)Cgg>Agg	p.R732R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	732					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCCCTGCCCGGCGGAGACA	0.647																																						uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(2194-2196)CGG>AGG		alpha-kinase 3							29.0	34.0	32.0					15																	85384098		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85384098C>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2194C>A	15.37:g.85384098C>A							p.R732R	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	2361	+			732					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.2194C>A	CCDS10333.1																																																																																				0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		28	48	1	0	4.78e-09	5.61e-09	28	48				
CLUAP1	23059	broad.mit.edu	37	16	3554771	3554771	+	Missense_Mutation	SNP	A	A	G	rs528317873		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:3554771A>G	ENST00000576634.1	+	2	218	c.74A>G	c.(73-75)gAa>gGa	p.E25G	CLUAP1_ENST00000571025.1_Missense_Mutation_p.E25G|CLUAP1_ENST00000417763.2_5'UTR|CLUAP1_ENST00000341633.5_Missense_Mutation_p.E25G|LA16c-306E5.3_ENST00000574423.2_RNA	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	25					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						ATTTCTATGGAAAATTTCCGT	0.413													A|||	1	0.000199681	0.0	0.0014	5008	,	,		18623	0.0		0.0	False		,,,				2504	0.0					uc002cvk.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(73-75)GAA>GGA		clusterin associated protein 1 isoform 1							119.0	117.0	118.0					16																	3554771		2197	4300	6497	SO:0001583	missense	23059					nucleus	protein binding	g.chr16:3554771A>G	BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.74A>G	16.37:g.3554771A>G	ENSP00000460850:p.Glu25Gly					CLUAP1_uc002cvj.1_Missense_Mutation_p.E25G|CLUAP1_uc002cvl.1_Missense_Mutation_p.E25G	p.E25G	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN			2	179	+			25					O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	ENST00000576634.1	37	c.74A>G	CCDS32381.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.803448	0.90623	.	.	ENSG00000103351	ENST00000341633	T	0.51817	0.69	5.34	5.34	0.76211	.	0.047732	0.85682	D	0.000000	T	0.73048	0.3537	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.78851	-0.2041	10	0.62326	D	0.03	-23.7458	13.2742	0.60178	1.0:0.0:0.0:0.0	.	25	Q96AJ1	CLUA1_HUMAN	G	25	ENSP00000344392:E25G	ENSP00000344392:E25G	E	+	2	0	CLUAP1	3494772	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.756000	0.91651	2.017000	0.59298	0.533000	0.62120	GAA		0.413	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793		23	100	0	0	0	0	23	100				
DNAH3	55567	broad.mit.edu	37	16	20959878	20959878	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:20959878T>C	ENST00000261383.3	-	57	11269	c.11270A>G	c.(11269-11271)aAg>aGg	p.K3757R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3757					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCAATTTCCTTACAGTAGAA	0.527																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(11269-11271)AAG>AGG		dynein, axonemal, heavy chain 3							95.0	83.0	87.0					16																	20959878		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20959878T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11270A>G	16.37:g.20959878T>C	ENSP00000261383:p.Lys3757Arg					DNAH3_uc010vbd.1_Missense_Mutation_p.K1192R	p.K3757R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	57	11270	-			3757					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.11270A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.408241	0.42715	.	.	ENSG00000158486	ENST00000261383	T	0.08984	3.03	5.9	4.8	0.61643	Dynein heavy chain (1);	0.062472	0.64402	D	0.000005	T	0.09069	0.0224	L	0.41124	1.26	0.80722	D	1	B	0.20261	0.043	B	0.18561	0.022	T	0.07065	-1.0792	10	0.54805	T	0.06	.	12.4891	0.55889	0.1253:0.0:0.0:0.8746	.	3757	Q8TD57	DYH3_HUMAN	R	3757	ENSP00000261383:K3757R	ENSP00000261383:K3757R	K	-	2	0	DNAH3	20867379	0.700000	0.27796	1.000000	0.80357	0.988000	0.76386	0.877000	0.28106	1.036000	0.39998	0.528000	0.53228	AAG		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		3	85	0	0	0	0	3	85				
ZNF768	79724	broad.mit.edu	37	16	30537133	30537133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:30537133G>A	ENST00000380412.5	-	2	503	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	ZNF768_ENST00000562803.1_Nonsense_Mutation_p.Q79*	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	110	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCAGGGCTCTGAGAATCTGAT	0.592																																						uc002dyk.3		NA																	0					0						c.(328-330)CAG>TAG		zinc finger protein 768							34.0	40.0	38.0					16																	30537133		2141	4274	6415	SO:0001587	stop_gained	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30537133G>A	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.328C>T	16.37:g.30537133G>A	ENSP00000369777:p.Gln110*					ZNF768_uc010vex.1_Nonsense_Mutation_p.Q79*|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Nonsense_Mutation_p.Q79*	p.Q110*	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			2	504	-			110			Pro-rich.		Q569L7|Q96CX4	Nonsense_Mutation	SNP	ENST00000380412.5	37	c.328C>T	CCDS10681.2	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925948	0.52759	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	.	.	.	4.23	3.27	0.37495	.	0.158579	0.30159	N	0.010267	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-7.1571	7.4984	0.27503	0.0896:0.0:0.7414:0.169	.	.	.	.	X	110;79	.	ENSP00000369777:Q110X	Q	-	1	0	ZNF768	30444634	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.564000	0.23563	1.350000	0.45770	0.561000	0.74099	CAG		0.592	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		61	172	0	0	0	0	61	172				
ADAMTS18	170692	broad.mit.edu	37	16	77387771	77387771	+	Silent	SNP	C	C	A	rs148669189		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:77387771C>A	ENST00000282849.5	-	10	1891	c.1473G>T	c.(1471-1473)gcG>gcT	p.A491A		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	491	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTAGACACCCCGCCTGAGGTG	0.418																																						uc002ffc.3		NA																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(1471-1473)GCG>GCT		ADAM metallopeptidase with thrombospondin type 1							257.0	236.0	243.0					16																	77387771		2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77387771C>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1473G>T	16.37:g.77387771C>A						ADAMTS18_uc010chc.1_Silent_p.A79A|ADAMTS18_uc002ffe.1_Silent_p.A187A	p.A491A	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			10	1892	-			491			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.1473G>T	CCDS10926.1																																																																																				0.418	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			57	226	1	0	2.68e-24	3.37e-24	57	226				
MAF	4094	broad.mit.edu	37	16	79633679	79633679	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:79633679G>A	ENST00000393350.1	-	1	932	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	MAF_ENST00000569649.1_Missense_Mutation_p.R41C|MAF_ENST00000326043.4_Missense_Mutation_p.R41C	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	41					cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		CTGATGATGCGGTCGGTCTCC	0.607			T	IGH@	MM																																	uc002ffn.2		NA		Dom	yes		16	16q22-q23	4094	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog			L	IGH@		MM		0				lung(1)	1						c.(121-123)CGC>TGC		v-maf musculoaponeurotic fibrosarcoma oncogene							27.0	32.0	31.0					16																	79633679		2198	4300	6498	SO:0001583	missense	4094				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:79633679G>A		CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.121C>T	16.37:g.79633679G>A	ENSP00000377019:p.Arg41Cys					MAF_uc002ffm.2_Missense_Mutation_p.R41C	p.R41C	NM_001031804	NP_001026974	O75444	MAF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)	1	944	-		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)	41					Q66I47|Q9UP93	Missense_Mutation	SNP	ENST00000393350.1	37	c.121C>T	CCDS42198.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027986	0.54790	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	D;D	0.98345	-4.88;-4.85	4.04	3.06	0.35304	.	0.000000	0.85682	D	0.000000	D	0.98264	0.9425	L	0.55213	1.73	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.76071	0.958;0.987	D	0.98413	1.0573	10	0.87932	D	0	-18.0686	13.1826	0.59663	0.0:0.1624:0.8376:0.0	.	41;41	O75444;O75444-1	MAF_HUMAN;.	C	41	ENSP00000327048:R41C;ENSP00000377019:R41C	ENSP00000327048:R41C	R	-	1	0	MAF	78191180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.722000	0.91452	0.668000	0.31126	0.632000	0.83419	CGC		0.607	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1			19	55	0	0	0	0	19	55				
TP53	7157	broad.mit.edu	37	17	7579310	7579310	+	Splice_Site	SNP	A	A	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:7579310A>T	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(5)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGGCAACTGACCGTGCAAGT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		17	Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.0?(7)|p.?(5)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	bone(4)|large_intestine(2)|central_nervous_system(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)|ovary(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CI073782	TP53	I		c.e4+1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							65.0	61.0	62.0					17																	7579310		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579310A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1T>A	17.37:g.7579310A>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice	p.T125_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	569	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880010	0.72294	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.734	0.51755	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520035	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.389000	0.79806	1.946000	0.56461	0.533000	0.62120	.		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	56	81	0	0	0	0	56	81				
GPR179	440435	broad.mit.edu	37	17	36485440	36485440	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:36485440G>A	ENST00000342292.4	-	11	4032	c.4012C>T	c.(4012-4014)Cag>Tag	p.Q1338*	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1338					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCAGGGTCCTGAGGAGCTGAC	0.612																																						uc002hpz.2		NA																	0				ovary(3)	3						c.(4012-4014)CAG>TAG		GPR158-like 1 precursor							46.0	51.0	49.0					17																	36485440		1967	4154	6121	SO:0001587	stop_gained	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36485440G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4012C>T	17.37:g.36485440G>A	ENSP00000345060:p.Gln1338*						p.Q1338*	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	4033	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1338			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000342292.4	37	c.4012C>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	37	6.196002	0.97367	.	.	ENSG00000188888	ENST00000342292	.	.	.	4.22	3.23	0.37069	.	0.577298	0.14883	N	0.292859	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.8124	10.9341	0.47235	0.0:0.2134:0.7866:0.0	.	.	.	.	X	1338	.	ENSP00000345060:Q1338X	Q	-	1	0	GPR179	33738966	0.032000	0.19561	0.160000	0.22671	0.114000	0.19823	2.001000	0.40825	0.952000	0.37798	0.455000	0.32223	CAG		0.612	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			36	134	0	0	0	0	36	134				
PRKAR1A	5573	broad.mit.edu	37	17	66518980	66518980	+	Silent	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:66518980C>A	ENST00000589228.1	+	3	389	c.261C>A	c.(259-261)ccC>ccA	p.P87P	PRKAR1A_ENST00000588188.2_Silent_p.P87P|PRKAR1A_ENST00000358598.2_Silent_p.P87P|PRKAR1A_ENST00000392711.1_Silent_p.P87P|PRKAR1A_ENST00000536854.2_Silent_p.P87P|PRKAR1A_ENST00000586397.1_Silent_p.P87P	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	87	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CTCCTCCACCCAACCCAGTGG	0.488			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	uc002jhg.2		NA	yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	T|Mis|N|F|S	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""			"""E, M"""	RET	myxoma|endocrine|papillary thyroid	papillary thyroid		0				adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1)	12						c.(259-261)CCC>CCA		cAMP-dependent protein kinase, regulatory							84.0	80.0	81.0					17																	66518980		2203	4300	6503	SO:0001819	synonymous_variant	5573	Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66518980C>A		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.261C>A	17.37:g.66518980C>A						PRKAR1A_uc002jhh.2_Silent_p.P87P|PRKAR1A_uc002jhi.2_Silent_p.P87P|PRKAR1A_uc002jhj.2_Silent_p.P87P|PRKAR1A_uc002jhk.2_5'UTR|PRKAR1A_uc002jhl.2_Silent_p.P87P|PRKAR1A_uc002jhm.2_Silent_p.P87P	p.P87P	NM_212471	NP_997636	P10644	KAP0_HUMAN			3	441	+	Breast(10;1.64e-13)		87			Dimerization and phosphorylation.		K7ER48|Q567S7	Silent	SNP	ENST00000589228.1	37	c.261C>A	CCDS11678.1																																																																																				0.488	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			4	126	1	0	0.000602214	0.000661722	4	126				
ABCA5	23461	broad.mit.edu	37	17	67310534	67310534	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:67310534A>G	ENST00000392676.3	-	2	87	c.23T>C	c.(22-24)gTa>gCa	p.V8A	ABCA5_ENST00000589609.1_5'Flank|ABCA5_ENST00000588877.1_Missense_Mutation_p.V8A|ABCA5_ENST00000392677.2_Missense_Mutation_p.V8A			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	8					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CCAAACTCCTACCTCCCTAAT	0.358																																						uc002jif.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(22-24)GTA>GCA		ATP-binding cassette, sub-family A , member 5							120.0	122.0	121.0					17																	67310534		2203	4300	6503	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67310534A>G	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.23T>C	17.37:g.67310534A>G	ENSP00000376443:p.Val8Ala					ABCA5_uc002jig.2_Missense_Mutation_p.V8A|ABCA5_uc002jih.2_Missense_Mutation_p.V8A|ABCA5_uc010dfe.2_Missense_Mutation_p.V8A	p.V8A	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			1	1241	-	Breast(10;3.72e-11)		8					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.23T>C	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.874403	0.33069	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.45276	0.9;0.9	5.76	4.67	0.58626	.	0.245918	0.28964	N	0.013575	T	0.18593	0.0446	N	0.04880	-0.145	0.25757	N	0.984985	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.17379	-1.0371	9	.	.	.	.	5.7984	0.18399	0.6665:0.0:0.0717:0.2618	.	8;8	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	A	8	ENSP00000376444:V8A;ENSP00000376443:V8A	.	V	-	2	0	ABCA5	64822129	0.941000	0.31946	0.981000	0.43875	0.991000	0.79684	2.618000	0.46393	0.985000	0.38656	0.482000	0.46254	GTA		0.358	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		5	208	0	0	0	0	5	208				
CABLES1	91768	broad.mit.edu	37	18	20833900	20833900	+	Splice_Site	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr18:20833900C>T	ENST00000256925.7	+	9	1761	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D	CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000420687.2_Splice_Site_p.D322D|CABLES1_ENST00000400473.2_Splice_Site_p.D260D|TMEM241_ENST00000450466.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	587					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATTTAATTGACGTAAGTAGCC	0.507																																						uc002kuc.2		NA																	0				breast(1)	1						c.(1759-1761)GAC>GAT		Cdk5 and Abl enzyme substrate 1 isoform 2							68.0	68.0	68.0					18																	20833900		1988	4162	6150	SO:0001630	splice_region_variant	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20833900C>T	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1761+1C>T	18.37:g.20833900C>T						C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Silent_p.D90D|CABLES1_uc002kud.2_Silent_p.D322D	p.D587D	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN			9	1761	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		587					B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Silent	SNP	ENST00000256925.7	37	c.1761C>T	CCDS42417.1																																																																																				0.507	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375	Silent	19	60	0	0	0	0	19	60				
C18orf8	29919	broad.mit.edu	37	18	21098936	21098936	+	Silent	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr18:21098936C>T	ENST00000269221.3	+	8	846	c.736C>T	c.(736-738)Cta>Tta	p.L246L	C18orf8_ENST00000590868.1_Silent_p.L198L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	246						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTCTATCATCTACCACGGTA	0.433																																						uc010xax.1		NA																	0				ovary(1)	1						c.(736-738)CTA>TTA		colon cancer-associated protein Mic1							172.0	166.0	168.0					18																	21098936		2203	4300	6503	SO:0001819	synonymous_variant	29919							g.chr18:21098936C>T	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.736C>T	18.37:g.21098936C>T						C18orf8_uc010xau.1_Silent_p.L89L|C18orf8_uc010xav.1_Silent_p.L198L|C18orf8_uc010xaw.1_Silent_p.L89L|C18orf8_uc002kul.2_RNA	p.L246L	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN			8	857	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		246					Q9BU17|Q9Y5M0	Silent	SNP	ENST00000269221.3	37	c.736C>T	CCDS32803.1																																																																																				0.433	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		29	101	0	0	0	0	29	101				
GTF2F1	2962	broad.mit.edu	37	19	6389470	6389470	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr19:6389470C>T	ENST00000394456.5	-	4	775	c.311G>A	c.(310-312)gGc>gAc	p.G104D	GTF2F1_ENST00000429701.2_Missense_Mutation_p.G76D|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	104					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCCTGATTTGCCGTTGACCCG	0.612																																						uc002meq.2		NA																	0					0						c.(310-312)GGC>GAC		general transcription factor IIF, polypeptide 1,							80.0	78.0	79.0					19																	6389470		2203	4300	6503	SO:0001583	missense	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6389470C>T		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.311G>A	19.37:g.6389470C>T	ENSP00000377969:p.Gly104Asp					GTF2F1_uc010xjb.1_5'Flank|GTF2F1_uc010xjc.1_Missense_Mutation_p.G76D	p.G104D	NM_002096	NP_002087	P35269	T2FA_HUMAN			4	596	-			104					B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	37	c.311G>A	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959939	0.74016	.	.	ENSG00000125651	ENST00000394456;ENST00000429701;ENST00000542045;ENST00000543921;ENST00000541263	T;T	0.51817	0.69;0.69	5.23	5.23	0.72850	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.053503	0.85682	D	0.000000	T	0.64929	0.2643	M	0.74258	2.255	0.80722	D	1	D;B	0.89917	1.0;0.072	D;B	0.80764	0.994;0.132	T	0.62435	-0.6855	10	0.05959	T	0.93	-28.0362	17.5808	0.87968	0.0:1.0:0.0:0.0	.	76;104	E7EUG6;P35269	.;T2FA_HUMAN	D	104;76;164;77;104	ENSP00000377969:G104D;ENSP00000392107:G76D	ENSP00000377969:G104D	G	-	2	0	GTF2F1	6340470	1.000000	0.71417	0.916000	0.36221	0.611000	0.37282	7.138000	0.77305	2.454000	0.82982	0.655000	0.94253	GGC		0.612	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		4	279	0	0	0	0	4	279				
MUC16	94025	broad.mit.edu	37	19	9059514	9059514	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr19:9059514C>A	ENST00000397910.4	-	3	28135	c.27932G>T	c.(27931-27933)aGt>aTt	p.S9311I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9313	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGGGCACACTAGAAAGGAC	0.498																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(27931-27933)AGT>ATT		mucin 16							158.0	153.0	154.0					19																	9059514		1997	4183	6180	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059514C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27932G>T	19.37:g.9059514C>A	ENSP00000381008:p.Ser9311Ile						p.S9311I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	28136	-			9313			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.27932G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.349	-0.133026	0.06711	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	2.43	0.0664	0.14361	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	B	0.30361	0.277	B	0.31245	0.126	T	0.44421	-0.9329	8	0.87932	D	0	.	2.7504	0.05279	0.0:0.1744:0.2673:0.5583	.	9311	B5ME49	.	I	9311	ENSP00000381008:S9311I	ENSP00000381008:S9311I	S	-	2	0	MUC16	8920514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.830000	0.04410	-0.058000	0.13177	-0.382000	0.06688	AGT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	275	1	0	0.000602214	0.000661722	5	275				
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr19:12187475C>G	ENST00000439326.3	+	4	1715	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H514D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408																																						uc002mtb.2		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(1540-1542)CAT>GAT		zinc finger protein 844							87.0	81.0	83.0					19																	12187475		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187475C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1540C>G	19.37:g.12187475C>G	ENSP00000392024:p.His514Asp					ZNF844_uc010dym.1_Missense_Mutation_p.H357D	p.H514D	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			4	1683	+			514					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1540C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	c	0.059	-1.227642	0.01518	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06371	3.31	2.45	-4.91	0.03085	.	.	.	.	.	T	0.02649	0.0080	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44019	-0.9355	9	0.25106	T	0.35	.	9.0916	0.36614	0.0:0.4133:0.4132:0.1735	.	514	Q08AG5	ZN844_HUMAN	D	514	ENSP00000392024:H514D	ENSP00000392024:H514D	H	+	1	0	ZNF844	12048475	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.066000	0.00302	-2.826000	0.00341	-1.839000	0.00587	CAT		0.408	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			3	101	0	0	0	0	3	101				
CACNA1A	773	broad.mit.edu	37	19	13366020	13366020	+	Silent	SNP	C	C	A	rs199854716	byFrequency	TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr19:13366020C>A	ENST00000360228.5	-	29	4643	c.4644G>T	c.(4642-4644)ccG>ccT	p.P1548P	CACNA1A_ENST00000574822.1_5'Flank|CACNA1A_ENST00000573710.2_Silent_p.P1549P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1549					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTTGTTCTGCGGCATGTGTC	0.607																																						uc010dze.2		NA																	0				large_intestine(2)	2						c.(4645-4647)CCG>CCT		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						66.0	74.0	71.0					19																	13366020		2149	4245	6394	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13366020C>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4644G>T	19.37:g.13366020C>A						CACNA1A_uc010xnd.1_Silent_p.P254P|CACNA1A_uc002mwx.3_Silent_p.P254P|CACNA1A_uc010dzc.2_Silent_p.P1074P|CACNA1A_uc002mwy.3_Silent_p.P1548P|CACNA1A_uc010xne.1_Silent_p.P1077P|CACNA1A_uc002mwv.3_Silent_p.P65P	p.P1549P	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		29	4883	-			1549			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.4647G>T	CCDS45998.1																																																																																				0.607	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		3	38	1	0	0.004672	0.00505376	3	38				
ZNF222	7673	broad.mit.edu	37	19	44536829	44536829	+	Silent	SNP	C	C	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr19:44536829C>G	ENST00000187879.8	+	4	1164	c.1002C>G	c.(1000-1002)gtC>gtG	p.V334V	ZNF222_ENST00000391960.3_Silent_p.V374V|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				ATCAACGAGTCCACACTGGAG	0.428																																						uc002oyc.2		NA																	0				ovary(3)	3						c.(1000-1002)GTC>GTG		zinc finger protein 222 isoform 2							104.0	102.0	102.0					19																	44536829		2203	4300	6503	SO:0001819	synonymous_variant	7673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44536829C>G	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.1002C>G	19.37:g.44536829C>G						ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Silent_p.V374V|ZNF222_uc002oyd.2_Silent_p.V280V	p.V334V	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN			4	1185	+		Prostate(69;0.0435)	334			C2H2-type 7.		G5E9B9|Q8N6G7|Q9P1U5	Silent	SNP	ENST00000187879.8	37	c.1002C>G	CCDS33045.1																																																																																				0.428	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			48	194	0	0	0	0	48	194				
TRAPPC12	51112	broad.mit.edu	37	2	3391502	3391502	+	Silent	SNP	C	C	T	rs376532700		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:3391502C>T	ENST00000324266.5	+	2	303	c.108C>T	c.(106-108)atC>atT	p.I36I	TRAPPC12_ENST00000382110.2_Silent_p.I36I	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	36					vesicle-mediated transport (GO:0016192)												AGGAAACCATCGATCTTGGCG	0.652																																						uc002qxm.1		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(106-108)ATC>ATT		tetratricopeptide repeat domain 15		C		4,4402	6.2+/-15.9	0,4,2199	44.0	39.0	41.0		108	-0.7	1.0	2		41	0,8600		0,0,4300	no	coding-synonymous	TTC15	NM_016030.5		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		36/736	3391502	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	51112						binding	g.chr2:3391502C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.108C>T	2.37:g.3391502C>T						TTC15_uc002qxn.1_Silent_p.I36I|TTC15_uc010ewm.1_Silent_p.I36I|TTC15_uc002qxl.1_Silent_p.I36I	p.I36I	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)	2	314	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)	36					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	c.108C>T	CCDS1652.1																																																																																				0.652	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		6	20	0	0	0	0	6	20				
AGBL5	60509	broad.mit.edu	37	2	27278581	27278581	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:27278581C>A	ENST00000360131.4	+	7	1099	c.940C>A	c.(940-942)Cag>Aag	p.Q314K	AGBL5_ENST00000323064.8_Missense_Mutation_p.Q314K|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	314					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGAACCGTCAGTACCTGAA	0.537																																						uc002rie.2		NA																	0				ovary(1)|breast(1)	2						c.(940-942)CAG>AAG		ATP/GTP binding protein-like 5 isoform 1							99.0	89.0	92.0					2																	27278581		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27278581C>A	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.940C>A	2.37:g.27278581C>A	ENSP00000353249:p.Gln314Lys					AGBL5_uc002ric.2_Missense_Mutation_p.Q314K|AGBL5_uc002rid.2_Missense_Mutation_p.Q314K|AGBL5_uc002rif.2_RNA	p.Q314K	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN			7	1157	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		314					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.940C>A	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564825	0.86439	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.10860	2.83;2.83	5.88	5.88	0.94601	Peptidase M14, carboxypeptidase A (1);	0.096915	0.64402	D	0.000001	T	0.26882	0.0658	L	0.49699	1.58	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.992;0.997	D;P;D	0.68039	0.955;0.893;0.925	T	0.00496	-1.1705	10	0.20519	T	0.43	-18.1979	18.9982	0.92821	0.0:1.0:0.0:0.0	.	314;314;314	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	K	314	ENSP00000323681:Q314K;ENSP00000353249:Q314K	ENSP00000323681:Q314K	Q	+	1	0	AGBL5	27132085	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.205000	0.77881	2.791000	0.96007	0.491000	0.48974	CAG		0.537	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		24	134	1	0	1.55e-16	1.92e-16	24	134				
AGBL5	60509	broad.mit.edu	37	2	27278587	27278587	+	Silent	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:27278587C>T	ENST00000360131.4	+	7	1105	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L	AGBL5_ENST00000323064.8_Silent_p.L316L|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	316					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGTCAGTACCTGAAGCCTGA	0.542																																						uc002rie.2		NA																	0				ovary(1)|breast(1)	2						c.(946-948)CTG>TTG		ATP/GTP binding protein-like 5 isoform 1							101.0	91.0	94.0					2																	27278587		2203	4300	6503	SO:0001819	synonymous_variant	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27278587C>T	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.946C>T	2.37:g.27278587C>T						AGBL5_uc002ric.2_Silent_p.L316L|AGBL5_uc002rid.2_Silent_p.L316L|AGBL5_uc002rif.2_RNA	p.L316L	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN			7	1163	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		316					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Silent	SNP	ENST00000360131.4	37	c.946C>T	CCDS1732.3																																																																																				0.542	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		25	137	0	0	0	0	25	137				
FSHR	2492	broad.mit.edu	37	2	49190547	49190547	+	Silent	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:49190547G>T	ENST00000406846.2	-	10	1532	c.1413C>A	c.(1411-1413)atC>atA	p.I471I	FSHR_ENST00000304421.4_Silent_p.I445I|FSHR_ENST00000541117.1_Silent_p.I207I|FSHR_ENST00000346173.3_Silent_p.I409I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	471					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TGGCATGCGTGATGGTATGCC	0.542									Gonadal Dysgenesis, 46 XX																													uc002rww.2		NA																	0				ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1411-1413)ATC>ATA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						57.0	51.0	53.0					2																	49190547		2203	4300	6503	SO:0001819	synonymous_variant	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190547G>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1413C>A	2.37:g.49190547G>T						FSHR_uc002rwx.2_Silent_p.I409I|FSHR_uc010fbn.2_Silent_p.I445I	p.I471I	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1487	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	471			Cytoplasmic (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.1413C>A	CCDS1843.1																																																																																				0.542	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			16	46	1	0	6.32e-08	7.38e-08	16	46				
APLF	200558	broad.mit.edu	37	2	68740274	68740274	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:68740274A>G	ENST00000303795.4	+	4	575	c.404A>G	c.(403-405)aAt>aGt	p.N135S		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	135					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CCCGTGATTAATTTACCTCAT	0.358																																						uc002sep.2		NA																	0				ovary(2)	2						c.(403-405)AAT>AGT		aprataxin and PNKP like factor							65.0	68.0	67.0					2																	68740274		2203	4299	6502	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68740274A>G	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.404A>G	2.37:g.68740274A>G	ENSP00000307004:p.Asn135Ser					APLF_uc010fdf.2_Missense_Mutation_p.N111S	p.N135S	NM_173545	NP_775816	Q8IW19	APLF_HUMAN			4	577	+			135					A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.404A>G	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	a	13.22	2.173006	0.38413	.	.	ENSG00000169621	ENST00000303795	T	0.23147	1.92	5.82	3.41	0.39046	.	1.001780	0.08046	N	0.995841	T	0.19927	0.0479	L	0.46157	1.445	0.09310	N	1	B;P	0.43094	0.017;0.799	B;B	0.33339	0.02;0.162	T	0.13522	-1.0506	10	0.34782	T	0.22	.	7.7879	0.29103	0.8297:0.0:0.1703:0.0	.	135;135	F8WET0;Q8IW19	.;APLF_HUMAN	S	135	ENSP00000307004:N135S	ENSP00000307004:N135S	N	+	2	0	APLF	68593778	0.135000	0.22499	0.006000	0.13384	0.862000	0.49288	4.036000	0.57304	1.028000	0.39785	0.416000	0.27883	AAT		0.358	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		55	126	0	0	0	0	55	126				
CTNNA2	1496	broad.mit.edu	37	2	80620389	80620389	+	Silent	SNP	T	T	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:80620389T>C	ENST00000402739.4	+	7	1115	c.1110T>C	c.(1108-1110)acT>acC	p.T370T	CTNNA2_ENST00000361291.4_Silent_p.T404T|CTNNA2_ENST00000540488.1_Silent_p.T370T|CTNNA2_ENST00000343114.3_Silent_p.T49T|CTNNA2_ENST00000496558.1_Silent_p.T370T|CTNNA2_ENST00000466387.1_Silent_p.T370T|CTNNA2_ENST00000541047.1_Silent_p.T370T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	370					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATAAGATGACTAAGAAAACAA	0.318																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1108-1110)ACT>ACC		catenin, alpha 2 isoform 1							96.0	91.0	93.0					2																	80620389		1818	4080	5898	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80620389T>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1110T>C	2.37:g.80620389T>C						CTNNA2_uc010yse.1_Silent_p.T370T|CTNNA2_uc010ysf.1_Silent_p.T370T|CTNNA2_uc010ysg.1_Silent_p.T370T|CTNNA2_uc010ysi.1_Silent_p.T2T	p.T370T	NM_004389	NP_004380	P26232	CTNA2_HUMAN			7	1115	+			370					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.1110T>C																																																																																					0.318	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		56	158	0	0	0	0	56	158				
MAT2A	4144	broad.mit.edu	37	2	85769823	85769823	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:85769823G>A	ENST00000306434.3	+	7	1027	c.904G>A	c.(904-906)Gca>Aca	p.A302T	MAT2A_ENST00000409017.1_Missense_Mutation_p.A239T	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	302					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCGTTGGGTGGCAAAATCCCT	0.478																																						uc002spr.2		NA																	0					0						c.(904-906)GCA>ACA		methionine adenosyltransferase II, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						113.0	114.0	114.0					2																	85769823		2203	4300	6503	SO:0001583	missense	4144				methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr2:85769823G>A		CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.904G>A	2.37:g.85769823G>A	ENSP00000303147:p.Ala302Thr					MAT2A_uc010ysr.1_Missense_Mutation_p.A302T|MAT2A_uc010fgk.2_Missense_Mutation_p.A276T|MAT2A_uc010fgl.2_Missense_Mutation_p.A239T	p.A302T	NM_005911	NP_005902	P31153	METK2_HUMAN			7	1027	+			302					A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	37	c.904G>A	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	G	34	5.364324	0.95877	.	.	ENSG00000168906	ENST00000306434;ENST00000424323;ENST00000409017	D;D	0.98822	-5.16;-5.16	5.9	5.9	0.94986	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98260	1.0498	10	0.87932	D	0	-6.9442	17.7661	0.88478	0.0:0.0:1.0:0.0	.	302;302	B4DEX8;P31153	.;METK2_HUMAN	T	302;83;239	ENSP00000303147:A302T;ENSP00000386353:A239T	ENSP00000303147:A302T	A	+	1	0	MAT2A	85623334	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.415000	0.97375	2.793000	0.96121	0.563000	0.77884	GCA		0.478	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911		4	112	0	0	0	0	4	112				
GPR45	11250	broad.mit.edu	37	2	105858867	105858867	+	Silent	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:105858867G>T	ENST00000258456.1	+	1	668	c.552G>T	c.(550-552)ctG>ctT	p.L184L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AGTGCGTGCTGGGCTACACGG	0.687																																						uc002tco.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(550-552)CTG>CTT		G protein-coupled receptor 45							29.0	27.0	28.0					2																	105858867		2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858867G>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.552G>T	2.37:g.105858867G>T							p.L184L	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	668	+			184			Extracellular (Potential).		Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.552G>T	CCDS2066.1																																																																																				0.687	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		9	38	1	0	0.00829132	0.00893406	9	38				
RGPD4	285190	broad.mit.edu	37	2	108496477	108496477	+	Missense_Mutation	SNP	A	A	C	rs544437177		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:108496477A>C	ENST00000408999.3	+	21	5055	c.4978A>C	c.(4978-4980)Agt>Cgt	p.S1660R	RGPD4_ENST00000354986.4_Missense_Mutation_p.S1660R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1660					protein targeting to Golgi (GO:0000042)			p.S1660R(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCAGAAGCTCAGTTCCACCAC	0.408													a|||	1	0.000199681	0.0	0.0	5008	,	,		16272	0.0		0.0	False		,,,				2504	0.001					uc010ywk.1		NA																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(4978-4980)AGT>CGT		RANBP2-like and GRIP domain containing 4							88.0	77.0	81.0					2																	108496477		692	1591	2283	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108496477A>C	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4978A>C	2.37:g.108496477A>C	ENSP00000386810:p.Ser1660Arg					RGPD4_uc002tdu.2_Missense_Mutation_p.S847R|RGPD4_uc010ywl.1_RNA	p.S1660R	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			21	5060	+			1660					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4978A>C	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	a	8.160	0.789310	0.16258	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.40756	1.02;1.02	0.854	-0.629	0.11533	.	.	.	.	.	T	0.18841	0.0452	N	0.08118	0	0.21950	N	0.999451	B	0.15473	0.013	B	0.08055	0.003	T	0.20505	-1.0273	9	0.26408	T	0.33	-2.1776	5.6995	0.17875	0.7235:0.2764:0.0:0.0	.	1660	Q7Z3J3	RGPD4_HUMAN	R	1660;1660;1027	ENSP00000347081:S1660R;ENSP00000386810:S1660R	ENSP00000347081:S1660R	S	+	1	0	RGPD4	107862909	1.000000	0.71417	0.978000	0.43139	0.915000	0.54546	4.648000	0.61425	-0.190000	0.10465	0.327000	0.21459	AGT		0.408	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		4	237	0	0	0	0	4	237				
TBC1D20	128637	broad.mit.edu	37	20	419364	419364	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr20:419364T>A	ENST00000354200.4	-	8	1225	c.1078A>T	c.(1078-1080)Acc>Tcc	p.T360S	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	360					acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CTTGGCTTGGTCAGGACATCT	0.567																																						uc002wds.2		NA																	0				central_nervous_system(1)	1						c.(1078-1080)ACC>TCC		TBC1 domain family, member 20							119.0	116.0	117.0					20																	419364		2203	4300	6503	SO:0001583	missense	128637				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity	g.chr20:419364T>A	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.1078A>T	20.37:g.419364T>A	ENSP00000346139:p.Thr360Ser					TBC1D20_uc002wdv.2_Missense_Mutation_p.T183S|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	p.T360S	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN			8	1216	-		all_epithelial(17;0.228)|Breast(17;0.231)	360					A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	ENST00000354200.4	37	c.1078A>T	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436530	0.43224	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.29917	1.55	6.17	5.08	0.68730	.	0.047957	0.85682	D	0.000000	T	0.15609	0.0376	N	0.14661	0.345	0.46241	D	0.998944	B	0.15473	0.013	B	0.11329	0.006	T	0.07102	-1.0790	10	0.06365	T	0.9	-30.271	11.1128	0.48243	0.0:0.071:0.0:0.929	.	360	Q96BZ9	TBC20_HUMAN	S	360;385	ENSP00000346139:T360S	ENSP00000246077:T385S	T	-	1	0	TBC1D20	367364	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.275000	0.33144	2.371000	0.80710	0.533000	0.62120	ACC		0.567	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628		91	227	0	0	0	0	91	227				
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr21:11058168A>T	ENST00000470054.1	-	0	479							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388																																						uc002yit.1		NA																	0					0						c.(271-273)CTG>CAG		B melanoma antigen family, member 2 precursor							100.0	79.0	86.0					21																	11058168		692	1591	2283			85319							g.chr21:11058168A>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058168A>T						BAGE_uc002yiw.1_RNA	p.L91Q	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	3	480	-								A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37	c.272T>A																																																																																					0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	179	0	0	0	0	8	179				
GCAT	23464	broad.mit.edu	37	22	38212212	38212212	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr22:38212212G>A	ENST00000248924.6	+	8	1048	c.992G>A	c.(991-993)cGt>cAt	p.R331H	GCAT_ENST00000323205.6_Missense_Mutation_p.R357H	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	331					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	CACAGGTTCCGTAGTAAGATG	0.612																																						uc003atz.2		NA																	0					0						c.(991-993)CGT>CAT		glycine C-acetyltransferase precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						56.0	43.0	47.0					22																	38212212		2203	4300	6503	SO:0001583	missense	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38212212G>A	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.992G>A	22.37:g.38212212G>A	ENSP00000248924:p.Arg331His					GCAT_uc003aua.1_Missense_Mutation_p.R357H	p.R331H	NM_014291	NP_055106	O75600	KBL_HUMAN			8	1012	+	Melanoma(58;0.045)		331					E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	c.992G>A	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233626	0.79688	.	.	ENSG00000100116	ENST00000323205;ENST00000248924	D;D	0.91124	-2.79;-2.79	4.71	3.69	0.42338	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95373	0.8498	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.95755	0.8795	10	0.87932	D	0	-9.6685	13.0257	0.58814	0.0782:0.0:0.9218:0.0	.	357;331	E2QC23;O75600	.;KBL_HUMAN	H	357;331	ENSP00000371110:R357H;ENSP00000248924:R331H	ENSP00000248924:R331H	R	+	2	0	GCAT	36542158	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.912000	0.75753	1.220000	0.43490	0.561000	0.74099	CGT		0.612	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		26	60	0	0	0	0	26	60				
ZBTB20	26137	broad.mit.edu	37	3	114057937	114057937	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr3:114057937G>C	ENST00000474710.1	-	5	2319	c.2141C>G	c.(2140-2142)aCt>aGt	p.T714S	ZBTB20_ENST00000357258.3_Missense_Mutation_p.T641S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T641S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T641S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T641S|ZBTB20_ENST00000462705.1_Missense_Mutation_p.T641S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T641S	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	714						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCAGACGTAAGTGGTCCCCTC	0.612																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2		NA																	0				ovary(4)|skin(1)	5						c.(2140-2142)ACT>AGT		zinc finger and BTB domain containing 20 isoform							67.0	64.0	65.0					3																	114057937		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114057937G>C	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2141C>G	3.37:g.114057937G>C	ENSP00000419153:p.Thr714Ser					ZBTB20_uc003ebj.2_Missense_Mutation_p.T641S|ZBTB20_uc010hqp.2_Missense_Mutation_p.T641S|ZBTB20_uc003ebk.2_Missense_Mutation_p.T641S|ZBTB20_uc003ebl.2_Missense_Mutation_p.T641S|ZBTB20_uc003ebm.2_Missense_Mutation_p.T641S|ZBTB20_uc003ebn.2_Missense_Mutation_p.T641S	p.T714S	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	5	2321	-			714					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.2141C>G	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509296	0.64522	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.09538	2.99;2.99;2.99;2.99;2.97;2.99;2.99	5.87	5.87	0.94306	.	0.051420	0.85682	D	0.000000	T	0.16257	0.0391	N	0.24115	0.695	0.80722	D	1	D	0.61697	0.99	P	0.51516	0.672	T	0.00400	-1.1763	10	0.66056	D	0.02	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	714	Q9HC78	ZBT20_HUMAN	S	641;641;641;641;714;641;641	ENSP00000420324:T641S;ENSP00000377375:T641S;ENSP00000418092:T641S;ENSP00000419902:T641S;ENSP00000419153:T714S;ENSP00000349803:T641S;ENSP00000417307:T641S	ENSP00000349803:T641S	T	-	2	0	ZBTB20	115540627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.568000	0.98166	2.941000	0.99782	0.655000	0.94253	ACT		0.612	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		4	138	0	0	0	0	4	138				
RAB7A	7879	broad.mit.edu	37	3	128526498	128526498	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr3:128526498G>A	ENST00000265062.3	+	5	758	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	RAB7A_ENST00000485280.1_Intron|RAB7A_ENST00000482525.1_Missense_Mutation_p.R124Q	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	171					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		ACGATTGCACGGAATGCACTT	0.577																																						uc003eks.1		NA																	0					0						c.(511-513)CGG>CAG		RAB7, member RAS oncogene family							158.0	144.0	149.0					3																	128526498		2203	4300	6503	SO:0001583	missense	7879				endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding	g.chr3:128526498G>A	X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.512G>A	3.37:g.128526498G>A	ENSP00000265062:p.Arg171Gln					RAB7A_uc010hsv.1_Missense_Mutation_p.R124Q|RAB7A_uc003ekt.2_Intron	p.R171Q	NM_004637	NP_004628	P51149	RAB7A_HUMAN		GBM - Glioblastoma multiforme(114;0.231)	5	744	+			171					A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	ENST00000265062.3	37	c.512G>A	CCDS3052.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687634	0.68157	.	.	ENSG00000075785	ENST00000265062;ENST00000482525;ENST00000493186;ENST00000483906	T;T;D;T	0.83591	-1.18;-1.38;-1.74;-1.38	5.36	3.58	0.41010	.	.	.	.	.	T	0.74779	0.3761	L	0.35854	1.095	0.80722	D	1	B;B	0.25850	0.136;0.079	B;B	0.22601	0.04;0.019	T	0.69577	-0.5108	9	0.42905	T	0.14	-10.4107	12.0997	0.53776	0.1392:0.0:0.8608:0.0	.	124;171	C9J8S3;P51149	.;RAB7A_HUMAN	Q	171;124;62;98	ENSP00000265062:R171Q;ENSP00000417668:R124Q;ENSP00000417189:R62Q;ENSP00000417155:R98Q	ENSP00000265062:R171Q	R	+	2	0	RAB7A	130009188	1.000000	0.71417	0.884000	0.34674	0.581000	0.36288	8.674000	0.91191	0.835000	0.34877	-0.157000	0.13467	CGG		0.577	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1			4	234	0	0	0	0	4	234				
EPHB1	2047	broad.mit.edu	37	3	134885846	134885846	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr3:134885846G>T	ENST00000398015.3	+	9	2127	c.1757G>T	c.(1756-1758)cGa>cTa	p.R586L	EPHB1_ENST00000493838.1_Missense_Mutation_p.R147L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	586					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGCACAGGCCGAGGTAAGTAG	0.547																																						uc003eqt.2		NA																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1756-1758)CGA>CTA		ephrin receptor EphB1 precursor							152.0	159.0	157.0					3																	134885846		1907	4125	6032	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134885846G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1757G>T	3.37:g.134885846G>T	ENSP00000381097:p.Arg586Leu					EPHB1_uc003equ.2_Missense_Mutation_p.R147L	p.R586L	NM_004441	NP_004432	P54762	EPHB1_HUMAN			9	1977	+			586			Cytoplasmic (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1757G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972025	0.74246	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.10573	2.86;2.86	6.08	6.08	0.98989	.	0.067315	0.53938	D	0.000052	T	0.11324	0.0276	L	0.36672	1.1	0.58432	D	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.23797	-1.0178	10	0.10902	T	0.67	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	586	P54762	EPHB1_HUMAN	L	586;147	ENSP00000381097:R586L;ENSP00000419574:R147L	ENSP00000381097:R586L	R	+	2	0	EPHB1	136368536	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.239000	0.78182	2.894000	0.99253	0.655000	0.94253	CGA		0.547	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		89	420	1	0	1.59e-47	2.05e-47	89	420				
IFT80	57560	broad.mit.edu	37	3	160025482	160025482	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr3:160025482C>A	ENST00000326448.7	-	10	1477	c.1045G>T	c.(1045-1047)Gtt>Ttt	p.V349F	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V520F|IFT80_ENST00000496589.1_Missense_Mutation_p.V212F|IFT80_ENST00000483465.1_Missense_Mutation_p.V212F	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	349					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GACGTTGAAACAACTAAGTGT	0.358																																						uc011boy.1		NA																	0				ovary(1)	1						c.(1045-1047)GTT>TTT		WD repeat domain 56							132.0	120.0	124.0					3																	160025482		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160025482C>A	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1045G>T	3.37:g.160025482C>A	ENSP00000312778:p.Val349Phe					IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.V212F|IFT80_uc003fdd.1_Missense_Mutation_p.V32F|IFT80_uc003fde.1_Missense_Mutation_p.V212F	p.V349F	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		10	1478	-			349					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.1045G>T	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.786511	0.90367	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000483325	T;D;D	0.83755	2.11;-1.76;-1.76	5.21	5.21	0.72293	WD40 repeat-like-containing domain (1);	0.000000	0.51477	U	0.000084	D	0.92704	0.7681	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93749	0.7057	10	0.66056	D	0.02	.	18.7743	0.91904	0.0:1.0:0.0:0.0	.	349	Q9P2H3	IFT80_HUMAN	F	349;212;212;30	ENSP00000312778:V349F;ENSP00000418196:V212F;ENSP00000420646:V212F	ENSP00000312778:V349F	V	-	1	0	IFT80	161508176	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.021000	0.76425	2.439000	0.82584	0.650000	0.86243	GTT		0.358	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		27	61	1	0	5.62e-17	6.97e-17	27	61				
GRID2	2895	broad.mit.edu	37	4	94138038	94138038	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr4:94138038G>T	ENST00000282020.4	+	6	1197	c.939G>T	c.(937-939)aaG>aaT	p.K313N	GRID2_ENST00000510992.1_Missense_Mutation_p.K218N|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	313					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GTGATCCAAAGGATCCATTTG	0.418																																						uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(937-939)AAG>AAT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						141.0	142.0	141.0					4																	94138038		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94138038G>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.939G>T	4.37:g.94138038G>T	ENSP00000282020:p.Lys313Asn					GRID2_uc010ikx.2_Missense_Mutation_p.K313N|GRID2_uc011cdu.1_Missense_Mutation_p.K218N|GRID2_uc010ikz.1_Translation_Start_Site	p.K313N	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	6	1197	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	313			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.939G>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.147876	0.57151	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.82711	-1.64;-1.64	4.49	1.5	0.22942	Extracellular ligand-binding receptor (1);	0.121330	0.53938	D	0.000051	T	0.72740	0.3498	L	0.29908	0.895	0.47819	D	0.999525	P;P	0.42078	0.77;0.77	B;B	0.42386	0.386;0.386	T	0.65977	-0.6037	10	0.33940	T	0.23	.	9.2437	0.37511	0.2789:0.0:0.7211:0.0	.	218;313	E9PH24;O43424	.;GRID2_HUMAN	N	313;218	ENSP00000282020:K313N;ENSP00000421257:K218N	ENSP00000282020:K313N	K	+	3	2	GRID2	94357061	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	0.631000	0.24568	0.349000	0.23975	0.591000	0.81541	AAG		0.418	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			52	179	1	0	4.33e-22	5.43e-22	52	179				
UNC5C	8633	broad.mit.edu	37	4	96256707	96256707	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr4:96256707T>C	ENST00000453304.1	-	2	548	c.200A>G	c.(199-201)gAg>gGg	p.E67G	UNC5C_ENST00000504962.1_Missense_Mutation_p.E67G|UNC5C_ENST00000506749.1_Missense_Mutation_p.E67G	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	67	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTCTTCAGGCTCAATAAGGAA	0.418																																						uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(199-201)GAG>GGG		unc5C precursor							85.0	79.0	81.0					4																	96256707		2203	4299	6502	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96256707T>C	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.200A>G	4.37:g.96256707T>C	ENSP00000406022:p.Glu67Gly					UNC5C_uc010ilc.1_Missense_Mutation_p.E67G|UNC5C_uc003htq.2_Missense_Mutation_p.E67G	p.E67G	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	2	354	-		Hepatocellular(203;0.114)	67			Extracellular (Potential).|Ig-like.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.200A>G	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.006920	0.93287	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	6.06	6.06	0.98353	Immunoglobulin-like fold (1);	0.050793	0.85682	N	0.000000	T	0.56093	0.1962	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.981	D;D;D	0.75484	0.979;0.986;0.954	T	0.61720	-0.7005	10	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	67;67;67	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	G	67;26;67;67;67	ENSP00000406022:E67G;ENSP00000426924:E67G;ENSP00000426153:E67G;ENSP00000425117:E67G	ENSP00000328673:E26G	E	-	2	0	UNC5C	96475730	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	GAG		0.418	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		3	140	0	0	0	0	3	140				
NR3C2	4306	broad.mit.edu	37	4	149357399	149357399	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr4:149357399C>A	ENST00000358102.3	-	2	976	c.614G>T	c.(613-615)tGc>tTc	p.C205F	NR3C2_ENST00000511528.1_Missense_Mutation_p.C205F|NR3C2_ENST00000344721.4_Missense_Mutation_p.C205F|NR3C2_ENST00000512865.1_Missense_Mutation_p.C205F|NR3C2_ENST00000355292.3_Missense_Mutation_p.C205F	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	205	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	AGCAGGGCTGCAAACCGAAGA	0.537																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3		NA																	0				large_intestine(1)	1						c.(613-615)TGC>TTC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						67.0	67.0	67.0					4																	149357399		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357399C>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.614G>T	4.37:g.149357399C>A	ENSP00000350815:p.Cys205Phe					NR3C2_uc003ilk.3_Missense_Mutation_p.C205F|NR3C2_uc010iph.2_RNA	p.C205F	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	948	-	all_hematologic(180;0.151)		205			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.614G>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703538	0.30232	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.91295	-2.81;-2.82;-2.81;-2.41;-2.39;-2.82	5.24	5.24	0.73138	.	0.199991	0.53938	D	0.000041	D	0.90923	0.7147	L	0.27053	0.805	0.48975	D	0.999737	D;D	0.69078	0.996;0.997	P;P	0.59703	0.862;0.854	D	0.89722	0.3920	9	.	.	.	.	19.1795	0.93617	0.0:1.0:0.0:0.0	.	205;205	B0ZBF5;B0ZBF6	.;.	F	205	ENSP00000341390:C205F;ENSP00000347441:C205F;ENSP00000350815:C205F;ENSP00000423510:C205F;ENSP00000343907:C205F;ENSP00000421481:C205F	.	C	-	2	0	NR3C2	149576849	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	3.772000	0.55325	2.602000	0.87976	0.591000	0.81541	TGC		0.537	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			30	95	1	0	7.38e-10	8.85e-10	30	95				
CMYA5	202333	broad.mit.edu	37	5	79032114	79032114	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:79032114A>T	ENST00000446378.2	+	2	7557	c.7526A>T	c.(7525-7527)aAa>aTa	p.K2509I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2509					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAGAATCAAAAGCCGATGCT	0.368																																						uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(7525-7527)AAA>ATA		cardiomyopathy associated 5							63.0	62.0	63.0					5																	79032114		1833	4091	5924	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79032114A>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7526A>T	5.37:g.79032114A>T	ENSP00000394770:p.Lys2509Ile						p.K2509I	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7598	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2509					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.7526A>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.466447	0.43839	.	.	ENSG00000164309	ENST00000446378	T	0.29917	1.55	5.99	4.83	0.62350	.	0.106321	0.42420	D	0.000717	T	0.49695	0.1572	M	0.67953	2.075	0.18873	N	0.999987	D	0.89917	1.0	D	0.69307	0.963	T	0.44667	-0.9313	10	0.87932	D	0	.	9.5996	0.39596	0.921:0.0:0.079:0.0	.	2509	Q8N3K9	CMYA5_HUMAN	I	2509	ENSP00000394770:K2509I	ENSP00000394770:K2509I	K	+	2	0	CMYA5	79067870	0.148000	0.22702	0.539000	0.28077	0.354000	0.29330	2.092000	0.41700	1.094000	0.41399	0.533000	0.62120	AAA		0.368	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		22	81	0	0	0	0	22	81				
GPR98	84059	broad.mit.edu	37	5	89943453	89943453	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:89943453C>T	ENST00000405460.2	+	17	3257	c.3161C>T	c.(3160-3162)cCt>cTt	p.P1054L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1054	Calx-beta 8. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATTTCATTCCTGTTGAAAAA	0.423																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(3160-3162)CCT>CTT		G protein-coupled receptor 98 precursor							173.0	163.0	166.0					5																	89943453		1898	4119	6017	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89943453C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3161C>T	5.37:g.89943453C>T	ENSP00000384582:p.Pro1054Leu					GPR98_uc003kjt.2_5'UTR	p.P1054L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	17	3257	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1054			Calx-beta 8.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.3161C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	1.578	-0.532379	0.04112	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28454	1.61	5.49	3.72	0.42706	Na-Ca exchanger/integrin-beta4 (2);	0.206501	0.44097	D	0.000493	T	0.22044	0.0531	L	0.54323	1.7	0.27173	N	0.960856	P	0.38827	0.649	B	0.37692	0.256	T	0.12041	-1.0563	10	0.07482	T	0.82	.	5.2977	0.15760	0.1425:0.636:0.0:0.2215	.	1054	Q8WXG9	GPR98_HUMAN	L	1054	ENSP00000384582:P1054L	ENSP00000296619:P1054L	P	+	2	0	GPR98	89979209	0.886000	0.30341	0.088000	0.20740	0.002000	0.02628	1.806000	0.38892	0.693000	0.31634	-0.142000	0.14014	CCT		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		41	137	0	0	0	0	41	137				
GPR98	84059	broad.mit.edu	37	5	90106533	90106533	+	Silent	SNP	T	T	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:90106533T>C	ENST00000405460.2	+	74	15552	c.15456T>C	c.(15454-15456)ccT>ccC	p.P5152P	GPR98_ENST00000425867.2_Silent_p.P813P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5152					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTCTCATTCCTGTAGAAACTG	0.458																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(15454-15456)CCT>CCC		G protein-coupled receptor 98 precursor							190.0	188.0	188.0					5																	90106533		2029	4191	6220	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106533T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15456T>C	5.37:g.90106533T>C						GPR98_uc003kjt.2_Silent_p.P2858P|GPR98_uc003kjw.2_Silent_p.P813P	p.P5152P	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15552	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5152			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.15456T>C	CCDS47246.1																																																																																				0.458	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		85	237	0	0	0	0	85	237				
SLC23A1	9963	broad.mit.edu	37	5	138714989	138714989	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:138714989G>A	ENST00000348729.3	-	9	1026	c.980C>T	c.(979-981)gCc>gTc	p.A327V	SLC23A1_ENST00000503919.1_5'Flank|SLC23A1_ENST00000353963.3_Missense_Mutation_p.A331V	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	327					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	TGCCAGAGTGGCGCTGAACAT	0.607																																						uc003leh.2		NA																	0					0						c.(979-981)GCC>GTC		solute carrier family 23 (nucleobase	Vitamin C(DB00126)						85.0	75.0	79.0					5																	138714989		2203	4300	6503	SO:0001583	missense	9963				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	g.chr5:138714989G>A	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.980C>T	5.37:g.138714989G>A	ENSP00000302701:p.Ala327Val					SLC23A1_uc003leg.2_Missense_Mutation_p.A331V	p.A327V	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		9	1077	-			327			Helical; (Potential).		O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	c.980C>T	CCDS4212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.258109|5.258109	0.95368|0.95368	.|.	.|.	ENSG00000170482|ENSG00000170482	ENST00000353963;ENST00000348729|ENST00000453898	T;T|.	0.14391|.	2.51;2.51|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57636|0.57636	0.2067|0.2067	L|L	0.38953|0.38953	1.18|1.18	0.80722|0.80722	D|D	1|1	P;P|.	0.50710|.	0.938;0.686|.	D;P|.	0.64237|.	0.923;0.697|.	T|T	0.47005|0.47005	-0.9150|-0.9150	10|6	0.45353|0.15066	T|T	0.12|0.55	0.4636|0.4636	17.8061|17.8061	0.88601|0.88601	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	327;331|.	Q9UHI7;Q9UHI7-2|.	S23A1_HUMAN;.|.	V|S	331;327|282	ENSP00000302851:A331V;ENSP00000302701:A327V|.	ENSP00000302701:A327V|ENSP00000406720:P282S	A|P	-|-	2|1	0|0	SLC23A1|SLC23A1	138742888|138742888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	7.756000|7.756000	0.85195|0.85195	2.728000|2.728000	0.93425|0.93425	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.607	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		34	78	0	0	0	0	34	78				
PCDHA2	56146	broad.mit.edu	37	5	140176610	140176610	+	Silent	SNP	G	G	T	rs570047063		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:140176610G>T	ENST00000526136.1	+	1	2061	c.2061G>T	c.(2059-2061)gcG>gcT	p.A687A	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.A687A|PCDHA2_ENST00000520672.2_Silent_p.A687A|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	687					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGCCGCGGGCTCAGAGG	0.647																																						uc003lhd.2		NA																	0				ovary(4)	4						c.(2059-2061)GCG>GCT		protocadherin alpha 2 isoform 1 precursor							76.0	78.0	77.0					5																	140176610		2203	4299	6502	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140176610G>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2061G>T	5.37:g.140176610G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.A687A|PCDHA2_uc011czy.1_Silent_p.A687A	p.A687A	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2167	+			687			Extracellular (Potential).		O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.2061G>T	CCDS54914.1																																																																																				0.647	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		39	152	1	0	5.57e-27	7.08e-27	39	152				
PCDHA13	56136	broad.mit.edu	37	5	140261993	140261993	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:140261993G>A	ENST00000289272.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R47H|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R47H(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCTCAG	0.642																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(139-141)CGC>CAC		protocadherin alpha 13 isoform 1 precursor							54.0	63.0	60.0					5																	140261993		2203	4300	6503	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140261993G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.140G>A	5.37:g.140261993G>A	ENSP00000289272:p.Arg47His					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.R47H|PCDHA13_uc003lid.2_Missense_Mutation_p.R47H	p.R47H	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	140	+			47			Cadherin 1.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.140G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586949	0.46110	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.27256	1.68;1.68	5.58	5.58	0.84498	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.35158	0.0922	M	0.61703	1.905	0.29783	N	0.83381	D;P;P	0.54207	0.965;0.844;0.955	P;P;B	0.47299	0.507;0.543;0.253	T	0.35798	-0.9774	9	0.59425	D	0.04	.	13.8316	0.63384	0.0754:0.0:0.9246:0.0	.	47;47;47	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	H	47	ENSP00000386821:R47H;ENSP00000289272:R47H	ENSP00000289272:R47H	R	+	2	0	PCDHA13	140242177	0.025000	0.19082	1.000000	0.80357	0.390000	0.30446	2.368000	0.44222	2.621000	0.88768	0.561000	0.74099	CGC		0.642	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		78	221	0	0	0	0	78	221				
ABLIM3	22885	broad.mit.edu	37	5	148620311	148620311	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:148620311A>G	ENST00000506113.1	+	13	1759	c.1277A>G	c.(1276-1278)cAg>cGg	p.Q426R	ABLIM3_ENST00000508983.1_Intron|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_5'Flank|ABLIM3_ENST00000356541.3_Intron|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000309868.7_Missense_Mutation_p.Q426R|ABLIM3_ENST00000504238.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	426					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTCTTACCAGGCTCCCAAG	0.592																																						uc003lpy.2		NA																	0				ovary(2)|skin(1)	3						c.(1276-1278)CAG>CGG		actin binding LIM protein family, member 3							112.0	102.0	106.0					5																	148620311		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148620311A>G	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1277A>G	5.37:g.148620311A>G	ENSP00000425394:p.Gln426Arg					ABLIM3_uc003lpz.1_Missense_Mutation_p.Q426R|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.2_Intron|ABLIM3_uc003lqc.1_Intron|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqf.2_Intron|ABLIM3_uc003lqe.1_Intron	p.Q426R	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	1528	+			426					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1277A>G	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.565610	0.65651	.	.	ENSG00000173210	ENST00000309868;ENST00000506113	T;T	0.33865	1.39;1.39	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.37046	0.0989	L	0.60455	1.87	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.10428	-1.0630	10	0.29301	T	0.29	.	15.9736	0.80040	1.0:0.0:0.0:0.0	.	426	O94929	ABLM3_HUMAN	R	426	ENSP00000310309:Q426R;ENSP00000425394:Q426R	ENSP00000310309:Q426R	Q	+	2	0	ABLIM3	148600504	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.424000	0.80242	2.308000	0.77769	0.533000	0.62120	CAG		0.592	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		3	201	0	0	0	0	3	201				
SLU7	10569	broad.mit.edu	37	5	159831502	159831502	+	Missense_Mutation	SNP	C	C	T	rs376066344		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:159831502C>T	ENST00000297151.4	-	15	1913	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	509					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGCTCTTTCGATGcttctt	0.323																																						uc003lyg.2		NA																	0				ovary(1)	1						c.(1525-1527)CGA>CAA		step II splicing factor SLU7		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	227.0	215.0	219.0		1526	1.7	0.9	5		219	0,8600		0,0,4300	no	missense	SLU7	NM_006425.4	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	509/587	159831502	1,13005	2203	4300	6503	SO:0001583	missense	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159831502C>T	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1526G>A	5.37:g.159831502C>T	ENSP00000297151:p.Arg509Gln						p.R509Q	NM_006425	NP_006416	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	1681	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	509					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	c.1526G>A	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032619	0.35893	2.27E-4	0.0	ENSG00000164609	ENST00000297151	T	0.32272	1.46	5.52	1.73	0.24493	.	0.900848	0.09549	N	0.787202	T	0.16938	0.0407	N	0.14661	0.345	0.40865	D	0.983865	B	0.17268	0.021	B	0.06405	0.002	T	0.08330	-1.0727	10	0.29301	T	0.29	-2.0236	7.1404	0.25552	0.0:0.5771:0.0:0.4229	.	509	O95391	SLU7_HUMAN	Q	509	ENSP00000297151:R509Q	ENSP00000297151:R509Q	R	-	2	0	SLU7	159764080	0.995000	0.38212	0.948000	0.38648	0.979000	0.70002	1.615000	0.36922	0.385000	0.24970	0.585000	0.79938	CGA		0.323	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		16	104	0	0	0	0	16	104				
HIST1H2BH	8345	broad.mit.edu	37	6	26251971	26251971	+	Silent	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:26251971A>G	ENST00000356350.2	+	1	93	c.93A>G	c.(91-93)aaA>aaG	p.K31K	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	31					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						AGAAGCGTAAACGCAGCCGCA	0.557																																						uc003nhh.2		NA																	0				ovary(3)	3						c.(91-93)AAA>AAG		histone cluster 1, H2bh							142.0	126.0	132.0					6																	26251971		2203	4300	6503	SO:0001819	synonymous_variant	8345				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26251971A>G	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.93A>G	6.37:g.26251971A>G						HIST1H3F_uc003nhg.1_5'Flank	p.K31K	NM_003524	NP_003515	Q93079	H2B1H_HUMAN			1	93	+			31					B2R541|Q4VB74	Silent	SNP	ENST00000356350.2	37	c.93A>G	CCDS4601.1																																																																																				0.557	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		62	206	0	0	0	0	62	206				
TRIM39	56658	broad.mit.edu	37	6	30309645	30309645	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:30309645C>T	ENST00000396547.1	+	8	1326	c.1166C>T	c.(1165-1167)aCc>aTc	p.T389I	TRIM39_ENST00000540416.1_Missense_Mutation_p.T359I|TRIM39_ENST00000396548.1_Missense_Mutation_p.T359I|TRIM39_ENST00000396551.3_Missense_Mutation_p.T359I|TRIM39_ENST00000376659.5_Missense_Mutation_p.T359I|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.T271I|TRIM39_ENST00000376656.4_Missense_Mutation_p.T389I			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	389	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GAGGGTTTCACCTCAGGTCGA	0.592																																						uc010jrz.2		NA																	0				ovary(3)	3						c.(1165-1167)ACC>ATC		tripartite motif-containing 39 isoform 1							111.0	74.0	87.0					6																	30309645		1511	2709	4220	SO:0001583	missense	56658				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding	g.chr6:30309645C>T	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1166C>T	6.37:g.30309645C>T	ENSP00000379796:p.Thr389Ile					TRIM39_uc003npz.2_Missense_Mutation_p.T359I|TRIM39_uc003nqb.2_Missense_Mutation_p.T359I|TRIM39_uc003nqc.2_Missense_Mutation_p.T359I|TRIM39_uc010jsa.1_Missense_Mutation_p.T359I	p.T389I	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN			9	1478	+			389			B30.2/SPRY.		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.1166C>T	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076581	0.55753	.	.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000001	T	0.63604	0.2525	L	0.60455	1.87	0.33934	D	0.642381	D;P;P	0.64830	0.994;0.454;0.933	P;B;P	0.59703	0.862;0.168;0.706	T	0.67205	-0.5729	10	0.45353	T	0.12	.	12.4587	0.55718	0.1672:0.8328:0.0:0.0	.	273;389;359	F5H2V3;Q9HCM9;Q9HCM9-2	.;TRI39_HUMAN;.	I	359;389;389;359;359;273;359;359;389;271	ENSP00000379800:T359I;ENSP00000365844:T389I;ENSP00000439400:T359I;ENSP00000379797:T359I;ENSP00000365847:T359I;ENSP00000379796:T389I;ENSP00000424048:T271I	ENSP00000365844:T389I	T	+	2	0	TRIM39-RPP21;TRIM39	30417624	0.006000	0.16342	1.000000	0.80357	0.992000	0.81027	0.221000	0.17680	2.730000	0.93505	0.655000	0.94253	ACC		0.592	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		22	94	0	0	0	0	22	94				
HLA-C	3107	broad.mit.edu	37	6	31238903	31238903	+	Missense_Mutation	SNP	A	A	T	rs281860524|rs281860528|rs281860529		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:31238903A>T	ENST00000376228.5	-	3	580	c.566T>A	c.(565-567)gTg>gAg	p.V189E	HLA-C_ENST00000383329.3_Missense_Mutation_p.V189E	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	189	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GAGCCACTCCACGCACGTGCC	0.677																																						uc003nsy.2		NA																	0					0						c.(565-567)GTG>GAG		major histocompatibility complex, class I, C							51.0	40.0	44.0					6																	31238903		2202	4296	6498	SO:0001583	missense	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31238903A>T	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.566T>A	6.37:g.31238903A>T	ENSP00000365402:p.Val189Glu					HLA-C_uc011dnj.1_Missense_Mutation_p.V161E|HLA-C_uc003nsx.2_Missense_Mutation_p.V68E|HLA-C_uc003nsz.2_Missense_Mutation_p.V189E|HLA-C_uc010jsl.2_Missense_Mutation_p.V189E|HLA-C_uc003nta.2_Missense_Mutation_p.V189E|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Missense_Mutation_p.V68E|HLA-B_uc003ntf.2_Missense_Mutation_p.V189E	p.V189E	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN			3	573	-			189			Extracellular (Potential).|Alpha-2.		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	c.566T>A	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	.	9.935	1.215957	0.22373	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.00013	9.25;9.25	2.71	2.71	0.32032	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.850900	0.09393	U	0.808225	T	0.00210	0.0006	H	0.99997	5.49	0.09310	N	0.999999	B;B;B;B	0.09022	0.002;0.0;0.0;0.001	B;B;B;B	0.23150	0.044;0.019;0.019;0.032	T	0.64132	-0.6479	10	0.87932	D	0	.	9.1668	0.37056	1.0:0.0:0.0:0.0	.	189;189;189;189	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	E	189;189;189;226	ENSP00000365402:V189E;ENSP00000372819:V189E	ENSP00000365402:V189E	V	-	2	0	HLA-C	31346882	0.005000	0.15991	0.026000	0.17262	0.002000	0.02628	2.143000	0.42187	1.487000	0.48415	0.254000	0.18369	GTG		0.677	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		4	65	0	0	0	0	4	65				
MRPS10	55173	broad.mit.edu	37	6	42185571	42185571	+	Missense_Mutation	SNP	G	G	A	rs548348475		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:42185571G>A	ENST00000053468.3	-	1	32	c.17C>T	c.(16-18)gCg>gTg	p.A6V		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	6						mitochondrion (GO:0005739)|ribosome (GO:0005840)				endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			AGCACCGAACGCTGTCCGCGC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		15143	0.0		0.001	False		,,,				2504	0.0					uc003osa.3		NA																	0					0						c.(16-18)GCG>GTG		mitochondrial ribosomal protein S10							24.0	27.0	26.0					6																	42185571		2203	4300	6503	SO:0001583	missense	55173				translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome	g.chr6:42185571G>A		CCDS4866.1	6p21.1	2012-09-13			ENSG00000048544	ENSG00000048544		"""Mitochondrial ribosomal proteins / small subunits"""	14502	protein-coding gene	gene with protein product		611976				11279123	Standard	NM_018141		Approved	FLJ10567	uc003osa.4	P82664	OTTHUMG00000014694	ENST00000053468.3:c.17C>T	6.37:g.42185571G>A	ENSP00000053468:p.Ala6Val					MRPS10_uc011dup.1_5'UTR	p.A6V	NM_018141	NP_060611	P82664	RT10_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)		1	63	-	Colorectal(47;0.196)		6					B2RE89|Q9H3E5|Q9NVR3	Missense_Mutation	SNP	ENST00000053468.3	37	c.17C>T	CCDS4866.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168858	0.38315	.	.	ENSG00000048544	ENST00000053468	.	.	.	5.26	0.436	0.16549	.	1.062810	0.07304	N	0.874675	T	0.06142	0.0159	N	0.11560	0.145	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.37407	-0.9707	9	0.34782	T	0.22	0.0081	5.094	0.14723	0.315:0.2796:0.4054:0.0	.	6	P82664	RT10_HUMAN	V	6	.	ENSP00000053468:A6V	A	-	2	0	MRPS10	42293549	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.778000	0.04664	-0.223000	0.09943	-0.123000	0.14984	GCG		0.597	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040547.1			12	53	0	0	0	0	12	53				
TMEM63B	55362	broad.mit.edu	37	6	44117677	44117677	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:44117677G>T	ENST00000259746.9	+	16	1678	c.1495G>T	c.(1495-1497)Gcc>Tcc	p.A499S	TMEM63B_ENST00000323267.6_Missense_Mutation_p.A499S			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	499					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTACTACTCAGCCTTCTTTGA	0.602																																						uc003owr.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(1495-1497)GCC>TCC		transmembrane protein 63B							196.0	140.0	159.0					6																	44117677		2203	4300	6503	SO:0001583	missense	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44117677G>T	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1495G>T	6.37:g.44117677G>T	ENSP00000259746:p.Ala499Ser					TMEM63B_uc003ows.2_Missense_Mutation_p.A402S|TMEM63B_uc010jyz.2_RNA	p.A499S	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		16	1559	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		499			Helical; (Potential).		B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	c.1495G>T	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.533878|2.533878	0.45073|0.45073	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000259746;ENST00000323267|ENST00000371893	T;T|.	0.27557|.	1.66;1.66|.	4.42|4.42	3.54|3.54	0.40534|0.40534	Domain of unknown function DUF221 (1);|.	0.053917|.	0.64402|.	D|.	0.000001|.	T|T	0.41213|0.41213	0.1149|0.1149	L|L	0.32530|0.32530	0.975|0.975	0.41980|0.41980	D|D	0.990798|0.990798	B|.	0.19817|.	0.039|.	B|.	0.32342|.	0.144|.	T|T	0.23119|0.23119	-1.0197|-1.0197	10|5	0.02654|.	T|.	1|.	.|.	12.2585|12.2585	0.54636|0.54636	0.0882:0.0:0.9118:0.0|0.0882:0.0:0.9118:0.0	.|.	499|.	Q5T3F8|.	TM63B_HUMAN|.	S|H	499|427	ENSP00000259746:A499S;ENSP00000327154:A499S|.	ENSP00000259746:A499S|.	A|Q	+|+	1|3	0|2	TMEM63B|TMEM63B	44225655|44225655	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.990000|0.990000	0.78478|0.78478	4.604000|4.604000	0.61112|0.61112	2.453000|2.453000	0.82957|0.82957	0.498000|0.498000	0.49722|0.49722	GCC|CAG		0.602	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		11	23	1	0	1.42e-15	1.74e-15	11	23				
KCNQ5	56479	broad.mit.edu	37	6	73900382	73900382	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:73900382C>A	ENST00000370398.1	+	12	1773	c.1664C>A	c.(1663-1665)gCt>gAt	p.A555D	KCNQ5_ENST00000402622.2_Missense_Mutation_p.A565D|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A556D|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A555D|KCNQ5_ENST00000414165.2_Missense_Mutation_p.A445D|KCNQ5_ENST00000342056.2_Missense_Mutation_p.A574D|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A546D	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	555					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CAATATTCTGCTGGTCATCTG	0.353																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(1663-1665)GCT>GAT		potassium voltage-gated channel, KQT-like							108.0	94.0	99.0					6																	73900382		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73900382C>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1664C>A	6.37:g.73900382C>A	ENSP00000359425:p.Ala555Asp					KCNQ5_uc011dyh.1_Missense_Mutation_p.A574D|KCNQ5_uc011dyi.1_Missense_Mutation_p.A565D|KCNQ5_uc010kat.2_Missense_Mutation_p.A546D|KCNQ5_uc011dyj.1_Missense_Mutation_p.A445D|KCNQ5_uc011dyk.1_Missense_Mutation_p.A305D	p.A555D	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	12	2011	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	555					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1664C>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057983	0.93846	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	5.04	5.04	0.67666	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	M	0.84773	2.715	0.47183	D	0.999341	D;D;D;D;D	0.89917	0.993;1.0;1.0;0.994;1.0	P;D;D;D;D	0.97110	0.889;0.999;0.998;0.962;1.0	D	0.97051	0.9764	10	0.87932	D	0	.	18.3823	0.90454	0.0:1.0:0.0:0.0	.	445;565;574;546;555	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	D	574;574;555;555;565;556;546;445	ENSP00000345055:A574D;ENSP00000347326:A555D;ENSP00000359425:A555D;ENSP00000385501:A565D;ENSP00000347853:A556D;ENSP00000384453:A546D;ENSP00000409861:A445D	ENSP00000345055:A574D	A	+	2	0	KCNQ5	73957103	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.814000	0.86154	2.310000	0.77875	0.655000	0.94253	GCT		0.353	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		29	81	1	0	1.16e-09	1.38e-09	29	81				
FAM71F1	84691	broad.mit.edu	37	7	128359088	128359088	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr7:128359088C>T	ENST00000315184.5	+	3	691	c.638C>T	c.(637-639)aCg>aTg	p.T213M	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.T114M	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	213										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATTCTTGTCACGCACTGCCTG	0.537																																						uc003vno.1		NA																	0				skin(1)	1						c.(637-639)ACG>ATG		testes development-related NYD-SP18							125.0	113.0	117.0					7																	128359088		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128359088C>T	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.638C>T	7.37:g.128359088C>T	ENSP00000326652:p.Thr213Met					FAM71F1_uc010llo.1_Missense_Mutation_p.T114M|FAM71F1_uc011koq.1_Missense_Mutation_p.T105M|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.T114M|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.T213M	p.T213M	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN			3	691	+			213					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.638C>T	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510385	0.64522	.	.	ENSG00000135248	ENST00000485070;ENST00000315184;ENST00000466842	T;T;T	0.29655	1.56;2.97;1.7	4.69	3.81	0.43845	.	0.333135	0.26282	N	0.025267	T	0.47002	0.1422	M	0.64997	1.995	0.29621	N	0.846204	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0	P;D;P;P;D	0.67103	0.899;0.949;0.855;0.828;0.926	T	0.44452	-0.9327	10	0.66056	D	0.02	-6.4253	8.6669	0.34125	0.0:0.8956:0.0:0.1044	.	105;213;213;213;114	B4DY15;F8WC62;Q96KD3-2;Q96KD3;Q8NA48	.;.;.;F71F1_HUMAN;.	M	114;213;69	ENSP00000418192:T114M;ENSP00000326652:T213M;ENSP00000417930:T69M	ENSP00000326652:T213M	T	+	2	0	FAM71F1	128146324	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	2.508000	0.45450	1.335000	0.45486	0.591000	0.81541	ACG		0.537	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		5	214	0	0	0	0	5	214				
PLXNA4	91584	broad.mit.edu	37	7	132192727	132192727	+	Silent	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr7:132192727G>T	ENST00000359827.3	-	2	1688	c.726C>A	c.(724-726)atC>atA	p.I242I	PLXNA4_ENST00000423507.2_Silent_p.I242I|PLXNA4_ENST00000378539.5_Silent_p.I242I|PLXNA4_ENST00000321063.4_Silent_p.I242I			Q9HCM2	PLXA4_HUMAN	plexin A4	242	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.I242I(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGACATAGTAGATATCAAAGT	0.498																																						uc003vra.3		NA																	3	Substitution - coding silent(3)		large_intestine(3)	ovary(1)	1						c.(724-726)ATC>ATA		plexin A4 isoform 1							97.0	90.0	92.0					7																	132192727		2203	4300	6503	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132192727G>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.726C>A	7.37:g.132192727G>T						PLXNA4_uc003vrc.2_Silent_p.I242I|PLXNA4_uc003vrb.2_Silent_p.I242I	p.I242I	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			2	955	-			242			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.726C>A	CCDS43646.1																																																																																				0.498	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		20	89	1	0	1.02e-10	1.23e-10	20	89				
TBXAS1	6916	broad.mit.edu	37	7	139636105	139636105	+	Splice_Site	SNP	A	A	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr7:139636105A>T	ENST00000336425.5	+	9	838	c.449A>T	c.(448-450)gAg>gTg	p.E150V	TBXAS1_ENST00000448866.1_Splice_Site_p.E150V|TBXAS1_ENST00000263552.6_Splice_Site_p.E151V|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Splice_Site_p.E150V|TBXAS1_ENST00000414508.2_Splice_Site_p.E151V|TBXAS1_ENST00000436047.2_Splice_Site_p.E151V|TBXAS1_ENST00000416849.2_Splice_Site_p.E151V|TBXAS1_ENST00000411653.1_Splice_Site_p.E150V|TBXAS1_ENST00000425687.1_Splice_Site_p.E83V			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	150					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	AAGCTGAACGAGGTAAGACAT	0.473																																						uc011kqv.1		NA																	0				ovary(2)|breast(1)	3						c.(451-453)GAG>GTG		thromboxane A synthase 1, platelet isoform							174.0	172.0	173.0					7																	139636105		2203	4300	6503	SO:0001630	splice_region_variant	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139636105A>T	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.450+1A>T	7.37:g.139636105A>T						TBXAS1_uc003vvh.2_Missense_Mutation_p.E151V|TBXAS1_uc010lne.2_Missense_Mutation_p.E83V|TBXAS1_uc011kqu.1_Missense_Mutation_p.E102V|TBXAS1_uc003vvi.2_Missense_Mutation_p.E151V|TBXAS1_uc003vvj.2_Missense_Mutation_p.E151V|TBXAS1_uc011kqw.1_Missense_Mutation_p.E131V	p.E151V	NM_001130966	NP_001124438	P24557	THAS_HUMAN			5	616	+	Melanoma(164;0.0142)		150			Cytoplasmic (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.452A>T		.	.	.	.	.	.	.	.	.	.	A	17.79	3.476027	0.63737	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000438104;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T;T	0.69685	-0.42;-0.42;4.05;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.21	5.21	0.72293	.	0.046879	0.85682	D	0.000000	T	0.81143	0.4761	M	0.84326	2.69	0.80722	D	1	P;D;B;D;P;B;B	0.71674	0.775;0.998;0.131;0.996;0.678;0.075;0.075	P;D;B;D;P;B;B	0.70935	0.809;0.971;0.103;0.958;0.616;0.103;0.103	T	0.80946	-0.1155	10	0.31617	T	0.26	.	13.6562	0.62339	1.0:0.0:0.0:0.0	.	131;151;102;83;151;151;150	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	V	83;151;150;150;151;151;151;150;150;150	ENSP00000388736:E83V;ENSP00000263552:E151V;ENSP00000388612:E150V;ENSP00000338087:E150V;ENSP00000389414:E151V;ENSP00000392361:E151V;ENSP00000392702:E151V;ENSP00000402536:E150V;ENSP00000411274:E150V;ENSP00000411326:E150V	ENSP00000263552:E151V	E	+	2	0	TBXAS1	139282574	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.051000	0.71072	1.973000	0.57446	0.533000	0.62120	GAG		0.473	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1		Missense_Mutation	92	288	0	0	0	0	92	288				
EPHA1	2041	broad.mit.edu	37	7	143088775	143088775	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr7:143088775G>T	ENST00000275815.3	-	17	2876	c.2790C>A	c.(2788-2790)taC>taA	p.Y930*	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	930	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGTGCAGGATGTAGCGTTTCA	0.607																																						uc003wcz.2		NA																	0				ovary(3)|lung(1)|breast(1)	5						c.(2788-2790)TAC>TAA		ephrin receptor EphA1 precursor							80.0	59.0	66.0					7																	143088775		2203	4300	6503	SO:0001587	stop_gained	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143088775G>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2790C>A	7.37:g.143088775G>T	ENSP00000275815:p.Tyr930*						p.Y930*	NM_005232	NP_005223	P21709	EPHA1_HUMAN			17	2877	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	930			SAM.|Cytoplasmic (Potential).		A1L3V3|B5A966|B5A967|Q15405	Nonsense_Mutation	SNP	ENST00000275815.3	37	c.2790C>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	38	6.864960	0.97897	.	.	ENSG00000146904	ENST00000275815	.	.	.	4.67	2.83	0.33086	.	0.253231	0.28176	N	0.016306	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8463	0.29426	0.1445:0.0:0.7241:0.1315	.	.	.	.	X	930	.	ENSP00000275815:Y930X	Y	-	3	2	EPHA1	142798897	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	1.076000	0.30729	0.678000	0.31325	-0.314000	0.08810	TAC		0.607	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			13	41	1	0	1.03e-11	1.25e-11	13	41				
TBC1D31	93594	broad.mit.edu	37	8	124156985	124156985	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr8:124156985G>A	ENST00000287380.1	+	20	2954	c.2864G>A	c.(2863-2865)cGt>cAt	p.R955H	TBC1D31_ENST00000327098.5_Missense_Mutation_p.R859H|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R890H|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R832H|TBC1D31_ENST00000518805.1_Missense_Mutation_p.R509H|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R850H	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	955						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										AAAGAGTTCCGTTTGAGATCA	0.358																																						uc003ypp.1		NA																	0				skin(1)	1						c.(2863-2865)CGT>CAT		WD repeat domain 67 isoform 1							71.0	72.0	72.0					8																	124156985		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124156985G>A	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2864G>A	8.37:g.124156985G>A	ENSP00000287380:p.Arg955His					WDR67_uc011lig.1_Missense_Mutation_p.R859H|WDR67_uc011lih.1_Missense_Mutation_p.R845H|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R589H|WDR67_uc003ypt.1_Missense_Mutation_p.R347H|WDR67_uc003ypu.1_Missense_Mutation_p.R347H	p.R955H	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		20	2954	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		955					B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.2864G>A	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	G	0.341	-0.950235	0.02285	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000518805	D;T;T;D;D;D	0.86497	-2.13;-0.02;-0.01;-2.13;-2.13;-2.13	5.13	-2.22	0.06952	.	0.722904	0.13939	N	0.352330	T	0.61689	0.2367	N	0.01576	-0.805	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.55198	-0.8178	10	0.27785	T	0.31	-0.1241	5.7885	0.18347	0.5561:0.1345:0.3094:0.0	.	859;890;850;955	B7ZL19;Q96DN5-2;E7ERK7;Q96DN5	.;.;.;WDR67_HUMAN	H	955;890;859;850;832;509	ENSP00000287380:R955H;ENSP00000308358:R890H;ENSP00000312701:R859H;ENSP00000429334:R850H;ENSP00000430628:R832H;ENSP00000429494:R509H	ENSP00000287380:R955H	R	+	2	0	WDR67	124226166	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.577000	0.23758	-0.090000	0.12462	-0.948000	0.02665	CGT		0.358	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		24	101	0	0	0	0	24	101				
ADCY8	114	broad.mit.edu	37	8	131949376	131949376	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr8:131949376C>T	ENST00000286355.5	-	5	3516	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	ADCY8_ENST00000377928.3_Missense_Mutation_p.R475H|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	475					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)|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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGGTCCTGGCGGGGCTCAGG	0.507										HNSCC(32;0.087)																												uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1423-1425)CGC>CAC		adenylate cyclase 8							114.0	104.0	108.0					8																	131949376		2203	4300	6503	SO:0001583	missense	114				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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131949376C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1424G>A	8.37:g.131949376C>T	ENSP00000286355:p.Arg475His	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.R475H	p.R475H	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		5	1680	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		475			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.1424G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245953	0.95272	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.81739	-1.53;-1.53;-1.53	5.61	5.61	0.85477	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.120703	0.56097	D	0.000021	D	0.89483	0.6728	M	0.80847	2.515	0.44409	D	0.99732	D;D	0.76494	0.999;0.999	P;P	0.62560	0.807;0.904	D	0.90391	0.4395	10	0.72032	D	0.01	.	18.6261	0.91340	0.0:1.0:0.0:0.0	.	475;475	E7EVL1;P40145	.;ADCY8_HUMAN	H	475;475;90	ENSP00000286355:R475H;ENSP00000367161:R475H;ENSP00000428010:R90H	ENSP00000286355:R475H	R	-	2	0	ADCY8	132018558	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.937000	0.63513	2.657000	0.90304	0.655000	0.94253	CGC		0.507	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			25	131	0	0	0	0	25	131				
PTK2	5747	broad.mit.edu	37	8	141678371	141678371	+	Silent	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr8:141678371C>T	ENST00000522684.1	-	30	3091	c.2862G>A	c.(2860-2862)gtG>gtA	p.V954V	PTK2_ENST00000340930.3_Silent_p.V967V|PTK2_ENST00000519419.1_Silent_p.V998V|PTK2_ENST00000517887.1_Silent_p.V998V|PTK2_ENST00000517712.1_Silent_p.V17V|PTK2_ENST00000535192.1_Silent_p.V908V|PTK2_ENST00000521059.1_Silent_p.V954V|PTK2_ENST00000519465.1_Silent_p.V582V|PTK2_ENST00000538769.1_Silent_p.V622V|PTK2_ENST00000430260.2_Silent_p.V264V|PTK2_ENST00000395218.2_Silent_p.V967V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	954	Interaction with ARHGEF28. {ECO:0000250}.|Interaction with TGFB1I1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATTTTACCTTCACCATAGGGA	0.488											OREG0019022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yvu.2		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(2860-2862)GTG>GTA		PTK2 protein tyrosine kinase 2 isoform a							82.0	77.0	79.0					8																	141678371		2203	4300	6503	SO:0001819	synonymous_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141678371C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2862G>A	8.37:g.141678371C>T			OREG0019022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1665	PTK2_uc011ljp.1_Silent_p.V262V|PTK2_uc003yvo.2_Silent_p.V582V|PTK2_uc011ljq.1_Silent_p.V652V|PTK2_uc003yvp.2_Silent_p.V622V|PTK2_uc003yvq.2_Silent_p.V459V|PTK2_uc003yvr.2_Silent_p.V897V|PTK2_uc003yvs.2_Silent_p.V908V|PTK2_uc003yvt.2_Silent_p.V976V|PTK2_uc003yvv.2_Silent_p.V857V|PTK2_uc011ljr.1_Silent_p.V967V	p.V954V	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		30	3092	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	954			Interaction with TGFB1I1.|Interaction with RGNEF (By similarity).		B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	37	c.2862G>A	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	9.463	1.093695	0.20471	.	.	ENSG00000169398	ENST00000519654	.	.	.	5.62	4.56	0.56223	.	.	.	.	.	T	0.60573	0.2279	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57213	-0.7850	4	.	.	.	.	9.8486	0.41043	0.0:0.7444:0.1315:0.1242	.	.	.	.	K	919	.	.	E	-	1	0	PTK2	141747553	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.109000	0.31135	2.643000	0.89663	0.655000	0.94253	GAA		0.488	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		22	83	0	0	0	0	22	83				
PTK2	5747	broad.mit.edu	37	8	141856357	141856357	+	Splice_Site	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr8:141856357A>G	ENST00000522684.1	-	7	823		c.e7+1		PTK2_ENST00000340930.3_Splice_Site|PTK2_ENST00000519419.1_Splice_Site|PTK2_ENST00000517887.1_Splice_Site|PTK2_ENST00000535192.1_Splice_Site|PTK2_ENST00000521059.1_Splice_Site|PTK2_ENST00000395218.2_Splice_Site	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TACAATACTTACTCTAATACT	0.303																																						uc003yvu.2		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.e7+1		PTK2 protein tyrosine kinase 2 isoform a							61.0	61.0	61.0					8																	141856357		2203	4295	6498	SO:0001630	splice_region_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141856357A>G	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.593+1T>C	8.37:g.141856357A>G						PTK2_uc003yvq.2_Intron|PTK2_uc003yvr.2_Splice_Site_p.E97_splice|PTK2_uc003yvs.2_Splice_Site_p.E198_splice|PTK2_uc003yvt.2_Splice_Site_p.E220_splice|PTK2_uc003yvv.2_Splice_Site_p.E85_splice|PTK2_uc011ljr.1_Splice_Site_p.E198_splice	p.E198_splice	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		7	823	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)						B4E2N6|F5H4S4|Q14291|Q9UD85	Splice_Site	SNP	ENST00000522684.1	37	c.593_splice	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.821015	0.71028	.	.	ENSG00000169398	ENST00000522684;ENST00000519654;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000342207	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1858	0.72999	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTK2	141925539	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.977000	0.70492	2.136000	0.66102	0.454000	0.30748	.		0.303	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607	Intron	27	124	0	0	0	0	27	124				
KIF27	55582	broad.mit.edu	37	9	86482718	86482718	+	Missense_Mutation	SNP	G	G	A	rs3199677		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr9:86482718G>A	ENST00000297814.2	-	13	2958	c.2815C>T	c.(2815-2817)Cgc>Tgc	p.R939C	RP11-575L7.4_ENST00000591217.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.R873C|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|KIF27_ENST00000334204.2_Intron|RP11-575L7.4_ENST00000589233.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	939					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R939C(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AATTCTTGGCGTTGGTTCAGA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		14448	0.0		0.001	False		,,,				2504	0.0					uc004ana.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	lung(4)|skin(1)	5						c.(2815-2817)CGC>TGC		kinesin family member 27		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	106.0	107.0		2815	4.2	1.0	9	dbSNP_105	107	0,8600		0,0,4300	no	missense	KIF27	NM_017576.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	939/1402	86482718	1,13005	2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86482718G>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2815C>T	9.37:g.86482718G>A	ENSP00000297814:p.Arg939Cys					KIF27_uc010mpw.2_Missense_Mutation_p.R873C|KIF27_uc010mpx.2_Intron	p.R939C	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			13	2959	-			939			Potential.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.2815C>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134716	0.56828	2.27E-4	0.0	ENSG00000165115	ENST00000297814;ENST00000413982	T;T	0.35973	1.28;1.28	4.22	4.22	0.49857	.	0.332899	0.20410	U	0.092866	T	0.53061	0.1773	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.826	T	0.57568	-0.7789	10	0.72032	D	0.01	.	11.951	0.52954	0.0:0.0:0.8265:0.1735	.	873;939	Q86VH2-2;Q86VH2	.;KIF27_HUMAN	C	939;873	ENSP00000297814:R939C;ENSP00000401688:R873C	ENSP00000297814:R939C	R	-	1	0	KIF27	85672538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.908000	0.48750	2.166000	0.68216	0.484000	0.47621	CGC		0.373	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		18	158	0	0	0	0	18	158				
SCAI	286205	broad.mit.edu	37	9	127734036	127734036	+	Missense_Mutation	SNP	C	C	T	rs371655620		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr9:127734036C>T	ENST00000336505.6	-	16	1545	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	SCAI_ENST00000373549.4_Missense_Mutation_p.R519H	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	496					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TAGGCCTCTGCGCATGCTTGA	0.423																																						uc004bpe.2		NA																	0				ovary(2)|breast(2)|central_nervous_system(1)	5						c.(1486-1488)CGC>CAC		suppressor of cancer cell invasion isoform 2		C	HIS/ARG,HIS/ARG	0,3724		0,0,1862	150.0	135.0	140.0		1487,1556	4.9	1.0	9		140	1,8215		0,1,4107	no	missense,missense	SCAI	NM_001144877.2,NM_173690.4	29,29	0,1,5969	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,probably-damaging	496/607,519/630	127734036	1,11939	1862	4108	5970	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127734036C>T	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1487G>A	9.37:g.127734036C>T	ENSP00000336756:p.Arg496His					SCAI_uc004bpd.2_Missense_Mutation_p.R519H|SCAI_uc010mwu.2_RNA	p.R496H	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN			16	1568	-			496					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.1487G>A	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782300	0.49891	0.0	1.22E-4	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.44083	0.93;0.93	4.95	4.95	0.65309	.	0.105653	0.64402	D	0.000003	T	0.45597	0.1350	L	0.31294	0.92	0.49915	D	0.999832	D;D	0.58970	0.984;0.98	P;P	0.52823	0.71;0.681	T	0.43988	-0.9357	10	0.52906	T	0.07	-7.3712	17.5582	0.87898	0.0:1.0:0.0:0.0	.	496;519	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	H	496;519	ENSP00000336756:R496H;ENSP00000362650:R519H	ENSP00000336756:R496H	R	-	2	0	SCAI	126773857	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.397000	0.52572	2.465000	0.83290	0.655000	0.94253	CGC		0.423	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		53	163	0	0	0	0	53	163				
XIAP	331	broad.mit.edu	37	X	123040864	123040864	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chrX:123040864C>T	ENST00000371199.3	+	7	1626	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	XIAP_ENST00000434753.3_Missense_Mutation_p.R443C|XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000355640.3_Missense_Mutation_p.R443C	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	443					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GCAGCTAAGGCGCCTGCAAGA	0.343									X-linked Lymphoproliferative syndrome																													uc010nqu.2		NA																	0				ovary(1)|lung(1)	2						c.(1327-1329)CGC>TGC		baculoviral IAP repeat-containing protein 4							74.0	72.0	73.0					X																	123040864		2203	4300	6503	SO:0001583	missense	331	X-linked_Lymphoproliferative_syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123040864C>T	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1327C>T	X.37:g.123040864C>T	ENSP00000360242:p.Arg443Cys					XIAP_uc004etx.2_Missense_Mutation_p.R443C|XIAP_uc010nqv.2_Missense_Mutation_p.R69C	p.R443C	NM_001167	NP_001158	P98170	XIAP_HUMAN			7	1453	+			443					D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.1327C>T	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	c	16.50	3.141282	0.57044	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.03982	3.74;3.74;3.74	5.27	5.27	0.74061	Baculoviral inhibition of apoptosis protein repeat (1);	0.298987	0.29438	N	0.012151	T	0.09468	0.0233	L	0.50333	1.59	0.53005	D	0.999966	D	0.64830	0.994	P	0.45610	0.487	T	0.02491	-1.1151	10	0.87932	D	0	-4.2028	17.6164	0.88068	0.0:1.0:0.0:0.0	.	443	P98170	XIAP_HUMAN	C	443	ENSP00000395230:R443C;ENSP00000360242:R443C;ENSP00000347858:R443C	ENSP00000347858:R443C	R	+	1	0	XIAP	122868545	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	3.557000	0.53741	2.190000	0.69967	0.594000	0.82650	CGC		0.343	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		37	33	0	0	0	0	37	33				
DCAF12L1	139170	broad.mit.edu	37	X	125685920	125685920	+	Silent	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chrX:125685920C>T	ENST00000371126.1	-	1	914	c.672G>A	c.(670-672)ccG>ccA	p.P224P		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	224								p.P224P(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGAACTTGTCCGGGTCCATCC	0.642																																						uc004eul.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	skin(3)|ovary(1)	4						c.(670-672)CCG>CCA		DDB1 and CUL4 associated factor 12-like 1							34.0	36.0	35.0					X																	125685920		2202	4297	6499	SO:0001819	synonymous_variant	139170							g.chrX:125685920C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.672G>A	X.37:g.125685920C>T							p.P224P	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	923	-			224			WD 2.		Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.672G>A	CCDS14610.1																																																																																				0.642	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		33	33	0	0	0	0	33	33				
ARHGAP36	158763	broad.mit.edu	37	X	130215772	130215772	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chrX:130215772C>G	ENST00000276211.5	+	2	478	c.133C>G	c.(133-135)Cgc>Ggc	p.R45G	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R33G|ARHGAP36_ENST00000370921.1_5'Flank	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	45					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CAACCCCGACCGCAGGACGAA	0.547																																						uc004evz.2		NA																	0				ovary(3)	3						c.(133-135)CGC>GGC		hypothetical protein LOC158763 precursor							155.0	127.0	137.0					X																	130215772		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130215772C>G		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.133C>G	X.37:g.130215772C>G	ENSP00000276211:p.Arg45Gly					ARHGAP36_uc004ewa.2_Missense_Mutation_p.R33G|ARHGAP36_uc004ewb.2_Missense_Mutation_p.R14G|ARHGAP36_uc004ewc.2_5'Flank	p.R45G	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			2	478	+			45					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.133C>G	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	4.282	0.051467	0.08291	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432	T;T;T	0.10477	2.88;2.87;2.89	4.16	0.121	0.14695	.	0.857059	0.09796	N	0.754700	T	0.07052	0.0179	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29646	0.239;0.239;0.253	B;B;B	0.34536	0.185;0.185;0.127	T	0.41197	-0.9522	10	0.72032	D	0.01	.	2.4408	0.04494	0.1829:0.3548:0.3521:0.1102	.	14;33;45	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	G	45;33;14	ENSP00000276211:R45G;ENSP00000359960:R33G;ENSP00000408515:R14G	ENSP00000276211:R45G	R	+	1	0	ARHGAP36	130043453	0.065000	0.20965	0.001000	0.08648	0.089000	0.18198	0.374000	0.20501	-0.105000	0.12132	0.544000	0.68410	CGC		0.547	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		73	143	0	0	0	0	73	143				
EPHA2	1969	broad.mit.edu	37	1	16461022	16461023	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:16461022_16461023insA	ENST00000358432.5	-	8	1776_1777	c.1622_1623insT	c.(1621-1623)gtgfs	p.V541fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	541					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CACCGACAGCCACGCCGCCAAT	0.594																																						uc001aya.1		NA																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(1621-1623)GTGfs		ephrin receptor EphA2 precursor	Dasatinib(DB01254)																																			SO:0001589	frameshift_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16461022_16461023insA	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1623dupT	1.37:g.16461023_16461023dupA	ENSP00000351209:p.Val541fs						p.V541fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	8	1759_1760	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	541			Helical; (Potential).		B5A968|Q8N3Z2	Frame_Shift_Ins	INS	ENST00000358432.5	37	c.1622_1623insT	CCDS169.1																																																																																				0.594	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		18	57	NA	NA	NA	NA	18	57	---	---	---	---
CDYL2	124359	broad.mit.edu	37	16	80646543	80646543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:80646543delG	ENST00000570137.2	-	5	1353	c.1198delC	c.(1198-1200)cagfs	p.Q400fs	CDYL2_ENST00000566173.1_Frame_Shift_Del_p.Q401fs|CDYL2_ENST00000563890.1_Frame_Shift_Del_p.Q401fs|CDYL2_ENST00000562812.1_Frame_Shift_Del_p.Q401fs	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	400						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CCCAGGATCTGGGGGAAGGTG	0.627																																						uc002ffs.2		NA																	0				central_nervous_system(1)	1						c.(1198-1200)CAGfs		chromodomain protein, Y-like 2							76.0	78.0	77.0					16																	80646543		2203	4300	6503	SO:0001589	frameshift_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80646543delG	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1198delC	16.37:g.80646543delG	ENSP00000476295:p.Gln400fs						p.Q400fs	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			5	1303	-			400					Q7Z5I8	Frame_Shift_Del	DEL	ENST00000570137.2	37	c.1198delC	CCDS32493.1																																																																																				0.627	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		44	184	NA	NA	NA	NA	44	184	---	---	---	---
