#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
AGRN	375790	broad.mit.edu	37	1	957650	957650	+	Missense_Mutation	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:957650A>G	ENST00000379370.2	+	2	321	c.271A>G	c.(271-273)Aag>Gag	p.K91E		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	91	NtA. {ECO:0000255|PROSITE- ProRule:PRU00443}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CGGCGGCAACAAGGTGGTGAT	0.602																																						uc001ack.1		NaN																	0				central_nervous_system(2)|breast(1)	3						c.(271-273)AAG>GAG		agrin precursor							120.0	130.0	126.0					1																	957650		2203	4300	6503	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:957650A>G	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.271A>G	1.37:g.957650A>G	ENSP00000368678:p.Lys91Glu						p.K91E	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	2	321	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	91			NtA.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.271A>G	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.464386	0.84425	.	.	ENSG00000188157	ENST00000379370	T	0.38240	1.15	3.88	3.88	0.44766	Agrin NtA (2);Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.000000	0.44285	U	0.000464	T	0.43433	0.1247	N	0.19112	0.55	0.42490	D	0.992893	D	0.64830	0.994	D	0.77557	0.99	T	0.48139	-0.9061	10	0.62326	D	0.03	-21.2792	13.1646	0.59562	1.0:0.0:0.0:0.0	.	91	O00468	AGRIN_HUMAN	E	91	ENSP00000368678:K91E	ENSP00000368678:K91E	K	+	1	0	AGRN	947513	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	8.598000	0.90852	1.770000	0.52166	0.459000	0.35465	AAG		0.602	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2		NM_198576		37	78	0	0	0	0.235728	0	37	78		
GJB4	127534	broad.mit.edu	37	1	35227230	35227230	+	Silent	SNP	C	C	T	rs147830069		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:35227230C>T	ENST00000339480.1	+	2	745	c.375C>T	c.(373-375)ggC>ggT	p.G125G	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	125					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGAAGCGGGGCGGACTGTGGT	0.592																																						uc001bxv.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(373-375)GGC>GGT		gap junction protein, beta 4		C		0,4406		0,0,2203	99.0	72.0	81.0		375	-6.3	0.8	1	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GJB4	NM_153212.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		125/267	35227230	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227230C>T		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.375C>T	1.37:g.35227230C>T						GJB4_uc001bxw.3_Silent_p.G125G	p.G125G	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN			2	745	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	125			Cytoplasmic (Potential).		B3KQ82	Silent	SNP	ENST00000339480.1	37	c.375C>T	CCDS383.1																																																																																				0.592	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1		NM_153212		14	28	0	0	0	0.132662	0	14	28		
OXCT2	64064	broad.mit.edu	37	1	40236123	40236123	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:40236123C>T	ENST00000327582.5	-	1	897	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	BMP8B_ENST00000372827.3_Intron|BMP8B_ENST00000397360.2_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	269					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	CCCTTTATCACGCGATCTACA	0.532											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ceb.1		NaN																	0				pancreas(1)	1						c.(805-807)GTG>ATG		3-oxoacid CoA transferase 2 precursor	Succinic acid(DB00139)						84.0	105.0	98.0					1																	40236123		2195	4295	6490	SO:0001583	missense	64064				ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity	g.chr1:40236123C>T	AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.805G>A	1.37:g.40236123C>T	ENSP00000361914:p.Val269Met		OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	891	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron|OXCT2_uc009vvu.1_Missense_Mutation_p.V263M	p.V269M	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		1	898	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	269					B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Missense_Mutation	SNP	ENST00000327582.5	37	c.805G>A	CCDS445.1	.	.	.	.	.	.	.	.	.	.	c	13.80	2.343947	0.41498	.	.	ENSG00000198754	ENST00000327582	D	0.92805	-3.11	2.56	-3.34	0.04943	.	0.413235	0.22679	U	0.056972	D	0.92011	0.7469	.	.	.	0.09310	N	1	D;D	0.67145	0.993;0.996	P;D	0.65443	0.906;0.935	D	0.83562	0.0107	9	0.87932	D	0	.	0.8403	0.01149	0.1542:0.2115:0.3045:0.3297	.	269;269	B3KS89;Q9BYC2	.;SCOT2_HUMAN	M	269	ENSP00000361914:V269M	ENSP00000361914:V269M	V	-	1	0	OXCT2	40008710	0.005000	0.15991	0.000000	0.03702	0.010000	0.07245	0.031000	0.13710	-0.903000	0.03881	-0.250000	0.11733	GTG		0.532	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025656.1		NM_022120		22	107	0	0	0	0.234183	0	22	107		
PRPF38B	55119	broad.mit.edu	37	1	109242068	109242068	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:109242068G>A	ENST00000370025.4	+	6	1336	c.1067G>A	c.(1066-1068)aGa>aAa	p.R356K	PRPF38B_ENST00000370021.1_Missense_Mutation_p.R245K	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	356	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.R356T(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		gatcgagaaagagagaaagaa	0.478																																						uc001dvv.3		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(1066-1068)AGA>AAA		PRP38 pre-mRNA processing factor 38 (yeast)							40.0	38.0	39.0					1																	109242068		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109242068G>A	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1067G>A	1.37:g.109242068G>A	ENSP00000359042:p.Arg356Lys					PRPF38B_uc001dvw.3_Missense_Mutation_p.R245K|PRPF38B_uc010ouz.1_Missense_Mutation_p.R159K	p.R356K	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	6	1349	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	356			Arg-rich.		Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.1067G>A	CCDS788.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817938	0.32145	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.13089	4.05;2.62	5.39	5.39	0.77823	.	0.114922	0.64402	D	0.000012	T	0.02888	0.0086	N	0.08118	0	0.50632	D	0.99988	B	0.09022	0.002	B	0.09377	0.004	T	0.39583	-0.9607	10	0.31617	T	0.26	.	11.0622	0.47955	0.1448:0.0:0.8552:0.0	.	356	Q5VTL8	PR38B_HUMAN	K	356;245	ENSP00000359042:R356K;ENSP00000359038:R245K	ENSP00000359038:R245K	R	+	2	0	PRPF38B	109043591	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.244000	0.78228	2.698000	0.92095	0.591000	0.81541	AGA		0.478	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1		NM_018061		8	26	0	0	0	0.038147	0	8	26		
RSBN1	54665	broad.mit.edu	37	1	114340631	114340631	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:114340631T>C	ENST00000261441.5	-	2	794	c.731A>G	c.(730-732)cAg>cGg	p.Q244R		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	244						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCGGCTCTCTGGGTTTTACC	0.358																																						uc001edq.2		NaN																	0				ovary(1)	1						c.(730-732)CAG>CGG		round spermatid basic protein 1							82.0	88.0	86.0					1																	114340631		2191	4269	6460	SO:0001583	missense	54665					nucleus		g.chr1:114340631T>C	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.731A>G	1.37:g.114340631T>C	ENSP00000261441:p.Gln244Arg					RSBN1_uc001edr.2_RNA	p.Q244R	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	767	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	244					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.731A>G	CCDS862.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412939	0.62511	.	.	ENSG00000081019	ENST00000261441	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.66499	0.2795	L	0.44542	1.39	0.58432	D	0.99999	D	0.57899	0.981	D	0.70487	0.969	T	0.65977	-0.6037	9	0.40728	T	0.16	-8.66	16.8222	0.85835	0.0:0.0:0.0:1.0	.	244	Q5VWQ0	RSBN1_HUMAN	R	244	.	ENSP00000261441:Q244R	Q	-	2	0	RSBN1	114142154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.819000	0.48049	2.371000	0.80710	0.533000	0.62120	CAG		0.358	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2		NM_018364		44	71	0	0	0	0.11126	0	44	71		
ADAM30	11085	broad.mit.edu	37	1	120438648	120438648	+	Silent	SNP	A	A	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:120438648A>T	ENST00000369400.1	-	1	470	c.312T>A	c.(310-312)ccT>ccA	p.P104P		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	104					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTGGTATGTAAGGATGATCCT	0.502																																						uc001eij.2		NaN																	0		p.P104L(1)		ovary(2)|lung(1)	3						c.(310-312)CCT>CCA		ADAM metallopeptidase domain 30 preproprotein							66.0	64.0	65.0					1																	120438648		2203	4300	6503	SO:0001819	synonymous_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438648A>T	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.312T>A	1.37:g.120438648A>T							p.P104P	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	466	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	104					A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	37	c.312T>A	CCDS907.1																																																																																				0.502	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1		NM_021794		33	35	0	0	0	0.153744	0	33	35		
PDE4DIP	9659	broad.mit.edu	37	1	144922560	144922560	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:144922560T>C	ENST00000369354.3	-	7	1036	c.847A>G	c.(847-849)Att>Gtt	p.I283V	PDE4DIP_ENST00000369351.3_Missense_Mutation_p.I283V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I283V|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.I446V|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.I446V|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.I283V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I420V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.I420V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I349V|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.I70V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	283					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGTTCTGAATTGTACCATCT	0.388			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(847-849)ATT>GTT		phosphodiesterase 4D interacting protein isoform							323.0	333.0	329.0					1																	144922560		2203	4299	6502	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144922560T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.847A>G	1.37:g.144922560T>C	ENSP00000358360:p.Ile283Val					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.I349V|PDE4DIP_uc001emc.1_Missense_Mutation_p.I283V|PDE4DIP_uc001emd.1_Missense_Mutation_p.I283V|PDE4DIP_uc001emb.1_Missense_Mutation_p.I446V|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.I70V	p.I283V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	7	1138	-			283			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.847A>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.037230	0.54896	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.25579	3.64;3.69;3.65;3.88;3.85;2.77;2.79;1.94;1.97;1.79	6.06	4.94	0.65067	.	.	.	.	.	T	0.36690	0.0976	M	0.72894	2.215	0.80722	D	1	B;B;B;D;B	0.53151	0.012;0.005;0.019;0.958;0.014	B;B;B;D;B	0.69824	0.016;0.01;0.02;0.966;0.022	T	0.31668	-0.9935	9	0.72032	D	0.01	.	10.634	0.45554	0.0:0.0757:0.0:0.9243	.	446;283;446;349;283	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	V	349;283;283;446;420;420;283;283;446;446;70	ENSP00000327209:I349V;ENSP00000358360:I283V;ENSP00000358363:I283V;ENSP00000435654:I420V;ENSP00000358366:I420V;ENSP00000358357:I283V;ENSP00000358355:I283V;ENSP00000316434:I446V;ENSP00000433392:I446V;ENSP00000436791:I70V	ENSP00000327209:I349V	I	-	1	0	PDE4DIP	143633917	1.000000	0.71417	0.926000	0.36857	0.975000	0.68041	5.403000	0.66338	1.102000	0.41551	0.528000	0.53228	ATT		0.388	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		48	383	0	0	0	0.139131	0	48	383		
S100A5	6276	broad.mit.edu	37	1	153509783	153509783	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:153509783C>T	ENST00000368718.1	-	4	549	c.268G>A	c.(268-270)Gac>Aac	p.D90N	S100A6_ENST00000368720.2_5'Flank|BX470102.3_ENST00000420695.1_RNA|S100A6_ENST00000496817.1_5'Flank|S100A5_ENST00000359215.1_Missense_Mutation_p.D108N|S100A5_ENST00000368717.2_Missense_Mutation_p.D90N|S100A6_ENST00000368719.4_5'Flank	NM_002962.1	NP_002953.2	P33763	S10A5_HUMAN	S100 calcium binding protein A5	90						neuronal cell body (GO:0043025)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTTGTTGTCCTCTAGAAAG	0.582																																						uc001fbx.2		NaN																	0					0						c.(322-324)GAC>AAC		S100 calcium binding protein A5							190.0	153.0	166.0					1																	153509783		2203	4300	6503	SO:0001583	missense	6276					nucleus	calcium ion binding|copper ion binding|protein homodimerization activity|zinc ion binding	g.chr1:153509783C>T	Z18954	CCDS1041.1, CCDS1041.2	1q21	2013-01-10	2001-11-28		ENSG00000196420	ENSG00000196420		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10495	protein-coding gene	gene with protein product		176991	"""S100 calcium-binding protein A5"""	S100D		8341667	Standard	NM_002962		Approved		uc001fbx.3	P33763	OTTHUMG00000013547	ENST00000368718.1:c.268G>A	1.37:g.153509783C>T	ENSP00000357707:p.Asp90Asn					S100A6_uc001fbw.1_5'Flank	p.D108N	NM_002962	NP_002953	P33763	S10A5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	550	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		90					Q52LE7|Q5RHS3	Missense_Mutation	SNP	ENST00000368718.1	37	c.322G>A	CCDS1041.2	.	.	.	.	.	.	.	.	.	.	C	0.414	-0.911636	0.02434	.	.	ENSG00000196420	ENST00000368718;ENST00000359215;ENST00000368717	T;T;T	0.22539	1.95;3.51;1.95	4.41	3.49	0.39957	.	0.559622	0.19174	N	0.120862	T	0.03220	0.0094	.	.	.	0.33949	D	0.644232	B	0.06786	0.001	B	0.04013	0.001	T	0.37957	-0.9683	9	0.09843	T	0.71	.	7.5741	0.27926	0.0:0.8861:0.0:0.1139	.	108	Q52LE7	.	N	90;108;90	ENSP00000357707:D90N;ENSP00000352148:D108N;ENSP00000357706:D90N	ENSP00000352148:D108N	D	-	1	0	S100A5	151776407	0.100000	0.21855	0.994000	0.49952	0.121000	0.20230	-0.007000	0.12810	2.438000	0.82558	0.655000	0.94253	GAC		0.582	S100A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037719.1		NM_002962		31	33	0	0	0	0.134883	0	31	33		
ATF6	22926	broad.mit.edu	37	1	161771931	161771931	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:161771931G>A	ENST00000367942.3	+	7	845	c.778G>A	c.(778-780)Ggg>Agg	p.G260R		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	260					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TGCTGTTGCTGGGGGAGTCAC	0.532																																						uc001gbr.2		NaN																	0				ovary(2)|skin(1)	3						c.(778-780)GGG>AGG		activating transcription factor 6							118.0	103.0	108.0					1																	161771931		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161771931G>A	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.778G>A	1.37:g.161771931G>A	ENSP00000356919:p.Gly260Arg					ATF6_uc001gbq.1_Missense_Mutation_p.G260R	p.G260R	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		7	845	+	all_hematologic(112;0.156)		260			Cytoplasmic (Potential).		O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.778G>A	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111312	0.37242	.	.	ENSG00000118217	ENST00000367942	T	0.16073	2.37	5.75	3.56	0.40772	.	0.294044	0.38492	N	0.001668	T	0.05273	0.0140	L	0.29908	0.895	0.42291	D	0.992135	B;B	0.29508	0.078;0.246	B;B	0.28305	0.031;0.088	T	0.19976	-1.0289	9	0.41790	T	0.15	-1.7074	10.8917	0.47000	0.1784:0.0:0.8216:0.0	.	260;261	P18850;Q59H30	ATF6A_HUMAN;.	R	260	ENSP00000356919:G260R	ENSP00000356919:G260R	G	+	1	0	ATF6	160038555	0.996000	0.38824	0.052000	0.19188	0.855000	0.48748	2.641000	0.46587	1.435000	0.47434	0.655000	0.94253	GGG		0.532	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2		NM_007348		23	71	0	0	0	0.108266	0	23	71		
VAMP4	8674	broad.mit.edu	37	1	171707494	171707494	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:171707494C>T	ENST00000236192.7	-	2	447	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	VAMP4_ENST00000482519.1_5'UTR|VAMP4_ENST00000367740.2_Missense_Mutation_p.E21K|VAMP4_ENST00000415773.1_Missense_Mutation_p.E21K	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	21					Golgi to plasma membrane protein transport (GO:0043001)|regulation of Golgi to plasma membrane protein transport (GO:0042996)|SNARE complex assembly (GO:0035493)	cell surface (GO:0009986)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|SNARE complex (GO:0031201)|trans-Golgi network (GO:0005802)				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTTACCCTTTCACTTTTCACA	0.363																																						uc001ghx.1		NaN																	0					0						c.(61-63)GAA>AAA		vesicle-associated membrane protein 4							114.0	109.0	111.0					1																	171707494		2203	4300	6503	SO:0001583	missense	8674				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome		g.chr1:171707494C>T	AF044310	CCDS1298.1, CCDS53430.1	1q24-q25	2013-02-13			ENSG00000117533	ENSG00000117533		"""Vesicle-associated membrane proteins"""	12645	protein-coding gene	gene with protein product		606909				9553086	Standard	NM_003762		Approved		uc001ghx.2	O75379	OTTHUMG00000034788	ENST00000236192.7:c.61G>A	1.37:g.171707494C>T	ENSP00000236192:p.Glu21Lys					VAMP4_uc001ghw.1_RNA|VAMP4_uc001ghy.1_Missense_Mutation_p.E21K	p.E21K	NM_003762	NP_003753	O75379	VAMP4_HUMAN			2	275	-	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		21			Cytoplasmic (Potential).		A2IDD8|Q96IY9|Q96J20|Q9UEL7	Missense_Mutation	SNP	ENST00000236192.7	37	c.61G>A	CCDS1298.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197714	0.79015	.	.	ENSG00000117533	ENST00000236192;ENST00000415773;ENST00000367740	.	.	.	5.96	5.96	0.96718	.	0.124784	0.56097	D	0.000039	T	0.55816	0.1944	L	0.58101	1.795	0.80722	D	1	P;P	0.50156	0.932;0.888	P;B	0.48571	0.582;0.287	T	0.58244	-0.7670	9	0.54805	T	0.06	.	17.8952	0.88886	0.0:1.0:0.0:0.0	.	21;21	O75379-2;O75379	.;VAMP4_HUMAN	K	21	.	ENSP00000236192:E21K	E	-	1	0	VAMP4	169974117	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.497000	0.66924	2.819000	0.97034	0.585000	0.79938	GAA		0.363	VAMP4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000304033.2		NM_003762		6	27	0	0	0	0.038147	0	6	27		
MIR205HG	642587	broad.mit.edu	37	1	209602671	209602671	+	lincRNA	SNP	A	A	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:209602671A>T	ENST00000384891.1	+	0	0					NR_029622.1				MIR205 host gene (non-protein coding)																		GAGAGAAATCAACTATTCAGG	0.502																																						uc009xcn.2		NaN																	0					0						c.(28-30)CAA>CTA		hypothetical protein LOC642587							55.0	57.0	56.0					1																	209602671		1876	4086	5962			642587							g.chr1:209602671A>T			1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209602671A>T						LOC642587_uc010psk.1_5'Flank|MIR205_hsa-mir-205|MI0000285_5'Flank	p.Q10L	NM_001104548	NP_001098018				OV - Ovarian serous cystadenocarcinoma(81;0.0422)	2	412	+									Missense_Mutation	SNP	ENST00000384891.1	37	c.29A>T																																																																																					0.502	MIR205HG-202	KNOWN	basic	miRNA	lincRNA					2	4	0	0	0	0.115264	0	2	4		
DISP1	84976	broad.mit.edu	37	1	223116445	223116445	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:223116445C>T	ENST00000284476.6	+	2	444	c.280C>T	c.(280-282)Cat>Tat	p.H94Y	DISP1_ENST00000360254.2_Missense_Mutation_p.H94Y|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	94					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTTGACTAGCCATAGCAGTCA	0.532																																						uc001hnu.1		NaN																	0					0						c.(280-282)CAT>TAT		dispatched A							143.0	126.0	132.0					1																	223116445		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223116445C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.280C>T	1.37:g.223116445C>T	ENSP00000284476:p.His94Tyr						p.H94Y	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	2	427	+			94					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.280C>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512641	0.64522	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.92249	0.67;-3.0	5.62	5.62	0.85841	.	0.283507	0.34460	N	0.003947	D	0.91240	0.7239	L	0.56769	1.78	0.44123	D	0.996909	P	0.34909	0.475	B	0.34722	0.188	D	0.90653	0.4584	10	0.56958	D	0.05	-7.6089	19.6445	0.95771	0.0:1.0:0.0:0.0	.	94	Q96F81	DISP1_HUMAN	Y	94	ENSP00000355848:H94Y;ENSP00000284476:H94Y	ENSP00000284476:H94Y	H	+	1	0	DISP1	221183068	1.000000	0.71417	0.673000	0.29887	0.993000	0.82548	5.554000	0.67294	2.652000	0.90054	0.650000	0.86243	CAT		0.532	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1		NM_032890		29	94	0	0	0	0.144211	0	29	94		
LYST	1130	broad.mit.edu	37	1	235884187	235884187	+	Missense_Mutation	SNP	G	G	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:235884187G>C	ENST00000389794.3	-	40	9508	c.9334C>G	c.(9334-9336)Cac>Gac	p.H3112D	LYST_ENST00000389793.2_Missense_Mutation_p.H3112D|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3112					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGTATATTGTGGTATACATCA	0.338																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(9334-9336)CAC>GAC		lysosomal trafficking regulator							103.0	102.0	102.0					1																	235884187		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235884187G>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9334C>G	1.37:g.235884187G>C	ENSP00000374444:p.His3112Asp					LYST_uc001hxi.2_Missense_Mutation_p.H336D	p.H3112D	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		40	9509	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3112					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.9334C>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577495	0.45902	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.63255	-0.03;-0.03	5.8	5.8	0.92144	BEACH domain (1);PH-BEACH domain (1);	0.043502	0.85682	D	0.000000	T	0.45856	0.1363	N	0.11789	0.175	0.80722	D	1	P	0.37914	0.611	B	0.30029	0.11	T	0.53294	-0.8459	10	0.62326	D	0.03	.	20.0734	0.97734	0.0:0.0:1.0:0.0	.	3112	Q99698	LYST_HUMAN	D	3112	ENSP00000374444:H3112D;ENSP00000374443:H3112D	ENSP00000374443:H3112D	H	-	1	0	LYST	233950810	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.809000	0.99208	2.748000	0.94277	0.655000	0.94253	CAC		0.338	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				21	91	0	0	0	0.219247	0	21	91		
AHCTF1	25909	broad.mit.edu	37	1	247025300	247025300	+	Silent	SNP	T	T	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr1:247025300T>A	ENST00000391829.2	-	28	3819	c.3696A>T	c.(3694-3696)tcA>tcT	p.S1232S	AHCTF1_ENST00000366508.1_Silent_p.S1267S|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.S1241S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1232	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTCCACAAATGAAATTCTAG	0.398																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NaN																	0				ovary(5)|skin(2)	7						c.(3694-3696)TCA>TCT		transcription factor ELYS							59.0	58.0	58.0					1																	247025300		2203	4300	6503	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247025300T>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3696A>T	1.37:g.247025300T>A						AHCTF1_uc001ibv.1_Silent_p.S1241S|AHCTF1_uc009xgs.1_Silent_p.S93S|AHCTF1_uc001ibw.1_RNA	p.S1232S	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		27	3703	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1232			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.3696A>T																																																																																					0.398	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_015446		21	21	0	0	0	0.234183	0	21	21		
ARMC3	219681	broad.mit.edu	37	10	23326230	23326230	+	Missense_Mutation	SNP	C	C	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr10:23326230C>G	ENST00000298032.5	+	19	2525	c.2441C>G	c.(2440-2442)tCc>tGc	p.S814C	ARMC3_ENST00000409983.3_Missense_Mutation_p.S807C|ARMC3_ENST00000376528.4_Missense_Mutation_p.S551C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	814						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTGGTTGCTCCCTAGTTCGC	0.532																																						uc001irm.3		NaN																	0					0						c.(2440-2442)TCC>TGC		armadillo repeat containing 3							109.0	108.0	108.0					10																	23326230		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23326230C>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2441C>G	10.37:g.23326230C>G	ENSP00000298032:p.Ser814Cys					ARMC3_uc010qcv.1_Missense_Mutation_p.S807C|ARMC3_uc010qcw.1_Missense_Mutation_p.S551C	p.S814C	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			19	2524	+			814					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.2441C>G	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	8.110	0.778521	0.16120	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.40225	1.05;1.04;2.27	5.68	3.68	0.42216	.	0.764085	0.11883	N	0.520306	T	0.41994	0.1183	L	0.49455	1.56	0.37966	D	0.933144	B;B	0.20988	0.008;0.05	B;B	0.23716	0.014;0.048	T	0.43702	-0.9375	10	0.52906	T	0.07	-16.9705	14.7978	0.69891	0.0:0.4588:0.5412:0.0	.	807;814	Q5W041-4;Q5W041	.;ARMC3_HUMAN	C	814;807;551	ENSP00000298032:S814C;ENSP00000386943:S807C;ENSP00000365711:S551C	ENSP00000298032:S814C	S	+	2	0	ARMC3	23366236	0.992000	0.36948	0.456000	0.27044	0.008000	0.06430	1.650000	0.37292	1.360000	0.45960	0.655000	0.94253	TCC		0.532	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2		NM_173081		26	59	0	0	0	0.116897	0	26	59		
BAMBI	25805	broad.mit.edu	37	10	28970934	28970934	+	Missense_Mutation	SNP	T	T	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr10:28970934T>A	ENST00000375533.3	+	3	943	c.387T>A	c.(385-387)caT>caA	p.H129Q		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	129					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						GGTATCAGCATGATGGTAGCA	0.453																																						uc001iuj.1		NaN																	0				central_nervous_system(4)	4						c.(385-387)CAT>CAA		BMP and activin membrane-bound inhibitor							120.0	111.0	114.0					10																	28970934		2203	4300	6503	SO:0001583	missense	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28970934T>A	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"""BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"""			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.387T>A	10.37:g.28970934T>A	ENSP00000364683:p.His129Gln					BAMBI_uc001iui.2_3'UTR	p.H129Q	NM_012342	NP_036474	Q13145	BAMBI_HUMAN			3	790	+			129			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000375533.3	37	c.387T>A	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.496069	0.26774	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.86	-9.44	0.00603	.	0.253944	0.46145	N	0.000316	T	0.31827	0.0809	N	0.22421	0.69	0.40992	D	0.984869	B	0.02656	0.0	B	0.04013	0.001	T	0.16748	-1.0392	9	0.18276	T	0.48	-15.2709	12.9842	0.58581	0.0:0.5416:0.0985:0.3599	.	129	Q13145	BAMBI_HUMAN	Q	129;116	.	ENSP00000364683:H129Q	H	+	3	2	BAMBI	29010940	0.000000	0.05858	0.017000	0.16124	0.816000	0.46133	-3.472000	0.00459	-2.031000	0.00928	-1.027000	0.02421	CAT		0.453	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1		NM_012342		38	67	0	0	0	0.214465	0	38	67		
ZNF37A	7587	broad.mit.edu	37	10	38407014	38407014	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr10:38407014C>G	ENST00000361085.5	+	7	1280	c.935C>G	c.(934-936)tCa>tGa	p.S312*	ZNF37A_ENST00000351773.3_Nonsense_Mutation_p.S312*	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TATAAGAATTCAGACCTCATT	0.423																																						uc001izk.2		NaN																	0				breast(1)	1						c.(934-936)TCA>TGA		zinc finger protein 37a							67.0	72.0	70.0					10																	38407014		2203	4300	6503	SO:0001587	stop_gained	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407014C>G	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.935C>G	10.37:g.38407014C>G	ENSP00000354377:p.Ser312*					ZNF37A_uc001izl.2_Nonsense_Mutation_p.S312*|ZNF37A_uc001izm.2_Nonsense_Mutation_p.S312*	p.S312*	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			8	1754	+			312			C2H2-type 4.		B3KRQ3|D3DRZ3|Q96B88	Nonsense_Mutation	SNP	ENST00000361085.5	37	c.935C>G	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412686	0.62511	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	.	.	.	2.34	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	6.601	0.22701	0.0:0.8353:0.0:0.1647	.	.	.	.	X	312	.	ENSP00000329141:S312X	S	+	2	0	ZNF37A	38447020	0.000000	0.05858	0.385000	0.26158	0.303000	0.27691	-0.133000	0.10451	1.313000	0.45069	0.591000	0.81541	TCA		0.423	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2		NM_003421		36	76	0	0	0	0.193644	0	36	76		
MYOZ1	58529	broad.mit.edu	37	10	75391746	75391746	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr10:75391746G>A	ENST00000359322.4	-	6	1206	c.842C>T	c.(841-843)cCt>cTt	p.P281L	RP11-464F9.22_ENST00000609434.1_lincRNA	NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GTAGTCTACAGGCTCCCCAGA	0.532																																						uc001jur.2		NaN																	0				ovary(2)	2						c.(841-843)CCT>CTT		myozenin 1							86.0	85.0	86.0					10																	75391746		2203	4300	6503	SO:0001583	missense	58529				myofibril assembly	nucleus|pseudopodium	FATZ binding	g.chr10:75391746G>A	AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.842C>T	10.37:g.75391746G>A	ENSP00000352272:p.Pro281Leu						p.P281L	NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN			6	1207	-	Prostate(51;0.0112)		281						Missense_Mutation	SNP	ENST00000359322.4	37	c.842C>T	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025811	0.35701	.	.	ENSG00000177791	ENST00000359322	T	0.66099	-0.19	5.85	1.54	0.23209	.	0.323197	0.38111	N	0.001814	T	0.58177	0.2104	M	0.70595	2.14	0.18873	N	0.999981	B	0.18610	0.029	B	0.21917	0.037	T	0.51340	-0.8718	10	0.38643	T	0.18	-0.7453	10.5849	0.45278	0.064:0.0:0.3302:0.6058	.	281	Q9NP98	MYOZ1_HUMAN	L	281	ENSP00000352272:P281L	ENSP00000352272:P281L	P	-	2	0	MYOZ1	75061752	0.392000	0.25229	0.949000	0.38748	0.995000	0.86356	0.699000	0.25586	0.009000	0.14813	-0.181000	0.13052	CCT		0.532	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1				21	32	0	0	0	0.204396	0	21	32		
RNLS	55328	broad.mit.edu	37	10	90034726	90034726	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr10:90034726G>A	ENST00000371947.3	-	7	2279	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	RNLS_ENST00000437752.1_Missense_Mutation_p.P231S	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	0					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AGTCAGATGGGAAATCCAATC	0.418																																						uc001kfd.2		NaN																	0				ovary(1)	1						c.(940-942)CCC>TCC		renalase isoform 2							116.0	98.0	104.0					10																	90034726		2203	4300	6503	SO:0001583	missense	55328					extracellular region	oxidoreductase activity	g.chr10:90034726G>A	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000371947.3:c.940C>T	10.37:g.90034726G>A	ENSP00000361015:p.Pro314Ser					RNLS_uc010qms.1_Missense_Mutation_p.P231S	p.P314S	NM_018363	NP_060833	Q5VYX0	RNLS_HUMAN			7	1075	-			Error:Variant_position_missing_in_Q5VYX0_after_alignment					Q9BS33|Q9NUP8	Missense_Mutation	SNP	ENST00000371947.3	37	c.940C>T	CCDS7388.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145525	0.37825	.	.	ENSG00000184719	ENST00000371947;ENST00000437752	T;T	0.46451	0.91;0.87	2.01	-1.29	0.09288	.	.	.	.	.	T	0.16727	0.0402	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17018	-1.0383	9	0.87932	D	0	.	2.7287	0.05221	0.3454:0.2547:0.4:0.0	.	231;314	B4DJW3;Q5VYX0-2	.;.	S	314;231	ENSP00000361015:P314S;ENSP00000387577:P231S	ENSP00000361015:P314S	P	-	1	0	RNLS	90024706	0.024000	0.19004	0.000000	0.03702	0.002000	0.02628	0.161000	0.16481	-0.352000	0.08237	-0.142000	0.14014	CCC		0.418	RNLS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049249.1		NM_018363		10	40	0	0	0	0.069234	0	10	40		
SORBS1	10580	broad.mit.edu	37	10	97141472	97141472	+	Silent	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr10:97141472G>T	ENST00000361941.3	-	16	1649	c.1623C>A	c.(1621-1623)ggC>ggA	p.G541G	SORBS1_ENST00000371227.4_Silent_p.G495G|SORBS1_ENST00000371249.2_Silent_p.G463G|SORBS1_ENST00000371247.2_Silent_p.G541G|SORBS1_ENST00000371246.2_Silent_p.G563G|SORBS1_ENST00000347291.4_Silent_p.G409G|SORBS1_ENST00000393949.1_Silent_p.G511G|SORBS1_ENST00000371241.1_Silent_p.G331G|SORBS1_ENST00000371245.3_Silent_p.G426G|SORBS1_ENST00000354106.3_Silent_p.G511G|SORBS1_ENST00000371239.1_Silent_p.G340G|SORBS1_ENST00000306402.6_Silent_p.G372G|SORBS1_ENST00000353505.5_Silent_p.G426G|SORBS1_ENST00000607232.1_Silent_p.G330G|SORBS1_ENST00000277982.5_Silent_p.G563G|SORBS1_ENST00000474353.2_5'UTR	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CGGAAGACTTGCCAGGCTGAT	0.403																																						uc001kkp.2		NaN																	0				breast(1)	1						c.(1621-1623)GGC>GGA		sorbin and SH3 domain containing 1 isoform 3							204.0	194.0	197.0					10																	97141472		2203	4300	6503	SO:0001819	synonymous_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97141472G>T	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1623C>A	10.37:g.97141472G>T						SORBS1_uc001kkk.2_Silent_p.G119G|SORBS1_uc001kkl.2_Silent_p.G143G|SORBS1_uc001kkn.2_Silent_p.G328G|SORBS1_uc001kkm.2_Silent_p.G397G|SORBS1_uc001kko.2_Silent_p.G563G|SORBS1_uc001kkq.2_Silent_p.G426G|SORBS1_uc001kkr.2_Silent_p.G331G|SORBS1_uc001kks.2_Silent_p.G331G|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.G372G|SORBS1_uc001kkv.2_Silent_p.G463G|SORBS1_uc001kkw.2_Silent_p.G495G|SORBS1_uc010qoe.1_Silent_p.G340G|SORBS1_uc010qof.1_Silent_p.G693G	p.G541G	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	16	1668	-		Colorectal(252;0.0429)	541						Silent	SNP	ENST00000361941.3	37	c.1623C>A	CCDS31255.1																																																																																				0.403	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1				14	79	1	0	2.32078e-09	0.132662	2.50046e-09	14	79		
PPRC1	23082	broad.mit.edu	37	10	103907098	103907098	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr10:103907098C>T	ENST00000278070.2	+	9	4388	c.4349C>T	c.(4348-4350)tCa>tTa	p.S1450L	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.S417L|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1450	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCGTCTTCCTCATCCCGATCT	0.597																																						uc001kum.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4348-4350)TCA>TTA		peroxisome proliferator-activated receptor							113.0	90.0	98.0					10																	103907098		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103907098C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4349C>T	10.37:g.103907098C>T	ENSP00000278070:p.Ser1450Leu					PPRC1_uc001kun.2_Missense_Mutation_p.S1330L|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	p.S1450L	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4388	+		Colorectal(252;0.122)	1450			Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4349C>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461605	0.63513	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.51071	0.72;0.72	5.49	3.52	0.40303	.	0.253148	0.41396	D	0.000899	T	0.48333	0.1494	N	0.19112	0.55	0.80722	D	1	D;D	0.63046	0.992;0.986	P;P	0.59357	0.856;0.722	T	0.44436	-0.9328	10	0.29301	T	0.29	.	15.7583	0.78054	0.0:0.7427:0.2573:0.0	.	1330;1450	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	L	1450;417	ENSP00000278070:S1450L;ENSP00000359029:S417L	ENSP00000278070:S1450L	S	+	2	0	PPRC1	103897088	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.845000	0.39279	1.262000	0.44165	0.462000	0.41574	TCA		0.597	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062		34	22	0	0	0	0.193644	0	34	22		
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr11:533875G>T	ENST00000451590.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		63	Substitution - Missense(63)	p.Q61R(112)|p.Q61L(91)|p.Q61K(39)|p.Q61H(20)|p.Q61P(3)|p.Q61Q(1)|p.Q61E(1)	thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749						c.(181-183)CAG>AAG		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						117.0	102.0	107.0					11																	533875		2203	4300	6503	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533875G>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.181C>A	11.37:g.533875G>T	ENSP00000407586:p.Gln61Lys	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.Q61K|HRAS_uc010qvx.1_Missense_Mutation_p.Q61K|HRAS_uc010qvy.1_RNA	p.Q61K	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61	Q->V: Strongly increased transformation of cultured cell lines.|Q->I: Moderately increased transformation of cultured cell lines.	Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.181C>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855718	0.51376	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	H	0.96604	3.85	0.80722	D	1	B;B	0.19073	0.033;0.012	B;B	0.19391	0.015;0.025	D	0.89618	0.3846	10	0.62326	D	0.03	.	14.8426	0.70237	0.0:0.0:1.0:0.0	rs28933406	61;61	P01112-2;P01112	.;RASH_HUMAN	K	61	ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K	ENSP00000309845:Q61K	Q	-	1	0	HRAS	523875	1.000000	0.71417	0.987000	0.45799	0.459000	0.32528	9.476000	0.97823	2.045000	0.60652	0.561000	0.74099	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2		NM_176795		41	42	1	0	5.20837e-25	0.268233	5.91699e-25	41	42		
BRSK2	9024	broad.mit.edu	37	11	1463777	1463777	+	Silent	SNP	C	C	T	rs556280070		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr11:1463777C>T	ENST00000528841.1	+	5	855	c.471C>T	c.(469-471)atC>atT	p.I157I	BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000308230.5_Silent_p.I157I|BRSK2_ENST00000526678.1_Silent_p.I157I|BRSK2_ENST00000528710.1_Silent_p.I97I|BRSK2_ENST00000382179.1_Silent_p.I203I|BRSK2_ENST00000308219.9_Silent_p.I157I|BRSK2_ENST00000531197.1_Silent_p.I157I			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		ACATCCGCATCGCAGACTTTG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		21007	0.001		0.0	False		,,,				2504	0.0					uc001lti.2		NaN																	0					0						c.(469-471)ATC>ATT		BR serine/threonine kinase 2							102.0	111.0	108.0					11																	1463777		2195	4295	6490	SO:0001819	synonymous_variant	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1463777C>T	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.471C>T	11.37:g.1463777C>T						BRSK2_uc009ycv.1_Silent_p.I157I|BRSK2_uc001lth.1_Silent_p.I157I|BRSK2_uc001ltj.2_Silent_p.I157I|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Silent_p.I157I|BRSK2_uc001ltm.2_Silent_p.I203I|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA	p.I157I	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	5	857	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	157			Protein kinase.		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	ENST00000528841.1	37	c.471C>T	CCDS58107.1																																																																																				0.622	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1		NM_003957		19	9	0	0	0	0.204396	0	19	9		
OR56B4	196335	broad.mit.edu	37	11	6129922	6129922	+	Missense_Mutation	SNP	T	T	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr11:6129922T>A	ENST00000316529.3	+	1	1009	c.914T>A	c.(913-915)cTg>cAg	p.L305Q	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACTCAGACTGGGCTTTCAG	0.488																																						uc010qzx.1		NaN																	0				central_nervous_system(1)	1						c.(913-915)CTG>CAG		olfactory receptor, family 56, subfamily B,							88.0	91.0	90.0					11																	6129922		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129922T>A	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.914T>A	11.37:g.6129922T>A	ENSP00000321196:p.Leu305Gln						p.L305Q	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	914	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	305			Cytoplasmic (Potential).		Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.914T>A	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	T	0.186	-1.057708	0.01965	.	.	ENSG00000180919	ENST00000316529	T	0.35605	1.3	4.01	1.55	0.23275	.	0.316280	0.17396	U	0.175754	T	0.16085	0.0387	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.14811	-1.0459	10	0.52906	T	0.07	.	4.4599	0.11661	0.2985:0.0912:0.0:0.6103	.	305	Q8NH76	O56B4_HUMAN	Q	305	ENSP00000321196:L305Q	ENSP00000321196:L305Q	L	+	2	0	OR56B4	6086498	0.000000	0.05858	0.076000	0.20297	0.285000	0.27093	-0.277000	0.08502	0.191000	0.20236	0.449000	0.29647	CTG		0.488	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1		NM_001005181		57	51	0	0	0	0.139131	0	57	51		
PC	5091	broad.mit.edu	37	11	66636412	66636412	+	Silent	SNP	G	G	C	rs373717650		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr11:66636412G>C	ENST00000393958.2	-	9	1020	c.927C>G	c.(925-927)acC>acG	p.T309T	PC_ENST00000355677.3_Silent_p.T309T|PC_ENST00000393960.1_Silent_p.T309T|PC_ENST00000393955.2_Silent_p.T309T|PC_ENST00000524491.1_Silent_p.T269T	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	309	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGAACTCCACGGTGCCTGCGT	0.637																																						uc001ojn.1		NaN																	0				ovary(2)|lung(1)|kidney(1)	4						c.(925-927)ACC>ACG		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						87.0	77.0	80.0					11																	66636412		2200	4295	6495	SO:0001819	synonymous_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66636412G>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.927C>G	11.37:g.66636412G>C						PC_uc001ojo.1_Silent_p.T309T|PC_uc001ojp.1_Silent_p.T309T	p.T309T	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	8	976	-		Melanoma(852;0.0525)	309			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	c.927C>G	CCDS8152.1																																																																																				0.637	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1		NM_001040716		17	49	0	0	0	0.219247	0	17	49		
KBTBD3	143879	broad.mit.edu	37	11	105923955	105923955	+	Silent	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr11:105923955A>G	ENST00000526793.1	-	3	1620	c.1461T>C	c.(1459-1461)tcT>tcC	p.S487S	KBTBD3_ENST00000534815.1_Silent_p.S408S|KBTBD3_ENST00000531837.1_Silent_p.S487S	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	483										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CTACTAGTTCAGACCACTGAT	0.348																																						uc001pja.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1459-1461)TCT>TCC		BTB and kelch domain containing 3							61.0	60.0	60.0					11																	105923955		2200	4296	6496	SO:0001819	synonymous_variant	143879							g.chr11:105923955A>G	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1461T>C	11.37:g.105923955A>G						KBTBD3_uc001pjb.2_Silent_p.S487S|KBTBD3_uc009yxm.2_Silent_p.S408S	p.S487S	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	4	2101	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	483			Kelch 4.		Q6N066|Q86X38|Q96NK5	Silent	SNP	ENST00000526793.1	37	c.1461T>C	CCDS8334.1																																																																																				0.348	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2		NM_152433		21	8	0	0	0	0.204396	0	21	8		
ATM	472	broad.mit.edu	37	11	108115703	108115703	+	Missense_Mutation	SNP	A	A	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr11:108115703A>C	ENST00000452508.2	+	8	1040	c.851A>C	c.(850-852)cAa>cCa	p.Q284P	ATM_ENST00000278616.4_Missense_Mutation_p.Q284P			Q13315	ATM_HUMAN	ATM serine/threonine kinase	284					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAATTATTTCAACTGCAAATT	0.308			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(850-852)CAA>CCA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							50.0	52.0	51.0					11																	108115703		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108115703A>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.851A>C	11.37:g.108115703A>C	ENSP00000388058:p.Gln284Pro	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.Q284P	p.Q284P	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	7	1236	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	284					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.851A>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.126840	0.37533	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.67865	-0.29;-0.29;-0.29	5.14	5.14	0.70334	Armadillo-type fold (1);	0.424743	0.24559	N	0.037498	T	0.53433	0.1796	L	0.56769	1.78	0.30924	N	0.727693	P	0.39216	0.664	B	0.30943	0.122	T	0.63042	-0.6725	10	0.42905	T	0.14	.	4.6507	0.12594	0.7067:0.0:0.1475:0.1457	.	284	Q13315	ATM_HUMAN	P	284	ENSP00000435747:Q284P;ENSP00000278616:Q284P;ENSP00000388058:Q284P	ENSP00000278616:Q284P	Q	+	2	0	ATM	107620913	1.000000	0.71417	0.967000	0.41034	0.993000	0.82548	3.387000	0.52501	2.076000	0.62316	0.528000	0.53228	CAA		0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		22	20	0	0	0	0.234183	0	22	20		
LRTM2	654429	broad.mit.edu	37	12	1940432	1940432	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:1940432G>A	ENST00000543818.1	+	4	1241	c.399G>A	c.(397-399)agG>agA	p.R133R	CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Silent_p.R133R|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Silent_p.R133R	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	133						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCCTGGACAGGGACCTGCTGC	0.637											OREG0005740	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CACNA2D4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc001qjt.2		NaN																	0				large_intestine(1)	1						c.(397-399)AGG>AGA		leucine-rich repeats and transmembrane domains 2							47.0	53.0	51.0					12																	1940432		2203	4300	6503	SO:0001819	synonymous_variant	654429					integral to membrane		g.chr12:1940432G>A	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.399G>A	12.37:g.1940432G>A			OREG0005740	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CACNA2D4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	599	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Silent_p.R133R|LRTM2_uc010sdx.1_Silent_p.R133R|LRTM2_uc001qjv.2_Intron	p.R133R	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		4	1205	+	Ovarian(42;0.107)		133			Extracellular (Potential).|LRR 3.		A7E2U6	Silent	SNP	ENST00000543818.1	37	c.399G>A	CCDS31726.1																																																																																				0.637	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1				12	61	0	0	0	0.09319	0	12	61		
KCNA1	3736	broad.mit.edu	37	12	5020962	5020962	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:5020962G>T	ENST00000382545.3	+	2	1525	c.418G>T	c.(418-420)Gag>Tag	p.E140*	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	140					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CATCAAGGAGGAGGAGCGCCC	0.627																																						uc001qnh.2		NaN																	0				ovary(1)|skin(1)	2						c.(418-420)GAG>TAG		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						67.0	71.0	69.0					12																	5020962		2203	4300	6503	SO:0001587	stop_gained	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5020962G>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.418G>T	12.37:g.5020962G>T	ENSP00000371985:p.Glu140*						p.E140*	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	1523	+			140					A6NM83|Q3MIQ9	Nonsense_Mutation	SNP	ENST00000382545.3	37	c.418G>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	46	12.872682	0.99702	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	.	.	.	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	16.4094	0.83703	0.0:0.0:1.0:0.0	.	.	.	.	X	140	.	ENSP00000228858:E140X	E	+	1	0	KCNA1	4891223	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.531000	0.98054	2.415000	0.81967	0.655000	0.94253	GAG		0.627	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2		NM_000217		18	45	1	0	7.05477e-17	0.160694	7.90702e-17	18	45		
PIK3C2G	5288	broad.mit.edu	37	12	18644430	18644430	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:18644430G>A	ENST00000266497.5	+	18	2646	c.2608G>A	c.(2608-2610)Gat>Aat	p.D870N	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.D911N|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.D870N			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	870					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTTCTTTCAAGATGTAAATAC	0.333																																						uc001rdt.2		NaN																	0				lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(2608-2610)GAT>AAT		phosphoinositide-3-kinase, class 2 gamma							108.0	103.0	105.0					12																	18644430		1838	4071	5909	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18644430G>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2608G>A	12.37:g.18644430G>A	ENSP00000266497:p.Asp870Asn					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.D911N|PIK3C2G_uc010sic.1_Missense_Mutation_p.D689N	p.D870N	NM_004570	NP_004561	O75747	P3C2G_HUMAN			19	2724	+		Hepatocellular(102;0.194)	870					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.2608G>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	9.110	1.006206	0.19199	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.80738	-1.41;-1.41;-1.41	5.2	2.23	0.28157	Protein kinase-like domain (1);	3.059360	0.00674	N	0.000645	T	0.71929	0.3398	L	0.35854	1.095	0.09310	N	0.999994	B;B;B	0.20459	0.026;0.045;0.026	B;B;B	0.23419	0.021;0.046;0.021	T	0.50136	-0.8863	10	0.16896	T	0.51	0.3107	4.0847	0.09942	0.0884:0.1254:0.5839:0.2023	.	910;911;870	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	N	870;870;911	ENSP00000404845:D870N;ENSP00000266497:D870N;ENSP00000445381:D911N	ENSP00000266497:D870N	D	+	1	0	PIK3C2G	18535697	0.321000	0.24625	0.258000	0.24420	0.857000	0.48899	0.980000	0.29513	0.339000	0.23719	0.655000	0.94253	GAT		0.333	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1		NM_004570		12	59	0	0	0	0.11911	0	12	59		
COL2A1	1280	broad.mit.edu	37	12	48375154	48375154	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:48375154G>A	ENST00000380518.3	-	37	2599	c.2435C>T	c.(2434-2436)gCa>gTa	p.A812V	COL2A1_ENST00000337299.6_Missense_Mutation_p.A743V|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	812	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGCACTTCCTGCAGGACCAGG	0.637																																						uc001rqu.2		NaN																	0				ovary(1)|skin(1)	2						c.(2434-2436)GCA>GTA		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						28.0	30.0	29.0					12																	48375154		2201	4300	6501	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48375154G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.2435C>T	12.37:g.48375154G>A	ENSP00000369889:p.Ala812Val					COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.A743V	p.A812V	NM_001844	NP_001835	P02458	CO2A1_HUMAN			37	2616	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	812			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.2435C>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698490	0.48307	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93488	-3.22;-3.23	5.28	5.28	0.74379	.	0.489226	0.20015	N	0.101037	D	0.89444	0.6717	L	0.42744	1.35	0.24320	N	0.995047	B;B	0.06786	0.001;0.001	B;B	0.15052	0.007;0.012	T	0.70223	-0.4931	10	0.02654	T	1	.	18.515	0.90933	0.0:0.0:1.0:0.0	.	743;812	P02458-1;P02458	.;CO2A1_HUMAN	V	812;743;743	ENSP00000369889:A812V;ENSP00000338213:A743V	ENSP00000338213:A743V	A	-	2	0	COL2A1	46661421	0.170000	0.23016	0.048000	0.18961	0.919000	0.55068	2.814000	0.48010	2.470000	0.83445	0.655000	0.94253	GCA		0.637	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2		NM_001844		4	9	0	0	0	0.184627	0	4	9		
RARG	5916	broad.mit.edu	37	12	53607337	53607337	+	Missense_Mutation	SNP	G	G	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:53607337G>C	ENST00000425354.2	-	8	1448	c.961C>G	c.(961-963)Ctg>Gtg	p.L321V	RARG_ENST00000394426.1_Missense_Mutation_p.L321V|RARG_ENST00000338561.5_Missense_Mutation_p.L310V|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.L249V|RARG_ENST00000543726.1_Missense_Mutation_p.L299V	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	321	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCCATCTCCAGGGGCAGGAGC	0.652											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sce.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(961-963)CTG>GTG		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						57.0	54.0	55.0					12																	53607337		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607337G>C	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.961C>G	12.37:g.53607337G>C	ENSP00000388510:p.Leu321Val		OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_uc001scd.2_Missense_Mutation_p.L310V|RARG_uc010sob.1_Missense_Mutation_p.L299V|RARG_uc001scf.2_Missense_Mutation_p.L321V|RARG_uc001scg.2_Missense_Mutation_p.L249V|RARG_uc010soc.1_Missense_Mutation_p.L200V|RARG_uc010sod.1_Missense_Mutation_p.L358V	p.L321V	NM_000966	NP_000957	P13631	RARG_HUMAN			8	1446	-			321			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.961C>G	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611518	0.66558	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	5.1	4.19	0.49359	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	D	0.000002	T	0.81635	0.4864	M	0.92317	3.295	0.54753	D	0.999984	P;D;D;P	0.76494	0.832;0.981;0.999;0.661	P;D;D;P	0.83275	0.736;0.988;0.996;0.64	D	0.84119	0.0405	10	0.87932	D	0	.	9.6177	0.39701	0.1667:0.0:0.8333:0.0	.	358;299;321;310	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	V	321;321;83;249;310;299;358	ENSP00000388510:L321V;ENSP00000377947:L321V;ENSP00000332695:L249V;ENSP00000343698:L310V;ENSP00000444335:L299V	ENSP00000332695:L249V	L	-	1	2	RARG	51893604	0.998000	0.40836	0.948000	0.38648	0.991000	0.79684	2.522000	0.45572	1.248000	0.43934	0.467000	0.42956	CTG		0.652	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		NM_000966		13	29	0	0	0	0.09319	0	13	29		
LTA4H	4048	broad.mit.edu	37	12	96394858	96394858	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:96394858T>C	ENST00000228740.2	-	19	1886	c.1745A>G	c.(1744-1746)cAt>cGt	p.H582R	LTA4H_ENST00000552789.1_Missense_Mutation_p.H558R|RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000413268.2_3'UTR	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	582					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	AGCTTGATCATGGGATTTGTC	0.468																																						uc001ten.1		NaN																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(1744-1746)CAT>CGT		leukotriene A4 hydrolase							125.0	115.0	119.0					12																	96394858		2203	4300	6503	SO:0001583	missense	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96394858T>C	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1745A>G	12.37:g.96394858T>C	ENSP00000228740:p.His582Arg					LTA4H_uc010suy.1_Missense_Mutation_p.H544R|LTA4H_uc010suz.1_3'UTR	p.H582R	NM_000895	NP_000886	P09960	LKHA4_HUMAN			19	1813	-			582					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	c.1745A>G	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	T	2.229	-0.376668	0.05000	.	.	ENSG00000111144	ENST00000228740;ENST00000552789	T;T	0.37058	1.22;1.22	5.83	-4.25	0.03766	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.413894	0.28376	N	0.015578	T	0.04770	0.0129	N	0.00060	-2.34	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48864	-0.8997	10	0.02654	T	1	-11.6526	10.1714	0.42913	0.139:0.663:0.0:0.198	.	558;582	F8VV40;P09960	.;LKHA4_HUMAN	R	582;558	ENSP00000228740:H582R;ENSP00000449958:H558R	ENSP00000228740:H582R	H	-	2	0	LTA4H	94918989	0.299000	0.24426	0.031000	0.17742	0.862000	0.49288	0.810000	0.27183	-0.314000	0.08716	0.402000	0.26972	CAT		0.468	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1		NM_000895		9	50	0	0	0	0.058154	0	9	50		
B3GNT4	79369	broad.mit.edu	37	12	122689184	122689184	+	Missense_Mutation	SNP	T	T	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:122689184T>G	ENST00000324189.4	+	2	375	c.19T>G	c.(19-21)Tcc>Gcc	p.S7A	B3GNT4_ENST00000535274.1_5'UTR|B3GNT4_ENST00000546192.1_Intron|B3GNT4_ENST00000545141.1_Intron	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	7					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		TCCCCAGCCTTCCGCAGCCCA	0.652																																						uc001ubx.2		NaN																	0				ovary(1)	1						c.(19-21)TCC>GCC		UDP-GlcNAc:betaGal							43.0	43.0	43.0					12																	122689184		2202	4300	6502	SO:0001583	missense	79369				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr12:122689184T>G	AB049586	CCDS9227.1	12q24	2013-02-19						"""Beta 3-glycosyltransferases"""	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.19T>G	12.37:g.122689184T>G	ENSP00000319636:p.Ser7Ala					B3GNT4_uc001uby.2_Intron	p.S7A	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)	2	237	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		7			Cytoplasmic (Potential).		Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Missense_Mutation	SNP	ENST00000324189.4	37	c.19T>G	CCDS9227.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.286988	0.23478	.	.	ENSG00000176383	ENST00000324189	T	0.33865	1.39	1.37	0.163	0.14986	.	1.004320	0.08033	U	0.993812	T	0.20901	0.0503	N	0.19112	0.55	0.19575	N	0.999966	B	0.10296	0.003	B	0.04013	0.001	T	0.26155	-1.0111	10	0.51188	T	0.08	.	3.2765	0.06901	0.0:0.2466:0.0:0.7534	.	7	Q9C0J1	B3GN4_HUMAN	A	7	ENSP00000319636:S7A	ENSP00000319636:S7A	S	+	1	0	B3GNT4	121255137	0.000000	0.05858	0.001000	0.08648	0.489000	0.33432	0.173000	0.16724	0.031000	0.15407	0.260000	0.18958	TCC		0.652	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1		NM_030765		7	26	0	0	0	0.038147	0	7	26		
GPR133	283383	broad.mit.edu	37	12	131476886	131476886	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr12:131476886C>T	ENST00000261654.5	+	8	1474	c.915C>T	c.(913-915)ctC>ctT	p.L305L	GPR133_ENST00000535015.1_Silent_p.L337L|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	305					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATGTATCCCTCAGCTTACCCA	0.502																																						uc001uit.3		NaN																	0				pancreas(5)|ovary(3)|skin(2)	10						c.(913-915)CTC>CTT		G protein-coupled receptor 133 precursor							151.0	147.0	148.0					12																	131476886		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131476886C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.915C>T	12.37:g.131476886C>T						GPR133_uc010tbm.1_Silent_p.L337L	p.L305L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	8	1474	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		305			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.915C>T	CCDS9272.1																																																																																				0.502	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1		NM_198827		30	86	0	0	0	0.116897	0	30	86		
MIPEP	4285	broad.mit.edu	37	13	24304530	24304530	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr13:24304530T>C	ENST00000382172.3	-	19	2197	c.2099A>G	c.(2098-2100)gAc>gGc	p.D700G		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	700					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CAGATCCAAGTCGGAAACGAG	0.413																																						uc001uox.3		NaN																	0				central_nervous_system(1)	1						c.(2098-2100)GAC>GGC		mitochondrial intermediate peptidase precursor							105.0	90.0	95.0					13																	24304530		2203	4300	6503	SO:0001583	missense	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24304530T>C		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.2099A>G	13.37:g.24304530T>C	ENSP00000371607:p.Asp700Gly						p.D700G	NM_005932	NP_005923	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	19	2199	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	700					Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	c.2099A>G	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.935700	0.73442	.	.	ENSG00000027001	ENST00000382172	T	0.10960	2.82	5.42	5.42	0.78866	.	0.095859	0.64402	D	0.000001	T	0.21881	0.0527	M	0.78637	2.42	0.48901	D	0.999721	P	0.35527	0.507	B	0.41440	0.357	T	0.01330	-1.1383	10	0.87932	D	0	.	14.4445	0.67340	0.0:0.0:0.0:1.0	.	700	Q99797	MIPEP_HUMAN	G	700	ENSP00000371607:D700G	ENSP00000371607:D700G	D	-	2	0	MIPEP	23202530	1.000000	0.71417	0.989000	0.46669	0.879000	0.50718	6.287000	0.72671	2.055000	0.61198	0.533000	0.62120	GAC		0.413	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1				21	11	0	0	0	0.219247	0	21	11		
BRCA2	675	broad.mit.edu	37	13	32900694	32900694	+	Missense_Mutation	SNP	T	T	C	rs80358805		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr13:32900694T>C	ENST00000380152.3	+	7	808	c.575T>C	c.(574-576)aTg>aCg	p.M192T	BRCA2_ENST00000544455.1_Missense_Mutation_p.M192T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	192			M -> T (in one patient with pancreatic cancer). {ECO:0000269|PubMed:12097290}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GATCCTGATATGTCTTGGTCA	0.393			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64	GRCh37	CM021250	BRCA2	M	rs80358805	c.(574-576)ATG>ACG	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							119.0	117.0	118.0					13																	32900694		2203	4300	6503	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32900694T>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.575T>C	13.37:g.32900694T>C	ENSP00000369497:p.Met192Thr	TCGA Ovarian(8;0.087)				BRCA2_uc001uua.1_Missense_Mutation_p.M69T	p.M192T	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	7	802	+		Lung SC(185;0.0262)	192		M -> T (in one patient with pancreatic cancer).			O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.575T>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978049	0.74360	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.01221	5.15;5.15	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.07773	0.0195	M	0.65498	2.005	0.40835	D	0.983628	D;P	0.89917	1.0;0.664	D;B	0.85130	0.997;0.164	T	0.03534	-1.1027	10	0.66056	D	0.02	.	15.5	0.75691	0.0:0.0:0.0:1.0	.	192;192	P51587;A1YBP1	BRCA2_HUMAN;.	T	192;192;190	ENSP00000369497:M192T;ENSP00000439902:M192T	ENSP00000369497:M192T	M	+	2	0	BRCA2	31798694	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.035000	0.70940	2.063000	0.61619	0.379000	0.24179	ATG		0.393	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		45	37	0	0	0	0.139131	0	45	37		
LPAR6	10161	broad.mit.edu	37	13	48985612	48985612	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr13:48985612G>A	ENST00000378434.4	-	7	2572	c.948C>T	c.(946-948)ttC>ttT	p.F316F	LPAR6_ENST00000345941.2_Silent_p.F316F|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						GAACTTCAGAGAATCTGAAGT	0.338																																						uc010acu.2		NaN																	19	Whole gene deletion(15)|Unknown(4)	p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	ovary(4)	4						c.(946-948)TTC>TTT		G-protein coupled purinergic receptor P2Y5							77.0	82.0	80.0					13																	48985612		2203	4300	6503	SO:0001819	synonymous_variant	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48985612G>A	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.948C>T	13.37:g.48985612G>A						RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Silent_p.F316F|LPAR6_uc001vcf.2_Silent_p.F316F	p.F316F	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN			1	2042	-			316			Cytoplasmic (Potential).		A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Silent	SNP	ENST00000378434.4	37	c.948C>T	CCDS9410.1																																																																																				0.338	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2		NM_005767		24	87	0	0	0	0.26419	0	24	87		
MLNR	2862	broad.mit.edu	37	13	49795318	49795318	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr13:49795318G>A	ENST00000218721.1	+	1	845	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	MLNR_ENST00000398307.1_Missense_Mutation_p.R282Q	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	282					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGGCCGCTGCGAGGCCCGGCC	0.701																																						uc010tgj.1		NaN																	0					0						c.(844-846)CGA>CAA		motilin receptor							8.0	10.0	9.0					13																	49795318		2005	3891	5896	SO:0001583	missense	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49795318G>A	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.845G>A	13.37:g.49795318G>A	ENSP00000218721:p.Arg282Gln						p.R282Q	NM_001507	NP_001498	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	1	845	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	282			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000218721.1	37	c.845G>A	CCDS9414.1	.	.	.	.	.	.	.	.	.	.	G	2.534	-0.307827	0.05458	.	.	ENSG00000102539	ENST00000218721;ENST00000398307	T;T	0.37915	1.17;1.17	3.36	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.692070	0.13495	N	0.383739	T	0.15782	0.0380	N	0.25286	0.73	0.18873	N	0.999987	P	0.40398	0.716	B	0.25405	0.06	T	0.15838	-1.0423	10	0.13853	T	0.58	0.4047	7.878	0.29605	0.2091:0.0:0.7909:0.0	.	282	O43193	MTLR_HUMAN	Q	282	ENSP00000218721:R282Q;ENSP00000381352:R282Q	ENSP00000218721:R282Q	R	+	2	0	MLNR	48693319	0.000000	0.05858	0.175000	0.22980	0.163000	0.22366	0.281000	0.18810	0.144000	0.18951	0.462000	0.41574	CGA		0.701	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1		NM_001507		20	4	0	0	0	0.204396	0	20	4		
MYCBP2	23077	broad.mit.edu	37	13	77750673	77750673	+	Missense_Mutation	SNP	C	C	T	rs374987058		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr13:77750673C>T	ENST00000544440.2	-	36	5334	c.5317G>A	c.(5317-5319)Gat>Aat	p.D1773N	MYCBP2_ENST00000357337.6_Missense_Mutation_p.D1773N|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D1811N|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCAGCTATATCACTGGGTGAG	0.363																																						uc001vkf.2		NaN																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(5317-5319)GAT>AAT		MYC binding protein 2		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	157.0	134.0	142.0		5431	5.5	1.0	13		142	0,8600		0,0,4300	no	missense	MYCBP2	NM_015057.4	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1811/4679	77750673	1,13005	2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77750673C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.5317G>A	13.37:g.77750673C>T	ENSP00000444596:p.Asp1773Asn					MYCBP2_uc010aev.2_Missense_Mutation_p.D1177N	p.D1773N	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	37	5408	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1773						Missense_Mutation	SNP	ENST00000544440.2	37	c.5317G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.627821	0.96671	2.27E-4	0.0	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.32023	1.48;1.47;1.48	5.53	5.53	0.82687	PHR (1);	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	L	0.38692	1.165	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.46803	-0.9165	10	0.72032	D	0.01	.	19.0877	0.93212	0.0:1.0:0.0:0.0	.	1773	O75592	MYCB2_HUMAN	N	1773;1811;1773	ENSP00000349892:D1773N;ENSP00000384288:D1811N;ENSP00000444596:D1773N	ENSP00000349892:D1773N	D	-	1	0	MYCBP2	76648674	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.818000	0.86416	2.593000	0.87608	0.655000	0.94253	GAT		0.363	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057		6	24	0	0	0	0.248553	0	6	24		
TMEM255B	348013	broad.mit.edu	37	13	114514838	114514838	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr13:114514838T>C	ENST00000375353.3	+	9	970	c.943T>C	c.(943-945)Ttt>Ctt	p.F315L	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	315	Pro-rich.					integral component of membrane (GO:0016021)											ACCCACCTACTTTCCCCCGGG	0.567																																						uc001vuh.2		NaN																	0					0						c.(943-945)TTT>CTT		family with sequence similarity 70, member B							59.0	77.0	71.0					13																	114514838		2203	4298	6501	SO:0001583	missense	348013					integral to membrane		g.chr13:114514838T>C	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.943T>C	13.37:g.114514838T>C	ENSP00000364502:p.Phe315Leu						p.F315L	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	all cancers(43;0.181)		9	970	+	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	315			Pro-rich.			Missense_Mutation	SNP	ENST00000375353.3	37	c.943T>C	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	T	9.169	1.020553	0.19433	.	.	ENSG00000184497	ENST00000375353	T	0.48836	0.8	4.72	2.26	0.28386	.	.	.	.	.	T	0.35335	0.0928	L	0.43152	1.355	0.30636	N	0.75699	B	0.17268	0.021	B	0.16722	0.016	T	0.32666	-0.9898	9	0.20046	T	0.44	-27.4097	7.1162	0.25418	0.0:0.268:0.0:0.732	.	315	Q8WV15	FA70B_HUMAN	L	315	ENSP00000364502:F315L	ENSP00000364502:F315L	F	+	1	0	FAM70B	113599105	0.015000	0.18098	0.243000	0.24186	0.003000	0.03518	0.353000	0.20130	0.195000	0.20347	-0.353000	0.07706	TTT		0.567	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4		NM_182614		18	75	0	0	0	0.204396	0	18	75		
TC2N	123036	broad.mit.edu	37	14	92278710	92278710	+	Missense_Mutation	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr14:92278710A>G	ENST00000435962.2	-	3	570	c.247T>C	c.(247-249)Tct>Cct	p.S83P	TC2N_ENST00000556018.1_Missense_Mutation_p.S83P|TC2N_ENST00000340892.5_Missense_Mutation_p.S83P|TC2N_ENST00000360594.5_Missense_Mutation_p.S83P	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	83					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TGAATGTAAGATAACTTAAAC	0.363																																						uc001xzu.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(247-249)TCT>CCT		tandem C2 domains, nuclear							122.0	109.0	113.0					14																	92278710		2203	4300	6503	SO:0001583	missense	123036					nucleus		g.chr14:92278710A>G	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.247T>C	14.37:g.92278710A>G	ENSP00000387882:p.Ser83Pro					TC2N_uc001xzt.3_Missense_Mutation_p.S83P|TC2N_uc010auc.2_Missense_Mutation_p.S83P|TC2N_uc001xzv.3_Missense_Mutation_p.S83P	p.S83P	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	3	438	-			83						Missense_Mutation	SNP	ENST00000435962.2	37	c.247T>C	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	A	18.57	3.653019	0.67472	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018	T;T;T;T	0.19105	3.12;3.12;3.12;2.17	5.4	4.19	0.49359	.	0.158905	0.64402	D	0.000020	T	0.35624	0.0938	L	0.59436	1.845	0.48762	D	0.999702	D;P	0.61080	0.989;0.747	P;B	0.58266	0.836;0.373	T	0.12785	-1.0534	10	0.72032	D	0.01	-15.7277	11.7144	0.51643	0.7654:0.2346:0.0:0.0	.	83;83	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	P	83	ENSP00000387882:S83P;ENSP00000343199:S83P;ENSP00000353802:S83P;ENSP00000451317:S83P	ENSP00000343199:S83P	S	-	1	0	TC2N	91348463	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.085000	0.41634	2.057000	0.61298	0.533000	0.62120	TCT		0.363	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1		NM_152332		14	19	0	0	0	0.11911	0	14	19		
CDC42BPB	9578	broad.mit.edu	37	14	103440459	103440459	+	Missense_Mutation	SNP	T	T	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr14:103440459T>G	ENST00000361246.2	-	12	1823	c.1535A>C	c.(1534-1536)gAg>gCg	p.E512A		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CACTGTGTCCTCAAGCTGTCG	0.532																																						uc001ymi.1		NaN																	0				large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(1534-1536)GAG>GCG		CDC42-binding protein kinase beta							53.0	51.0	52.0					14																	103440459		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103440459T>G	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1535A>C	14.37:g.103440459T>G	ENSP00000355237:p.Glu512Ala						p.E512A	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	12	1767	-		Melanoma(154;0.155)	512			Potential.			Missense_Mutation	SNP	ENST00000361246.2	37	c.1535A>C	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550339	0.45383	.	.	ENSG00000198752	ENST00000361246	T	0.69435	-0.4	5.45	5.45	0.79879	.	0.045089	0.85682	D	0.000000	T	0.60353	0.2262	L	0.46741	1.465	0.58432	D	0.999997	B	0.06786	0.001	B	0.10450	0.005	T	0.59434	-0.7455	10	0.62326	D	0.03	.	12.3018	0.54878	0.0:0.0:0.151:0.849	.	512	Q9Y5S2	MRCKB_HUMAN	A	512	ENSP00000355237:E512A	ENSP00000355237:E512A	E	-	2	0	CDC42BPB	102510212	1.000000	0.71417	0.979000	0.43373	0.500000	0.33767	5.934000	0.70138	2.071000	0.62044	0.379000	0.24179	GAG		0.532	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1		NM_006035		12	36	0	0	0	0.09319	0	12	36		
TDRD9	122402	broad.mit.edu	37	14	104471727	104471727	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr14:104471727C>T	ENST00000409874.4	+	15	1746	c.1698C>T	c.(1696-1698)atC>atT	p.I566I	TDRD9_ENST00000339063.5_Silent_p.I566I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	566					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGCGCACCATCCTTCTACTAA	0.532																																						uc001yom.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1696-1698)ATC>ATT		tudor domain containing 9							118.0	97.0	104.0					14																	104471727		2203	4300	6503	SO:0001819	synonymous_variant	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104471727C>T	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1698C>T	14.37:g.104471727C>T						TDRD9_uc001yon.3_Silent_p.I304I	p.I566I	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			15	1728	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	566					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Silent	SNP	ENST00000409874.4	37	c.1698C>T	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	C	5.144	0.212087	0.09757	.	.	ENSG00000156414	ENST00000557332	.	.	.	5.77	0.659	0.17861	.	.	.	.	.	T	0.45915	0.1366	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24119	-1.0169	4	.	.	.	.	4.3696	0.11241	0.3526:0.297:0.0:0.3504	.	.	.	.	S	293	.	.	P	+	1	0	TDRD9	103541480	0.909000	0.30893	0.954000	0.39281	0.459000	0.32528	-0.011000	0.12721	0.064000	0.16427	-1.047000	0.02352	CCT		0.532	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3		NM_153046		14	26	0	0	0	0.105934	0	14	26		
MESDC2	23184	broad.mit.edu	37	15	81282111	81282111	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr15:81282111G>A	ENST00000261758.4	-	1	108	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	RP11-775C24.3_ENST00000563737.1_lincRNA	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	8	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						ACGGCCTTGCGCGCCCACCTG	0.716																																						uc002bfy.1		NaN																	0					0						c.(22-24)CGC>TGC		mesoderm development candidate 2							14.0	13.0	13.0					15																	81282111		2188	4274	6462	SO:0001583	missense	23184				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		g.chr15:81282111G>A	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.22C>T	15.37:g.81282111G>A	ENSP00000261758:p.Arg8Cys					MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	p.R8C	NM_015154	NP_055969	Q14696	MESD_HUMAN			1	95	-			8			Chaperone domain (By similarity).		B4DW84|D3DW96|Q969U1	Missense_Mutation	SNP	ENST00000261758.4	37	c.22C>T	CCDS32308.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765194	0.31228	.	.	ENSG00000117899	ENST00000422879;ENST00000261758	.	.	.	4.48	1.58	0.23477	.	0.498534	0.18956	N	0.126557	T	0.21801	0.0525	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.12915	-1.0529	9	0.48119	T	0.1	-14.9473	5.3466	0.16012	0.2704:0.1523:0.5773:0.0	.	8	Q14696	MESD_HUMAN	C	8	.	ENSP00000261758:R8C	R	-	1	0	MESDC2	79069166	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.212000	0.17497	0.619000	0.30197	0.591000	0.81541	CGC		0.716	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2		NM_015154		13	3	0	0	0	0.09319	0	13	3		
KIAA0430	9665	broad.mit.edu	37	16	15705592	15705592	+	Splice_Site	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr16:15705592C>T	ENST00000396368.3	-	18	3681		c.e18-1		CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000540441.2_Splice_Site|KIAA0430_ENST00000548025.1_Splice_Site|KIAA0430_ENST00000551742.1_Splice_Site|KIAA0430_ENST00000344181.3_Splice_Site|KIAA0430_ENST00000602337.1_Splice_Site	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430						double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTCCAAGAATCTGCAAAGCAA	0.488																																						uc002ddr.2		NaN																	0					0						c.e18-1		limkain b1							66.0	64.0	65.0					16																	15705592		1922	4133	6055	SO:0001630	splice_region_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15705592C>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3475-1G>A	16.37:g.15705592C>T						KIAA0430_uc002ddq.2_Splice_Site_p.I993_splice|KIAA0430_uc010uzv.1_Splice_Site_p.I1155_splice|KIAA0430_uc010uzw.1_Splice_Site_p.I1158_splice	p.I1159_splice	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			18	3668	-								A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Splice_Site	SNP	ENST00000396368.3	37	c.3475_splice	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952510	0.92660	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0854	0.93201	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0430	15613093	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.864000	0.75494	2.770000	0.95276	0.643000	0.83706	.		0.488	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2		NM_014647	Intron	24	26	0	0	0	0.26419	0	24	26		
SCNN1G	6340	broad.mit.edu	37	16	23224042	23224042	+	Missense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr16:23224042G>T	ENST00000300061.2	+	9	1481	c.1338G>T	c.(1336-1338)gaG>gaT	p.E446D	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	446					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCCAGGAAGAGCTGGGCTGCC	0.587																																						uc002dlm.1		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1336-1338)GAG>GAT		sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)						100.0	92.0	95.0					16																	23224042		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23224042G>T	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1338G>T	16.37:g.23224042G>T	ENSP00000300061:p.Glu446Asp						p.E446D	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	9	1477	+			446			Extracellular (By similarity).		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.1338G>T	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716178	0.68844	.	.	ENSG00000166828	ENST00000300061	T	0.64085	-0.08	5.11	3.61	0.41365	.	0.139487	0.49305	D	0.000158	T	0.60170	0.2248	L	0.61387	1.9	0.36100	D	0.844073	P	0.43938	0.822	B	0.43536	0.423	T	0.67872	-0.5558	10	0.51188	T	0.08	-8.5443	9.9649	0.41719	0.1446:0.0:0.8554:0.0	.	446	P51170	SCNNG_HUMAN	D	446	ENSP00000300061:E446D	ENSP00000300061:E446D	E	+	3	2	SCNN1G	23131543	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.627000	0.37050	0.806000	0.34183	0.561000	0.74099	GAG		0.587	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1		NM_001039		18	71	1	0	4.96729e-08	0.204396	5.25024e-08	18	71		
ERN2	10595	broad.mit.edu	37	16	23718361	23718361	+	Missense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr16:23718361G>T	ENST00000457008.2	-	5	384	c.346C>A	c.(346-348)Ccc>Acc	p.P116T	ERN2_ENST00000256797.4_Missense_Mutation_p.P164T					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGCGGCAGGGAGAGGCATGA	0.552																																						uc002dma.3		NaN																	0				large_intestine(2)|lung(2)|ovary(2)	6						c.(490-492)CCC>ACC		endoplasmic reticulum to nucleus signalling 2							85.0	77.0	80.0					16																	23718361		2197	4300	6497	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23718361G>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.346C>A	16.37:g.23718361G>T	ENSP00000413812:p.Pro116Thr					ERN2_uc010bxp.2_Missense_Mutation_p.P164T|ERN2_uc010bxq.1_5'UTR	p.P164T	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	5	659	-			116			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000457008.2	37	c.490C>A		.	.	.	.	.	.	.	.	.	.	G	26.5	4.740618	0.89573	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.19394	2.15;2.15	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.59037	-0.7529	10	0.87932	D	0	.	16.5704	0.84611	0.0:0.0:1.0:0.0	.	116;116	E7ETG2;A5YM65	.;.	T	164;116	ENSP00000256797:P164T;ENSP00000413812:P116T	ENSP00000256797:P164T	P	-	1	0	ERN2	23625862	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	8.480000	0.90434	2.507000	0.84556	0.557000	0.71058	CCC		0.552	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1				13	27	1	0	1.05317e-09	0.11911	1.14207e-09	13	27		
TMEM208	29100	broad.mit.edu	37	16	67262275	67262275	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr16:67262275G>A	ENST00000304800.9	+	3	226	c.120G>A	c.(118-120)gtG>gtA	p.V40V	TMEM208_ENST00000563953.1_5'UTR|LRRC29_ENST00000341546.3_5'Flank|LRRC29_ENST00000409509.1_5'Flank|LRRC29_ENST00000393992.1_5'Flank|AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000462169.1_5'Flank|TMEM208_ENST00000565201.1_Silent_p.V40V	NM_014187.3	NP_054906.2	Q9BTX3	TM208_HUMAN	transmembrane protein 208	40					autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		ACTGCCTTGTGACGTTGGTCT	0.512																																						uc002esi.2		NaN																	0					0						c.(118-120)GTG>GTA		HSPC171 protein							215.0	208.0	210.0					16																	67262275		2022	4193	6215	SO:0001819	synonymous_variant	29100					integral to membrane		g.chr16:67262275G>A		CCDS45511.1	16q22.1	2008-05-02			ENSG00000168701	ENSG00000168701			25015	protein-coding gene	gene with protein product						11042152	Standard	NM_014187		Approved	HSPC171	uc002esi.2	Q9BTX3		ENST00000304800.9:c.120G>A	16.37:g.67262275G>A						LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|TMEM208_uc002esj.2_RNA	p.V40V	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	3	226	+		Ovarian(137;0.0563)	40			Helical; (Potential).		Q05CT0|Q96D25|Q9NZZ7	Silent	SNP	ENST00000304800.9	37	c.120G>A	CCDS45511.1																																																																																				0.512	TMEM208-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421976.2		NM_014187		20	54	0	0	0	0.219247	0	20	54		
ZZEF1	23140	broad.mit.edu	37	17	3936218	3936218	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:3936218G>A	ENST00000381638.2	-	41	6787	c.6663C>T	c.(6661-6663)gtC>gtT	p.V2221V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2221							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGGTGGCAATGACATCACGCC	0.587																																						uc002fxe.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(6661-6663)GTC>GTT		zinc finger, ZZ type with EF hand domain 1							116.0	74.0	88.0					17																	3936218		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3936218G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6663C>T	17.37:g.3936218G>A						ZZEF1_uc002fxh.2_Silent_p.V535V|ZZEF1_uc002fxi.2_Silent_p.V456V	p.V2221V	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			41	6727	-			2221					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.6663C>T	CCDS11043.1																																																																																				0.587	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		7	14	0	0	0	0.248553	0	7	14		
ENO3	2027	broad.mit.edu	37	17	4859385	4859385	+	Missense_Mutation	SNP	C	C	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:4859385C>A	ENST00000323997.6	+	9	1146	c.1014C>A	c.(1012-1014)aaC>aaA	p.N338K	ENO3_ENST00000519584.1_Missense_Mutation_p.N295K|ENO3_ENST00000518175.1_Missense_Mutation_p.N338K	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	338					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						AGGCCTGCAACTGTCTGCTGC	0.597																																						uc002gab.3		NaN																	0				ovary(1)	1						c.(1012-1014)AAC>AAA		enolase 3							103.0	82.0	89.0					17																	4859385		2203	4300	6503	SO:0001583	missense	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4859385C>A	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.1014C>A	17.37:g.4859385C>A	ENSP00000324105:p.Asn338Lys					ENO3_uc002gac.3_Missense_Mutation_p.N338K|ENO3_uc010vss.1_Missense_Mutation_p.N295K|ENO3_uc010vst.1_Missense_Mutation_p.N165K	p.N338K	NM_053013	NP_443739	P13929	ENOB_HUMAN			9	1108	+			338					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	c.1014C>A	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157690	0.78114	.	.	ENSG00000108515	ENST00000323997;ENST00000519584;ENST00000518175	T;T;T	0.61040	0.14;0.14;0.14	5.68	3.66	0.41972	Enolase, C-terminal (1);	0.045428	0.85682	N	0.000000	T	0.75693	0.3884	M	0.90977	3.165	0.80722	D	1	D;P;D	0.63880	0.993;0.648;0.993	P;P;P	0.62560	0.904;0.523;0.904	T	0.77338	-0.2625	10	0.87932	D	0	-21.4331	8.1896	0.31359	0.1575:0.7583:0.0:0.0842	.	338;295;338	P13929;P13929-3;D3DTL2	ENOB_HUMAN;.;.	K	338;295;338	ENSP00000324105:N338K;ENSP00000430636:N295K;ENSP00000431087:N338K	ENSP00000324105:N338K	N	+	3	2	ENO3	4800109	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.740000	0.47418	0.733000	0.32492	-0.534000	0.04291	AAC		0.597	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2				21	54	1	0	2.4624e-09	0.204396	2.63603e-09	21	54		
DNAH2	146754	broad.mit.edu	37	17	7734577	7734577	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:7734577C>T	ENST00000572933.1	+	80	13864	c.12404C>T	c.(12403-12405)tCc>tTc	p.S4135F	DNAH2_ENST00000389173.2_Missense_Mutation_p.S4135F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4135					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTTTGCTTTCCTTGCAACCT	0.572																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(12403-12405)TCC>TTC		dynein heavy chain domain 3							114.0	121.0	119.0					17																	7734577		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7734577C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12404C>T	17.37:g.7734577C>T	ENSP00000458355:p.Ser4135Phe					DNAH2_uc010cnm.1_Missense_Mutation_p.S1073F	p.S4135F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			79	12418	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4135			TPR 5.		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.12404C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601046	0.87055	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.08984	3.03	5.69	5.69	0.88448	Dynein heavy chain (1);	0.062472	0.64402	D	0.000003	T	0.42562	0.1208	H	0.97806	4.08	0.80722	D	1	D;D	0.58620	0.983;0.961	P;P	0.57425	0.82;0.81	T	0.63594	-0.6602	10	0.62326	D	0.03	.	18.576	0.91155	0.0:1.0:0.0:0.0	.	4096;4135	Q9P225-2;Q9P225	.;DYH2_HUMAN	F	4096;4135	ENSP00000373825:S4135F	ENSP00000353818:S4096F	S	+	2	0	DNAH2	7675302	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.227000	0.65305	2.693000	0.91896	0.561000	0.74099	TCC		0.572	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		32	158	0	0	0	0.144211	0	32	158		
MYH10	4628	broad.mit.edu	37	17	8417200	8417200	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:8417200C>T	ENST00000269243.4	-	20	2562	c.2424G>A	c.(2422-2424)aaG>aaA	p.K808K	MYH10_ENST00000396239.1_Silent_p.K829K|MYH10_ENST00000379980.4_Silent_p.K824K|MYH10_ENST00000360416.3_Silent_p.K839K|RNU7-43P_ENST00000516554.1_RNA	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	808	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GCTGCTGCTTCTTGGCAAAGG	0.458																																						uc002gll.2		NaN																	0				ovary(2)	2						c.(2422-2424)AAG>AAA		myosin, heavy polypeptide 10, non-muscle							38.0	34.0	35.0					17																	8417200		2203	4300	6503	SO:0001819	synonymous_variant	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8417200C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2424G>A	17.37:g.8417200C>T						MYH10_uc002glm.2_Silent_p.K839K|MYH10_uc010cnx.2_Silent_p.K817K	p.K808K	NM_005964	NP_005955	P35580	MYH10_HUMAN			20	2520	-			808			IQ.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.2424G>A	CCDS11144.1																																																																																				0.458	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2				22	16	0	0	0	0.219247	0	22	16		
MYH8	4626	broad.mit.edu	37	17	10298707	10298707	+	Missense_Mutation	SNP	T	T	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:10298707T>A	ENST00000403437.2	-	34	4799	c.4705A>T	c.(4705-4707)Aac>Tac	p.N1569Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1569					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGACTTGGTTTAACTCAAGC	0.393									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NaN																	0				skin(6)|ovary(3)|breast(2)	11						c.(4705-4707)AAC>TAC		myosin, heavy chain 8, skeletal muscle,							108.0	93.0	98.0					17																	10298707		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10298707T>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4705A>T	17.37:g.10298707T>A	ENSP00000384330:p.Asn1569Tyr					uc002gml.1_Intron	p.N1569Y	NM_002472	NP_002463	P13535	MYH8_HUMAN			34	4800	-			1569			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4705A>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616078	0.87359	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79454	-1.27	4.85	4.85	0.62838	Myosin tail (1);	0.000000	0.45606	U	0.000359	D	0.87140	0.6103	M	0.87180	2.865	0.58432	D	0.999993	P	0.51791	0.948	P	0.57009	0.811	D	0.89616	0.3845	10	0.72032	D	0.01	.	14.6106	0.68514	0.0:0.0:0.0:1.0	.	1569	P13535	MYH8_HUMAN	Y	1569	ENSP00000384330:N1569Y	ENSP00000252173:N1569Y	N	-	1	0	MYH8	10239432	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.006000	0.57083	2.039000	0.60335	0.528000	0.53228	AAC		0.393	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2		NM_002472		21	64	0	0	0	0.234183	0	21	64		
ITGA2B	3674	broad.mit.edu	37	17	42462976	42462976	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:42462976C>T	ENST00000262407.5	-	4	548	c.517G>A	c.(517-519)Gag>Aag	p.E173K	ITGA2B_ENST00000377068.3_5'Flank|ITGA2B_ENST00000353281.4_Missense_Mutation_p.E173K	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	173					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GGGGAGTACTCGGCGCGGCGG	0.617																																						uc002igt.1		NaN																	0				ovary(2)|lung(1)	3						c.(517-519)GAG>AAG		integrin alpha 2b preproprotein	Tirofiban(DB00775)						18.0	26.0	24.0					17																	42462976		2190	4293	6483	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42462976C>T		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.517G>A	17.37:g.42462976C>T	ENSP00000262407:p.Glu173Lys						p.E173K	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	4	549	-		Prostate(33;0.0181)	173			Extracellular (Potential).|FG-GAP 2.		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.517G>A	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393432	0.83011	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	D;D	0.86562	-2.14;-2.14	5.55	5.55	0.83447	.	0.000000	0.35555	N	0.003134	D	0.94411	0.8202	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95163	0.8283	10	0.87932	D	0	.	14.9926	0.71401	0.0:1.0:0.0:0.0	.	173	P08514	ITA2B_HUMAN	K	173	ENSP00000262407:E173K;ENSP00000340536:E173K	ENSP00000262407:E173K	E	-	1	0	ITGA2B	39818502	0.990000	0.36364	0.951000	0.38953	0.131000	0.20780	2.940000	0.49003	2.601000	0.87937	0.561000	0.74099	GAG		0.617	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1				5	5	0	0	0	0.217242	0	5	5		
DDX5	1655	broad.mit.edu	37	17	62496243	62496243	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:62496243T>C	ENST00000225792.5	-	13	2044	c.1643A>G	c.(1642-1644)aAt>aGt	p.N548S	MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000450599.2_Missense_Mutation_p.N469S|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Missense_Mutation_p.N548S|MIR5047_ENST00000579212.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	548	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGACACAAAATTACTTCCAAA	0.413			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc002jek.2		NaN		Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				ovary(2)|lung(1)	3						c.(1642-1644)AAT>AGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 5							130.0	128.0	128.0					17																	62496243		2203	4300	6503	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62496243T>C	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1643A>G	17.37:g.62496243T>C	ENSP00000225792:p.Asn548Ser					DDX5_uc010deh.2_Missense_Mutation_p.N548S|DDX5_uc002jej.2_Missense_Mutation_p.N443S|DDX5_uc010wqa.1_Missense_Mutation_p.N469S	p.N548S	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		13	1890	-	Breast(5;2.15e-14)		548					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	c.1643A>G	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	T	4.310	0.056911	0.08339	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.95	5.95	0.96441	.	0.624206	0.18549	N	0.137944	T	0.26085	0.0636	N	0.08118	0	0.34362	D	0.691047	B;B;B	0.15473	0.013;0.0;0.0	B;B;B	0.11329	0.006;0.0;0.0	T	0.34775	-0.9815	9	0.23891	T	0.37	-12.0687	8.4243	0.32720	0.0:0.1476:0.0:0.8524	.	469;548;548	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	S	548;478;537	.	ENSP00000225792:N537S	N	-	2	0	DDX5	59926705	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.210000	0.32370	2.288000	0.76882	0.529000	0.55759	AAT		0.413	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1		NM_004396		59	60	0	0	0	0.139131	0	59	60		
RAB37	326624	broad.mit.edu	37	17	72741012	72741012	+	Splice_Site	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr17:72741012G>T	ENST00000392613.5	+	7	489	c.433G>T	c.(433-435)Gcg>Tcg	p.A145S	RAB37_ENST00000392614.4_Splice_Site_p.A150S|RAB37_ENST00000528438.1_Splice_Site_p.A118S|RAB37_ENST00000392615.5_Splice_Site_p.A113S|RAB37_ENST00000402449.4_Splice_Site_p.A138S|RAB37_ENST00000340415.3_Splice_Site_p.A138S|MIR3615_ENST00000585285.1_RNA|RAB37_ENST00000392612.3_Splice_Site_p.A108S|RAB37_ENST00000392610.1_Splice_Site_p.A145S	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	145					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGCTTGACAGGCGGATATGAG	0.617											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jlk.2		NaN																	0				ovary(1)	1						c.(433-435)GCG>TCG		RAB37, member RAS oncogene family isoform 2							104.0	89.0	94.0					17																	72741012		2203	4300	6503	SO:0001630	splice_region_variant	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72741012G>T	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.433-1G>T	17.37:g.72741012G>T			OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1139	RAB37_uc002jlc.2_3'UTR|RAB37_uc010dfu.2_Missense_Mutation_p.A138S|RAB37_uc002jld.2_Missense_Mutation_p.A138S|RAB37_uc010wrb.1_Missense_Mutation_p.A113S|RAB37_uc010wrc.1_Missense_Mutation_p.A150S|RAB37_uc010wrd.1_Missense_Mutation_p.A113S|RAB37_uc010wre.1_Missense_Mutation_p.A108S|RAB37_uc002jll.3_RNA	p.A145S	NM_001006638	NP_001006639	Q96AX2	RAB37_HUMAN			7	489	+			145			GTP (By similarity).		A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.433G>T	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359373	0.41801	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000392612;ENST00000392610	T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.33	5.33	0.75918	Small GTP-binding protein domain (1);	0.281676	0.34314	N	0.004069	T	0.63534	0.2519	N	0.01473	-0.845	0.47009	D	0.999287	P;B;B;B;B;B	0.36354	0.549;0.299;0.167;0.254;0.299;0.08	B;B;B;B;B;B	0.42138	0.377;0.256;0.14;0.23;0.219;0.05	T	0.68379	-0.5424	10	0.29301	T	0.29	.	16.3088	0.82862	0.0:0.0:1.0:0.0	.	108;113;150;138;145;138	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2;A8MSP2	.;.;.;.;RAB37_HUMAN;.	S	138;138;138;118;113;150;145;108;145	ENSP00000341354:A138S;ENSP00000383934:A138S;ENSP00000432086:A118S;ENSP00000376391:A113S;ENSP00000376390:A150S;ENSP00000376389:A145S;ENSP00000376388:A108S;ENSP00000376387:A145S	ENSP00000341354:A138S	A	+	1	0	RAB37	70252607	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	3.337000	0.52120	2.654000	0.90174	0.561000	0.74099	GCG		0.617	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2		NM_175738	Missense_Mutation	20	32	1	0	8.28177e-16	0.189662	9.22037e-16	20	32		
DSC1	1823	broad.mit.edu	37	18	28737511	28737511	+	Silent	SNP	C	C	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr18:28737511C>G	ENST00000257198.5	-	3	435	c.174G>C	c.(172-174)tcG>tcC	p.S58S	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Silent_p.S58S	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	58					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTAGGCTGGCCGACTTGAGAC	0.448																																						uc002kwn.2		NaN																	0				ovary(3)|skin(1)	4						c.(172-174)TCG>TCC		desmocollin 1 isoform Dsc1a preproprotein							88.0	88.0	88.0					18																	28737511		2203	4300	6503	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28737511C>G	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.174G>C	18.37:g.28737511C>G						DSC1_uc002kwm.2_Silent_p.S58S	p.S58S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		3	436	-			58					Q9HB01	Silent	SNP	ENST00000257198.5	37	c.174G>C	CCDS11894.1																																																																																				0.448	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1		NM_004948, NM_024421		14	43	0	0	0	0.11911	0	14	43		
LINGO3	645191	broad.mit.edu	37	19	2290209	2290209	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:2290209C>T	ENST00000585527.1	-	1	1814	c.1567G>A	c.(1567-1569)Gac>Aac	p.D523N	LINGO3_ENST00000404279.1_Missense_Mutation_p.D523N			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	523						integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						GTGGTGAGGTCGAGCGGCGCG	0.716																																						uc010dsx.1		NaN																	0					0						c.(1567-1569)GAC>AAC		leucine rich repeat and Ig domain containing 3							21.0	27.0	25.0					19																	2290209		2045	4188	6233	SO:0001583	missense	645191					integral to membrane		g.chr19:2290209C>T	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"""Immunoglobulin superfamily / I-set domain containing"""	21206	protein-coding gene	gene with protein product		609792	"""leucine rich repeat neuronal 6B"""	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.1567G>A	19.37:g.2290209C>T	ENSP00000467753:p.Asp523Asn					SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR	p.D523N	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN			2	1695	-			523			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000585527.1	37	c.1567G>A	CCDS45905.1	.	.	.	.	.	.	.	.	.	.	c	25.7	4.664919	0.88251	.	.	ENSG00000220008	ENST00000404279	T	0.57595	0.39	4.24	3.19	0.36642	.	.	.	.	.	T	0.65365	0.2684	L	0.58810	1.83	0.54753	D	0.999988	D	0.89917	1.0	D	0.87578	0.998	T	0.63070	-0.6719	9	0.41790	T	0.15	.	11.1087	0.48218	0.0:0.908:0.0:0.092	.	523	P0C6S8	LIGO3_HUMAN	N	523	ENSP00000384979:D523N	ENSP00000384979:D523N	D	-	1	0	LINGO3	2241209	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.676000	0.84012	0.781000	0.33589	0.555000	0.69702	GAC		0.716	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451291.2		NM_001101391		14	11	0	0	0	0.11911	0	14	11		
KHSRP	8570	broad.mit.edu	37	19	6418059	6418059	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:6418059C>T	ENST00000398148.3	-	10	1003	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	304	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTCACGTTCCCGGAGGATGTC	0.642											OREG0025200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(55;593 1006 2067 9135 22980)	uc002mer.3		NaN																	0				skin(1)	1						c.(910-912)CGG>CAG		KH-type splicing regulatory protein							69.0	76.0	74.0					19																	6418059		2154	4249	6403	SO:0001583	missense	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6418059C>T	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.911G>A	19.37:g.6418059C>T	ENSP00000381216:p.Arg304Gln		OREG0025200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	633		p.R304Q	NM_003685	NP_003676	Q92945	FUBP2_HUMAN			10	1021	-			304			Gly-rich.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	c.911G>A	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949587	0.53186	.	.	ENSG00000088247	ENST00000398148;ENST00000201886;ENST00000424942	T	0.44482	0.92	5.11	4.07	0.47477	K Homology (1);	0.117487	0.56097	D	0.000022	T	0.35740	0.0942	L	0.48877	1.53	0.38573	D	0.950001	B	0.27013	0.166	B	0.21546	0.035	T	0.21586	-1.0241	10	0.31617	T	0.26	.	13.8273	0.63359	0.1546:0.8454:0.0:0.0	.	304	Q92945	FUBP2_HUMAN	Q	304;304;260	ENSP00000381216:R304Q	ENSP00000201886:R304Q	R	-	2	0	KHSRP	6369059	1.000000	0.71417	0.701000	0.30321	0.975000	0.68041	5.810000	0.69179	1.124000	0.41980	-0.309000	0.09137	CGG		0.642	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1				5	21	0	0	0	0.184627	0	5	21		
COL5A3	50509	broad.mit.edu	37	19	10099815	10099815	+	Silent	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:10099815T>C	ENST00000264828.3	-	27	2215	c.2130A>G	c.(2128-2130)ggA>ggG	p.G710G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	710	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTCCCCGAGGTCCAGGATAGC	0.542																																						uc002mmq.1		NaN																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(2128-2130)GGA>GGG		collagen, type V, alpha 3 preproprotein							75.0	79.0	78.0					19																	10099815		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10099815T>C	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2130A>G	19.37:g.10099815T>C							p.G710G	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		27	2216	-			710			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.2130A>G	CCDS12222.1																																																																																				0.542	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1		NM_015719		28	50	0	0	0	0.125774	0	28	50		
TSPAN16	26526	broad.mit.edu	37	19	11417292	11417292	+	Missense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:11417292G>T	ENST00000316737.1	+	5	613	c.463G>T	c.(463-465)Ggg>Tgg	p.G155W	TSPAN16_ENST00000590327.1_Missense_Mutation_p.G155W|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.G130W	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	155						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AAAGTGCTGTGGGGTGAATAA	0.438																																						uc002mqv.1		NaN																	0				skin(1)	1						c.(463-465)GGG>TGG		transmembrane 4 superfamily member 16							102.0	93.0	96.0					19																	11417292		2203	4300	6503	SO:0001583	missense	26526					integral to membrane		g.chr19:11417292G>T	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"""Tetraspanins"""	30725	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 16"""	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.463G>T	19.37:g.11417292G>T	ENSP00000319486:p.Gly155Trp					TSPAN16_uc002mqu.1_RNA|uc002mqw.1_Intron	p.G155W	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN			5	613	+			155			Cytoplasmic (Potential).		K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	c.463G>T	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825865	0.50739	.	.	ENSG00000130167	ENST00000316737	D	0.99207	-5.56	3.25	3.25	0.37280	Tetraspanin, EC2 domain (1);	0.562941	0.14991	N	0.286666	D	0.99312	0.9759	M	0.84511	2.7	0.29667	N	0.842764	D	0.89917	1.0	D	0.97110	1.0	D	0.96377	0.9278	10	0.87932	D	0	-10.5796	10.2667	0.43460	0.0:0.0:1.0:0.0	.	155	Q9UKR8	TSN16_HUMAN	W	155	ENSP00000319486:G155W	ENSP00000319486:G155W	G	+	1	0	TSPAN16	11278292	0.951000	0.32395	0.968000	0.41197	0.867000	0.49689	1.746000	0.38288	2.110000	0.64415	0.561000	0.74099	GGG		0.438	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1		NM_012466		25	40	1	0	9.04412e-07	0.099896	9.4398e-07	25	40		
YJEFN3	374887	broad.mit.edu	37	19	19646428	19646428	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:19646428C>T	ENST00000514277.4	+	6	672	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	CILP2_ENST00000291495.5_5'Flank|YJEFN3_ENST00000608404.1_Missense_Mutation_p.R211C|YJEFN3_ENST00000436027.5_Missense_Mutation_p.R162C|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.R211C|CILP2_ENST00000586018.1_5'Flank	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	212	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						CCCCTGCACCCGCGCGCTGGC	0.706																																						uc010xqy.1		NaN																	0					0						c.(880-882)CGC>TGC		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						15.0	17.0	16.0					19																	19646428		1916	4063	5979	SO:0001583	missense	51079				apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr19:19646428C>T		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.634C>T	19.37:g.19646428C>T	ENSP00000426964:p.Arg212Cys					YJEFN3_uc002nmt.1_Missense_Mutation_p.R212C|YJEFN3_uc010ecf.1_Missense_Mutation_p.R162C|YJEFN3_uc002nmu.1_RNA|CILP2_uc002nmv.3_5'Flank|CILP2_uc002nmw.3_5'Flank	p.R294C	NM_015965	NP_057049	Q9P0J0	NDUAD_HUMAN			7	1139	+			Error:Variant_position_missing_in_Q9P0J0_after_alignment					A6XGK9|Q4G1C0	Missense_Mutation	SNP	ENST00000514277.4	37	c.880C>T	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331630	0.60853	.	.	ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000258674	ENST00000553705;ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139;ENST00000555938	T;T;T	0.44881	0.91;0.91;0.91	4.19	3.1	0.35709	YjeF-related protein, N-terminal (5);	0.339613	0.30383	N	0.009753	T	0.49253	0.1546	L	0.43923	1.385	0.32028	N	0.599903	D;D;D	0.76494	0.999;0.994;0.998	D;P;P	0.65874	0.939;0.731;0.892	T	0.56214	-0.8016	10	0.56958	D	0.05	-12.6541	8.208	0.31467	0.4248:0.5751:0.0:0.0	.	211;162;212	E7ENQ6;A6XGL0-2;A6XGL0	.;.;YJEN3_HUMAN	C	211;212;162;212;162;211	ENSP00000398520:R162C;ENSP00000426964:R212C;ENSP00000452549:R211C	ENSP00000389732:R211C	R	+	1	0	YJEFN3;CTC-260F20.3	19507428	0.474000	0.25886	0.311000	0.25182	0.886000	0.51366	1.093000	0.30939	1.887000	0.54652	0.456000	0.33151	CGC		0.706	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5		NM_198537		3	9	0	0	0	0.115264	0	3	9		
TSHZ3	57616	broad.mit.edu	37	19	31768141	31768141	+	Missense_Mutation	SNP	T	T	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:31768141T>A	ENST00000240587.4	-	2	2885	c.2558A>T	c.(2557-2559)aAc>aTc	p.N853I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	853					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTCTGTCAAGTTCTTCAGCAT	0.527																																						uc002nsy.3		NaN																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2557-2559)AAC>ATC		zinc finger protein 537							153.0	144.0	147.0					19																	31768141		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768141T>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2558A>T	19.37:g.31768141T>A	ENSP00000240587:p.Asn853Ile						p.N853I	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2623	-	Esophageal squamous(110;0.226)		853					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2558A>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	18.18	3.566425	0.65651	.	.	ENSG00000121297	ENST00000240587	T	0.13901	2.55	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	L	0.52573	1.65	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.01305	-1.1390	10	0.34782	T	0.22	-45.7467	15.0436	0.71811	0.0:0.0:0.0:1.0	.	853	Q63HK5	TSH3_HUMAN	I	853	ENSP00000240587:N853I	ENSP00000240587:N853I	N	-	2	0	TSHZ3	36459981	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.573000	0.82421	1.943000	0.56356	0.533000	0.62120	AAC		0.527	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2		NM_020856		22	91	0	0	0	0.249174	0	22	91		
KMT2B	9757	broad.mit.edu	37	19	36229445	36229445	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:36229445G>A	ENST00000222270.7	+	37	8135	c.8135G>A	c.(8134-8136)cGg>cAg	p.R2712Q	IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R2712Q	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2712	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CGCTGCCGTCGGTTCCTTAAC	0.652																																						uc010eei.2		NaN																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(8134-8136)CGG>CAG		myeloid/lymphoid or mixed-lineage leukemia 4							38.0	41.0	40.0					19																	36229445		2203	4300	6503	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36229445G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.8135G>A	19.37:g.36229445G>A	ENSP00000222270:p.Arg2712Gln						p.R2712Q	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		38	8135	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		2712			Post-SET.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.8135G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324678	0.41197	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.85629	-2.01;-2.01	5.36	5.36	0.76844	Post-SET domain (2);	0.000000	0.40469	N	0.001093	D	0.86410	0.5926	N	0.17674	0.51	0.40441	D	0.980048	D	0.89917	1.0	D	0.63877	0.919	D	0.88678	0.3200	10	0.62326	D	0.03	.	17.8433	0.88721	0.0:0.0:1.0:0.0	.	2712	Q9UMN6	MLL4_HUMAN	Q	2712	ENSP00000222270:R2712Q;ENSP00000398837:R2712Q	ENSP00000222270:R2712Q	R	+	2	0	AD000671.1	40921285	0.728000	0.28080	0.998000	0.56505	0.988000	0.76386	2.577000	0.46042	2.508000	0.84585	0.462000	0.41574	CGG		0.652	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727		6	8	0	0	0	0.248553	0	6	8		
DPF1	8193	broad.mit.edu	37	19	38709576	38709576	+	Missense_Mutation	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:38709576A>G	ENST00000420980.2	-	4	528	c.502T>C	c.(502-504)Tgt>Cgt	p.C168R	DPF1_ENST00000416611.1_Missense_Mutation_p.C142R|DPF1_ENST00000456296.1_Missense_Mutation_p.C142R|DPF1_ENST00000414789.1_Missense_Mutation_p.C86R|DPF1_ENST00000355526.4_Missense_Mutation_p.C168R|DPF1_ENST00000412732.1_Missense_Mutation_p.C86R	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	168					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCACCTGACAGTCCATAATG	0.657																																						uc002ohl.2		NaN																	0					0						c.(502-504)TGT>CGT		D4, zinc and double PHD fingers family 1 isoform							90.0	90.0	90.0					19																	38709576		2203	4300	6503	SO:0001583	missense	8193				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38709576A>G	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.502T>C	19.37:g.38709576A>G	ENSP00000397354:p.Cys168Arg					DPF1_uc002ohm.2_Missense_Mutation_p.C168R|DPF1_uc002ohn.2_Missense_Mutation_p.C86R|DPF1_uc010xtu.1_Missense_Mutation_p.C142R|DPF1_uc010xtv.1_Missense_Mutation_p.C142R|DPF1_uc010xtw.1_Missense_Mutation_p.C142R	p.C168R	NM_004647	NP_004638	Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		4	529	-	all_cancers(60;1.24e-06)		168					B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	37	c.502T>C	CCDS33008.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.13|12.13	1.846650|1.846650	0.32606|0.32606	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296;ENST00000438060;ENST00000434076;ENST00000438365|ENST00000355526	D;D;D;D;D;T|.	0.89485|.	-2.06;-2.52;-2.04;-2.52;-2.51;2.5|.	3.83|3.83	2.77|2.77	0.32553|0.32553	.|.	0.158205|.	0.41194|.	D|.	0.000933|.	T|T	0.36744|0.36744	0.0978|0.0978	N|N	0.15975|0.15975	0.35|0.35	0.80722|0.80722	D|D	1|1	D;P;B;B;B;P|.	0.65815|.	0.995;0.856;0.002;0.017;0.03;0.61|.	D;B;B;B;B;B|.	0.72982|.	0.979;0.372;0.003;0.009;0.02;0.248|.	T|T	0.06391|0.06391	-1.0829|-1.0829	10|5	0.20519|.	T|.	0.43|.	0.3091|0.3091	9.4139|9.4139	0.38510|0.38510	0.8198:0.1802:0.0:0.0|0.8198:0.1802:0.0:0.0	.|.	142;142;141;168;168;168|.	B4DMQ8;E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782|.	.;.;.;.;.;DPF1_HUMAN|.	R|P	168;168;86;142;86;142;86;142;86|160	ENSP00000397354:C168R;ENSP00000412098:C86R;ENSP00000390223:C142R;ENSP00000391884:C86R;ENSP00000411569:C142R;ENSP00000416347:C86R|.	ENSP00000412098:C86R|.	C|L	-|-	1|2	0|0	DPF1|DPF1	43401416|43401416	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.801000|0.801000	0.45260|0.45260	3.056000|3.056000	0.49923|0.49923	0.597000|0.597000	0.29811|0.29811	0.383000|0.383000	0.25322|0.25322	TGT|CTG		0.657	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1				44	61	0	0	0	0.268233	0	44	61		
ERCC2	2068	broad.mit.edu	37	19	45872380	45872380	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:45872380G>A	ENST00000391945.4	-	3	208	c.131C>T	c.(130-132)tCa>tTa	p.S44L	ERCC2_ENST00000391944.3_Missense_Mutation_p.S44L|ERCC2_ENST00000485403.2_Missense_Mutation_p.S20L|ERCC2_ENST00000221481.6_Missense_Mutation_p.S44L|ERCC2_ENST00000391940.4_Missense_Mutation_p.S20L	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	44	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCCGGTGCCTGAGGGCATCTC	0.587			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(2)|pancreas(1)	3						c.(130-132)TCA>TTA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							148.0	140.0	143.0					19																	45872380		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45872380G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.131C>T	19.37:g.45872380G>A	ENSP00000375809:p.Ser44Leu					ERCC2_uc010ejz.2_Missense_Mutation_p.S44L|ERCC2_uc002pbk.2_Missense_Mutation_p.S20L|ERCC2_uc002pbl.3_Missense_Mutation_p.S20L|ERCC2_uc010xxj.1_RNA	p.S44L	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	3	178	-		Ovarian(192;0.0728)|all_neural(266;0.112)	44			ATP (By similarity).|Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.131C>T	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	36	5.614158	0.96637	.	.	ENSG00000104884	ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940;ENST00000221481	T;T;T;T	0.76578	-0.5;-0.5;0.94;-1.03	4.98	4.98	0.66077	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.90611	0.7056	H	0.94964	3.605	0.80722	D	1	B;D;D	0.64830	0.01;0.994;0.982	B;D;P	0.64687	0.001;0.928;0.806	D	0.93189	0.6581	10	0.87932	D	0	-5.7845	16.0909	0.81090	0.0:0.0:1.0:0.0	.	44;20;44	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	L	20;44;44;20;44	ENSP00000375809:S44L;ENSP00000375808:S44L;ENSP00000375804:S20L;ENSP00000221481:S44L	ENSP00000221481:S44L	S	-	2	0	ERCC2	50564220	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.843000	0.86859	2.460000	0.83146	0.561000	0.74099	TCA		0.587	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		18	77	0	0	0	0.204396	0	18	77		
ARHGAP35	2909	broad.mit.edu	37	19	47422438	47422438	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:47422438G>A	ENST00000404338.3	+	1	506	c.506G>A	c.(505-507)gGc>gAc	p.G169D		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	169					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GTTAGCAGGGGCATGAATAGG	0.458																																						uc010ekv.2		NaN																	0				central_nervous_system(1)	1						c.(505-507)GGC>GAC		glucocorticoid receptor DNA binding factor 1							116.0	106.0	109.0					19																	47422438		1918	4140	6058	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422438G>A	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.506G>A	19.37:g.47422438G>A	ENSP00000385720:p.Gly169Asp						p.G169D	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	506	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	169					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.506G>A	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614426	0.28712	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	D	0.81499	-1.5	5.9	5.9	0.94986	.	0.046978	0.85682	D	0.000000	D	0.84597	0.5507	L	0.48877	1.53	0.58432	D	0.999999	D	0.62365	0.991	P	0.55871	0.786	D	0.84054	0.0371	10	0.49607	T	0.09	-32.3547	19.0536	0.93054	0.0:0.0:1.0:0.0	.	169	Q9NRY4-2	.	D	169	ENSP00000385720:G169D	ENSP00000324820:G169D	G	+	2	0	ARHGAP35	52114278	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	6.572000	0.74005	2.806000	0.96561	0.655000	0.94253	GGC		0.458	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491		30	37	0	0	0	0.125774	0	30	37		
ZNF671	79891	broad.mit.edu	37	19	58232719	58232719	+	Silent	SNP	T	T	C	rs547014796		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr19:58232719T>C	ENST00000317398.6	-	4	830	c.735A>G	c.(733-735)aaA>aaG	p.K245K	ZNF671_ENST00000594803.1_5'Flank|ZNF671_ENST00000335820.3_Silent_p.K147K|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTCTCCTACCTTTCCCACATG	0.527													T|||	1	0.000199681	0.0	0.0	5008	,	,		20993	0.001		0.0	False		,,,				2504	0.0					uc002qpz.3		NaN																	0				ovary(1)	1						c.(733-735)AAA>AAG		zinc finger protein 671							81.0	76.0	77.0					19																	58232719		2203	4300	6503	SO:0001819	synonymous_variant	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232719T>C		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.735A>G	19.37:g.58232719T>C						ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Silent_p.K168K|ZNF671_uc010yhf.1_Silent_p.K147K	p.K245K	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	834	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	245					A6NF07|Q9H5E9	Silent	SNP	ENST00000317398.6	37	c.735A>G	CCDS12961.1																																																																																				0.527	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1		NM_024833		16	44	0	0	0	0.132662	0	16	44		
ALLC	55821	broad.mit.edu	37	2	3750104	3750104	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:3750104G>A	ENST00000252505.3	+	12	1289	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	AC010907.5_ENST00000441632.1_RNA	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	395					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CTGAGGCCCCGGGAGAAGCCC	0.597										HNSCC(21;0.051)																												uc010ewt.2		NaN																	0				central_nervous_system(1)	1						c.(1126-1128)CGG>CAG		allantoicase isoform a							24.0	26.0	25.0					2																	3750104		1850	4082	5932	SO:0001583	missense	55821						allantoicase activity	g.chr2:3750104G>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.1127G>A	2.37:g.3750104G>A	ENSP00000252505:p.Arg376Gln	HNSCC(21;0.051)				ALLC_uc002qyf.2_Missense_Mutation_p.R147Q	p.R376Q	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	12	1288	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	395					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.1127G>A	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	9.960	1.222516	0.22457	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.04	4.11	0.48088	.	0.282585	0.24815	N	0.035370	T	0.22820	0.0551	L	0.34521	1.04	0.09310	N	1	P	0.47253	0.892	B	0.35182	0.197	T	0.17137	-1.0379	9	0.28530	T	0.3	-22.1289	11.9964	0.53206	0.0:0.1752:0.8248:0.0	.	395	Q8N6M5	ALLC_HUMAN	Q	376	.	ENSP00000252505:R376Q	R	+	2	0	ALLC	3727979	0.100000	0.21855	0.035000	0.18076	0.012000	0.07955	2.126000	0.42026	2.494000	0.84150	0.591000	0.81541	CGG		0.597	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1				12	27	0	0	0	0.09319	0	12	27		
DRC1	92749	broad.mit.edu	37	2	26624885	26624885	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:26624885C>T	ENST00000288710.2	+	1	102	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	10					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											CCTAGAGGCCCTGGACCCGAA	0.657																																						uc002rhg.2		NaN																	0					0						c.(28-30)CTG>TTG		hypothetical protein LOC92749							30.0	27.0	28.0					2																	26624885		2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26624885C>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.28C>T	2.37:g.26624885C>T						C2orf39_uc010eym.1_RNA	p.L10L	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			1	102	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		10					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.28C>T	CCDS1723.1																																																																																				0.657	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1		NM_145038		7	19	0	0	0	0.038147	0	7	19		
VIT	5212	broad.mit.edu	37	2	37032673	37032673	+	Missense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:37032673G>T	ENST00000389975.3	+	13	1512	c.1210G>T	c.(1210-1212)Ggc>Tgc	p.G404C	VIT_ENST00000401530.1_Missense_Mutation_p.G383C|VIT_ENST00000404084.1_Missense_Mutation_p.G356C|VIT_ENST00000497382.1_Missense_Mutation_p.G73C|VIT_ENST00000379242.3_Missense_Mutation_p.G419C|VIT_ENST00000379241.3_Missense_Mutation_p.G382C	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	404	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GATGGTGGATGGCTGGCCCAC	0.502																																						uc002rpl.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1255-1257)GGC>TGC		vitrin							100.0	93.0	95.0					2																	37032673		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37032673G>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1210G>T	2.37:g.37032673G>T	ENSP00000374625:p.Gly404Cys					VIT_uc002rpm.2_Missense_Mutation_p.G397C|VIT_uc010ezv.2_Missense_Mutation_p.G375C|VIT_uc010ezw.2_Missense_Mutation_p.G376C	p.G419C	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			14	1476	+		all_hematologic(82;0.248)	404			VWFA 1.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1255G>T	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811746	0.90707	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	5.49	5.49	0.81192	von Willebrand factor, type A (3);	0.170578	0.51477	D	0.000082	D	0.98077	0.9366	H	0.97158	3.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99187	1.0869	10	0.87932	D	0	-27.2037	19.3832	0.94545	0.0:0.0:1.0:0.0	.	383;382;404;419	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	C	419;404;73;356;382;383	ENSP00000368544:G419C;ENSP00000374625:G404C;ENSP00000417874:G73C;ENSP00000384154:G356C;ENSP00000368543:G382C;ENSP00000385658:G383C	ENSP00000368543:G382C	G	+	1	0	VIT	36886177	1.000000	0.71417	0.992000	0.48379	0.936000	0.57629	9.827000	0.99397	2.569000	0.86673	0.650000	0.86243	GGC		0.502	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding					23	106	1	0	2.39556e-15	0.26419	2.6494e-15	23	106		
MPHOSPH10	10199	broad.mit.edu	37	2	71368431	71368431	+	Missense_Mutation	SNP	T	T	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:71368431T>A	ENST00000244230.2	+	7	1730	c.1378T>A	c.(1378-1380)Tta>Ata	p.L460I		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	460					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GCGTTTAACCTTAGACCATGA	0.378																																						uc002sht.1		NaN																	0				skin(2)|ovary(1)	3						c.(1378-1380)TTA>ATA		M-phase phosphoprotein 10							180.0	197.0	191.0					2																	71368431		2203	4300	6503	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71368431T>A	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1378T>A	2.37:g.71368431T>A	ENSP00000244230:p.Leu460Ile						p.L460I	NM_005791	NP_005782	O00566	MPP10_HUMAN			7	1730	+			460					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.1378T>A	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.649830	0.67358	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.16597	2.33;2.33	5.37	-0.0909	0.13663	.	0.221595	0.39083	N	0.001477	T	0.32793	0.0841	M	0.69185	2.1	0.37421	D	0.913634	D	0.89917	1.0	D	0.87578	0.998	T	0.07966	-1.0745	10	0.40728	T	0.16	.	8.91	0.35548	0.0:0.3344:0.0:0.6656	.	460	O00566	MPP10_HUMAN	I	460;320	ENSP00000244230:L460I;ENSP00000393034:L320I	ENSP00000244230:L460I	L	+	1	2	MPHOSPH10	71221939	0.487000	0.25988	0.018000	0.16275	0.994000	0.84299	0.811000	0.27198	-0.157000	0.11059	0.402000	0.26972	TTA		0.378	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2		NM_005791		89	180	0	0	0	0.139131	0	89	180		
FAHD2A	51011	broad.mit.edu	37	2	96072867	96072867	+	Missense_Mutation	SNP	G	G	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:96072867G>C	ENST00000233379.4	+	3	577	c.424G>C	c.(424-426)Ggg>Cgg	p.G142R	FAHD2A_ENST00000447036.1_Missense_Mutation_p.G142R	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	142							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CTCCATCGTGGGGCCCTATGA	0.577																																						uc002sur.2		NaN																	0				ovary(1)	1						c.(424-426)GGG>CGG		fumarylacetoacetate hydrolase domain containing							79.0	77.0	78.0					2																	96072867		2203	4298	6501	SO:0001583	missense	51011						hydrolase activity|metal ion binding	g.chr2:96072867G>C	AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.424G>C	2.37:g.96072867G>C	ENSP00000233379:p.Gly142Arg					FAHD2A_uc002sus.2_Missense_Mutation_p.G142R	p.G142R	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN			3	603	+			142					Q9Y3B0	Missense_Mutation	SNP	ENST00000233379.4	37	c.424G>C	CCDS2014.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451603	0.84209	.	.	ENSG00000115042	ENST00000447036;ENST00000233379	D;D	0.95518	-3.73;-3.73	3.35	3.35	0.38373	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.055536	0.64402	D	0.000001	D	0.97936	0.9321	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98452	1.0592	10	0.87932	D	0	.	12.5392	0.56158	0.0:0.0:1.0:0.0	.	142	Q96GK7	FAH2A_HUMAN	R	142	ENSP00000406424:G142R;ENSP00000233379:G142R	ENSP00000233379:G142R	G	+	1	0	FAHD2A	95436594	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.930000	0.92872	1.856000	0.53863	0.561000	0.74099	GGG		0.577	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1		NM_016044		32	45	0	0	0	0.153744	0	32	45		
GLI2	2736	broad.mit.edu	37	2	121747297	121747297	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:121747297C>T	ENST00000452319.1	+	14	3867	c.3807C>T	c.(3805-3807)tcC>tcT	p.S1269S	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.S1269S					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCCCCCAATCCTGCAGCAACA	0.622																																						uc010flp.2		NaN																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(3805-3807)TCC>TCT		GLI-Kruppel family member GLI2							32.0	32.0	32.0					2																	121747297		2200	4298	6498	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121747297C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3807C>T	2.37:g.121747297C>T						GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Silent_p.S941S|GLI2_uc002tmu.3_Silent_p.S924S	p.S1269S	NM_005270	NP_005261	P10070	GLI2_HUMAN			13	3837	+	Renal(3;0.0496)	Prostate(154;0.0623)	1269						Silent	SNP	ENST00000452319.1	37	c.3807C>T	CCDS33283.1																																																																																				0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3		NM_005270		24	15	0	0	0	0.083992	0	24	15		
CCDC74B	91409	broad.mit.edu	37	2	130897506	130897506	+	Missense_Mutation	SNP	G	G	A	rs372108145		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:130897506G>A	ENST00000310463.6	-	7	1102	c.965C>T	c.(964-966)aCg>aTg	p.T322M	CCDC74B_ENST00000409943.3_Missense_Mutation_p.T256M|CCDC74B_ENST00000392984.3_Missense_Mutation_p.T424M|MED15P9_ENST00000427638.1_RNA	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	322										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GGGGAAATGCGTGGCTTCTTG	0.627																																						uc002tqm.1		NaN																	0					0						c.(964-966)ACG>ATG		coiled-coil domain containing 74B		A	MET/THR	0,4400		0,0,2200	35.0	38.0	37.0		965	-6.9	0.0	2		37	1,8585		0,1,4292	no	missense	CCDC74B	NM_207310.1	81	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	benign	322/381	130897506	1,12985	2200	4293	6493	SO:0001583	missense	91409							g.chr2:130897506G>A		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.965C>T	2.37:g.130897506G>A	ENSP00000308873:p.Thr322Met					CCDC74B_uc010yzw.1_Missense_Mutation_p.T424M|CCDC74B_uc002tqn.1_Missense_Mutation_p.T256M	p.T322M	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN			7	1027	-	Colorectal(110;0.1)		322					Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	c.965C>T	CCDS2155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.494|0.494	-0.874189|-0.874189	0.02550|0.02550	0.0|0.0	1.16E-4|1.16E-4	ENSG00000152076|ENSG00000152076	ENST00000409488|ENST00000409943;ENST00000310463;ENST00000392984	.|T;T;T	.|0.30448	.|1.53;1.53;1.53	3.78|3.78	-6.9|-6.9	0.01655|0.01655	.|.	.|2.023760	.|0.04214	.|U	.|0.332189	T|T	0.08088|0.08088	0.0202|0.0202	N|N	0.00841|0.00841	-1.15|-1.15	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.09022	.|0.002;0.001;0.001	.|B;B;B	.|0.06405	.|0.002;0.0;0.001	T|T	0.34428|0.34428	-0.9829|-0.9829	6|10	0.56958|0.06757	D|T	0.05|0.87	.|.	9.7215|9.7215	0.40306|0.40306	0.185:0.0:0.6955:0.1195|0.185:0.0:0.6955:0.1195	.|.	.|424;256;322	.|E7ESC5;Q96LY2-2;Q96LY2	.|.;.;CC74B_HUMAN	C|M	220|256;322;424	.|ENSP00000386294:T256M;ENSP00000308873:T322M;ENSP00000376710:T424M	ENSP00000386250:R220C|ENSP00000308873:T322M	R|T	-|-	1|2	0|0	CCDC74B|CCDC74B	130613976|130613976	0.000000|0.000000	0.05858|0.05858	0.044000|0.044000	0.18714|0.18714	0.087000|0.087000	0.18053|0.18053	-3.114000|-3.114000	0.00598|0.00598	-2.004000|-2.004000	0.00961|0.00961	-0.598000|-0.598000	0.04106|0.04106	CGC|ACG		0.627	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3		NM_207310		20	42	0	0	0	0.249174	0	20	42		
RBM44	375316	broad.mit.edu	37	2	238726589	238726589	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:238726589G>A	ENST00000409864.1	+	3	1284	c.1030G>A	c.(1030-1032)Gga>Aga	p.G344R	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Missense_Mutation_p.G344R			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	343						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGATTTTTGTGGAAATAAAAT	0.308																																						uc002vxi.3		NaN																	0				ovary(4)	4						c.(1030-1032)GGA>AGA		RNA binding motif protein 44							55.0	56.0	56.0					2																	238726589		1796	4066	5862	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238726589G>A	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1030G>A	2.37:g.238726589G>A	ENSP00000386727:p.Gly344Arg						p.G344R	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1162	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	343					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.1030G>A	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685103	0.29872	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.22743	1.94;1.94	5.76	3.98	0.46160	.	0.099839	0.44688	N	0.000430	T	0.13586	0.0329	L	0.41824	1.3	0.26085	N	0.981038	P	0.38110	0.618	B	0.32211	0.142	T	0.14952	-1.0454	10	0.22706	T	0.39	-12.9815	7.8628	0.29520	0.2512:0.0:0.7488:0.0	.	343	Q6ZP01	RBM44_HUMAN	R	344	ENSP00000321179:G344R;ENSP00000386727:G344R	ENSP00000321179:G344R	G	+	1	0	RBM44	238391328	0.921000	0.31238	0.822000	0.32727	0.197000	0.23852	1.383000	0.34385	0.803000	0.34113	-0.229000	0.12294	GGA		0.308	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2		NM_001080504		28	20	0	0	0	0.116897	0	28	20		
CHGB	1114	broad.mit.edu	37	20	5904525	5904525	+	Missense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr20:5904525G>T	ENST00000378961.4	+	4	1939	c.1735G>T	c.(1735-1737)Gat>Tat	p.D579Y		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	579						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CTTCTCTGAGGATGTGAACTG	0.502																																						uc002wmg.2		NaN																	0				breast(3)|skin(2)|ovary(1)	6						c.(1735-1737)GAT>TAT		chromogranin B precursor							56.0	54.0	55.0					20																	5904525		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5904525G>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1735G>T	20.37:g.5904525G>T	ENSP00000368244:p.Asp579Tyr					CHGB_uc010zqz.1_Missense_Mutation_p.D262Y	p.D579Y	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	2041	+			579					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.1735G>T	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720252	0.68959	.	.	ENSG00000089199	ENST00000378961	T	0.07908	3.15	5.79	4.84	0.62591	.	0.307622	0.29646	N	0.011572	T	0.27349	0.0671	M	0.71581	2.175	0.31725	N	0.63774	D	0.89917	1.0	D	0.81914	0.995	T	0.06481	-1.0824	10	0.66056	D	0.02	-37.0808	14.2698	0.66145	0.071:0.0:0.929:0.0	.	579	P05060	SCG1_HUMAN	Y	579	ENSP00000368244:D579Y	ENSP00000368244:D579Y	D	+	1	0	CHGB	5852525	0.997000	0.39634	0.997000	0.53966	0.930000	0.56654	3.174000	0.50847	2.728000	0.93425	0.561000	0.74099	GAT		0.502	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2		NM_001819		15	52	1	0	4.14922e-12	0.146539	4.52888e-12	15	52		
SAMHD1	25939	broad.mit.edu	37	20	35579911	35579911	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr20:35579911C>T	ENST00000262878.4	-	1	335	c.136G>A	c.(136-138)Ggt>Agt	p.G46S	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	46	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TGCTCCGGACCCCATGTCTTG	0.652																																						uc002xgh.1		NaN																	0					0						c.(136-138)GGT>AGT		SAM domain- and HD domain-containing protein 1							100.0	115.0	110.0					20																	35579911		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35579911C>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.136G>A	20.37:g.35579911C>T	ENSP00000262878:p.Gly46Ser						p.G46S	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN			1	266	-		Myeloproliferative disorder(115;0.00878)	46			SAM.		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.136G>A	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631281	0.46944	.	.	ENSG00000101347	ENST00000262878	D	0.82255	-1.59	4.22	3.27	0.37495	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.586894	0.18157	N	0.149885	T	0.75057	0.3798	N	0.20574	0.59	0.80722	D	1	B	0.25563	0.129	B	0.38842	0.283	T	0.69599	-0.5102	10	0.39692	T	0.17	0.0114	9.3297	0.38014	0.0:0.8982:0.0:0.1018	.	46	Q9Y3Z3	SAMH1_HUMAN	S	46	ENSP00000262878:G46S	ENSP00000262878:G46S	G	-	1	0	SAMHD1	35013325	0.717000	0.27966	0.900000	0.35374	0.567000	0.35839	0.981000	0.29526	1.113000	0.41760	0.561000	0.74099	GGT		0.652	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2		NM_015474		32	148	0	0	0	0.153744	0	32	148		
PSMA7	5688	broad.mit.edu	37	20	60714933	60714933	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr20:60714933G>A	ENST00000370873.4	-	3	378	c.252C>T	c.(250-252)atC>atT	p.I84I	PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370858.3_Silent_p.I84I|PSMA7_ENST00000370861.1_Silent_p.I14I	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	84					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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GGGCCCTGTTGATGACTATCC	0.597																																						uc002ybx.1		NaN																	0					0						c.(250-252)ATC>ATT		proteasome alpha 7 subunit							45.0	41.0	42.0					20																	60714933		2203	4300	6503	SO:0001819	synonymous_variant	5688				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|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr20:60714933G>A	AF022815	CCDS13489.1	20q13.33	2008-07-02			ENSG00000101182	ENSG00000101182		"""Proteasome (prosome, macropain) subunits"""	9536	protein-coding gene	gene with protein product	"""proteasome subunit XAPC7"", ""proteasome subunit RC6-1"""	606607				8764072	Standard	NM_002792		Approved	XAPC7, C6, HSPC, RC6-1	uc002ybx.2	O14818	OTTHUMG00000032895	ENST00000370873.4:c.252C>T	20.37:g.60714933G>A						PSMA7_uc002yby.1_RNA	p.I84I	NM_002792	NP_002783	O14818	PSA7_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		3	367	-	Breast(26;3.97e-09)		84					B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8	Silent	SNP	ENST00000370873.4	37	c.252C>T	CCDS13489.1	.	.	.	.	.	.	.	.	.	.	.	5.198	0.222088	0.09863	.	.	ENSG00000101182	ENST00000442551	.	.	.	5.44	-0.675	0.11364	.	.	.	.	.	T	0.42765	0.1217	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29488	-1.0010	4	.	.	.	.	2.9256	0.05783	0.1505:0.0895:0.363:0.397	.	.	.	.	L	10	.	.	S	-	2	0	PSMA7	60148328	1.000000	0.71417	0.994000	0.49952	0.349000	0.29174	1.421000	0.34815	0.274000	0.22072	-0.181000	0.13052	TCA		0.597	PSMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079975.1		NM_002792		15	21	0	0	0	0.11911	0	15	21		
DIDO1	11083	broad.mit.edu	37	20	61527666	61527666	+	Missense_Mutation	SNP	A	A	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr20:61527666A>T	ENST00000266070.4	-	8	2458	c.2133T>A	c.(2131-2133)ttT>ttA	p.F711L	DIDO1_ENST00000395343.1_Missense_Mutation_p.F711L|DIDO1_ENST00000395335.2_Missense_Mutation_p.F711L|DIDO1_ENST00000395340.1_Missense_Mutation_p.F711L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	711	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAACAAGTTAAACATCTCCT	0.388																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(2131-2133)TTT>TTA		death inducer-obliterator 1 isoform c							149.0	134.0	139.0					20																	61527666		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61527666A>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2133T>A	20.37:g.61527666A>T	ENSP00000266070:p.Phe711Leu					DIDO1_uc002yds.1_Missense_Mutation_p.F711L|DIDO1_uc002ydt.1_Missense_Mutation_p.F711L|DIDO1_uc002ydu.1_Missense_Mutation_p.F711L	p.F711L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			8	2397	-	Breast(26;5.68e-08)		711			TFIIS central.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.2133T>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.803852	0.70682	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.76	-4.9	0.03094	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.000000	0.44097	D	0.000482	T	0.67924	0.2945	M	0.86268	2.805	0.53688	D	0.999976	D;D	0.71674	0.991;0.998	D;D	0.77004	0.946;0.989	T	0.75836	-0.3177	10	0.87932	D	0	-23.8018	18.4926	0.90853	0.3487:0.0:0.6513:0.0	.	711;711	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	L	711	ENSP00000266070:F711L;ENSP00000378752:F711L;ENSP00000378749:F711L;ENSP00000378744:F711L	ENSP00000266070:F711L	F	-	3	2	DIDO1	60998111	0.887000	0.30362	0.042000	0.18584	0.708000	0.40852	0.195000	0.17155	-0.772000	0.04602	-0.274000	0.10170	TTT		0.388	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		23	56	0	0	0	0.234183	0	23	56		
BRWD1	54014	broad.mit.edu	37	21	40569194	40569194	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr21:40569194G>A	ENST00000333229.2	-	41	6128	c.5801C>T	c.(5800-5802)aCg>aTg	p.T1934M	BRWD1_ENST00000342449.3_Missense_Mutation_p.T1934M|BRWD1_ENST00000380800.3_Missense_Mutation_p.T1934M	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1934					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTGGCAGCCGTAGCTGCACA	0.423																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NaN																	0				skin(3)|ovary(1)	4						c.(5800-5802)ACG>ATG		bromodomain and WD repeat domain containing 1							94.0	93.0	94.0					21																	40569194		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40569194G>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5801C>T	21.37:g.40569194G>A	ENSP00000330753:p.Thr1934Met					BRWD1_uc010goc.1_Missense_Mutation_p.T577M|BRWD1_uc002yxl.2_Missense_Mutation_p.T1934M	p.T1934M	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			41	5940	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1934					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.5801C>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	3.941	-0.014194	0.07681	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.53640	0.61;0.62;0.7	5.03	-1.39	0.08997	.	1.319020	0.04869	N	0.445612	T	0.32763	0.0840	L	0.31664	0.95	0.09310	N	1	B;B	0.19706	0.038;0.009	B;B	0.09377	0.004;0.001	T	0.23048	-1.0199	10	0.45353	T	0.12	1.0053	4.5533	0.12124	0.4755:0.3477:0.1768:0.0	.	1934;1934	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	M	1934	ENSP00000330753:T1934M;ENSP00000344333:T1934M;ENSP00000370178:T1934M	ENSP00000330753:T1934M	T	-	2	0	BRWD1	39491064	0.000000	0.05858	0.000000	0.03702	0.333000	0.28666	0.631000	0.24568	-0.140000	0.11394	-0.176000	0.13171	ACG		0.423	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656		56	29	0	0	0	0.139131	0	56	29		
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000544772.1_Silent_p.S151S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1		NaN	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			8	Substitution - coding silent(8)	p.S372S(1)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1114-1116)TCC>TCT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adw.1_Silent_p.S372S|CHEK2_uc003adx.1_Silent_p.S151S|CHEK2_uc003ady.1_Silent_p.S372S|CHEK2_uc003adz.1_Silent_p.S176S	p.S372S	NM_007194	NP_009125	O96017	CHK2_HUMAN			11	1188	-			372			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.1116C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1		NM_001005735		6	51	0	0	0	0.047766	0	6	51		
SLC35E4	339665	broad.mit.edu	37	22	31032724	31032724	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr22:31032724G>A	ENST00000343605.4	+	1	1086	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	SLC35E4_ENST00000300385.8_Missense_Mutation_p.R96Q|SLC35E4_ENST00000406566.1_Missense_Mutation_p.R96Q	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	96						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCATGCCACCGGGGGGCACGG	0.662																																						uc003ais.1		NaN																	0					0						c.(286-288)CGG>CAG		solute carrier family 35, member E4							29.0	23.0	25.0					22																	31032724		2200	4297	6497	SO:0001583	missense	339665					integral to membrane		g.chr22:31032724G>A		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.287G>A	22.37:g.31032724G>A	ENSP00000339626:p.Arg96Gln					SLC35E4_uc003ait.2_Missense_Mutation_p.R84Q	p.R96Q	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN			1	932	+			96					Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	c.287G>A	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016641	0.35606	.	.	ENSG00000100036	ENST00000343605;ENST00000300385;ENST00000406566;ENST00000451479	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.48	3.31	0.37934	Drug/metabolite transporter (1);	0.907888	0.09734	N	0.762767	T	0.46151	0.1378	N	0.22421	0.69	0.80722	D	1	P;P	0.41232	0.743;0.667	B;B	0.28553	0.091;0.042	T	0.40997	-0.9533	10	0.48119	T	0.1	-11.7778	8.5025	0.33168	0.0:0.3888:0.4666:0.1446	.	96;96	Q6ICL7-2;Q6ICL7	.;S35E4_HUMAN	Q	96;96;96;72	ENSP00000339626:R96Q;ENSP00000300385:R96Q;ENSP00000384377:R96Q;ENSP00000413552:R72Q	ENSP00000300385:R96Q	R	+	2	0	SLC35E4	29362724	0.973000	0.33851	0.825000	0.32803	0.194000	0.23727	2.512000	0.45485	1.309000	0.44985	0.549000	0.68633	CGG		0.662	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1		XM_290973		12	3	0	0	0	0.080935	0	12	3		
LRRN1	57633	broad.mit.edu	37	3	3886952	3886952	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:3886952G>A	ENST00000319331.3	+	2	1388	c.627G>A	c.(625-627)atG>atA	p.M209I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	209						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTCTGGATATGAACTTCAAAC	0.413																																						uc003bpt.3		NaN																	0				central_nervous_system(1)	1						c.(625-627)ATG>ATA		leucine rich repeat neuronal 1 precursor							130.0	140.0	136.0					3																	3886952		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3886952G>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.627G>A	3.37:g.3886952G>A	ENSP00000314901:p.Met209Ile					SUMF1_uc003bps.1_Intron	p.M209I	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1388	+			209			Extracellular (Potential).|LRR 6.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.627G>A	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948415	0.34377	.	.	ENSG00000175928	ENST00000319331	T	0.55234	0.53	5.57	5.57	0.84162	.	0.329295	0.37761	N	0.001941	T	0.47838	0.1467	L	0.56280	1.765	0.36228	D	0.852422	B	0.21071	0.051	B	0.14023	0.01	T	0.50759	-0.8790	10	0.22109	T	0.4	.	15.0778	0.72090	0.0:0.1414:0.8586:0.0	.	209	Q6UXK5	LRRN1_HUMAN	I	209	ENSP00000314901:M209I	ENSP00000314901:M209I	M	+	3	0	LRRN1	3861952	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.239000	0.58694	2.609000	0.88269	0.591000	0.81541	ATG		0.413	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2		NM_020873		89	158	0	0	0	0.139131	0	89	158		
DCLK3	85443	broad.mit.edu	37	3	36779198	36779198	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:36779198G>A	ENST00000416516.2	-	2	1443	c.953C>T	c.(952-954)cCt>cTt	p.P318L		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	318						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TAGCTTTGCAGGTTGGTCATC	0.567																																						uc003cgi.2		NaN																	0				lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						c.(952-954)CCT>CTT		doublecortin-like kinase 3							110.0	115.0	114.0					3																	36779198		2021	4197	6218	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779198G>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.953C>T	3.37:g.36779198G>A	ENSP00000394484:p.Pro318Leu						p.P318L	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			2	1444	-			318						Missense_Mutation	SNP	ENST00000416516.2	37	c.953C>T	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	G	0.364	-0.937989	0.02340	.	.	ENSG00000163673	ENST00000416516	T	0.67865	-0.29	4.38	0.583	0.17417	.	.	.	.	.	T	0.47507	0.1449	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26538	-1.0100	9	0.16420	T	0.52	.	8.0792	0.30735	0.3739:0.0:0.6261:0.0	.	318	Q9C098	DCLK3_HUMAN	L	318	ENSP00000394484:P318L	ENSP00000394484:P318L	P	-	2	0	DCLK3	36754202	0.000000	0.05858	0.001000	0.08648	0.217000	0.24651	0.411000	0.21115	0.223000	0.20920	-0.136000	0.14681	CCT		0.567	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1		XM_047355		53	131	0	0	0	0.139131	0	53	131		
ZNF502	91392	broad.mit.edu	37	3	44762896	44762896	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:44762896C>T	ENST00000296091.4	+	4	843	c.587C>T	c.(586-588)tCa>tTa	p.S196L	ZNF502_ENST00000436624.2_Missense_Mutation_p.S196L|ZNF502_ENST00000449836.1_Missense_Mutation_p.S196L	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		AGTCGTAGTTCATTCCTTGTT	0.428																																						uc011baa.1		NaN																	0					0						c.(586-588)TCA>TTA		zinc finger protein 502							159.0	168.0	165.0					3																	44762896		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44762896C>T	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.587C>T	3.37:g.44762896C>T	ENSP00000296091:p.Ser196Leu					ZNF502_uc003cns.2_Missense_Mutation_p.S196L|ZNF502_uc011bab.1_Missense_Mutation_p.S196L|ZNF502_uc003cnt.2_Missense_Mutation_p.S196L	p.S196L	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	842	+			196			C2H2-type 2.			Missense_Mutation	SNP	ENST00000296091.4	37	c.587C>T	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614117	0.46631	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783	T;T;T	0.07908	3.15;3.15;3.15	4.79	2.96	0.34315	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15435	0.0372	M	0.85710	2.77	0.09310	N	1	B	0.24533	0.105	B	0.22880	0.042	T	0.10520	-1.0626	9	0.87932	D	0	0.0081	10.7442	0.46170	0.0:0.8384:0.0:0.1616	.	196	Q8TBZ5	ZN502_HUMAN	L	196	ENSP00000397390:S196L;ENSP00000296091:S196L;ENSP00000406469:S196L	ENSP00000296091:S196L	S	+	2	0	ZNF502	44737900	0.001000	0.12720	0.010000	0.14722	0.463000	0.32649	1.293000	0.33353	0.722000	0.32252	0.655000	0.94253	TCA		0.428	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4		NM_033210		70	159	0	0	0	0.139131	0	70	159		
CDC25A	993	broad.mit.edu	37	3	48224431	48224431	+	Missense_Mutation	SNP	C	C	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:48224431C>A	ENST00000302506.3	-	5	825	c.417G>T	c.(415-417)gaG>gaT	p.E139D	CDC25A_ENST00000351231.3_Missense_Mutation_p.E139D|RNU7-128P_ENST00000517247.1_RNA	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	139					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTTCCTTGTTCTCATCTGGGT	0.483																																						uc003csh.1		NaN																	0				lung(3)|kidney(1)|skin(1)	5						c.(415-417)GAG>GAT		cell division cycle 25A isoform a							127.0	106.0	113.0					3																	48224431		2203	4300	6503	SO:0001583	missense	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48224431C>A	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.417G>T	3.37:g.48224431C>A	ENSP00000303706:p.Glu139Asp					CDC25A_uc003csi.1_Missense_Mutation_p.E139D	p.E139D	NM_001789	NP_001780	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	5	781	-			139					Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	c.417G>T	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466551	0.63625	.	.	ENSG00000164045	ENST00000302506;ENST00000351231;ENST00000443342;ENST00000437972	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	6.17	2.81	0.32909	.	0.189909	0.56097	D	0.000039	T	0.35537	0.0935	L	0.55103	1.725	0.34963	D	0.752414	D;D	0.55800	0.966;0.973	P;P	0.60012	0.791;0.867	T	0.42882	-0.9425	10	0.36615	T	0.2	.	7.0071	0.24842	0.0:0.6111:0.0:0.3889	.	139;139	P30304-2;P30304	.;MPIP1_HUMAN	D	139;139;138;139	ENSP00000303706:E139D;ENSP00000343166:E139D;ENSP00000416483:E138D;ENSP00000404285:E139D	ENSP00000303706:E139D	E	-	3	2	CDC25A	48199435	0.953000	0.32496	1.000000	0.80357	0.700000	0.40528	-0.258000	0.08733	0.822000	0.34565	0.655000	0.94253	GAG		0.483	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2		NM_001789		29	61	1	0	3.73148e-12	0.125774	4.09971e-12	29	61		
CELSR3	1951	broad.mit.edu	37	3	48682555	48682555	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:48682555G>A	ENST00000164024.4	-	25	8165	c.7885C>T	c.(7885-7887)Cgc>Tgc	p.R2629C	CELSR3_ENST00000544264.1_Missense_Mutation_p.R2634C|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2629					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACCTGCATGCGGTAGAGGTGC	0.657																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(7885-7887)CGC>TGC		cadherin EGF LAG seven-pass G-type receptor 3							55.0	53.0	53.0					3																	48682555		2201	4299	6500	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48682555G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7885C>T	3.37:g.48682555G>A	ENSP00000164024:p.Arg2629Cys					CELSR3_uc003cuf.1_Missense_Mutation_p.R2726C|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.R612C	p.R2629C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	25	8166	-			2629			Cytoplasmic (Potential).		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.7885C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080071	0.94050	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.37058	1.22;1.22	5.02	5.02	0.67125	GPCR, family 2-like (1);	.	.	.	.	T	0.69360	0.3102	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78152	-0.2315	9	0.87932	D	0	.	18.3418	0.90308	0.0:0.0:1.0:0.0	.	2629;2726	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	2629;2634	ENSP00000164024:R2629C;ENSP00000445694:R2634C	ENSP00000164024:R2629C	R	-	1	0	CELSR3	48657559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.439000	0.97543	2.331000	0.79229	0.561000	0.74099	CGC		0.657	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		14	22	0	0	0	0.146539	0	14	22		
FAM208A	23272	broad.mit.edu	37	3	56662575	56662575	+	Missense_Mutation	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:56662575A>G	ENST00000493960.2	-	19	3825	c.3815T>C	c.(3814-3816)tTa>tCa	p.L1272S	FAM208A_ENST00000355628.5_Missense_Mutation_p.L1211S|FAM208A_ENST00000431842.2_Missense_Mutation_p.L835S|FAM208A_ENST00000485156.1_5'Flank	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1272							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TAGTTTATCTAATTTTGATCT	0.274																																						uc003did.3		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(3631-3633)TTA>TCA		retinoblastoma-associated protein 140 isoform b							62.0	66.0	65.0					3																	56662575		2198	4293	6491	SO:0001583	missense	23272							g.chr3:56662575A>G	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3815T>C	3.37:g.56662575A>G	ENSP00000417509:p.Leu1272Ser					C3orf63_uc003dib.3_Missense_Mutation_p.L330S|C3orf63_uc003dic.3_Missense_Mutation_p.L835S|C3orf63_uc003die.3_Missense_Mutation_p.L1272S	p.L1211S	NM_015224	NP_056039	Q9UK61	CC063_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)	18	3733	-			1272					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.3632T>C	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359372	0.24598	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.50548	0.74;0.74;0.74	5.4	5.4	0.78164	.	0.115804	0.39407	N	0.001377	T	0.52565	0.1742	L	0.31664	0.95	0.28509	N	0.913612	D;P;D;P	0.76494	0.96;0.589;0.999;0.915	P;P;D;P	0.72625	0.813;0.449;0.978;0.555	T	0.48103	-0.9064	10	0.33141	T	0.24	-8.9052	10.135	0.42701	0.9252:0.0:0.0748:0.0	.	1272;1211;835;1272	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	S	835;1272;1211	ENSP00000399410:L835S;ENSP00000417509:L1272S;ENSP00000347845:L1211S	ENSP00000347845:L1211S	L	-	2	0	C3orf63	56637615	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.940000	0.56599	2.170000	0.68504	0.454000	0.30748	TTA		0.274	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2		NM_015224		16	41	0	0	0	0.132662	0	16	41		
ATP13A3	79572	broad.mit.edu	37	3	194174455	194174455	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:194174455G>A	ENST00000439040.1	-	10	1609	c.818C>T	c.(817-819)tCa>tTa	p.S273L	ATP13A3_ENST00000256031.4_Missense_Mutation_p.S273L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	273						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TCTACAAACTGAAACTCTTAC	0.348																																						uc003fty.3		NaN																	0				ovary(1)	1						c.(817-819)TCA>TTA		ATPase type 13A3							104.0	94.0	97.0					3																	194174455		1866	4120	5986	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194174455G>A	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.818C>T	3.37:g.194174455G>A	ENSP00000416508:p.Ser273Leu					ATP13A3_uc003ftz.1_5'Flank	p.S273L	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	9	1220	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	273					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.818C>T	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381507	0.61845	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.90788	-2.73;-2.73	5.43	4.55	0.56014	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.060486	0.64402	D	0.000002	D	0.85822	0.5786	L	0.43757	1.38	0.47094	D	0.999319	B	0.10296	0.003	B	0.16722	0.016	T	0.79718	-0.1686	10	0.08599	T	0.76	-19.4747	15.4899	0.75597	0.0:0.0:0.8604:0.1396	.	273	Q9H7F0	AT133_HUMAN	L	273;273;11	ENSP00000416508:S273L;ENSP00000256031:S273L	ENSP00000256031:S273L	S	-	2	0	ATP13A3	195655744	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.429000	0.97481	1.272000	0.44329	0.650000	0.86243	TCA		0.348	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2		NM_024524		19	24	0	0	0	0.204396	0	19	24		
TNK2	10188	broad.mit.edu	37	3	195599181	195599181	+	Missense_Mutation	SNP	G	G	C	rs548592570		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:195599181G>C	ENST00000333602.6	-	10	2034	c.1417C>G	c.(1417-1419)Cgc>Ggc	p.R473G	TNK2_ENST00000381916.2_Missense_Mutation_p.R536G|TNK2_ENST00000392400.1_Missense_Mutation_p.R473G|TNK2_ENST00000428187.1_Missense_Mutation_p.R505G|TNK2_ENST00000316664.3_Missense_Mutation_p.R473G	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	473				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CAGCAGTGGCGGGGGTCACTG	0.677																																						uc003fvu.1		NaN																	0				ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(1417-1419)CGC>GGC		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						47.0	39.0	41.0					3																	195599181		2203	4300	6503	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195599181G>C	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1417C>G	3.37:g.195599181G>C	ENSP00000329425:p.Arg473Gly					TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Missense_Mutation_p.R505G|TNK2_uc003fvt.1_Missense_Mutation_p.R536G|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Missense_Mutation_p.R303G	p.R473G	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	10	1960	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	473	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.1417C>G	CCDS33928.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800511	0.70567	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400;ENST00000411741;ENST00000316664	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.45	5.45	0.79879	GTPase binding (1);	0.233852	0.44688	D	0.000439	T	0.36826	0.0981	N	0.04787	-0.16	0.39229	D	0.963639	P;P;P;B	0.51351	0.585;0.944;0.931;0.116	B;P;P;B	0.51550	0.209;0.673;0.543;0.075	T	0.33701	-0.9858	10	0.02654	T	1	.	13.5858	0.61931	0.0:0.1559:0.844:0.0	.	349;473;536;505	Q59FX1;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	G	473;536;25;505;473;118;473	ENSP00000329425:R473G;ENSP00000371341:R536G;ENSP00000398614:R25G;ENSP00000392546:R505G;ENSP00000376201:R473G;ENSP00000415126:R118G;ENSP00000323216:R473G	ENSP00000323216:R473G	R	-	1	0	TNK2	197083578	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.077000	0.64419	2.569000	0.86673	0.561000	0.74099	CGC		0.677	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3		NM_005781		8	18	0	0	0	0.038147	0	8	18		
PAK2	5062	broad.mit.edu	37	3	196530009	196530009	+	Missense_Mutation	SNP	A	A	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:196530009A>C	ENST00000327134.3	+	4	732	c.410A>C	c.(409-411)cAg>cCg	p.Q137P		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	137	Autoregulatory region. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ACAGTGAAGCAGAAATATCTG	0.428																																						uc003fwy.3		NaN																	0				ovary(1)|lung(1)	2						c.(409-411)CAG>CCG		p21-activated kinase 2							94.0	86.0	88.0					3																	196530009		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196530009A>C	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.410A>C	3.37:g.196530009A>C	ENSP00000314067:p.Gln137Pro						p.Q137P	NM_002577	NP_002568	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	4	732	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		137			Autoregulatory region (By similarity).		Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.410A>C	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.192701	0.58017	.	.	ENSG00000180370	ENST00000327134	T	0.70399	-0.48	5.27	5.27	0.74061	.	0.053979	0.85682	D	0.000000	T	0.72358	0.3450	M	0.76838	2.35	0.80722	D	1	B	0.14438	0.01	B	0.17722	0.019	T	0.70868	-0.4755	10	0.49607	T	0.09	.	15.1798	0.72947	1.0:0.0:0.0:0.0	.	137	Q13177	PAK2_HUMAN	P	137	ENSP00000314067:Q137P	ENSP00000314067:Q137P	Q	+	2	0	PAK2	198014406	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.919000	0.92770	2.002000	0.58637	0.460000	0.39030	CAG		0.428	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1		NM_002577		36	19	0	0	0	0.203993	0	36	19		
LMLN	89782	broad.mit.edu	37	3	197712742	197712742	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr3:197712742C>T	ENST00000330198.4	+	8	932	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F	LMLN_ENST00000482695.1_Missense_Mutation_p.L252F|LMLN_ENST00000332636.5_Missense_Mutation_p.L252F|LMLN_ENST00000420910.2_Missense_Mutation_p.L304F	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	304					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TGCAGATGGCCTCCCACCTTT	0.378																																						uc011buo.1		NaN																	0				skin(1)	1						c.(910-912)CTC>TTC		leishmanolysin-like isoform 2							101.0	98.0	99.0					3																	197712742		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197712742C>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.910C>T	3.37:g.197712742C>T	ENSP00000328829:p.Leu304Phe					LMLN_uc003fyt.2_Missense_Mutation_p.L252F|LMLN_uc010iar.2_Missense_Mutation_p.L304F|LMLN_uc010ias.2_Missense_Mutation_p.L252F|LMLN_uc003fyu.2_Missense_Mutation_p.L64F	p.L304F	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	8	932	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	304					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.910C>T	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623763	0.28889	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.24	3.27	0.37495	.	0.000000	0.64402	D	0.000001	T	0.52565	0.1742	M	0.70275	2.135	0.46499	D	0.999073	P;D;D;P;P	0.89917	0.599;0.997;1.0;0.774;0.544	B;D;D;P;B	0.79108	0.345;0.964;0.992;0.463;0.234	T	0.54741	-0.8248	10	0.09843	T	0.71	-10.8579	6.2432	0.20803	0.0:0.8592:0.0:0.1408	.	304;252;304;296;252	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	F	252;304;304;252	ENSP00000418324:L252F;ENSP00000328829:L304F;ENSP00000410926:L304F;ENSP00000328611:L252F	ENSP00000328829:L304F	L	+	1	0	LMLN	199197139	0.964000	0.33143	1.000000	0.80357	0.794000	0.44872	2.036000	0.41165	2.201000	0.70794	0.298000	0.19748	CTC		0.378	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1		NM_033029		17	10	0	0	0	0.189662	0	17	10		
ACOX3	8310	broad.mit.edu	37	4	8412072	8412072	+	Missense_Mutation	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr4:8412072A>G	ENST00000356406.5	-	6	631	c.554T>C	c.(553-555)aTa>aCa	p.I185T	ACOX3_ENST00000503233.1_Missense_Mutation_p.I185T|ACOX3_ENST00000413009.2_Missense_Mutation_p.I185T	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	185					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AGGGGAATGTATGATGAATTC	0.438																																						uc010idk.2		NaN																	0				central_nervous_system(1)	1						c.(553-555)ATA>ACA		acyl-Coenzyme A oxidase 3 isoform a							86.0	78.0	81.0					4																	8412072		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8412072A>G	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.554T>C	4.37:g.8412072A>G	ENSP00000348775:p.Ile185Thr					ACOX3_uc003glc.3_Missense_Mutation_p.I185T|ACOX3_uc003gld.3_Missense_Mutation_p.I185T|ACOX3_uc003gle.1_Missense_Mutation_p.I90T	p.I185T	NM_003501	NP_003492	O15254	ACOX3_HUMAN			6	699	-			185					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.554T>C	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971893	0.74246	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233;ENST00000514423	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	5.21	5.21	0.72293	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.235548	0.41712	D	0.000840	D	0.98544	0.9514	H	0.96430	3.82	0.42195	D	0.991746	D;D;D	0.55800	0.958;0.973;0.958	P;P;P	0.62740	0.906;0.848;0.906	D	0.99857	1.1078	10	0.87932	D	0	-9.9702	14.1942	0.65659	1.0:0.0:0.0:0.0	.	185;185;185	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	T	185;185;185;90	ENSP00000413994:I185T;ENSP00000348775:I185T;ENSP00000421625:I185T;ENSP00000427321:I90T	ENSP00000348775:I185T	I	-	2	0	ACOX3	8462972	1.000000	0.71417	0.204000	0.23530	0.961000	0.63080	7.829000	0.86735	2.189000	0.69895	0.533000	0.62120	ATA		0.438	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4				27	16	0	0	0	0.116897	0	27	16		
NOA1	84273	broad.mit.edu	37	4	57842668	57842668	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr4:57842668C>T	ENST00000264230.4	-	1	2321	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000431623.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	362	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GTGCAGTAATCGGACTCCAGG	0.607																																						uc003hck.2		NaN																	0				ovary(1)|breast(1)	2						c.(1084-1086)GAT>AAT		hypothetical protein LOC84273							72.0	74.0	74.0					4																	57842668		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57842668C>T	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1084G>A	4.37:g.57842668C>T	ENSP00000264230:p.Asp362Asn					POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	p.D362N	NM_032313	NP_115689	Q8NC60	CD014_HUMAN			1	1159	-	Glioma(25;0.08)|all_neural(26;0.181)		362					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.1084G>A	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	C	36	5.691002	0.96793	.	.	ENSG00000084092	ENST00000264230	T	0.37584	1.19	5.68	5.68	0.88126	.	0.047218	0.85682	D	0.000000	T	0.62441	0.2428	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62338	-0.6875	10	0.56958	D	0.05	.	19.7894	0.96452	0.0:1.0:0.0:0.0	.	362	Q8NC60	CD014_HUMAN	N	362	ENSP00000264230:D362N	ENSP00000264230:D362N	D	-	1	0	C4orf14	57537425	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	7.386000	0.79775	2.672000	0.90937	0.555000	0.69702	GAT		0.607	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2		NM_032313		14	14	0	0	0	0.105934	0	14	14		
HSD17B11	51170	broad.mit.edu	37	4	88312220	88312220	+	Start_Codon_SNP	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr4:88312220C>T	ENST00000358290.4	-	1	318	c.3G>A	c.(1-3)atG>atA	p.M1I	HSD17B11_ENST00000507286.1_Start_Codon_SNP_p.M1I	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	1					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		GAAGAAATTTCATCCCTTTTG	0.428																																						uc003hqp.2		NaN																	0				ovary(2)	2						c.(1-3)ATG>ATA		estradiol 17-beta-dehydrogenase 11							43.0	51.0	48.0					4																	88312220		2202	4299	6501	SO:0001582	initiator_codon_variant	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88312220C>T	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.3G>A	4.37:g.88312220C>T	ENSP00000351035:p.Met1Ile						p.M1I	NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	1	236	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1					Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	c.3G>A	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896296	0.91962	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;D	0.83837	-1.77;-1.53	5.98	4.27	0.50696	.	0.176968	0.49916	N	0.000121	T	0.77136	0.4086	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.71487	-0.4578	9	0.51188	T	0.08	.	12.5254	0.56083	0.0:0.8641:0.0:0.1359	.	1	Q8NBQ5	DHB11_HUMAN	I	1	ENSP00000351035:M1I;ENSP00000423775:M1I	ENSP00000351035:M1I	M	-	3	0	HSD17B11	88531244	0.996000	0.38824	0.199000	0.23439	0.312000	0.27988	1.860000	0.39428	0.876000	0.35872	0.655000	0.94253	ATG		0.428	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1		NM_016245	Missense_Mutation	13	9	0	0	0	0.09319	0	13	9		
SDHA	6389	broad.mit.edu	37	5	236602	236602	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:236602G>A	ENST00000264932.6	+	10	1435	c.1320G>A	c.(1318-1320)gaG>gaA	p.E440E	SDHA_ENST00000504309.1_Silent_p.E440E|SDHA_ENST00000510361.1_Silent_p.E392E	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	440					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.E440E(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCTGTGGGGAGGCCGCCTGTG	0.592									Familial Paragangliomas																													uc003jao.3		NaN																	1	Substitution - coding silent(1)		cervix(1)		0						c.(1318-1320)GAG>GAA		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)						60.0	56.0	58.0					5																	236602		2203	4300	6503	SO:0001819	synonymous_variant	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:236602G>A	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1320G>A	5.37:g.236602G>A						SDHA_uc011clv.1_Silent_p.E440E|SDHA_uc011clw.1_Silent_p.E392E|SDHA_uc003jap.3_Silent_p.E440E|SDHA_uc003jaq.3_Silent_p.E215E|SDHA_uc003jar.3_Silent_p.E34E	p.E440E	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		10	1435	+			440				FAD (By similarity).	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	ENST00000264932.6	37	c.1320G>A	CCDS3853.1																																																																																				0.592	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1		NM_004168		20	47	0	0	0	0.189662	0	20	47		
SLC6A3	6531	broad.mit.edu	37	5	1406324	1406324	+	Silent	SNP	C	C	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:1406324C>A	ENST00000270349.9	-	12	1705	c.1578G>T	c.(1576-1578)ctG>ctT	p.L526L	SLC6A3_ENST00000453492.2_Silent_p.L526L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	526					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGGGGCTGACCAGCTTCCAGC	0.672																																						uc003jck.2		NaN																	0				ovary(3)|breast(2)|pancreas(1)	6						c.(1576-1578)CTG>CTT		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						55.0	55.0	55.0					5																	1406324		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1406324C>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1578G>T	5.37:g.1406324C>A							p.L526L	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		12	1699	-			526			Helical; Name=11; (Potential).		A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.1578G>T	CCDS3863.1																																																																																				0.672	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3		NM_001044		36	52	1	0	2.42023e-17	0.183431	2.73094e-17	36	52		
GDNF	2668	broad.mit.edu	37	5	37834771	37834771	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:37834771G>A	ENST00000326524.2	-	2	327	c.128C>T	c.(127-129)gCg>gTg	p.A43V	GDNF_ENST00000344622.4_Intron|GDNF_ENST00000381826.4_Intron|GDNF_ENST00000515058.1_Intron|GDNF_ENST00000427982.1_Missense_Mutation_p.A60V	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	43					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CGCGAAGGGCGCGCGGCGGCG	0.771																																						uc011cpi.1		NaN																	0					0						c.(127-129)GCG>GTG		glial cell derived neurotrophic factor isoform 1							7.0	10.0	9.0					5																	37834771		2004	3895	5899	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37834771G>A		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.128C>T	5.37:g.37834771G>A	ENSP00000317145:p.Ala43Val					GDNF_uc011cpc.1_Intron|GDNF_uc011cpd.1_Intron|GDNF_uc011cpe.1_Intron|GDNF_uc011cpf.1_Intron|GDNF_uc011cpg.1_Missense_Mutation_p.A60V|GDNF_uc011cph.1_Intron	p.A43V	NM_000514	NP_000505	P39905	GDNF_HUMAN			2	328	-	all_lung(31;0.00118)		43					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.128C>T	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.418159	0.42918	.	.	ENSG00000168621	ENST00000326524;ENST00000427982	D;D	0.93488	-3.22;-3.23	5.63	4.75	0.60458	.	0.660831	0.16134	N	0.228032	D	0.86577	0.5966	N	0.19112	0.55	0.80722	D	1	B;B	0.10296	0.0;0.003	B;B	0.08055	0.0;0.003	T	0.80317	-0.1433	10	0.25106	T	0.35	-3.5884	10.6683	0.45743	0.0905:0.0:0.9095:0.0	.	43;60	P39905;P39905-3	GDNF_HUMAN;.	V	43;60	ENSP00000317145:A43V;ENSP00000409007:A60V	ENSP00000317145:A43V	A	-	2	0	GDNF	37870528	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.858000	0.48356	1.351000	0.45789	0.655000	0.94253	GCG		0.771	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1		NM_000514		3	16	0	0	0	0.115264	0	3	16		
GPR98	84059	broad.mit.edu	37	5	89990019	89990019	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:89990019C>A	ENST00000405460.2	+	33	7542	c.7446C>A	c.(7444-7446)taC>taA	p.Y2482*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2482	Calx-beta 17. {ECO:0000305|PubMed:11606593}.				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)		TCTGGACCTACAGGAAAAACA	0.493																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(7444-7446)TAC>TAA		G protein-coupled receptor 98 precursor							72.0	71.0	71.0					5																	89990019		1942	4141	6083	SO:0001587	stop_gained	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.chr5:89990019C>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7446C>A	5.37:g.89990019C>A	ENSP00000384582:p.Tyr2482*					GPR98_uc003kjt.2_Nonsense_Mutation_p.Y188*|GPR98_uc003kjv.2_Nonsense_Mutation_p.Y82*	p.Y2482*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7542	+		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)	2482			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	37	c.7446C>A	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	16.019739|16.019739	0.99852|0.99852	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|.	.|.	.|.	5.92|5.92	2.15|2.15	0.27550|0.27550	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.29256|.	0.0728|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.14227|.	-1.0480|.	4|.	.|0.02654	.|T	.|1	.|.	9.1838|9.1838	0.37158|0.37158	0.0:0.6647:0.0:0.3353|0.0:0.6647:0.0:0.3353	.|.	.|.	.|.	.|.	K|X	48|2482	.|.	.|ENSP00000296619:Y2482X	T|Y	+|+	2|3	0|2	GPR98|GPR98	90025775|90025775	0.970000|0.970000	0.33590|0.33590	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.468000|0.468000	0.22051|0.22051	0.837000|0.837000	0.34925|0.34925	0.655000|0.655000	0.94253|0.94253	ACA|TAC		0.493	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		8	47	1	0	0.000157383	0.038147	0.000160262	8	47		
REEP5	7905	broad.mit.edu	37	5	112257852	112257852	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:112257852G>A	ENST00000379638.4	-	1	384	c.36C>T	c.(34-36)ttC>ttT	p.F12F	REEP5_ENST00000504247.1_Silent_p.F12F|REEP5_ENST00000513339.1_Silent_p.F12F|REEP5_ENST00000545426.1_Silent_p.F12F|REEP5_ENST00000474542.2_5'Flank	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	12						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		TCTCGTGCAGGAACCGGTCGA	0.647																																						uc003kqe.1		NaN																	0					0						c.(34-36)TTC>TTT		receptor accessory protein 5							65.0	58.0	60.0					5																	112257852		2202	4300	6502	SO:0001819	synonymous_variant	7905					integral to membrane	protein binding	g.chr5:112257852G>A	BC000232	CCDS4109.2	5q22-q23	2008-02-05	2006-02-07	2006-02-07	ENSG00000129625	ENSG00000129625		"""Receptor accessory proteins"""	30077	protein-coding gene	gene with protein product	"""deleted in polyposis 1"", ""polyposis locus protein 1"", ""polyposis coli region hypothetical protein DP1"""	125265	"""chromosome 5 open reading frame 18"""	C5orf18		16271481, 15550249	Standard	NM_005669		Approved	DP1, TB2, D5S346	uc003kqe.1	Q00765	OTTHUMG00000128807	ENST00000379638.4:c.36C>T	5.37:g.112257852G>A						REEP5_uc011cvw.1_5'Flank|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Silent_p.F12F|REEP5_uc011cvz.1_RNA	p.F12F	NM_005669	NP_005660	Q00765	REEP5_HUMAN		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)	1	180	-		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	12					B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9	Silent	SNP	ENST00000379638.4	37	c.36C>T	CCDS4109.2																																																																																				0.647	REEP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250739.2		NM_005669		5	21	0	0	0	0.184627	0	5	21		
PSD2	84249	broad.mit.edu	37	5	139193876	139193876	+	Missense_Mutation	SNP	C	C	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:139193876C>G	ENST00000274710.3	+	4	1148	c.943C>G	c.(943-945)Cat>Gat	p.H315D		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	315	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.H315Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGCTGCTCATCGGCTGGC	0.647																																						uc003leu.1		NaN																	1	Substitution - Missense(1)		cervix(1)	ovary(1)	1						c.(943-945)CAT>GAT		pleckstrin and Sec7 domain containing 2							56.0	49.0	52.0					5																	139193876		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193876C>G	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.943C>G	5.37:g.139193876C>G	ENSP00000274710:p.His315Asp						p.H315D	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1148	+			315			SEC7.		D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.943C>G	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527872	0.27299	.	.	ENSG00000146005	ENST00000274710	T	0.52526	0.66	4.7	3.73	0.42828	SEC7-like (4);	0.215353	0.36482	N	0.002570	T	0.30727	0.0774	N	0.14661	0.345	0.19575	N	0.999967	B	0.13145	0.007	B	0.24155	0.051	T	0.19679	-1.0298	10	0.36615	T	0.2	.	11.7292	0.51726	0.3189:0.6811:0.0:0.0	.	315	Q9BQI7	PSD2_HUMAN	D	315	ENSP00000274710:H315D	ENSP00000274710:H315D	H	+	1	0	PSD2	139174060	0.998000	0.40836	0.959000	0.39883	0.521000	0.34408	4.153000	0.58118	2.153000	0.67306	0.563000	0.77884	CAT		0.647	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1		NM_032289		22	38	0	0	0	0.219247	0	22	38		
PCDHA2	56146	broad.mit.edu	37	5	140176494	140176494	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:140176494G>A	ENST00000526136.1	+	1	1945	c.1945G>A	c.(1945-1947)Gtg>Atg	p.V649M	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V649M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V649M	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	649	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			CCGCCTACTCGTGCTGGTGAA	0.652																																						uc003lhd.2		NaN																	0				ovary(4)	4						c.(1945-1947)GTG>ATG		protocadherin alpha 2 isoform 1 precursor							75.0	74.0	74.0					5																	140176494		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140176494G>A	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.1945G>A	5.37:g.140176494G>A	ENSP00000431748:p.Val649Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.V649M|PCDHA2_uc011czy.1_Missense_Mutation_p.V649M	p.V649M	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2051	+			649			Cadherin 6.|Extracellular (Potential).		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1945G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	8.897	0.955449	0.18507	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.56941	0.43;0.43;0.43	4.05	4.05	0.47172	Cadherin (4);Cadherin-like (1);	0.000000	0.35870	U	0.002928	T	0.78735	0.4330	H	0.96916	3.905	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.984;0.987;0.984	T	0.72293	-0.4336	10	0.87932	D	0	.	9.0	0.36077	0.1762:0.0:0.8238:0.0	.	649;649;649	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	M	649	ENSP00000430584:V649M;ENSP00000367372:V649M;ENSP00000431748:V649M	ENSP00000367372:V649M	V	+	1	0	PCDHA2	140156678	0.643000	0.27269	0.845000	0.33349	0.003000	0.03518	0.966000	0.29331	1.989000	0.58080	0.644000	0.83932	GTG		0.652	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3		NM_018905		15	68	0	0	0	0.11911	0	15	68		
PCDHB1	29930	broad.mit.edu	37	5	140431567	140431567	+	Missense_Mutation	SNP	C	C	A	rs550698671		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:140431567C>A	ENST00000306549.3	+	1	589	c.512C>A	c.(511-513)aCc>aAc	p.T171N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	171	Cadherin 2. {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)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAACTACACCCTGAGTGCC	0.567																																						uc003lik.1		NaN																	0					0						c.(511-513)ACC>AAC		protocadherin beta 1 precursor							50.0	51.0	51.0					5																	140431567		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431567C>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.512C>A	5.37:g.140431567C>A	ENSP00000307234:p.Thr171Asn						p.T171N	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	589	+			171			Cadherin 2.|Extracellular (Potential).		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.512C>A	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	7.211	0.595344	0.13875	.	.	ENSG00000171815	ENST00000306549	T	0.51071	0.72	5.98	4.2	0.49525	Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000161	T	0.54447	0.1859	M	0.84846	2.72	0.20703	N	0.999862	B	0.27910	0.193	B	0.33890	0.172	T	0.52624	-0.8551	10	0.48119	T	0.1	.	11.2486	0.49013	0.0:0.5752:0.3569:0.0679	.	171	Q9Y5F3	PCDB1_HUMAN	N	171	ENSP00000307234:T171N	ENSP00000307234:T171N	T	+	2	0	PCDHB1	140411751	0.003000	0.15002	0.610000	0.28997	0.535000	0.34838	0.412000	0.21131	0.859000	0.35456	0.655000	0.94253	ACC		0.567	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2		NM_013340		12	75	1	0	7.93312e-07	0.11911	8.33227e-07	12	75		
PCDHGA12	26025	broad.mit.edu	37	5	140811312	140811312	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:140811312C>T	ENST00000252085.3	+	1	1128	c.986C>T	c.(985-987)gCg>gTg	p.A329V	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	329	Cadherin 3. {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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATATTCTGCGCGAGCCAAA	0.507																																						uc003lkt.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(985-987)GCG>GTG		protocadherin gamma subfamily A, 12 isoform 1							139.0	129.0	132.0					5																	140811312		2203	4300	6503	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140811312C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.986C>T	5.37:g.140811312C>T	ENSP00000252085:p.Ala329Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A329V	p.A329V	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1155	+			329			Cadherin 3.|Extracellular (Potential).		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.986C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	13.82	2.349792	0.41599	.	.	ENSG00000253159	ENST00000252085	T	0.03181	4.02	4.68	3.77	0.43336	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.10380	0.0254	M	0.75447	2.3	0.09310	N	1	P;P	0.51653	0.934;0.947	P;P	0.49276	0.469;0.605	T	0.11470	-1.0586	9	0.34782	T	0.22	.	14.1704	0.65506	0.0:0.8487:0.1513:0.0	.	329;329	O60330-2;O60330	.;PCDGC_HUMAN	V	329	ENSP00000252085:A329V	ENSP00000252085:A329V	A	+	2	0	PCDHGA12	140791496	0.000000	0.05858	0.053000	0.19242	0.974000	0.67602	-0.088000	0.11198	1.130000	0.42092	0.655000	0.94253	GCG		0.507	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2		NM_003735		50	71	0	0	0	0.139131	0	50	71		
PWWP2A	114825	broad.mit.edu	37	5	159520621	159520621	+	Missense_Mutation	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:159520621A>G	ENST00000307063.7	-	2	1070	c.1036T>C	c.(1036-1038)Tct>Cct	p.S346P	PWWP2A_ENST00000456329.3_Missense_Mutation_p.S346P|PWWP2A_ENST00000523662.1_Missense_Mutation_p.S346P	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	346										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATATTTAGAAGAGTCAGTT	0.328																																						uc011ded.1		NaN																	0					0						c.(1036-1038)TCT>CCT		PWWP domain containing 2A isoform b							100.0	85.0	90.0					5																	159520621		1813	4091	5904	SO:0001583	missense	114825							g.chr5:159520621A>G		CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.1036T>C	5.37:g.159520621A>G	ENSP00000305151:p.Ser346Pro					PWWP2A_uc003lxv.3_Missense_Mutation_p.S346P|PWWP2A_uc011dec.1_Missense_Mutation_p.S346P	p.S346P	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	1093	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	346					G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	ENST00000307063.7	37	c.1036T>C	CCDS47332.1	.	.	.	.	.	.	.	.	.	.	A	8.231	0.804574	0.16467	.	.	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	T;T;T	0.25912	1.77;1.77;1.77	5.27	2.75	0.32379	.	0.292141	0.36778	N	0.002412	T	0.12987	0.0315	N	0.22421	0.69	0.30308	N	0.788838	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.06405	0.0;0.001;0.002	T	0.17379	-1.0371	10	0.21014	T	0.42	-9.3054	3.8842	0.09091	0.6631:0.1352:0.0721:0.1296	.	346;346;346	Q96N64;G5EA07;Q96N64-2	PWP2A_HUMAN;.;.	P	346	ENSP00000390462:S346P;ENSP00000428143:S346P;ENSP00000305151:S346P	ENSP00000305151:S346P	S	-	1	0	PWWP2A	159453199	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.212000	0.51145	0.352000	0.24053	0.460000	0.39030	TCT		0.328	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1				9	32	0	0	0	0.047766	0	9	32		
SH3PXD2B	285590	broad.mit.edu	37	5	171773245	171773245	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:171773245C>T	ENST00000311601.5	-	12	1253	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	SH3PXD2B_ENST00000519643.1_Silent_p.P361P	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	361					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGGCGGCTTCGGCAGGTTGA	0.597																																						uc003mbr.2		NaN																	0				ovary(3)|skin(1)	4						c.(1081-1083)CCG>CCA		SH3 and PX domains 2B							197.0	188.0	191.0					5																	171773245		2203	4300	6503	SO:0001819	synonymous_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171773245C>T	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1083G>A	5.37:g.171773245C>T							p.P361P	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		12	1254	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	361					B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	c.1083G>A	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	c	1.360	-0.589071	0.03799	.	.	ENSG00000174705	ENST00000518522	.	.	.	5.31	-6.2	0.02072	.	.	.	.	.	T	0.38427	0.1040	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40079	-0.9582	4	.	.	.	-18.0031	3.5203	0.07740	0.0872:0.1732:0.4276:0.312	.	.	.	.	Q	32	.	.	R	-	2	0	SH3PXD2B	171705850	0.018000	0.18449	0.853000	0.33588	0.193000	0.23685	-1.054000	0.03496	-1.101000	0.03027	-2.801000	0.00113	CGA		0.597	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1		NM_017963		25	105	0	0	0	0.26419	0	25	105		
SQSTM1	8878	broad.mit.edu	37	5	179263587	179263587	+	Silent	SNP	G	G	A	rs11548636		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:179263587G>A	ENST00000389805.4	+	8	1495	c.1317G>A	c.(1315-1317)ccG>ccA	p.P439P	SQSTM1_ENST00000402874.3_Silent_p.P355P|C5orf45_ENST00000403396.2_3'UTR|C5orf45_ENST00000523267.1_5'Flank|SQSTM1_ENST00000376929.3_Silent_p.P355P|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R356H|SQSTM1_ENST00000360718.5_Silent_p.P355P	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	439	Interaction with NTRK1. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCCCCGCCGTTGTGACCAC	0.542																																						uc003mkw.3		NaN																SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(1315-1317)CCG>CCA		sequestosome 1 isoform 1							174.0	153.0	160.0					5																	179263587		2203	4300	6503	SO:0001819	synonymous_variant	8878	Paget_Disease_of_Bone			anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179263587G>A	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.1317G>A	5.37:g.179263587G>A						SQSTM1_uc011dgr.1_Silent_p.P355P|SQSTM1_uc011dgs.1_Silent_p.P355P|SQSTM1_uc003mkv.3_Missense_Mutation_p.R356H|SQSTM1_uc003mkx.2_Silent_p.P355P	p.P439P	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1412	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	439			Interaction with NTRK1 (By similarity).		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Silent	SNP	ENST00000389805.4	37	c.1317G>A	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	G	3.482	-0.105728	0.06924	.	.	ENSG00000161011	ENST00000510187	T	0.21543	2.0	4.88	-9.77	0.00500	.	.	.	.	.	T	0.10895	0.0266	.	.	.	0.20563	N	0.999887	B	0.02656	0.0	B	0.01281	0.0	T	0.20207	-1.0282	8	0.38643	T	0.18	-5.1843	5.663	0.17680	0.0882:0.3497:0.3649:0.1972	.	356	E7EMC7	.	H	356	ENSP00000424477:R356H	ENSP00000424477:R356H	R	+	2	0	SQSTM1	179196193	.	.	0.001000	0.08648	0.007000	0.05969	.	.	-4.610000	0.00040	-1.587000	0.00848	CGT		0.542	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1				48	56	0	0	0	0.139131	0	48	56		
BTNL9	153579	broad.mit.edu	37	5	180486555	180486555	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:180486555C>T	ENST00000327705.9	+	11	1532	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	BTNL9_ENST00000376842.3_Missense_Mutation_p.A435V	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	434	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCGTCCTGGCCCCGCACCGC	0.741																																						uc003mmt.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1300-1302)GCC>GTC		butyrophilin-like 9 precursor							18.0	19.0	19.0					5																	180486555		2196	4288	6484	SO:0001583	missense	153579					integral to membrane		g.chr5:180486555C>T	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.1301C>T	5.37:g.180486555C>T	ENSP00000330200:p.Ala434Val						p.A434V	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1532	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	434			Cytoplasmic (Potential).|B30.2/SPRY.		A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	c.1301C>T	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	c	11.65	1.702819	0.30232	.	.	ENSG00000165810	ENST00000327705;ENST00000376842	T;T	0.61510	0.1;0.1	4.66	0.605	0.17553	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.42154	0.1190	N	0.25332	0.735	0.09310	N	1	B	0.18741	0.03	B	0.29440	0.102	T	0.37197	-0.9716	9	0.39692	T	0.17	.	5.9656	0.19322	0.5769:0.3311:0.0919:0.0	.	434	Q6UXG8	BTNL9_HUMAN	V	434;435	ENSP00000330200:A434V;ENSP00000366038:A435V	ENSP00000330200:A434V	A	+	2	0	BTNL9	180419161	0.171000	0.23029	0.405000	0.26409	0.002000	0.02628	3.123000	0.50453	0.271000	0.22005	-0.535000	0.04281	GCC		0.741	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3		NM_152547		16	17	0	0	0	0.146539	0	16	17		
RANBP9	10048	broad.mit.edu	37	6	13639851	13639851	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr6:13639851T>C	ENST00000011619.3	-	9	1527	c.1469A>G	c.(1468-1470)cAt>cGt	p.H490R	RANBP9_ENST00000539980.1_Missense_Mutation_p.H261R	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	490					axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ATTCATTCCATGGCTGGGGCT	0.403																																						uc003nbb.2		NaN																	0				lung(1)|skin(1)	2						c.(1468-1470)CAT>CGT		RAN binding protein 9							145.0	131.0	136.0					6																	13639851		2203	4300	6503	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13639851T>C	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1469A>G	6.37:g.13639851T>C	ENSP00000011619:p.His490Arg					RANBP9_uc003nba.2_Missense_Mutation_p.H149R	p.H490R	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		9	1528	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	490					A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.1469A>G	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.290886	0.80914	.	.	ENSG00000010017	ENST00000011619;ENST00000539980;ENST00000283152	T	0.78126	-1.15	5.41	5.41	0.78517	.	0.046728	0.85682	D	0.000000	D	0.82323	0.5012	M	0.67953	2.075	0.47407	D	0.999413	D	0.60160	0.987	D	0.72982	0.979	T	0.81453	-0.0926	10	0.33940	T	0.23	-16.5093	14.3109	0.66415	0.0:0.0:0.0:1.0	.	490	Q96S59	RANB9_HUMAN	R	490;261;329	ENSP00000011619:H490R	ENSP00000011619:H490R	H	-	2	0	RANBP9	13747830	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.194000	0.72082	2.173000	0.68751	0.528000	0.53228	CAT		0.403	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1				33	45	0	0	0	0.173368	0	33	45		
MICB	4277	broad.mit.edu	37	6	31477644	31477644	+	Silent	SNP	G	G	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr6:31477644G>C	ENST00000252229.6	+	6	1189	c.1110G>C	c.(1108-1110)ctG>ctC	p.L370L	MICB_ENST00000538442.1_Silent_p.L338L|MICB_ENST00000399150.3_Silent_p.L327L	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TTCAGCCTCTGATGTCAGCTA	0.577																																						uc003ntn.3		NaN																	0					0						c.(1108-1110)CTG>CTC		MHC class I polypeptide-related sequence B							101.0	106.0	105.0					6																	31477644		1281	2583	3864	SO:0001819	synonymous_variant	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31477644G>C		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.1110G>C	6.37:g.31477644G>C						MICB_uc011dnm.1_Silent_p.L338L|MICB_uc003nto.3_Silent_p.L327L	p.L370L	NM_005931	NP_005922	Q29980	MICB_HUMAN			6	1226	+			370			Cytoplasmic (Potential).			Silent	SNP	ENST00000252229.6	37	c.1110G>C	CCDS43449.1																																																																																				0.577	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3		NM_005931		39	54	0	0	0	0.203993	0	39	54		
CMTR1	23070	broad.mit.edu	37	6	37429339	37429339	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr6:37429339G>A	ENST00000373451.4	+	11	1274	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	CMTR1_ENST00000493656.1_3'UTR	NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	370	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)	p.E370D(1)									TCTCGGTGGAGGGGCAGGAGA	0.512																																						uc003ons.2		NaN																	1	Substitution - Missense(1)	p.E370D(1)	ovary(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(1108-1110)GAG>GAA		FtsJ methyltransferase domain containing 2							110.0	105.0	107.0					6																	37429339		2203	4300	6503	SO:0001819	synonymous_variant	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37429339G>A	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1110G>A	6.37:g.37429339G>A						FTSJD2_uc010jwu.2_Silent_p.E314E	p.E370E	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN			11	1363	+			370					A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	c.1110G>A	CCDS4835.1																																																																																				0.512	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1		NM_015050		5	31	0	0	0	0.184627	0	5	31		
MRPS10	55173	broad.mit.edu	37	6	42179605	42179605	+	Missense_Mutation	SNP	C	C	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr6:42179605C>G	ENST00000053468.3	-	4	252	c.237G>C	c.(235-237)ttG>ttC	p.L79F		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	79						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)			GACCTTTCACCAAAACCGAGA	0.363																																						uc003osa.3		NaN																	0					0						c.(235-237)TTG>TTC		mitochondrial ribosomal protein S10							105.0	103.0	104.0					6																	42179605		2203	4300	6503	SO:0001583	missense	55173				translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome	g.chr6:42179605C>G		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.237G>C	6.37:g.42179605C>G	ENSP00000053468:p.Leu79Phe					MRPS10_uc011dup.1_Missense_Mutation_p.L38F	p.L79F	NM_018141	NP_060611	P82664	RT10_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)		4	283	-	Colorectal(47;0.196)		79					B2RE89|Q9H3E5|Q9NVR3	Missense_Mutation	SNP	ENST00000053468.3	37	c.237G>C	CCDS4866.1	.	.	.	.	.	.	.	.	.	.	c	16.97	3.268933	0.59540	.	.	ENSG00000048544	ENST00000053468	.	.	.	5.78	1.81	0.25067	.	0.069936	0.56097	D	0.000021	T	0.58047	0.2095	M	0.72479	2.2	0.45452	D	0.998426	D	0.89917	1.0	D	0.87578	0.998	T	0.59343	-0.7472	9	0.62326	D	0.03	-11.7829	4.6855	0.12755	0.1428:0.3595:0.0:0.4977	.	79	P82664	RT10_HUMAN	F	79	.	ENSP00000053468:L79F	L	-	3	2	MRPS10	42287583	0.996000	0.38824	0.975000	0.42487	0.909000	0.53808	0.278000	0.18753	0.052000	0.16007	-0.285000	0.09966	TTG		0.363	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040547.1				28	48	0	0	0	0.108266	0	28	48		
HNRNPA2B1	3181	broad.mit.edu	37	7	26237281	26237281	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:26237281C>T	ENST00000354667.4	-	3	282	c.114G>A	c.(112-114)agG>agA	p.R38R	HNRNPA2B1_ENST00000356674.7_Silent_p.R26R	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	38	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CGTAGTAGTTCCTCAAACTTT	0.353			T	ETV1	prostate																																	uc003sxr.3		NaN		Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate		0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(112-114)AGG>AGA		heterogeneous nuclear ribonucleoprotein A2/B1							88.0	84.0	85.0					7																	26237281		2203	4300	6503	SO:0001819	synonymous_variant	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26237281C>T	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.114G>A	7.37:g.26237281C>T						HNRNPA2B1_uc003sxs.3_Silent_p.R26R	p.R38R	NM_031243	NP_112533	P22626	ROA2_HUMAN			3	330	-			38			RRM 1.		A8K064|P22627|Q9UC98|Q9UDJ2	Silent	SNP	ENST00000354667.4	37	c.114G>A	CCDS43557.1																																																																																				0.353	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1		NM_002137		15	54	0	0	0	0.160694	0	15	54		
GLI3	2737	broad.mit.edu	37	7	42005031	42005031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:42005031G>A	ENST00000395925.3	-	15	3724	c.3640C>T	c.(3640-3642)Cag>Tag	p.Q1214*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1214					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCGAGGGTCTGATAGCCCCCA	0.652									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NaN																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3640-3642)CAG>TAG		GLI-Kruppel family member GLI3							48.0	56.0	53.0					7																	42005031		2203	4300	6503	SO:0001587	stop_gained	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005031G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3640C>T	7.37:g.42005031G>A	ENSP00000379258:p.Gln1214*					GLI3_uc011kbg.1_Nonsense_Mutation_p.Q1155*	p.Q1214*	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3731	-			1214					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Nonsense_Mutation	SNP	ENST00000395925.3	37	c.3640C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	39	7.363857	0.98238	.	.	ENSG00000106571	ENST00000395925	.	.	.	5.7	2.89	0.33648	.	0.803221	0.11869	N	0.521607	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	11.1095	0.48223	0.0654:0.2419:0.6927:0.0	.	.	.	.	X	1214	.	ENSP00000379258:Q1214X	Q	-	1	0	GLI3	41971556	0.009000	0.17119	0.000000	0.03702	0.046000	0.14306	1.076000	0.30729	0.320000	0.23234	0.655000	0.94253	CAG		0.652	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3		NM_000168		47	69	0	0	0	0.124865	0	47	69		
CCM2	83605	broad.mit.edu	37	7	45108111	45108111	+	Missense_Mutation	SNP	C	C	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:45108111C>A	ENST00000258781.6	+	5	691	c.542C>A	c.(541-543)tCc>tAc	p.S181Y	CCM2_ENST00000475551.1_Missense_Mutation_p.S175Y|CCM2_ENST00000541586.1_Missense_Mutation_p.S123Y|CCM2_ENST00000381112.3_Missense_Mutation_p.S202Y|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_Intron	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	181	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGTGCAGGCTCCCTGTCGGAG	0.592																																						uc003tmo.2		NaN																	0					0						c.(541-543)TCC>TAC		cerebral cavernous malformation 2 isoform 2							101.0	94.0	96.0					7																	45108111		2203	4300	6503	SO:0001583	missense	83605	Familial_Cerebral_Cavernous_Angioma			endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45108111C>A	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.542C>A	7.37:g.45108111C>A	ENSP00000258781:p.Ser181Tyr					CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.S123Y|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Intron|CCM2_uc011kcb.1_Missense_Mutation_p.S144Y|CCM2_uc011kcc.1_Intron|CCM2_uc003tms.2_Missense_Mutation_p.S202Y	p.S181Y	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN			5	688	+			181			PID.		A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP	ENST00000258781.6	37	c.542C>A	CCDS5500.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.415897|4.415897	0.83449|0.83449	.|.	.|.	ENSG00000136280|ENSG00000136280	ENST00000480382|ENST00000258781;ENST00000541586;ENST00000475551;ENST00000381112	.|T;T;T;T	.|0.47177	.|0.85;0.85;0.85;0.85	4.74|4.74	4.74|4.74	0.60224|0.60224	.|Phosphotyrosine interaction domain (1);	.|0.120797	.|0.64402	.|D	.|0.000018	T|T	0.60919|0.60919	0.2306|0.2306	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P;P;P	.|0.67145	.|0.996;0.946;0.892;0.873	.|P;P;P;P	.|0.56514	.|0.8;0.628;0.542;0.502	T|T	0.66344|0.66344	-0.5947|-0.5947	5|10	.|0.72032	.|D	.|0.01	-5.3782|-5.3782	16.3218|16.3218	0.82953|0.82953	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|144;202;123;181	.|B7Z8D5;E9PDJ3;F5H551;Q9BSQ5	.|.;.;.;CCM2_HUMAN	T|Y	7|181;123;175;202	.|ENSP00000258781:S181Y;ENSP00000444725:S123Y;ENSP00000417180:S175Y;ENSP00000370503:S202Y	.|ENSP00000258781:S181Y	P|S	+|+	1|2	0|0	CCM2|CCM2	45074636|45074636	1.000000|1.000000	0.71417|0.71417	0.930000|0.930000	0.37139|0.37139	0.991000|0.991000	0.79684|0.79684	5.399000|5.399000	0.66314|0.66314	2.198000|2.198000	0.70561|0.70561	0.561000|0.561000	0.74099|0.74099	CCC|TCC		0.592	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1		NM_031443		46	62	1	0	6.1207e-33	0.131918	7.00107e-33	46	62		
POM121L12	285877	broad.mit.edu	37	7	53103824	53103824	+	Missense_Mutation	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:53103824C>T	ENST00000408890.4	+	1	476	c.460C>T	c.(460-462)Cct>Tct	p.P154S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	154										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTGGAGATCCCCTGGACAGAG	0.726																																						uc003tpz.2		NaN																	0					0						c.(460-462)CCT>TCT		POM121 membrane glycoprotein-like 12							15.0	19.0	17.0					7																	53103824		1884	4076	5960	SO:0001583	missense	285877							g.chr7:53103824C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.460C>T	7.37:g.53103824C>T	ENSP00000386133:p.Pro154Ser						p.P154S	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	476	+			154					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.460C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	5.912	0.352434	0.11182	.	.	ENSG00000221900	ENST00000408890	T	0.26660	1.72	1.16	0.153	0.14897	.	.	.	.	.	T	0.14098	0.0341	N	0.24115	0.695	0.09310	N	1	B	0.16603	0.018	B	0.14023	0.01	T	0.25813	-1.0121	9	0.39692	T	0.17	.	3.7987	0.08750	0.0:0.732:0.0:0.268	.	154	Q8N7R1	P1L12_HUMAN	S	154	ENSP00000386133:P154S	ENSP00000386133:P154S	P	+	1	0	POM121L12	53071318	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	-0.290000	0.08354	0.033000	0.15463	0.555000	0.69702	CCT		0.726	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1		NM_182595		13	27	0	0	0	0.09319	0	13	27		
MAGI2	9863	broad.mit.edu	37	7	78130897	78130897	+	Missense_Mutation	SNP	A	A	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:78130897A>G	ENST00000354212.4	-	5	1215	c.962T>C	c.(961-963)aTt>aCt	p.I321T	MAGI2_ENST00000536571.1_Missense_Mutation_p.I153T|MAGI2_ENST00000522391.1_Missense_Mutation_p.I321T|MAGI2_ENST00000419488.1_Missense_Mutation_p.I321T|MAGI2_ENST00000535697.1_Missense_Mutation_p.I158T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	321	Interaction with DDN.|WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AACTCACTCAATGAAGTAGAC	0.393																																						uc003ugx.2		NaN																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(961-963)ATT>ACT		membrane associated guanylate kinase, WW and PDZ							208.0	176.0	187.0					7																	78130897		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78130897A>G	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.962T>C	7.37:g.78130897A>G	ENSP00000346151:p.Ile321Thr					MAGI2_uc003ugy.2_Missense_Mutation_p.I321T|MAGI2_uc011kgr.1_Missense_Mutation_p.I153T|MAGI2_uc011kgs.1_Missense_Mutation_p.I158T	p.I321T	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			5	1216	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	321			WW 1.|Interaction with DDN.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.962T>C	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432310	0.83776	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.96	5.96	0.96718	WW/Rsp5/WWP (5);	0.000000	0.36893	U	0.002346	D	0.95245	0.8458	H	0.97265	3.97	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.997	D;D;D;D	0.80764	0.991;0.979;0.994;0.994	D	0.96801	0.9589	10	0.87932	D	0	.	15.6296	0.76893	1.0:0.0:0.0:0.0	.	158;153;321;321	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	T	321;321;321;321;153;158	ENSP00000405766:I321T;ENSP00000346151:I321T;ENSP00000428389:I321T;ENSP00000441584:I153T;ENSP00000441603:I158T	ENSP00000346151:I321T	I	-	2	0	MAGI2	77968833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.285000	0.76669	0.533000	0.62120	ATT		0.393	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3		NM_012301		17	67	0	0	0	0.146539	0	17	67		
PCLO	27445	broad.mit.edu	37	7	82580339	82580339	+	Missense_Mutation	SNP	C	C	T	rs549114733	byFrequency	TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:82580339C>T	ENST00000333891.9	-	6	9902	c.9565G>A	c.(9565-9567)Gaa>Aaa	p.E3189K	PCLO_ENST00000423517.2_Missense_Mutation_p.E3189K|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAAACACTTCGGATGCTGTG	0.443													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20665	0.0		0.0	False		,,,				2504	0.0					uc003uhx.2		NaN																	0				ovary(7)	7						c.(9565-9567)GAA>AAA		piccolo isoform 1							51.0	48.0	49.0					7																	82580339		1899	4138	6037	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580339C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9565G>A	7.37:g.82580339C>T	ENSP00000334319:p.Glu3189Lys					PCLO_uc003uhv.2_Missense_Mutation_p.E3189K|PCLO_uc010lec.2_Missense_Mutation_p.E154K	p.E3189K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	9854	-			3120						Missense_Mutation	SNP	ENST00000333891.9	37	c.9565G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932324	0.34096	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16743	2.32;2.32	5.57	5.57	0.84162	.	.	.	.	.	T	0.18923	0.0454	M	0.61703	1.905	0.80722	D	1	P;P;P	0.43909	0.555;0.821;0.821	B;B;B	0.29524	0.057;0.103;0.103	T	0.07731	-1.0757	9	0.87932	D	0	.	19.1309	0.93406	0.0:1.0:0.0:0.0	.	3120;3189;3189	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	3120;3189;3189	ENSP00000334319:E3189K;ENSP00000388393:E3189K	ENSP00000334319:E3189K	E	-	1	0	PCLO	82418275	0.998000	0.40836	0.914000	0.36105	0.733000	0.41908	4.362000	0.59467	2.627000	0.88993	0.467000	0.42956	GAA		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		12	18	0	0	0	0.080935	0	12	18		
ADAM22	53616	broad.mit.edu	37	7	87762258	87762258	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:87762258G>A	ENST00000265727.7	+	12	1148	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	ADAM22_ENST00000398209.3_Missense_Mutation_p.V357M|ADAM22_ENST00000315984.7_Missense_Mutation_p.V357M|ADAM22_ENST00000398204.4_Missense_Mutation_p.V357M|ADAM22_ENST00000398201.4_Missense_Mutation_p.V357M			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	357	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AGGAGGAGGCGTGAATGAAGT	0.398																																						uc003ujn.2		NaN																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(1069-1071)GTG>ATG		ADAM metallopeptidase domain 22 isoform 1							192.0	204.0	200.0					7																	87762258		2102	4244	6346	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87762258G>A	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1069G>A	7.37:g.87762258G>A	ENSP00000265727:p.Val357Met					ADAM22_uc003ujk.1_Missense_Mutation_p.V357M|ADAM22_uc003ujl.1_Missense_Mutation_p.V357M|ADAM22_uc003ujm.2_Missense_Mutation_p.V357M|ADAM22_uc003ujo.2_Missense_Mutation_p.V357M|ADAM22_uc003ujp.1_Missense_Mutation_p.V409M	p.V357M	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		12	1148	+	Esophageal squamous(14;0.00202)		357			Peptidase M12B.|Extracellular (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.1069G>A	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046906	0.75846	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.43	4.53	0.55603	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.125508	0.52532	D	0.000062	D	0.84911	0.5577	M	0.82433	2.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.994;0.998;1.0	D	0.87477	0.2418	10	0.87932	D	0	.	15.3955	0.74790	0.0:0.0:0.8595:0.1405	.	409;357;357;357	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	M	357;357;357;357;357;324	ENSP00000381262:V357M;ENSP00000381260:V357M;ENSP00000265727:V357M;ENSP00000315900:V357M;ENSP00000381267:V357M;ENSP00000381261:V324M	ENSP00000265727:V357M	V	+	1	0	ADAM22	87600194	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.017000	0.76399	1.256000	0.44068	0.655000	0.94253	GTG		0.398	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2		NM_021723		5	70	0	0	0	0.248553	0	5	70		
ACTL6B	51412	broad.mit.edu	37	7	100244899	100244899	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:100244899G>A	ENST00000160382.5	-	9	874	c.768C>T	c.(766-768)atC>atT	p.I256I		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	256					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGAAGTCCTGGATCACCTCCT	0.672																																						uc003uvy.2		NaN																	0				ovary(1)	1						c.(766-768)ATC>ATT		actin-like 6B							66.0	61.0	63.0					7																	100244899		2203	4300	6503	SO:0001819	synonymous_variant	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100244899G>A	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.768C>T	7.37:g.100244899G>A						ACTL6B_uc003uvx.1_Silent_p.I47I|ACTL6B_uc003uvz.2_RNA	p.I256I	NM_016188	NP_057272	O94805	ACL6B_HUMAN			9	875	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		256					A4D2D0|O75421	Silent	SNP	ENST00000160382.5	37	c.768C>T	CCDS5702.1																																																																																				0.672	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1		NM_016188		22	23	0	0	0	0.249174	0	22	23		
GPR37	2861	broad.mit.edu	37	7	124386891	124386891	+	Missense_Mutation	SNP	G	G	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:124386891G>C	ENST00000303921.2	-	2	2180	c.1530C>G	c.(1528-1530)atC>atG	p.I510M		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	510					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAATGTTGCAGATATTTTCAG	0.418																																						uc003vli.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1528-1530)ATC>ATG		G protein-coupled receptor 37 precursor							112.0	106.0	108.0					7																	124386891		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124386891G>C		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1530C>G	7.37:g.124386891G>C	ENSP00000306449:p.Ile510Met						p.I510M	NM_005302	NP_005293	O15354	GPR37_HUMAN			2	2181	-			510			Helical; Name=6; (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1530C>G	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617660	0.46736	.	.	ENSG00000170775	ENST00000303921	T	0.76316	-1.01	5.62	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.79753	0.4500	L	0.34521	1.04	0.40651	D	0.982033	D	0.67145	0.996	D	0.75020	0.985	T	0.79818	-0.1643	10	0.87932	D	0	-30.0081	8.5885	0.33672	0.3009:0.0:0.6991:0.0	.	510	O15354	GPR37_HUMAN	M	510	ENSP00000306449:I510M	ENSP00000306449:I510M	I	-	3	3	GPR37	124174127	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.889000	0.48601	0.739000	0.32628	0.655000	0.94253	ATC		0.418	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1		NM_005302		22	72	0	0	0	0.234183	0	22	72		
ZNF862	643641	broad.mit.edu	37	7	149558351	149558351	+	Missense_Mutation	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:149558351T>C	ENST00000223210.4	+	7	2347	c.2102T>C	c.(2101-2103)aTg>aCg	p.M701T	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	701					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GGCTCAGCCATGTTGAGCTGC	0.632																																						uc010lpn.2		NaN																	0				skin(1)	1						c.(2101-2103)ATG>ACG		zinc finger protein 862							19.0	21.0	20.0					7																	149558351		2084	4188	6272	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149558351T>C	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2102T>C	7.37:g.149558351T>C	ENSP00000223210:p.Met701Thr					ZNF862_uc003wgm.2_RNA	p.M701T	NM_001099220	NP_001092690	O60290	ZN862_HUMAN			7	2294	+			701					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.2102T>C	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	T	8.171	0.791712	0.16258	.	.	ENSG00000106479	ENST00000223210	T	0.21031	2.03	5.28	2.82	0.32997	Ribonuclease H-like (1);	0.086077	0.50627	D	0.000114	T	0.15176	0.0366	L	0.42245	1.32	0.27586	N	0.949448	B	0.09022	0.002	B	0.04013	0.001	T	0.24905	-1.0147	10	0.21540	T	0.41	-20.2325	7.2166	0.25963	0.0:0.1803:0.0:0.8197	.	701	O60290	ZN862_HUMAN	T	701	ENSP00000223210:M701T	ENSP00000223210:M701T	M	+	2	0	ZNF862	149189284	0.575000	0.26692	0.704000	0.30370	0.910000	0.53928	0.444000	0.21661	0.305000	0.22832	0.533000	0.62120	ATG		0.632	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1		NM_001099220		3	11	0	0	0	0.115264	0	3	11		
NUB1	51667	broad.mit.edu	37	7	151042482	151042482	+	Missense_Mutation	SNP	G	G	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr7:151042482G>T	ENST00000355851.4	+	2	124	c.47G>T	c.(46-48)aGg>aTg	p.R16M	NUB1_ENST00000566856.1_Missense_Mutation_p.R16M|NUB1_ENST00000568733.1_Missense_Mutation_p.R40M|NUB1_ENST00000413040.2_Missense_Mutation_p.R40M	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	16					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CAGTTTTTAAGGGAAGACAGG	0.303																																						uc003wjx.2		NaN																	0					0						c.(118-120)AGG>ATG		NEDD8 ultimate buster-1							57.0	55.0	56.0					7																	151042482		1810	4077	5887	SO:0001583	missense	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151042482G>T	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.47G>T	7.37:g.151042482G>T	ENSP00000348110:p.Arg16Met					NUB1_uc011kvi.1_Missense_Mutation_p.R40M|NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Missense_Mutation_p.R16M|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA	p.R40M	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	2	124	+			16					O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37	c.119G>T		.	.	.	.	.	.	.	.	.	.	G	19.14	3.769903	0.69992	.	.	ENSG00000013374	ENST00000413040;ENST00000355851;ENST00000470229;ENST00000490215;ENST00000483358	T;T;T	0.45276	0.9;0.9;0.9	5.56	4.69	0.59074	.	0.047139	0.85682	D	0.000000	T	0.62344	0.2420	M	0.72894	2.215	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.969;0.986	T	0.66160	-0.5993	10	0.87932	D	0	-16.9725	12.3725	0.55261	0.0816:0.0:0.9184:0.0	.	16;16;16	F8WDL9;Q9Y5A7;Q9Y5A7-2	.;NUB1_HUMAN;.	M	16	ENSP00000348110:R16M;ENSP00000418234:R16M;ENSP00000420086:R16M	ENSP00000348110:R16M	R	+	2	0	NUB1	150673415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.724000	0.68500	1.353000	0.45828	0.655000	0.94253	AGG		0.303	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_016118		9	21	1	0	2.17888e-05	0.058154	2.24613e-05	9	21		
SGK223	157285	broad.mit.edu	37	8	8235550	8235550	+	Silent	SNP	C	C	T			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr8:8235550C>T	ENST00000520004.1	-	3	633	c.369G>A	c.(367-369)ccG>ccA	p.P123P	SGK223_ENST00000330777.4_Silent_p.P123P			Q86YV5	SG223_HUMAN		123							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CCTCCTGCTTCGGGAGGGGGA	0.552																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NaN																	0					0						c.(367-369)CCG>CCA		pragmin							49.0	51.0	51.0					8																	8235550		1917	4119	6036	SO:0001819	synonymous_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8235550C>T																												ENST00000520004.1:c.369G>A	8.37:g.8235550C>T							p.P123P	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			2	369	-			123					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.369G>A	CCDS43706.1																																																																																				0.552	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1				36	19	0	0	0	0.203993	0	36	19		
TEX15	56154	broad.mit.edu	37	8	30702216	30702216	+	Missense_Mutation	SNP	C	C	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr8:30702216C>A	ENST00000256246.2	-	1	4392	c.4318G>T	c.(4318-4320)Gat>Tat	p.D1440Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1440					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTACATTATCTTTTAAAAGC	0.348																																						uc003xil.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(4318-4320)GAT>TAT		testis expressed 15							71.0	69.0	70.0					8																	30702216		2203	4299	6502	SO:0001583	missense	56154							g.chr8:30702216C>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4318G>T	8.37:g.30702216C>A	ENSP00000256246:p.Asp1440Tyr						p.D1440Y	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4318	-			1440						Missense_Mutation	SNP	ENST00000256246.2	37	c.4318G>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696640	0.30142	.	.	ENSG00000133863	ENST00000256246	T	0.10860	2.83	5.5	2.63	0.31362	.	0.616688	0.15372	N	0.265779	T	0.14960	0.0361	L	0.31926	0.97	0.09310	N	1	D	0.65815	0.995	P	0.58873	0.847	T	0.11131	-1.0600	10	0.87932	D	0	.	4.5228	0.11968	0.1576:0.6058:0.1523:0.0843	.	1440	Q9BXT5	TEX15_HUMAN	Y	1440	ENSP00000256246:D1440Y	ENSP00000256246:D1440Y	D	-	1	0	TEX15	30821758	0.007000	0.16637	0.038000	0.18304	0.250000	0.25880	0.356000	0.20181	0.319000	0.23209	0.650000	0.86243	GAT		0.348	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1				8	28	1	0	0.000157383	0.038147	0.000160262	8	28		
PRKDC	5591	broad.mit.edu	37	8	48690396	48690396	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr8:48690396G>A	ENST00000314191.2	-	85	11946	c.11890C>T	c.(11890-11892)Cgc>Tgc	p.R3964C	PRKDC_ENST00000338368.3_Missense_Mutation_p.R3933C|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3965	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATAAACTGGCGAGTTAGCCGA	0.483								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NaN																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(11893-11895)CGC>TGC	NHEJ	protein kinase, DNA-activated, catalytic							88.0	90.0	89.0					8																	48690396		2009	4195	6204	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48690396G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11890C>T	8.37:g.48690396G>A	ENSP00000313420:p.Arg3964Cys					PRKDC_uc003xqj.2_Missense_Mutation_p.R3934C|PRKDC_uc011ldh.1_Intron	p.R3965C	NM_006904	NP_008835	P78527	PRKDC_HUMAN			85	11950	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3965			PI3K/PI4K.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.11893C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.471572|5.471572	0.96274|0.96274	.|.	.|.	ENSG00000253729|ENSG00000253729	ENST00000314191;ENST00000338368|ENST00000536429	D;D|.	0.83673|.	-1.75;-1.75|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);|.	0.168292|.	0.56097|.	D|.	0.000033|.	D|D	0.88403|0.88403	0.6427|0.6427	H|H	0.96111|0.96111	3.77|3.77	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.71414|.	0.973;0.973|.	D|D	0.91666|0.91666	0.5346|0.5346	10|5	0.87932|.	D|.	0|.	.|.	19.5825|19.5825	0.95473|0.95473	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3933;3965|.	E7EUY0;P78527|.	.;PRKDC_HUMAN|.	C|L	3964;3933|40	ENSP00000313420:R3964C;ENSP00000345182:R3933C|.	ENSP00000313420:R3964C|.	R|S	-|-	1|2	0|0	PRKDC|PRKDC	48852949|48852949	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.860000|0.860000	0.49131|0.49131	7.469000|7.469000	0.80959|0.80959	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.483	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640		14	73	0	0	0	0.105934	0	14	73		
SHB	6461	broad.mit.edu	37	9	37955959	37955959	+	Missense_Mutation	SNP	G	G	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr9:37955959G>C	ENST00000377707.3	-	4	1712	c.1147C>G	c.(1147-1149)Cct>Gct	p.P383A	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	383	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TGTTTGATAGGCTTAAAGCCC	0.597																																						uc004aax.2		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(1147-1149)CCT>GCT		Src homology 2 domain containing adaptor protein							36.0	37.0	37.0					9																	37955959		1877	4091	5968	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:37955959G>C		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1147C>G	9.37:g.37955959G>C	ENSP00000366936:p.Pro383Ala						p.P383A	NM_003028	NP_003019	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	4	1715	-		all_epithelial(88;0.122)	383			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.1147C>G	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968323	0.53614	.	.	ENSG00000107338	ENST00000377707	T	0.27720	1.65	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000019	T	0.31638	0.0803	L	0.31926	0.97	0.80722	D	1	P	0.46656	0.882	P	0.46796	0.527	T	0.01334	-1.1382	10	0.26408	T	0.33	-16.3682	16.9718	0.86302	0.0:0.0:1.0:0.0	.	383	Q15464	SHB_HUMAN	A	383	ENSP00000366936:P383A	ENSP00000366936:P383A	P	-	1	0	SHB	37945959	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.310000	0.89971	2.607000	0.88179	0.462000	0.41574	CCT		0.597	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1				5	2	0	0	0	0.184627	0	5	2		
KIAA0368	23392	broad.mit.edu	37	9	114151916	114151916	+	Missense_Mutation	SNP	G	G	T	rs374055651		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr9:114151916G>T	ENST00000338205.5	-	30	3586	c.3367C>A	c.(3367-3369)Cgt>Agt	p.R1123S	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.R1301S			Q5VYK3	ECM29_HUMAN	KIAA0368	1129					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AACTGGTAACGATAAAGTCGA	0.453																																						uc004bfe.1		NaN																	0					0						c.(3901-3903)CGT>AGT		KIAA0368 protein							76.0	75.0	75.0					9																	114151916		1941	4148	6089	SO:0001583	missense	23392							g.chr9:114151916G>T	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3367C>A	9.37:g.114151916G>T	ENSP00000339889:p.Arg1123Ser						p.R1301S	NM_001080398	NP_001073867					32	3901	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.3901C>A		.	.	.	.	.	.	.	.	.	.	G	32	5.134531	0.94517	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.37915	1.17	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77245	-0.2659	10	0.87932	D	0	.	19.4063	0.94648	0.0:0.0:1.0:0.0	.	598	B3KXF2	.	S	1123;1301;598	ENSP00000259335:R1301S	ENSP00000259335:R1301S	R	-	1	0	KIAA0368	113191737	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.318000	0.79029	2.569000	0.86673	0.655000	0.94253	CGT		0.453	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2		NM_014686		17	23	1	0	2.23348e-06	0.146539	2.31672e-06	17	23		
SLC46A2	57864	broad.mit.edu	37	9	115652599	115652599	+	Silent	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr9:115652599G>A	ENST00000374228.4	-	1	594	c.363C>T	c.(361-363)ctC>ctT	p.L121L		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	121					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GCAGCAGCCCGAGGCGGGAGA	0.677																																						uc004bgk.2		NaN																	0				central_nervous_system(1)	1						c.(361-363)CTC>CTT		solute carrier family 46, member 2							45.0	50.0	48.0					9																	115652599		2201	4294	6495	SO:0001819	synonymous_variant	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652599G>A	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.363C>T	9.37:g.115652599G>A							p.L121L	NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN			1	595	-			121			Helical; Name=3; (Potential).		B1ALK1|Q86VT0|Q96NE2	Silent	SNP	ENST00000374228.4	37	c.363C>T	CCDS6786.1																																																																																				0.677	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1		NM_033051		28	12	0	0	0	0.099896	0	28	12		
ARHGAP6	395	broad.mit.edu	37	X	11206894	11206894	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chrX:11206894G>A	ENST00000337414.4	-	4	1903	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.S141L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.S344L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.S141L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.S376L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.S153L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.S169L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	344					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGGGGACGTTGACTCATTCGG	0.498																																						uc004cup.1		NaN																	0				urinary_tract(1)|lung(1)	2						c.(1030-1032)TCA>TTA		Rho GTPase activating protein 6 isoform 1							136.0	109.0	118.0					X																	11206894		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11206894G>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1031C>T	X.37:g.11206894G>A	ENSP00000338967:p.Ser344Leu					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.S344L|ARHGAP6_uc004cum.1_Missense_Mutation_p.S141L|ARHGAP6_uc004cun.1_Missense_Mutation_p.S164L|ARHGAP6_uc010neb.1_Missense_Mutation_p.S166L|ARHGAP6_uc011mif.1_Missense_Mutation_p.S141L	p.S344L	NM_013427	NP_038286	O43182	RHG06_HUMAN			4	1904	-			344			SH3-binding.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1031C>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138482	0.56936	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.24151	1.88;1.89;1.89;1.88;1.88;1.87;1.94;1.96	5.49	3.53	0.40419	.	0.000000	0.47093	D	0.000247	T	0.20981	0.0505	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B	0.15473	0.001;0.004;0.004;0.006;0.013	B;B;B;B;B	0.15870	0.001;0.006;0.006;0.014;0.014	T	0.02877	-1.1099	10	0.56958	D	0.05	.	11.3122	0.49370	0.161:0.0:0.839:0.0	.	153;141;344;344;344	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	L	169;141;141;344;180;344;153;376	ENSP00000438135:S169L;ENSP00000370112:S141L;ENSP00000302312:S141L;ENSP00000338967:S344L;ENSP00000370093:S180L;ENSP00000370094:S344L;ENSP00000389394:S153L;ENSP00000370108:S376L	ENSP00000302312:S141L	S	-	2	0	ARHGAP6	11116815	1.000000	0.71417	0.909000	0.35828	0.989000	0.77384	3.211000	0.51137	0.372000	0.24591	0.600000	0.82982	TCA		0.498	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2		NM_013427		19	40	0	0	0	0.204396	0	19	40		
FAM47B	170062	broad.mit.edu	37	X	34960988	34960988	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chrX:34960988G>A	ENST00000329357.5	+	1	76	c.40G>A	c.(40-42)Ggc>Agc	p.G14S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	14										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAGGTCCCAAGGCATGGACTC	0.622																																						uc004ddi.1		NaN																	0				ovary(3)|breast(1)	4						c.(40-42)GGC>AGC		hypothetical protein LOC170062							31.0	26.0	27.0					X																	34960988		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34960988G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.40G>A	X.37:g.34960988G>A	ENSP00000328307:p.Gly14Ser						p.G14S	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	58	+			14					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.40G>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076678	0.36662	.	.	ENSG00000189132	ENST00000329357	T	0.24350	1.86	0.843	0.843	0.18935	.	.	.	.	.	T	0.45236	0.1332	M	0.72118	2.19	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.16424	-1.0403	8	0.48119	T	0.1	.	.	.	.	.	14	Q8NA70	FA47B_HUMAN	S	14	ENSP00000328307:G14S	ENSP00000328307:G14S	G	+	1	0	FAM47B	34870909	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	0.364000	0.20325	0.695000	0.31675	0.292000	0.19580	GGC		0.622	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1		NM_152631		5	20	0	0	0	0.184627	0	5	20		
SPIN4	139886	broad.mit.edu	37	X	62570455	62570455	+	Missense_Mutation	SNP	C	C	G			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chrX:62570455C>G	ENST00000335144.3	-	1	763	c.244G>C	c.(244-246)Gat>Cat	p.D82H	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_Missense_Mutation_p.D64H	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	82					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						TACACACTATCTTTGCCATCA	0.498																																						uc004dvf.2		NaN																	0				ovary(1)|lung(1)	2						c.(244-246)GAT>CAT		spindlin family, member 4							46.0	44.0	45.0					X																	62570455		1986	4146	6132	SO:0001583	missense	139886				gamete generation			g.chrX:62570455C>G	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.244G>C	X.37:g.62570455C>G	ENSP00000334163:p.Asp82His						p.D82H	NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN			1	764	-			82					B3KX90|Q5JUL2	Missense_Mutation	SNP	ENST00000335144.3	37	c.244G>C	CCDS43964.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.222588	0.79464	.	.	ENSG00000186767	ENST00000374884;ENST00000335144	T;T	0.50277	0.75;0.75	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	M	0.83012	2.62	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.76058	-0.3098	10	0.87932	D	0	-23.8209	14.4289	0.67236	0.0:1.0:0.0:0.0	.	82	Q56A73	SPIN4_HUMAN	H	64;82	ENSP00000364018:D64H;ENSP00000334163:D82H	ENSP00000334163:D82H	D	-	1	0	SPIN4	62487180	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.428000	0.73383	2.203000	0.70933	0.422000	0.28245	GAT		0.498	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001012968		4	17	0	0	0	0.150653	0	4	17		
MED12	9968	broad.mit.edu	37	X	70349240	70349240	+	Missense_Mutation	SNP	G	G	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chrX:70349240G>A	ENST00000374080.3	+	26	3684	c.3652G>A	c.(3652-3654)Gga>Aga	p.G1218R	MED12_ENST00000374102.1_Missense_Mutation_p.G1218R|MED12_ENST00000333646.6_Missense_Mutation_p.G1218R			Q93074	MED12_HUMAN	mediator complex subunit 12	1218					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CATCGTGGATGGAGCCGTGTT	0.577			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dyy.2		NaN		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(3652-3654)GGA>AGA		mediator complex subunit 12							53.0	55.0	54.0					X																	70349240		2089	4203	6292	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349240G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3652G>A	X.37:g.70349240G>A	ENSP00000363193:p.Gly1218Arg		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_uc011mpq.1_Missense_Mutation_p.G1218R|MED12_uc004dyz.2_Missense_Mutation_p.G1218R|MED12_uc004dza.2_Missense_Mutation_p.G1065R|MED12_uc010nla.2_5'Flank	p.G1218R	NM_005120	NP_005111	Q93074	MED12_HUMAN			26	3851	+	Renal(35;0.156)		1218					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3652G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.477289	0.84640	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.981;0.994;0.996	T	0.59516	-0.7440	10	0.87932	D	0	-9.1887	17.7452	0.88419	0.0:0.0:1.0:0.0	.	1218;1065;1218;1218	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	R	1218;1218;1218;1218;1186	ENSP00000333125:G1218R;ENSP00000363215:G1218R;ENSP00000363193:G1218R;ENSP00000414203:G1186R	ENSP00000333125:G1218R	G	+	1	0	MED12	70265965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.465000	0.83290	0.529000	0.55759	GGA		0.577	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		NM_005120		7	20	0	0	0	0.248553	0	7	20		
SMARCA1	6594	broad.mit.edu	37	X	128638781	128638781	+	Splice_Site	SNP	T	T	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chrX:128638781T>C	ENST00000371122.4	-	9	1228		c.e9-2		SMARCA1_ENST00000371121.3_Splice_Site|SMARCA1_ENST00000371123.1_Splice_Site	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATCAAAGTCCTGTAGAGGGGT	0.343																																						uc004eun.3		NaN																	0				ovary(3)|skin(1)	4						c.e9-1		SWI/SNF-related matrix-associated							112.0	108.0	109.0					X																	128638781		2203	4300	6503	SO:0001630	splice_region_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128638781T>C	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1099-2A>G	X.37:g.128638781T>C						SMARCA1_uc004eup.3_Splice_Site_p.D367_splice|SMARCA1_uc011muk.1_Splice_Site_p.D367_splice|SMARCA1_uc011mul.1_Splice_Site_p.D367_splice	p.D367_splice	NM_003069	NP_003060	P28370	SMCA1_HUMAN			9	1212	-								Q5JV41|Q5JV42	Splice_Site	SNP	ENST00000371122.4	37	c.1099_splice	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.789124	0.70337	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7706	0.57419	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMARCA1	128466462	1.000000	0.71417	0.993000	0.49108	0.840000	0.47671	7.635000	0.83286	1.728000	0.51552	0.350000	0.21858	.		0.343	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1		NM_003069	Intron	26	36	0	0	0	0.083992	0	26	36		
CETN2	1069	broad.mit.edu	37	X	151997114	151997114	+	Missense_Mutation	SNP	C	C	A			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chrX:151997114C>A	ENST00000370277.3	-	4	462	c.396G>T	c.(394-396)gaG>gaT	p.E132D	NSDHL_ENST00000370274.3_5'Flank|CETN2_ENST00000493482.1_5'UTR|NSDHL_ENST00000440023.1_5'Flank	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	132	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)|regulation of cytokinesis (GO:0032465)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|intracellular (GO:0005622)|photoreceptor connecting cilium (GO:0032391)|XPC complex (GO:0071942)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCACCCAACTCCTTGGCCA	0.418								Direct reversal of damage;Nucleotide excision repair (NER)																														uc004fgq.2		NaN																	0					0						c.(394-396)GAG>GAT	Direct_reversal_of_damage|NER	caltractin							140.0	122.0	128.0					X																	151997114		2203	4300	6503	SO:0001583	missense	1069				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chrX:151997114C>A	X72964	CCDS14716.1	Xq28	2013-01-10			ENSG00000147400	ENSG00000147400		"""EF-hand domain containing"""	1867	protein-coding gene	gene with protein product		300006		CALT		7713520, 8597638	Standard	NM_004344		Approved	CEN2	uc004fgq.3	P41208	OTTHUMG00000024246	ENST00000370277.3:c.396G>T	X.37:g.151997114C>A	ENSP00000359300:p.Glu132Asp					CETN2_uc004fgr.2_Missense_Mutation_p.E61D|NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank	p.E132D	NM_004344	NP_004335	P41208	CETN2_HUMAN			4	443	-	Acute lymphoblastic leukemia(192;6.56e-05)		132			EF-hand 3.		B2R4T4|Q53XW1	Missense_Mutation	SNP	ENST00000370277.3	37	c.396G>T	CCDS14716.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294988	0.81025	.	.	ENSG00000147400	ENST00000370277	T	0.77750	-1.12	6.17	3.47	0.39725	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	L	0.33753	1.03	0.80722	D	1	B	0.22480	0.07	B	0.32762	0.152	T	0.64317	-0.6436	10	0.59425	D	0.04	.	8.4928	0.33110	0.0:0.7451:0.0:0.2549	.	132	P41208	CETN2_HUMAN	D	132	ENSP00000359300:E132D	ENSP00000359300:E132D	E	-	3	2	CETN2	151747770	0.994000	0.37717	0.936000	0.37596	0.996000	0.88848	0.686000	0.25392	0.720000	0.32209	0.600000	0.82982	GAG		0.418	CETN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061197.1		NM_004344		28	35	1	0	1.68575e-08	0.125774	1.79313e-08	28	35		
SIDT2	51092	broad.mit.edu	37	11	117064644	117064645	+	In_Frame_Ins	INS	-	-	TCT	rs369807521		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr11:117064644_117064645insTCT	ENST00000324225.4	+	24	2818_2819	c.2287_2288insTCT	c.(2287-2289)ctc>cTCTtc	p.767_768insF	SIDT2_ENST00000532062.1_In_Frame_Ins_p.59_60insF|SIDT2_ENST00000431081.2_In_Frame_Ins_p.764_765insF	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	767	Poly-Phe.				cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGGCTTCGCGCTCTTCTTCTTC	0.604																																						uc001pqh.1		NaN																	0					0						c.(2287-2289)CTC>CTCTTC		SID1 transmembrane family, member 2 precursor																																				SO:0001652	inframe_insertion	51092					integral to membrane|lysosomal membrane		g.chr11:117064644_117064645insTCT	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2297_2299dupTCT	11.37:g.117064651_117064653dupTCT	ENSP00000314023:p.Phe767_Phe767dup					SIDT2_uc010rxe.1_In_Frame_Ins_p.767_768insF|SIDT2_uc001pqg.2_In_Frame_Ins_p.788_789insF|SIDT2_uc001pqi.1_In_Frame_Ins_p.764_765insF|SIDT2_uc001pqj.1_In_Frame_Ins_p.79_80insF	p.767_768insF	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	24	2328_2329	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	767_768			Cytoplasmic (Potential).		Q8NBY7|Q9Y357	In_Frame_Ins	INS	ENST00000324225.4	37	c.2287_2288insTCT	CCDS31682.1																																																																																				0.604	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1		NM_015996		20	26	NaN	NaN	NaN	NaN	NaN	20	26	---	---
ZC3H18	124245	broad.mit.edu	37	16	88666210	88666211	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr16:88666210_88666211insGC	ENST00000301011.5	+	6	1142_1143	c.942_943insGC	c.(943-945)gcafs	p.A315fs	ZC3H18_ENST00000452588.2_Frame_Shift_Ins_p.A339fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	315						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TTTTAAAAAAAGCAACTATTCG	0.431																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2		NaN																	0				skin(1)	1						c.(940-945)AAAGCAfs		zinc finger CCCH-type containing 18																																				SO:0001589	frameshift_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88666210_88666211insGC	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.943_944dupGC	16.37:g.88666211_88666212dupGC	ENSP00000301011:p.Ala315fs					ZC3H18_uc010voy.1_Frame_Shift_Ins_p.K197fs|ZC3H18_uc010voz.1_Frame_Shift_Ins_p.K338fs	p.K314fs	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	6	1142_1143	+			314_315					Q96DG4|Q96MP7	Frame_Shift_Ins	INS	ENST00000301011.5	37	c.942_943insGC	CCDS10967.1																																																																																				0.431	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1		NM_144604		38	121	NaN	NaN	NaN	NaN	NaN	38	121	---	---
ZDBF2	57683	broad.mit.edu	37	2	207169788	207169789	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:207169788_207169789insC	ENST00000374423.3	+	5	922_923	c.536_537insC	c.(535-540)cgccccfs	p.RP179fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	179							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACTTGGTACGCCCCCCAGTGA	0.426																																						uc002vbp.2		NaN																	0				ovary(3)	3						c.(535-537)CGCfs		zinc finger, DBF-type containing 2																																				SO:0001589	frameshift_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207169788_207169789insC	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.542dupC	2.37:g.207169794_207169794dupC	ENSP00000363545:p.Arg179fs						p.R179fs	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	786_787	+			179					Q6ZNP7|Q6ZSN8	Frame_Shift_Ins	INS	ENST00000374423.3	37	c.536_537insC	CCDS46501.1																																																																																				0.426	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1		NM_020923		18	24	NaN	NaN	NaN	NaN	NaN	18	24	---	---
RHBDD1	84236	broad.mit.edu	37	2	227779059	227779059	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr2:227779059delG	ENST00000341329.3	+	6	1090	c.848delG	c.(847-849)tggfs	p.W283fs	RHBDD1_ENST00000409053.1_Frame_Shift_Del_p.W117fs|RHBDD1_ENST00000493526.1_3'UTR|RHBDD1_ENST00000392062.2_Frame_Shift_Del_p.W283fs	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	283	Ubiquitin-binding domain (UBD). {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GCCAGCCTCTGGGACCGAGGT	0.443																																						uc002voi.2		NaN																	0				ovary(1)	1						c.(847-849)TGGfs		rhomboid domain containing 1							66.0	70.0	69.0					2																	227779059		2203	4300	6503	SO:0001589	frameshift_variant	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227779059delG	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.848delG	2.37:g.227779059delG	ENSP00000344779:p.Trp283fs					RHBDD1_uc010fxc.2_Frame_Shift_Del_p.W283fs|RHBDD1_uc002voj.2_Frame_Shift_Del_p.W114fs	p.W283fs	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	6	969	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	283					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Frame_Shift_Del	DEL	ENST00000341329.3	37	c.848delG	CCDS2464.1																																																																																				0.443	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2				21	24	NaN	NaN	NaN	NaN	NaN	21	24	---	---
FBXO38	81545	broad.mit.edu	37	5	147781970	147781974	+	Frame_Shift_Del	DEL	TCATA	TCATA	-			TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr5:147781970_147781974delTCATA	ENST00000340253.5	+	5	654_658	c.486_490delTCATA	c.(484-492)gttcatattfs	p.HI163fs	FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Frame_Shift_Del_p.HI163fs|FBXO38_ENST00000394370.3_Frame_Shift_Del_p.HI163fs|FBXO38_ENST00000296701.6_Frame_Shift_Del_p.HI163fs			Q6PIJ6	FBX38_HUMAN	F-box protein 38	163					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCCATGTTCATATTTTGGGGAA	0.346																																						uc003lpf.1		NaN																	0				ovary(4)|skin(2)	6						c.(484-492)GTTCATATTfs		F-box protein 38 isoform b																																				SO:0001589	frameshift_variant	81545					cytoplasm|nucleus		g.chr5:147781970_147781974delTCATA	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.486_490delTCATA	5.37:g.147781970_147781974delTCATA	ENSP00000342023:p.His163fs					FBXO38_uc003lpg.1_Frame_Shift_Del_p.V162fs|FBXO38_uc003lph.2_Frame_Shift_Del_p.V162fs	p.V162fs	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	606_610	+			162_164					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Frame_Shift_Del	DEL	ENST00000340253.5	37	c.486_490delTCATA																																																																																					0.346	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2		NM_030793		25	67	NaN	NaN	NaN	NaN	NaN	25	67	---	---
MLLT3	4300	broad.mit.edu	37	9	20414278	20414280	+	In_Frame_Del	DEL	CTG	CTG	-	rs200928326		TCGA-FT-A3EE-01A-11D-A202-08	TCGA-FT-A3EE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdd4feb-aca3-4104-b1e8-954d705a6450	db3bb39b-a1a6-49af-aae3-7cb489a724e4	g.chr9:20414278_20414280delCTG	ENST00000380338.4	-	5	850_852	c.564_566delCAG	c.(562-567)agcagt>agt	p.188_189SS>S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Del_p.185_186SS>S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ACTGGTActactgctgctgctgc	0.507			T	MLL	ALL																																	uc003zoe.2		NaN		Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)		large_intestine(1)	lung(2)|ovary(1)	3						c.(562-567)AGCAGT>AGT		myeloid/lymphoid or mixed-lineage leukemia				10,41,4213		0,0,10,0,41,2081						-0.5	1.0		dbSNP_104	91	34,58,8160		1,0,32,4,50,4039	no	codingComplex	MLLT3	NM_004529.2		1,0,42,4,91,6120	A1A1,A1A2,A1R,A2A2,A2R,RR		1.1149,1.1961,1.1425				44,99,12373				SO:0001651	inframe_deletion	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414278_20414280delCTG	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.564_566delCAG	9.37:g.20414287_20414289delCTG	ENSP00000369695:p.Ser190del					MLLT3_uc011lne.1_In_Frame_Del_p.156_157SS>S|MLLT3_uc011lnf.1_In_Frame_Del_p.185_186SS>S|MLLT3_uc003zof.2_5'UTR	p.188_189SS>S	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	823_825	-			188_189			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	In_Frame_Del	DEL	ENST00000380338.4	37	c.564_566delCAG	CCDS6494.1																																																																																				0.507	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1		NM_004529		7	124	NaN	NaN	NaN	NaN	NaN	7	124	---	---
