#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
AGRN	375790	broad.mit.edu	37	1	978952	978952	+	Silent	SNP	C	C	T	rs142440782		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:978952C>T	ENST00000379370.2	+	9	1688	c.1638C>T	c.(1636-1638)tgC>tgT	p.C546C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	546	Kazal-like 6. {ECO:0000255|PROSITE- ProRule:PRU00798}.				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)		GAGCCCTGTGCGAGGCCGAGA	0.692																																						uc001ack.1																			0				central_nervous_system(2)|breast(1)	3						c.(1636-1638)TGC>TGT		agrin precursor		C		1,4405	2.1+/-5.4	0,1,2202	45.0	50.0	48.0		1638	-7.3	0.9	1	dbSNP_134	48	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	AGRN	NM_198576.3		0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154		546/2046	978952	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	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.chr1:978952C>T	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.1638C>T	1.37:g.978952C>T							p.C546C	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)	9	1688	+	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)	546			Kazal-like 6.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.1638C>T	CCDS30551.1																																																																																				0.692	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576	
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						uc009vos.1																			0					0						c.e6+1		hypothetical protein LOC55672																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T						NBPF1_uc010oce.1_Intron		NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37	c.-35_splice																																																																																					0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron
HMGCL	3155	broad.mit.edu	37	1	24125491	24125491	+	IGR	SNP	C	C	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:24125491C>G	ENST00000374490.3	-	0	1600				GALE_ENST00000470383.1_5'UTR|GALE_ENST00000374497.3_Missense_Mutation_p.E3Q	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase						acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		AGCACCTTCTCTGCCATGGCA	0.592																																						uc009vqo.1																			0					0						c.(7-9)GAG>CAG		UDP-galactose-4-epimerase							60.0	55.0	57.0					1																	24125491		2203	4300	6503	SO:0001628	intergenic_variant	2582				galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity	g.chr1:24125491C>G	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"""hydroxymethylglutaricaciduria"""	613898	"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"""			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963		1.37:g.24125491C>G						GALE_uc001bhv.1_Missense_Mutation_p.E3Q|GALE_uc001bhw.1_Missense_Mutation_p.E3Q|GALE_uc001bhx.1_Missense_Mutation_p.E3Q|GALE_uc009vqp.1_Missense_Mutation_p.E3Q|GALE_uc001bhy.1_Missense_Mutation_p.E3Q|GALE_uc001bhz.1_Intron|GALE_uc001bia.2_5'Flank|GALE_uc009vqq.1_Missense_Mutation_p.E3Q	p.E3Q	NM_001127621	NP_001121093	Q14376	GALE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	2	217	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	3					B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Missense_Mutation	SNP	ENST00000374490.3	37	c.7G>C	CCDS243.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953928	0.34471	.	.	ENSG00000117308	ENST00000374497;ENST00000425913;ENST00000445705	D;D;D	0.88046	-2.33;-2.33;-2.33	4.81	4.81	0.61882	NAD(P)-binding domain (1);	0.108901	0.64402	D	0.000008	T	0.72985	0.3529	N	0.05383	-0.06	0.43793	D	0.99633	B;B;B	0.13145	0.007;0.004;0.004	B;B;B	0.06405	0.002;0.001;0.001	T	0.67791	-0.5579	10	0.21540	T	0.41	-30.2605	12.1516	0.54053	0.0:0.9162:0.0:0.0838	.	3;3;3	Q5QPP1;Q38G75;Q14376	.;.;GALE_HUMAN	Q	3	ENSP00000363621:E3Q;ENSP00000393359:E3Q;ENSP00000398257:E3Q	ENSP00000363621:E3Q	E	-	1	0	GALE	23998078	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	4.417000	0.59822	2.501000	0.84356	0.563000	0.77884	GAG		0.592	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191	
USH2A	7399	broad.mit.edu	37	1	215933077	215933077	+	Missense_Mutation	SNP	C	C	T	rs527236139		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:215933077C>T	ENST00000307340.3	-	57	11542	c.11156G>A	c.(11155-11157)cGt>cAt	p.R3719H	USH2A_ENST00000366943.2_Missense_Mutation_p.R3719H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3719	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTCCATTACGACTCAATTG	0.408										HNSCC(13;0.011)																												uc001hku.1																			0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(11155-11157)CGT>CAT		usherin isoform B							122.0	115.0	118.0					1																	215933077		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215933077C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11156G>A	1.37:g.215933077C>T	ENSP00000305941:p.Arg3719His	HNSCC(13;0.011)					p.R3719H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	57	11543	-			3719			Fibronectin type-III 22.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11156G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258397	0.80246	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55052	0.54;0.54	5.5	4.57	0.56435	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000454	T	0.68879	0.3049	M	0.75447	2.3	0.50467	D	0.999877	D	0.89917	1.0	D	0.64410	0.925	T	0.70436	-0.4872	10	0.42905	T	0.14	.	13.475	0.61303	0.2845:0.7155:0.0:0.0	.	3719	O75445	USH2A_HUMAN	H	3719	ENSP00000305941:R3719H;ENSP00000355910:R3719H	ENSP00000305941:R3719H	R	-	2	0	USH2A	213999700	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.436000	0.52856	1.405000	0.46838	0.563000	0.77884	CGT		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
OBSCN	84033	broad.mit.edu	37	1	228494689	228494689	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:228494689C>T	ENST00000422127.1	+	45	12058	c.12014C>T	c.(12013-12015)gCg>gTg	p.A4005V	OBSCN_ENST00000570156.2_Missense_Mutation_p.A4962V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1124V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1639V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4005V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4005	Ig-like 41.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGAGCCGGGCGGGTGCGAGC	0.657																																						uc009xez.1																			0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(12013-12015)GCG>GTG		obscurin, cytoskeletal calmodulin and							34.0	41.0	39.0					1																	228494689		2173	4258	6431	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228494689C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12014C>T	1.37:g.228494689C>T	ENSP00000409493:p.Ala4005Val					OBSCN_uc001hsn.2_Missense_Mutation_p.A4005V	p.A4005V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			45	12058	+		Prostate(94;0.0405)	4005			Ig-like 41.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.12014C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759791	0.31137	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	5.47	0.51	0.16983	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.845235	0.10427	N	0.676020	T	0.14184	0.0343	L	0.45051	1.395	0.09310	N	1	D;B	0.67145	0.996;0.434	P;B	0.56127	0.792;0.038	T	0.37407	-0.9707	10	0.39692	T	0.17	.	16.8026	0.85617	0.5151:0.4849:0.0:0.0	.	4005;4005	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	4005;4005;1639;1124	ENSP00000284548:A4005V;ENSP00000409493:A4005V;ENSP00000355668:A1639V;ENSP00000355670:A1124V	ENSP00000284548:A4005V	A	+	2	0	OBSCN	226561312	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.125000	0.10579	0.187000	0.20147	0.455000	0.32223	GCG		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
RYR2	6262	broad.mit.edu	37	1	237813234	237813234	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:237813234G>A	ENST00000366574.2	+	50	7887	c.7570G>A	c.(7570-7572)Gtc>Atc	p.V2524I	RYR2_ENST00000542537.1_Missense_Mutation_p.V2508I|RYR2_ENST00000360064.6_Missense_Mutation_p.V2522I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2524	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGCACAGCCGTCTTGCCATT	0.463																																						uc001hyl.1																			0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7570-7572)GTC>ATC		cardiac muscle ryanodine receptor							172.0	165.0	167.0					1																	237813234		2021	4187	6208	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237813234G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7570G>A	1.37:g.237813234G>A	ENSP00000355533:p.Val2524Ile						p.V2524I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		50	7690	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2524			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7570G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450510	0.63290	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.87887	-2.31;-2.31;-2.31	5.48	5.48	0.80851	.	0.099678	0.39615	N	0.001306	T	0.81527	0.4841	L	0.38838	1.175	0.80722	D	1	D	0.57257	0.979	B	0.38156	0.266	T	0.81037	-0.1114	10	0.29301	T	0.29	-16.546	19.7098	0.96094	0.0:0.0:1.0:0.0	.	2524	Q92736	RYR2_HUMAN	I	2524;2522;2508	ENSP00000355533:V2524I;ENSP00000353174:V2522I;ENSP00000443798:V2508I	ENSP00000353174:V2522I	V	+	1	0	RYR2	235879857	1.000000	0.71417	0.997000	0.53966	0.834000	0.47266	7.882000	0.87258	2.713000	0.92767	0.655000	0.94253	GTC		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RAG1	5896	broad.mit.edu	37	11	36596275	36596275	+	Missense_Mutation	SNP	G	G	A	rs199474686		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr11:36596275G>A	ENST00000299440.5	+	2	1533	c.1421G>A	c.(1420-1422)cGt>cAt	p.R474H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	474			R -> C (probable disease-associated mutation found in a patient with relatively late onset of infections and isolated T-cell lymphopenia; dbSNP:rs199474678). {ECO:0000269|PubMed:20956421}.|R -> H (in OS/T(-)B(-)NK(+) SCID; atypical; dbSNP:rs199474686). {ECO:0000269|PubMed:11133745}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGGCCATCCGTGTCAACACC	0.557									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3																			0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	GRCh37	CM010073	RAG1	M		c.(1420-1422)CGT>CAT		recombination activating gene 1							80.0	69.0	73.0					11																	36596275		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596275G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1421G>A	11.37:g.36596275G>A	ENSP00000299440:p.Arg474His					RAG1_uc001mwt.2_RNA	p.R474H	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	1545	+	all_lung(20;0.226)	all_hematologic(20;0.107)	474		R -> H (in OS/T(-)B(-)NK(+) SCID; atypical).			E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1421G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560020	0.86335	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.77877	-1.13;-1.12	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89132	0.6628	M	0.81682	2.555	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.89959	0.4085	10	0.87932	D	0	.	19.6271	0.95682	0.0:0.0:1.0:0.0	.	474	P15918	RAG1_HUMAN	H	474	ENSP00000434610:R474H;ENSP00000299440:R474H	ENSP00000299440:R474H	R	+	2	0	RAG1	36552851	1.000000	0.71417	0.967000	0.41034	0.991000	0.79684	9.476000	0.97823	2.649000	0.89929	0.650000	0.86243	CGT		0.557	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
GAB2	9846	broad.mit.edu	37	11	77937662	77937662	+	Silent	SNP	T	T	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr11:77937662T>G	ENST00000361507.4	-	4	1141	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_ENST00000340149.2_Silent_p.P314P|GAB2_ENST00000526030.1_5'Flank	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	352					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582																																						uc001ozh.2																			0				ovary(5)|lung(1)	6						c.(1054-1056)CCA>CCC		GRB2-associated binding protein 2 isoform a							44.0	51.0	49.0					11																	77937662		2200	4292	6492	SO:0001819	synonymous_variant	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77937662T>G	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1056A>C	11.37:g.77937662T>G						GAB2_uc001ozg.2_Silent_p.P314P	p.P352P	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		4	1056	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		352			SH3-binding.		A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	c.1056A>C	CCDS8259.1																																																																																				0.582	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491	
KCNJ5	3762	broad.mit.edu	37	11	128781583	128781583	+	Missense_Mutation	SNP	G	G	A	rs201816501		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr11:128781583G>A	ENST00000338350.4	+	3	767	c.415G>A	c.(415-417)Gct>Act	p.A139T	KCNJ5_ENST00000533599.1_Missense_Mutation_p.A139T|KCNJ5_ENST00000529694.1_Missense_Mutation_p.A139T			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	139					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CTTCGTGTCCGCTTTCCTGTT	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		21439	0.001		0.0	False		,,,				2504	0.0				Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.2																			0				skin(1)	1						c.(415-417)GCT>ACT		potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)						155.0	150.0	152.0					11																	128781583		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781583G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.415G>A	11.37:g.128781583G>A	ENSP00000339960:p.Ala139Thr					KCNJ5_uc009zck.2_Missense_Mutation_p.A139T|KCNJ5_uc001qew.2_Missense_Mutation_p.A139T	p.A139T	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	729	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	139					B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.415G>A	CCDS8479.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	29.5	5.013607	0.93404	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.97378	-4.36;-4.36;-4.36	5.46	5.46	0.80206	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98817	0.9601	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99418	1.0932	10	0.62326	D	0.03	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	139	P48544	IRK5_HUMAN	T	139	ENSP00000433295:A139T;ENSP00000339960:A139T;ENSP00000434266:A139T	ENSP00000339960:A139T	A	+	1	0	KCNJ5	128286793	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	9.869000	0.99810	2.556000	0.86216	0.561000	0.74099	GCT		0.507	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890	
NBEA	26960	broad.mit.edu	37	13	36202290	36202290	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr13:36202290G>A	ENST00000400445.3	+	49	8056	c.7522G>A	c.(7522-7524)Gga>Aga	p.G2508R	NBEA_ENST00000537702.1_Missense_Mutation_p.G301R|NBEA_ENST00000540320.1_Missense_Mutation_p.G2508R|NBEA_ENST00000379939.2_Missense_Mutation_p.G2505R|NBEA_ENST00000310336.4_Missense_Mutation_p.G2508R|NBEA_ENST00000379922.3_Missense_Mutation_p.G65R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2508	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAAGCAGCGAGGACCAGAAGC	0.438																																						uc001uvb.2																			0				ovary(9)|large_intestine(2)	11						c.(7522-7524)GGA>AGA		neurobeachin							120.0	114.0	116.0					13																	36202290		1907	4135	6042	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36202290G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7522G>A	13.37:g.36202290G>A	ENSP00000383295:p.Gly2508Arg					NBEA_uc010abi.2_Missense_Mutation_p.G1164R|NBEA_uc010tee.1_Missense_Mutation_p.G301R|NBEA_uc010tef.1_Missense_Mutation_p.G301R|NBEA_uc010teg.1_Missense_Mutation_p.G301R|NBEA_uc001uvd.2_Missense_Mutation_p.G65R	p.G2508R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	49	7728	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2508			BEACH.		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.7522G>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241600	0.95272	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.6	5.6	0.85130	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.90376	0.6988	H	0.99336	4.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94153	0.7407	10	0.87932	D	0	.	19.6287	0.95691	0.0:0.0:1.0:0.0	.	2508;65;2505	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	R	2508;2508;2505;2508;1135;65;301;65	ENSP00000440951:G2508R;ENSP00000383295:G2508R;ENSP00000369271:G2505R;ENSP00000308534:G2508R;ENSP00000440233:G301R;ENSP00000369254:G65R	ENSP00000308534:G2508R	G	+	1	0	NBEA	35100290	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.722000	0.98770	2.652000	0.90054	0.563000	0.77884	GGA		0.438	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
INF2	64423	broad.mit.edu	37	14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr14:105174270_105174271insG	ENST00000392634.4	+	8	1778_1779	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.R556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	556	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663																																						uc001ypb.2																			0					0						c.(1666-1668)CGGfs		inverted formin 2 isoform 1																																				SO:0001589	frameshift_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174270_105174271insG	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1669dupG	14.37:g.105174273_105174273dupG	ENSP00000376410:p.Arg556fs					INF2_uc010tyi.1_Frame_Shift_Ins_p.R556fs|INF2_uc001ypc.2_Frame_Shift_Ins_p.R556fs|INF2_uc010awz.1_RNA	p.R556fs	NM_022489	NP_071934	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1809_1810	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	556			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Ins	INS	ENST00000392634.4	37	c.1666_1667insG	CCDS9989.2																																																																																				0.663	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489	
Unknown	0	broad.mit.edu	37	14	106770438	106770439	+	IGR	INS	-	-	CT	rs201826648|rs375833692	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr14:106770438_106770439insCT								IGHV2-26 (12322 upstream) : IGHV4-28 (10073 downstream)																							CCTGGCCCAGCCTCTCTTGGCT	0.52														159	0.0317492	0.1074	0.0101	5008	,	,		13768	0.001		0.001	False		,,,				2504	0.0082					uc010tyt.1																			0					0						c.e442-1		Parts of antibodies, mostly variable regions.																																				SO:0001628	intergenic_variant	8755							g.chr14:106770438_106770439insCT																													14.37:g.106770443_106770444dupCT														442		-									Splice_Site	INS		37	c.15776_splice																																																																																				0	0.520								
HERC2P3	283755	broad.mit.edu	37	15	20657638	20657638	+	RNA	SNP	G	G	A	rs367574944	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr15:20657638G>A	ENST00000428453.1	-	0	2320							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCGCAGTGCCGTCTGAGCGAG	0.502													.|||	63	0.0125799	0.0446	0.0043	5008	,	,		20383	0.001		0.0	False		,,,				2504	0.0					uc001ytg.2																			0											c.(1630-1632)ACG>ATG		RecName: Full=Putative HERC2-like protein 3;		G		5,2047		0,5,1021	2.0	2.0	2.0			2.9	0.7	15		2	2,4802		0,2,2400	no	intergenic				0,7,3421	AA,AG,GG		0.0416,0.2437,0.1021			20657638	7,6849	1026	2402	3428			0							g.chr15:20657638G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20657638G>A						uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.T544M|uc010tyy.1_Missense_Mutation_p.T544M|uc010tyz.1_3'UTR	p.T544M							16	2340	-									Missense_Mutation	SNP	ENST00000428453.1	37	c.1631C>T																																																																																					0.502	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269	
ZWILCH	55055	broad.mit.edu	37	15	66806421	66806421	+	Splice_Site	SNP	G	G	A	rs183748228		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr15:66806421G>A	ENST00000307897.5	+	3	581	c.201G>A	c.(199-201)gtG>gtA	p.V67V	ZWILCH_ENST00000565627.1_Intron|ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000535141.2_5'UTR|ZWILCH_ENST00000446801.2_5'UTR|RPL4_ENST00000564517.1_Intron|RPL4_ENST00000568588.1_Intron	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	67					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TGGAAAAAGTGGTAAGTACTG	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		17126	0.001		0.0	False		,,,				2504	0.0					uc002aqb.2																			0				ovary(1)	1						c.(199-201)GTG>GTA		Zwilch							56.0	55.0	56.0					15																	66806421		2201	4298	6499	SO:0001630	splice_region_variant	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66806421G>A	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.201+1G>A	15.37:g.66806421G>A						RPL4_uc002apx.2_Intron|ZWILCH_uc010bhu.1_Intron|ZWILCH_uc002aqa.2_5'UTR|ZWILCH_uc010bhv.2_5'UTR	p.V67V	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN			3	447	+			67					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	ENST00000307897.5	37	c.201G>A	CCDS10219.1																																																																																				0.358	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975	Silent
YPEL3	83719	broad.mit.edu	37	16	30106203	30106203	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr16:30106203G>A	ENST00000398838.4	-	4	390	c.177C>T	c.(175-177)tgC>tgT	p.C59C	TBX6_ENST00000553607.1_5'Flank|YPEL3_ENST00000563788.1_Silent_p.C59C|TBX6_ENST00000395224.2_5'Flank|YPEL3_ENST00000566134.1_Intron|YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000398841.1_Silent_p.C97C|YPEL3_ENST00000562641.1_Silent_p.C97C|YPEL3_ENST00000566595.1_Silent_p.C59C|RP11-455F5.3_ENST00000515455.2_RNA	NM_001145524.1	NP_001138996.1	P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	59						nucleus (GO:0005634)				endometrium(1)|lung(2)	3						CGGCTGGCCCGCAGCCCACGT	0.632																																						uc002dwm.2																			0					0						c.(175-177)TGC>TGT		yippee-like 3 isoform 2							38.0	44.0	42.0					16																	30106203		2144	4276	6420	SO:0001819	synonymous_variant	83719					nucleolus		g.chr16:30106203G>A	AF305622	CCDS42147.1, CCDS45459.1	16p11	2008-02-05							18327	protein-coding gene	gene with protein product		609724					Standard	NM_031477		Approved	MGC10500	uc002dwm.3	P61236		ENST00000398838.4:c.177C>T	16.37:g.30106203G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TBX6_uc010veh.1_5'Flank|TBX6_uc002dwk.1_5'Flank|YPEL3_uc002dwl.2_Silent_p.C97C|YPEL3_uc002dwn.1_Silent_p.C97C|uc002dwo.1_5'Flank	p.C59C	NM_001145524	NP_001138996	P61236	YPEL3_HUMAN			4	363	-			59					Q65Z99|Q86VK6|Q9BSJ4|Q9CQB6	Silent	SNP	ENST00000398838.4	37	c.177C>T	CCDS45459.1																																																																																				0.632	YPEL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434043.1	NM_031477	
GPR114	221188	broad.mit.edu	37	16	57597817	57597817	+	Missense_Mutation	SNP	C	C	T	rs546977099	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr16:57597817C>T	ENST00000340339.4	+	5	878	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.R119W	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	119					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(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CGAGCTGACCCGGGACGCCTG	0.632													C|||	2	0.000399361	0.0	0.0	5008	,	,		15396	0.0		0.0	False		,,,				2504	0.002					uc002elx.3																			0				central_nervous_system(1)	1						c.(355-357)CGG>TGG		G protein-coupled receptor 114 precursor							43.0	47.0	46.0					16																	57597817		2198	4300	6498	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57597817C>T	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.355C>T	16.37:g.57597817C>T	ENSP00000342981:p.Arg119Trp					GPR114_uc010vhr.1_Missense_Mutation_p.R119W|GPR114_uc002ely.2_Missense_Mutation_p.R119W	p.R119W	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN			5	440	+			119			Extracellular (Potential).		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.355C>T	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530382	0.45073	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	T;T	0.31247	1.5;1.5	5.03	-2.78	0.05859	.	2.470240	0.01466	N	0.016061	T	0.37785	0.1016	L	0.40543	1.245	0.09310	N	1	D;D	0.76494	0.999;0.997	P;P	0.57425	0.82;0.543	T	0.37454	-0.9705	10	0.62326	D	0.03	.	5.1116	0.14811	0.5584:0.269:0.0:0.1726	.	119;119	B4E148;Q8IZF4	.;GP114_HUMAN	W	119	ENSP00000342981:R119W;ENSP00000290823:R119W	ENSP00000342981:R119W	R	+	1	2	GPR114	56155318	0.000000	0.05858	0.007000	0.13788	0.023000	0.10783	-0.707000	0.05041	-0.417000	0.07461	-0.333000	0.08304	CGG		0.632	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837	
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCACTCGGATAAGATGCTG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	p.I195T(61)|p.I195F(16)|p.I195N(12)|p.0?(7)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.I195fs*52(3)|p.K164_P219del(1)|p.I195L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.I195fs*12(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(583-585)ATC>ACC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							100.0	89.0	93.0					17																	7578265		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578265A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.I195T|TP53_uc002gih.2_Missense_Mutation_p.I195T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I63T|TP53_uc010cng.1_Missense_Mutation_p.I63T|TP53_uc002gii.1_Missense_Mutation_p.I63T|TP53_uc010cnh.1_Missense_Mutation_p.I195T|TP53_uc010cni.1_Missense_Mutation_p.I195T|TP53_uc002gij.2_Missense_Mutation_p.I195T|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102T|TP53_uc002gio.2_Missense_Mutation_p.I63T|TP53_uc010vug.1_Missense_Mutation_p.I156T	p.I195T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	778	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.584T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
LIG3	3980	broad.mit.edu	37	17	33323604	33323604	+	Silent	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:33323604C>T	ENST00000378526.4	+	11	1888	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	LIG3_ENST00000262327.5_Silent_p.F585F	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	585					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AAGCAGCCTTCCAGGATGCTA	0.428								Other BER factors																														uc002hik.1																			0				skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9						c.(1753-1755)TTC>TTT	Other_BER_factors	ligase III, DNA, ATP-dependent isoform alpha	Bleomycin(DB00290)						219.0	185.0	197.0					17																	33323604		2203	4300	6503	SO:0001819	synonymous_variant	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33323604C>T		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1755C>T	17.37:g.33323604C>T						LIG3_uc002hij.2_Silent_p.F585F	p.F585F	NM_013975	NP_039269	P49916	DNLI3_HUMAN			11	1863	+		Ovarian(249;0.17)	585					Q16714|Q6NVK3	Silent	SNP	ENST00000378526.4	37	c.1755C>T	CCDS11284.2																																																																																				0.428	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975	
XYLT2	64132	broad.mit.edu	37	17	48437602	48437602	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:48437602G>A	ENST00000017003.2	+	11	2597	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	850					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TCTGTCCCCCGACCCCAAATC	0.647																																						uc002iqo.2																			0				pancreas(1)	1						c.(2548-2550)GAC>AAC		xylosyltransferase II							26.0	28.0	27.0					17																	48437602		2202	4300	6502	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48437602G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.2548G>A	17.37:g.48437602G>A	ENSP00000017003:p.Asp850Asn					XYLT2_uc010dbo.2_RNA	p.D850N	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN			11	2657	+	Breast(11;7.18e-19)		850			Lumenal (Potential).		Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.2548G>A	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182183	0.94885	.	.	ENSG00000015532	ENST00000017003	T	0.17528	2.27	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.80616	2.505	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	T	0.49194	-0.8965	10	0.87932	D	0	-25.6206	18.4802	0.90808	0.0:0.0:1.0:0.0	.	850	Q9H1B5	XYLT2_HUMAN	N	850	ENSP00000017003:D850N	ENSP00000017003:D850N	D	+	1	0	XYLT2	45792601	1.000000	0.71417	0.959000	0.39883	0.955000	0.61496	9.298000	0.96132	2.586000	0.87340	0.655000	0.94253	GAC		0.647	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167	
NOL11	25926	broad.mit.edu	37	17	65733682	65733682	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:65733682delC	ENST00000253247.4	+	12	1392	c.1277delC	c.(1276-1278)acafs	p.T426fs	NOL11_ENST00000535137.1_Frame_Shift_Del_p.T244fs	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	426					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGAAGCAGACACCTGACTTT	0.408																																						uc002jgd.1																			0					0						c.(1276-1278)ACAfs		nucleolar protein 11							113.0	113.0	113.0					17																	65733682		2203	4300	6503	SO:0001589	frameshift_variant	25926					nucleolus		g.chr17:65733682delC	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1277delC	17.37:g.65733682delC	ENSP00000253247:p.Thr426fs					NOL11_uc010wql.1_Frame_Shift_Del_p.T244fs|NOL11_uc010deu.1_Frame_Shift_Del_p.T21fs	p.T426fs	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		12	1280	+	all_cancers(12;1.54e-10)		426					B7Z5V9|Q7L5S1|Q9UG18	Frame_Shift_Del	DEL	ENST00000253247.4	37	c.1277delC	CCDS11671.1																																																																																				0.408	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462	
CTAGE1	64693	broad.mit.edu	37	18	19997860	19997860	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr18:19997860G>A	ENST00000391403.2	-	0	18					NM_172241.2	NP_758441.2	Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGGCTCCTCCGTAGCGCCAAG	0.587																																						uc002ktv.1																			0				ovary(1)	1						c.(-87--83)TACGG>TATGG		cutaneous T-cell lymphoma-associated antigen 1																																						64693					integral to membrane		g.chr18:19997860G>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997860G>A								NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	19	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)							B0YIZ3	Translation_Start_Site	SNP	ENST00000391403.2	37	c.-85C>T	CCDS45837.1																																																																																				0.587	CTAGE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386768.3	NM_022663, NM_172241	
DCC	1630	broad.mit.edu	37	18	50734089	50734089	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr18:50734089T>C	ENST00000442544.2	+	11	2379	c.1763T>C	c.(1762-1764)cTg>cCg	p.L588P	DCC_ENST00000412726.1_Missense_Mutation_p.L436P|DCC_ENST00000581580.1_Missense_Mutation_p.L243P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	588	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGGAAGGCCTGAAAAAATTC	0.383																																						uc002lfe.1																			0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1762-1764)CTG>CCG		netrin receptor DCC precursor							136.0	144.0	141.0					18																	50734089		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50734089T>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1763T>C	18.37:g.50734089T>C	ENSP00000389140:p.Leu588Pro					DCC_uc010xdr.1_Missense_Mutation_p.L436P|DCC_uc010dpf.1_Missense_Mutation_p.L243P	p.L588P	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	11	2350	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	588			Extracellular (Potential).|Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1763T>C	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.167949	0.38315	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	D;D	0.85171	-1.95;-1.95	5.83	5.83	0.93111	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	D	0.95736	0.8613	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	D	0.97483	1.0048	10	0.87932	D	0	.	15.1823	0.72968	0.0:0.0:0.0:1.0	.	436;436;588	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	P	588;521;436	ENSP00000389140:L588P;ENSP00000397322:L436P	ENSP00000304146:L521P	L	+	2	0	DCC	48988087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.587000	0.74071	2.240000	0.73641	0.528000	0.53228	CTG		0.383	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
SALL3	27164	broad.mit.edu	37	18	76753975	76753975	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr18:76753975T>G	ENST00000537592.2	+	2	1984	c.1984T>G	c.(1984-1986)Tcg>Gcg	p.S662A	SALL3_ENST00000536229.3_Missense_Mutation_p.S529A|SALL3_ENST00000575389.2_Missense_Mutation_p.S662A	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	662					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTCGGAAACCTCGAAGCTGCA	0.637																																						uc002lmt.2																			0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1984-1986)TCG>GCG		sal-like 3							29.0	30.0	29.0					18																	76753975		2201	4299	6500	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753975T>G	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1984T>G	18.37:g.76753975T>G	ENSP00000441823:p.Ser662Ala					SALL3_uc010dra.2_Missense_Mutation_p.S269A	p.S662A	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1984	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	662					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1984T>G	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.974817	0.34848	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T;T	0.11169	2.8;3.27	5.13	5.13	0.70059	.	0.000000	0.49916	D	0.000130	T	0.18130	0.0435	N	0.25094	0.71	0.80722	D	1	B;D	0.64830	0.357;0.994	B;D	0.72625	0.444;0.978	T	0.14090	-1.0485	10	0.14656	T	0.56	-32.9244	15.2627	0.73637	0.0:0.0:0.0:1.0	.	394;662	F5GXY4;Q9BXA9	.;SALL3_HUMAN	A	662;662;394	ENSP00000441823:S662A;ENSP00000439975:S662A	ENSP00000299466:S662A	S	+	1	0	SALL3	74854963	1.000000	0.71417	0.971000	0.41717	0.753000	0.42808	7.932000	0.87634	2.061000	0.61500	0.533000	0.62120	TCG		0.637	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999	
CCDC94	55702	broad.mit.edu	37	19	4268683	4268683	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:4268683G>A	ENST00000262962.7	+	8	1030	c.962G>A	c.(961-963)gGc>gAc	p.G321D		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	321										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		GACAGCAACGGCAGCAACTGA	0.642																																						uc002lzv.3																			0					0						c.(961-963)GGC>GAC		coiled-coil domain containing 94							72.0	58.0	63.0					19																	4268683		2201	4299	6500	SO:0001583	missense	55702							g.chr19:4268683G>A	AK001236	CCDS12124.1	19p13.3	2008-02-05				ENSG00000105248			25518	protein-coding gene	gene with protein product						12477932	Standard	NM_018074		Approved	FLJ10374	uc002lzv.4	Q9BW85		ENST00000262962.7:c.962G>A	19.37:g.4268683G>A	ENSP00000262962:p.Gly321Asp						p.G321D	NM_018074	NP_060544	Q9BW85	CCD94_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)	8	995	+			321					O75270|Q9H862|Q9NW16	Missense_Mutation	SNP	ENST00000262962.7	37	c.962G>A	CCDS12124.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499497	0.26861	.	.	ENSG00000105248	ENST00000262962	T	0.42513	0.97	5.12	2.97	0.34412	.	0.863803	0.10128	N	0.712400	T	0.27027	0.0662	L	0.34521	1.04	0.19775	N	0.99995	B	0.27823	0.19	B	0.27608	0.081	T	0.24512	-1.0158	10	0.05436	T	0.98	-7.0602	8.078	0.30729	0.1921:0.0:0.8079:0.0	.	321	Q9BW85	CCD94_HUMAN	D	321	ENSP00000262962:G321D	ENSP00000262962:G321D	G	+	2	0	CCDC94	4219683	0.106000	0.21978	0.307000	0.25127	0.871000	0.50021	0.307000	0.19296	1.171000	0.42768	0.555000	0.69702	GGC		0.642	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458007.2	NM_018074	
ZNF844	284391	broad.mit.edu	37	19	12187394	12187394	+	Missense_Mutation	SNP	T	T	C	rs538666859		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:12187394T>C	ENST00000439326.3	+	4	1634	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F487L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GCCTTCATTTTTTCCACTTCC	0.448													.|||	1	0.000199681	0.0	0.0	5008	,	,		23892	0.0		0.001	False		,,,				2504	0.0					uc002mtb.2																			1	Substitution - Missense(1)		prostate(1)		0						c.(1459-1461)TTT>CTT		zinc finger protein 844							88.0	76.0	80.0					19																	12187394		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187394T>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1459T>C	19.37:g.12187394T>C	ENSP00000392024:p.Phe487Leu					ZNF844_uc010dym.1_Missense_Mutation_p.F330L	p.F487L	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			4	1602	+			487					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1459T>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.727179	0.00091	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.04862	3.54	2.75	-5.5	0.02576	.	.	.	.	.	T	0.01454	0.0047	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	9	0.11485	T	0.65	.	1.7468	0.02963	0.1644:0.3872:0.2107:0.2378	.	487	Q08AG5	ZN844_HUMAN	L	487	ENSP00000392024:F487L	ENSP00000392024:F487L	F	+	1	0	ZNF844	12048394	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-14.436000	0.00000	-6.151000	0.00006	-3.187000	0.00055	TTT		0.448	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2		
CYP4F2	8529	broad.mit.edu	37	19	15989717	15989717	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:15989717G>A	ENST00000221700.6	-	13	1522	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.A476V(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTTCATCTCCGCCATCGCGAA	0.672																																						uc002nbs.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(1426-1428)GCG>GTG		cytochrome P450, family 4, subfamily F,							48.0	46.0	46.0					19																	15989717		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15989717G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1427C>T	19.37:g.15989717G>A	ENSP00000221700:p.Ala476Val					CYP4F2_uc010xot.1_Missense_Mutation_p.A327V	p.A476V	NM_001082	NP_001073	P78329	CP4F2_HUMAN			13	1477	-			476						Missense_Mutation	SNP	ENST00000221700.6	37	c.1427C>T	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	8.574	0.880710	0.17467	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.65916	-0.18	2.62	-3.98	0.04082	.	0.000000	0.64402	U	0.000006	T	0.41719	0.1171	L	0.37897	1.145	0.21020	N	0.999801	B	0.23128	0.08	B	0.30782	0.12	T	0.21245	-1.0251	10	0.42905	T	0.14	.	1.7186	0.02907	0.1251:0.1576:0.3779:0.3394	.	476	P78329	CP4F2_HUMAN	V	476;327	ENSP00000221700:A476V	ENSP00000221700:A476V	A	-	2	0	CYP4F2	15850717	0.018000	0.18449	0.255000	0.24374	0.126000	0.20510	1.075000	0.30716	-0.417000	0.07461	0.484000	0.47621	GCG		0.672	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082	
FFAR3	2865	broad.mit.edu	37	19	35850542	35850542	+	Silent	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:35850542C>T	ENST00000327809.4	+	2	951	c.750C>T	c.(748-750)atC>atT	p.I250I	FFAR3_ENST00000594310.1_Silent_p.I250I	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	250					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGGCTATATCTGCGGTGAAA	0.612																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	uc002nzd.2																			0					0						c.(748-750)ATC>ATT		free fatty acid receptor 3							265.0	193.0	218.0					19																	35850542		2201	4298	6499	SO:0001819	synonymous_variant	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850542C>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.750C>T	19.37:g.35850542C>T						FFAR3_uc010xsu.1_Intron	p.I250I	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	825	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		250			Extracellular (Potential).		B2RWM8|Q14CM7	Silent	SNP	ENST00000327809.4	37	c.750C>T	CCDS12459.1																																																																																				0.612	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304	
CYP2B6	1555	broad.mit.edu	37	19	41515926	41515926	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:41515926A>T	ENST00000324071.4	+	6	857	c.850A>T	c.(850-852)Agc>Tgc	p.S284C	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	284					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CAGTGAATTCAGCCACCAGAA	0.562																																						uc002opr.1																			0				ovary(1)|skin(1)	2						c.(850-852)AGC>TGC		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						161.0	115.0	130.0					19																	41515926		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41515926A>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.850A>T	19.37:g.41515926A>T	ENSP00000324648:p.Ser284Cys					CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	p.S284C	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		6	857	+			284					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.850A>T	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	14.33	2.503463	0.44558	.	.	ENSG00000197408	ENST00000324071	T	0.01572	4.76	4.58	-0.365	0.12549	.	0.381500	0.28047	N	0.016815	T	0.01695	0.0054	L	0.41906	1.305	0.09310	N	0.999991	P	0.46578	0.88	B	0.43754	0.43	T	0.48536	-0.9027	10	0.39692	T	0.17	.	3.1585	0.06512	0.4862:0.291:0.1317:0.0911	.	284	P20813	CP2B6_HUMAN	C	284	ENSP00000324648:S284C	ENSP00000324648:S284C	S	+	1	0	CYP2B6	46207766	0.000000	0.05858	0.117000	0.21633	0.062000	0.15995	-0.754000	0.04787	-0.122000	0.11766	0.450000	0.29827	AGC		0.562	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767	
FOXD4L1	200350	broad.mit.edu	37	2	114257073	114257073	+	Silent	SNP	C	C	T	rs374836136		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr2:114257073C>T	ENST00000306507.5	+	1	413	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	80					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GCGGCCCGAGCGACCCCTCAG	0.697																																						uc002tjw.3																			0					0						c.(238-240)AGC>AGT		forkhead box D4-like 1		C		1,4309		0,1,2154	45.0	65.0	59.0		240	-1.0	0.0	2		59	4,8362		0,4,4179	no	coding-synonymous	FOXD4L1	NM_012184.4		0,5,6333	TT,TC,CC		0.0478,0.0232,0.0394		80/409	114257073	5,12671	2155	4183	6338	SO:0001819	synonymous_variant	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257073C>T	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.240C>T	2.37:g.114257073C>T							p.S80S	NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN			1	413	+			80					B3KWN1|B9EGF3	Silent	SNP	ENST00000306507.5	37	c.240C>T	CCDS2117.1																																																																																				0.697	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184	
SLC17A9	63910	broad.mit.edu	37	20	61596986	61596986	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr20:61596986G>A	ENST00000370351.4	+	10	1101	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	SLC17A9_ENST00000370349.3_Missense_Mutation_p.V318I|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	324					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.V324I(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCTCCAGCGTCTTTGCTCT	0.652																																						uc002yea.3																			1	Substitution - Missense(1)	p.V324I(1)	ovary(1)	ovary(1)|skin(1)	2						c.(970-972)GTC>ATC		vesicular nucleotide transporter SLC17A9							157.0	172.0	167.0					20																	61596986		2121	4242	6363	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61596986G>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.970G>A	20.37:g.61596986G>A	ENSP00000359376:p.Val324Ile					SLC17A9_uc002ydz.3_Missense_Mutation_p.V318I|SLC17A9_uc011aap.1_Missense_Mutation_p.V344I	p.V324I	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			10	1154	+			324			Helical; (Potential).		B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.970G>A	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	0.294	-0.978228	0.02197	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.58358	0.34;0.34	5.01	-3.45	0.04781	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.461165	0.24022	N	0.042269	T	0.27349	0.0671	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18013	0.025;0.008;0.006	B;B;B	0.20767	0.031;0.021;0.013	T	0.27536	-1.0071	10	0.11485	T	0.65	.	7.8091	0.29219	0.5318:0.0:0.3637:0.1045	.	344;324;318	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	I	324;318	ENSP00000359376:V324I;ENSP00000359374:V318I	ENSP00000359374:V318I	V	+	1	0	SLC17A9	61067431	0.025000	0.19082	0.000000	0.03702	0.007000	0.05969	-0.146000	0.10250	-1.110000	0.02992	-0.367000	0.07326	GTC		0.652	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082	
EEF1A2	1917	broad.mit.edu	37	20	62122078	62122078	+	Silent	SNP	C	C	T	rs370695849		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr20:62122078C>T	ENST00000298049.7	-	5	853	c.783G>A	c.(781-783)acG>acA	p.T261T	EEF1A2_ENST00000217182.3_Silent_p.T261T			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	261					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CCACGGGCACCGTGCCAATGC	0.647													c|||	1	0.000199681	0.0	0.0	5008	,	,		13127	0.001		0.0	False		,,,				2504	0.0					uc002yfd.1																			0					0						c.(781-783)ACG>ACA		eukaryotic translation elongation factor 1 alpha							21.0	23.0	22.0					20																	62122078		2189	4275	6464	SO:0001819	synonymous_variant	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62122078C>T	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.783G>A	20.37:g.62122078C>T						EEF1A2_uc002yfe.1_Silent_p.T261T|EEF1A2_uc010gkg.1_Silent_p.T261T	p.T261T	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		5	884	-	all_cancers(38;9.45e-12)		261					B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	c.783G>A	CCDS13522.1																																																																																				0.647	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958	
ADAMTS5	11096	broad.mit.edu	37	21	28338490	28338490	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr21:28338490A>C	ENST00000284987.5	-	1	342	c.221T>G	c.(220-222)gTg>gGg	p.V74G		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	74					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GATGTTCTGCACCAGCCCCTT	0.726																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2																			0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(220-222)GTG>GGG		ADAM metallopeptidase with thrombospondin type 1							33.0	33.0	33.0					21																	28338490		2176	4267	6443	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338490A>C	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.221T>G	21.37:g.28338490A>C	ENSP00000284987:p.Val74Gly						p.V74G	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			1	950	-			74					Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.221T>G	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.972975	0.74246	.	.	ENSG00000154736	ENST00000284987	T	0.05925	3.37	4.32	4.32	0.51571	Peptidase M12B, propeptide (1);	0.082635	0.47852	D	0.000201	T	0.10809	0.0264	L	0.34521	1.04	0.80722	D	1	P	0.50272	0.933	P	0.55923	0.787	T	0.32903	-0.9889	10	0.21540	T	0.41	.	12.6223	0.56610	1.0:0.0:0.0:0.0	.	74	Q9UNA0	ATS5_HUMAN	G	74	ENSP00000284987:V74G	ENSP00000284987:V74G	V	-	2	0	ADAMTS5	27260361	.	.	0.912000	0.35992	0.925000	0.55904	.	.	1.797000	0.52628	0.460000	0.39030	GTG		0.726	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1		
RIPPLY3	53820	broad.mit.edu	37	21	38380466	38380466	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr21:38380466G>A	ENST00000329553.2	+	2	324	c.114G>A	c.(112-114)ccG>ccA	p.P38P	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	38					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											GCCCCGCGCCGTGGCGACCTT	0.577																																						uc002yvv.2																			0				breast(1)	1						c.(112-114)CCG>CCA		Down syndrome critical region protein 6							50.0	49.0	49.0					21																	38380466		2203	4300	6503	SO:0001819	synonymous_variant	53820					nucleus		g.chr21:38380466G>A	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"""Down syndrome critical region gene 6"", ""ripply3 homolog (zebrafish)"""	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.114G>A	21.37:g.38380466G>A						DSCR6_uc011aec.1_Translation_Start_Site|DSCR6_uc010gnd.2_Translation_Start_Site	p.P38P	NM_018962	NP_061835	P57055	DSCR6_HUMAN			2	324	+		Myeloproliferative disorder(46;0.0632)	38						Silent	SNP	ENST00000329553.2	37	c.114G>A	CCDS13648.1																																																																																				0.577	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1		
SIK1	150094	broad.mit.edu	37	21	44841555	44841555	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr21:44841555G>T	ENST00000270162.6	-	5	594	c.462C>A	c.(460-462)aaC>aaA	p.N154K		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CCAGCAGGAGGTTCTCGGTCT	0.617																																						uc002zdf.2																			0				lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						c.(460-462)AAC>AAA		salt-inducible kinase 1							87.0	73.0	78.0					21																	44841555		2203	4300	6503	SO:0001583	missense	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44841555G>T	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.462C>A	21.37:g.44841555G>T	ENSP00000270162:p.Asn154Lys						p.N154K	NM_173354	NP_775490	P57059	SIK1_HUMAN			5	589	-			154			Protein kinase.		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	c.462C>A	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281742	0.80692	.	.	ENSG00000142178	ENST00000270162	D	0.91996	-2.95	5.26	3.47	0.39725	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97068	0.9042	H	0.97587	4.035	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96051	0.9031	10	0.87932	D	0	.	9.2118	0.37322	0.2215:0.0:0.7785:0.0	.	154	P57059	SIK1_HUMAN	K	154	ENSP00000270162:N154K	ENSP00000270162:N154K	N	-	3	2	SIK1	43665983	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	2.666000	0.46799	0.619000	0.30197	-0.224000	0.12420	AAC		0.617	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354	
FANCD2	2177	broad.mit.edu	37	3	10084272	10084272	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr3:10084272G>A	ENST00000419585.1	+	11	974	c.813G>A	c.(811-813)tcG>tcA	p.S271S	FANCD2_ENST00000383807.1_Silent_p.S271S|FANCD2_ENST00000287647.3_Silent_p.S271S|FANCD2_ENST00000383806.1_Silent_p.S271S			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	271	Interaction with BRCA2.|Interaction with FANCE.				DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.S271S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATAAGTTGTCGTCTATTAGAT	0.373			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2			yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			2	Substitution - coding silent(2)		endometrium(2)	central_nervous_system(2)|ovary(1)|skin(1)	4	GRCh37	CD072417	FANCD2	D		c.(811-813)TCG>TCA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							247.0	245.0	246.0					3																	10084272		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10084272G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.813G>A	3.37:g.10084272G>A						FANCD2_uc003bux.1_Silent_p.S271S|FANCD2_uc003buy.1_Silent_p.S271S	p.S271S	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	11	891	+			271			Interaction with FANCE.|Interaction with BRCA2.		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.813G>A	CCDS33696.1																																																																																				0.373	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
PLS1	5357	broad.mit.edu	37	3	142405148	142405148	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr3:142405148T>G	ENST00000337777.3	+	9	1124	c.911T>G	c.(910-912)cTg>cGg	p.L304R	PLS1_ENST00000457734.2_Missense_Mutation_p.L304R|PLS1_ENST00000497002.1_Missense_Mutation_p.L304R	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	304	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TATTTTCATCTGCTTAATCAG	0.348																																						uc010huv.2																			0				ovary(1)	1						c.(910-912)CTG>CGG		plastin 1							144.0	136.0	139.0					3																	142405148		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142405148T>G	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.911T>G	3.37:g.142405148T>G	ENSP00000336831:p.Leu304Arg					PLS1_uc003euz.2_Missense_Mutation_p.L304R|PLS1_uc003eva.2_Missense_Mutation_p.L304R	p.L304R	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN			9	1070	+			304			Actin-binding 1.|CH 2.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.911T>G	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637682	0.87760	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46	5.36	5.36	0.76844	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99719	1.1009	10	0.87932	D	0	-8.9552	15.5191	0.75851	0.0:0.0:0.0:1.0	.	304	Q14651	PLSI_HUMAN	R	304;225;304;304	ENSP00000387890:L304R;ENSP00000417481:L225R;ENSP00000336831:L304R;ENSP00000418700:L304R	ENSP00000336831:L304R	L	+	2	0	PLS1	143887838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.239000	0.73571	0.533000	0.62120	CTG		0.348	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670	
CRYGS	1427	broad.mit.edu	37	3	186256595	186256595	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr3:186256595G>T	ENST00000392499.2	-	4	766	c.427C>A	c.(427-429)Ccc>Acc	p.P143T	CRYGS_ENST00000307944.5_Missense_Mutation_p.P143T	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	143	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		CGGTAGTTGGGTAGCTCATAG	0.547																																						uc003fqe.2																			0					0						c.(427-429)CCC>ACC		crystallin, gamma S							92.0	85.0	87.0					3																	186256595		2203	4300	6503	SO:0001583	missense	1427						structural constituent of eye lens	g.chr3:186256595G>T		CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"""crystallin, gamma 8"""	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.427C>A	3.37:g.186256595G>T	ENSP00000376287:p.Pro143Thr					CRYGS_uc003fqf.2_Missense_Mutation_p.P143T	p.P143T	NM_017541	NP_060011	P22914	CRBS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)	3	479	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		143			Beta/gamma crystallin 'Greek key' 4.		B2RAF8	Missense_Mutation	SNP	ENST00000392499.2	37	c.427C>A	CCDS3275.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802295	0.90538	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	T;T	0.79454	-1.27;-1.27	5.95	5.95	0.96441	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.64402	U	0.000002	D	0.89157	0.6635	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.89735	0.3929	10	0.72032	D	0.01	.	17.8792	0.88835	0.0:0.0:1.0:0.0	.	143	P22914	CRBS_HUMAN	T	143	ENSP00000376287:P143T;ENSP00000312099:P143T	ENSP00000312099:P143T	P	-	1	0	CRYGS	187739289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.934000	0.87649	2.825000	0.97269	0.655000	0.94253	CCC		0.547	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344784.1	NM_017541	
CCDC158	339965	broad.mit.edu	37	4	77252544	77252544	+	Silent	SNP	C	C	T	rs376345467		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr4:77252544C>T	ENST00000388914.3	-	20	3035	c.2883G>A	c.(2881-2883)tcG>tcA	p.S961S		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	961	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTCCCTCAACGAGTTGTTGC	0.363																																						uc003hkb.3																			0				skin(3)|ovary(2)|pancreas(1)	6						c.(2881-2883)TCG>TCA		coiled-coil domain containing 158		C		1,3695		0,1,1847	168.0	173.0	172.0		2883	-8.7	0.1	4		172	1,8177		0,1,4088	no	coding-synonymous	CCDC158	NM_001042784.1		0,2,5935	TT,TC,CC		0.0122,0.0271,0.0168		961/1114	77252544	2,11872	1848	4089	5937	SO:0001819	synonymous_variant	339965							g.chr4:77252544C>T	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2883G>A	4.37:g.77252544C>T							p.S961S	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			20	3036	-			961			Ser-rich.		Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.2883G>A	CCDS43242.1																																																																																				0.363	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	
HPSE	10855	broad.mit.edu	37	4	84223361	84223361	+	Missense_Mutation	SNP	C	C	T	rs138550346		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr4:84223361C>T	ENST00000405413.2	-	11	1403	c.1267G>A	c.(1267-1269)Gtg>Atg	p.V423M	HPSE_ENST00000512196.1_Missense_Mutation_p.V349M|HPSE_ENST00000513463.1_Missense_Mutation_p.V365M|HPSE_ENST00000311412.5_Missense_Mutation_p.V423M	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	423					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GAACCTTGCACGCTTGCCATT	0.408																																						uc003hoj.3																			0				ovary(1)	1						c.(1267-1269)GTG>ATG		heparanase precursor	Heparin(DB01109)	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	2,4404	4.2+/-10.8	0,2,2201	184.0	156.0	166.0		1267,1045,1093,1267	4.7	0.9	4	dbSNP_134	166	0,8600		0,0,4300	no	missense,missense,missense,missense	HPSE	NM_001098540.2,NM_001166498.2,NM_001199830.1,NM_006665.5	21,21,21,21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	423/544,349/470,365/486,423/544	84223361	2,13004	2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84223361C>T	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1267G>A	4.37:g.84223361C>T	ENSP00000384262:p.Val423Met					HPSE_uc010ika.2_Missense_Mutation_p.V365M|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.V166M|HPSE_uc011cct.1_Missense_Mutation_p.V349M|HPSE_uc003hok.3_Missense_Mutation_p.V423M	p.V423M	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	10	1366	-		Hepatocellular(203;0.114)	423					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.1267G>A	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864286	0.32977	4.54E-4	0.0	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.50548	0.74;0.74;0.8;0.78	4.67	4.67	0.58626	.	0.518222	0.19552	N	0.111556	T	0.64046	0.2563	M	0.85710	2.77	0.41796	D	0.989896	D;D;D;D	0.76494	0.999;0.994;0.996;0.997	P;P;P;P	0.62885	0.908;0.79;0.896;0.79	T	0.66110	-0.6005	10	0.41790	T	0.15	-16.6852	5.8676	0.18783	0.1924:0.7119:0.0:0.0956	.	349;365;365;423	E9PCA9;A9JIG7;E9PGR1;Q9Y251	.;.;.;HPSE_HUMAN	M	423;423;349;365	ENSP00000308107:V423M;ENSP00000384262:V423M;ENSP00000423265:V349M;ENSP00000421365:V365M	ENSP00000308107:V423M	V	-	1	0	HPSE	84442385	0.929000	0.31497	0.858000	0.33744	0.053000	0.15095	1.337000	0.33862	2.419000	0.82065	0.655000	0.94253	GTG		0.408	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665	
ASB5	140458	broad.mit.edu	37	4	177136841	177136841	+	Silent	SNP	A	A	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr4:177136841A>G	ENST00000296525.3	-	7	1013	c.900T>C	c.(898-900)tgT>tgC	p.C300C	ASB5_ENST00000512254.1_Silent_p.C247C	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	300	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGCTTCGGATACAGAGTCGGC	0.363																																						uc003iuq.1																			0				skin(2)	2						c.(898-900)TGT>TGC		ankyrin repeat and SOCS box-containing protein							109.0	103.0	105.0					4																	177136841		2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177136841A>G	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.900T>C	4.37:g.177136841A>G						ASB5_uc003iup.1_Silent_p.C247C	p.C300C	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	7	916	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	300			SOCS box.		Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.900T>C	CCDS3827.1																																																																																				0.363	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1		
PLEKHG4B	153478	broad.mit.edu	37	5	182428	182428	+	Missense_Mutation	SNP	G	G	A	rs111247576	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:182428G>A	ENST00000283426.6	+	18	3856	c.3806G>A	c.(3805-3807)cGc>cAc	p.R1269H		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1269							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGCCGCACACGCCAGGCCTGA	0.632													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16922	0.0		0.0	False		,,,				2504	0.0					uc003jak.2																			0				skin(2)	2						c.(3805-3807)CGC>CAC		pleckstrin homology domain containing, family G		G	HIS/ARG	31,4369		0,31,2169	13.0	13.0	13.0		3806	-3.3	0.0	5	dbSNP_132	13	0,8588		0,0,4294	yes	missense	PLEKHG4B	NM_052909.3	29	0,31,6463	AA,AG,GG		0.0,0.7045,0.2387	benign	1269/1272	182428	31,12957	2200	4294	6494	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:182428G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3806G>A	5.37:g.182428G>A	ENSP00000283426:p.Arg1269His						p.R1269H	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	18	3856	+			1269						Missense_Mutation	SNP	ENST00000283426.6	37	c.3806G>A	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.596790	0.00857	0.007045	0.0	ENSG00000153404	ENST00000283426	T	0.33654	1.4	1.63	-3.26	0.05064	.	.	.	.	.	T	0.09247	0.0228	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.13308	-1.0514	9	0.87932	D	0	.	1.4934	0.02461	0.1938:0.1518:0.4599:0.1946	.	1269	Q96PX9	PKH4B_HUMAN	H	1269	ENSP00000283426:R1269H	ENSP00000283426:R1269H	R	+	2	0	PLEKHG4B	235428	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.208000	0.09371	-3.053000	0.00259	-1.305000	0.01319	CGC		0.632	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
IL31RA	133396	broad.mit.edu	37	5	55204208	55204208	+	Silent	SNP	C	C	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:55204208C>A	ENST00000447346.2	+	11	1535	c.1470C>A	c.(1468-1470)atC>atA	p.I490I	IL31RA_ENST00000490985.1_Silent_p.I348I|IL31RA_ENST00000354961.4_Silent_p.I471I|IL31RA_ENST00000396836.2_Silent_p.I490I|IL31RA_ENST00000359040.5_Silent_p.I490I|IL31RA_ENST00000396834.1_Silent_p.I471I|IL31RA_ENST00000297015.3_Silent_p.I348I	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	458	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTACACCATCTTTTACCAAG	0.473																																						uc003jql.2																			0				ovary(1)	1						c.(1468-1470)ATC>ATA		gp130-like monocyte receptor							154.0	129.0	137.0					5																	55204208		2203	4300	6503	SO:0001819	synonymous_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55204208C>A	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1470C>A	5.37:g.55204208C>A						IL31RA_uc003jqk.2_Silent_p.I490I|IL31RA_uc011cqj.1_Silent_p.I348I|IL31RA_uc003jqm.2_Silent_p.I458I|IL31RA_uc003jqn.2_Silent_p.I490I|IL31RA_uc010iwa.1_Silent_p.I458I|IL31RA_uc003jqo.2_Silent_p.I348I	p.I490I	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN			11	1535	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	458			Extracellular (Potential).|Fibronectin type-III 5.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.1470C>A	CCDS3970.2																																																																																				0.473	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017	
HSD17B4	3295	broad.mit.edu	37	5	118810095	118810095	+	Splice_Site	SNP	G	G	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:118810095G>C	ENST00000256216.6	+	4	353		c.e4-1		HSD17B4_ENST00000510025.1_Splice_Site|HSD17B4_ENST00000509514.1_5'Flank|HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000513628.1_5'Flank|HSD17B4_ENST00000504811.1_Splice_Site	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4						alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		CTTTCCCTCAGATTCAGTGGA	0.428																																					Colon(35;490 801 34689 41394 43344)	uc003ksj.2																			0				ovary(1)|pancreas(1)	2						c.e4-1		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						210.0	210.0	210.0					5																	118810095		2202	4300	6502	SO:0001630	splice_region_variant	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118810095G>C		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.221-1G>C	5.37:g.118810095G>C						HSD17B4_uc011cwg.1_Splice_Site_p.D50_splice|HSD17B4_uc011cwh.1_Splice_Site_p.D56_splice|HSD17B4_uc011cwi.1_Splice_Site_p.D99_splice|HSD17B4_uc003ksk.3_Splice_Site|HSD17B4_uc011cwj.1_5'Flank|HSD17B4_uc010jcn.1_5'Flank	p.D74_splice	NM_000414	NP_000405	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	4	344	+		all_cancers(142;0.0206)|Prostate(80;0.0322)						B4DNV1|B4DVS5|E9PB82|F5HE57	Splice_Site	SNP	ENST00000256216.6	37	c.221_splice	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265871	0.80358	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9964	0.97386	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSD17B4	118837994	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.557000	0.98129	2.833000	0.97629	0.591000	0.81541	.		0.428	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414	Intron
ADAMTS19	171019	broad.mit.edu	37	5	128796140	128796140	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:128796140A>C	ENST00000274487.4	+	1	183	c.38A>C	c.(37-39)tAc>tCc	p.Y13S	ADAMTS19-AS1_ENST00000502827.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	13						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCCTCCTTTACCAGCTGGGG	0.622																																						uc003kvb.1																			0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(37-39)TAC>TCC		ADAM metallopeptidase with thrombospondin type 1							194.0	175.0	182.0					5																	128796140		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128796140A>C	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.38A>C	5.37:g.128796140A>C	ENSP00000274487:p.Tyr13Ser					ADAMTS19_uc003kvc.1_5'Flank	p.Y13S	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	1	38	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	13						Missense_Mutation	SNP	ENST00000274487.4	37	c.38A>C	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.640839	0.47153	.	.	ENSG00000145808	ENST00000274487	T	0.66815	-0.23	4.03	2.82	0.32997	.	0.235220	0.22166	N	0.063705	T	0.38852	0.1056	N	0.08118	0	0.29511	N	0.854227	B	0.14438	0.01	B	0.04013	0.001	T	0.19976	-1.0289	9	.	.	.	.	5.8336	0.18594	0.6624:0.1718:0.0:0.1658	.	13	Q8TE59	ATS19_HUMAN	S	13	ENSP00000274487:Y13S	.	Y	+	2	0	ADAMTS19	128824039	1.000000	0.71417	0.997000	0.53966	0.771000	0.43674	3.265000	0.51561	0.833000	0.34828	0.455000	0.32223	TAC		0.622	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
PCDHA10	56139	broad.mit.edu	37	5	140237348	140237348	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:140237348C>T	ENST00000307360.5	+	1	1715	c.1715C>T	c.(1714-1716)gCg>gTg	p.A572V	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	572					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCAGCGCGGGCGGTGCA	0.682																																						uc003lhx.2																			0				ovary(2)|skin(2)|breast(1)	5						c.(1714-1716)GCG>GTG		protocadherin alpha 10 isoform 1 precursor							35.0	35.0	35.0					5																	140237348		1321	2288	3609	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237348C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1715C>T	5.37:g.140237348C>T	ENSP00000304234:p.Ala572Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.A572V	p.A572V	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1715	+			572			Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1715C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0.340	-0.950873	0.02285	.	.	ENSG00000250120	ENST00000307360	T	0.53640	0.61	3.13	1.26	0.21427	Cadherin-like (1);	.	.	.	.	T	0.32734	0.0839	N	0.20986	0.625	0.09310	N	1	B;B	0.17268	0.021;0.012	B;B	0.15870	0.014;0.002	T	0.19063	-1.0317	9	0.25106	T	0.35	.	12.6284	0.56642	0.0:0.6331:0.3669:0.0	.	572;572	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	V	572	ENSP00000304234:A572V	ENSP00000304234:A572V	A	+	2	0	PCDHA10	140217532	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.308000	0.08156	0.318000	0.23185	0.491000	0.48974	GCG		0.682	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHAC1	56135	broad.mit.edu	37	5	140307832	140307832	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:140307832T>C	ENST00000253807.2	+	1	1355	c.1355T>C	c.(1354-1356)cTt>cCt	p.L452P	PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.L452P|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	452	Cadherin 5. {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(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGGAACTTTTCGTTGCT	0.527																																						uc003lih.2																			0				skin(3)|ovary(2)	5						c.(1354-1356)CTT>CCT		protocadherin alpha subfamily C, 1 isoform 1							67.0	72.0	70.0					5																	140307832		2203	4300	6503	SO:0001583	missense	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140307832T>C	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1355T>C	5.37:g.140307832T>C	ENSP00000253807:p.Leu452Pro					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.L452P	p.L452P	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1531	+			452			Extracellular (Potential).|Cadherin 5.		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1355T>C	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.620482	0.46736	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.01981	4.52;4.52	5.54	5.54	0.83059	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.10465	0.0256	M	0.70108	2.13	0.37950	D	0.93261	D;D	0.61697	0.99;0.98	P;P	0.61132	0.884;0.689	T	0.01245	-1.1407	9	0.72032	D	0.01	.	15.6871	0.77421	0.0:0.0:0.0:1.0	.	452;452	Q9H158;Q9H158-2	PCDC1_HUMAN;.	P	452	ENSP00000386356:L452P;ENSP00000253807:L452P	ENSP00000253807:L452P	L	+	2	0	PCDHAC1	140288016	0.040000	0.19996	0.994000	0.49952	0.858000	0.48976	1.365000	0.34182	2.101000	0.63845	0.379000	0.24179	CTT		0.527	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898	
KIF4B	285643	broad.mit.edu	37	5	154395374	154395374	+	Missense_Mutation	SNP	G	G	A	rs199820075		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:154395374G>A	ENST00000435029.4	+	1	2115	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	652					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R652H(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTAATGCGTCAAATGAAA	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		22303	0.001		0.0	False		,,,				2504	0.0					uc010jih.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1954-1956)CGT>CAT		kinesin family member 4B							157.0	156.0	156.0					5																	154395374		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395374G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1955G>A	5.37:g.154395374G>A	ENSP00000387875:p.Arg652His						p.R652H	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2115	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	652			Potential.			Missense_Mutation	SNP	ENST00000435029.4	37	c.1955G>A	CCDS47324.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	12.12	1.842099	0.32513	.	.	ENSG00000226650	ENST00000435029	T	0.18174	2.23	2.54	0.587	0.17439	.	.	.	.	.	T	0.12178	0.0296	L	0.47716	1.5	0.48236	D	0.999614	B	0.31256	0.316	B	0.24269	0.052	T	0.09164	-1.0687	9	0.59425	D	0.04	.	5.0708	0.14606	0.3293:0.0:0.6707:0.0	.	652	Q2VIQ3	KIF4B_HUMAN	H	652	ENSP00000387875:R652H	ENSP00000387875:R652H	R	+	2	0	KIF4B	154375567	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	4.427000	0.59888	-0.177000	0.10690	0.563000	0.77884	CGT		0.408	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
TRIM52	84851	broad.mit.edu	37	5	180687305	180687305	+	Silent	SNP	G	G	A	rs537934458		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:180687305G>A	ENST00000327767.4	-	1	814	c.510C>T	c.(508-510)caC>caT	p.H170H	CTC-338M12.4_ENST00000417281.2_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR|TRIM52-AS1_ENST00000514146.1_RNA|TRIM52-AS1_ENST00000507434.1_RNA|CTC-338M12.4_ENST00000505151.1_RNA|TRIM52-AS1_ENST00000509252.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	170					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		AAGGAGGCGGGTGGATGTCAG	0.537																																						uc003mnp.2																			0					0						c.(508-510)CAC>CAT		tripartite motif-containing 52							173.0	138.0	150.0					5																	180687305		2203	4300	6503	SO:0001819	synonymous_variant	84851					intracellular	zinc ion binding	g.chr5:180687305G>A		CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.510C>T	5.37:g.180687305G>A						uc003mnq.2_5'Flank	p.H170H	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)	1	815	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	170						Silent	SNP	ENST00000327767.4	37	c.510C>T	CCDS4467.1																																																																																				0.537	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765	
DNAH8	1769	broad.mit.edu	37	6	38885721	38885721	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr6:38885721C>A	ENST00000359357.3	+	68	9932	c.9678C>A	c.(9676-9678)ttC>ttA	p.F3226L	DNAH8_ENST00000441566.1_Missense_Mutation_p.F3190L|DNAH8_ENST00000449981.2_Missense_Mutation_p.F3443L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3226	Stalk. {ECO:0000250}.				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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAACAGGATTCCTGTGGAGCC	0.333																																						uc003ooe.1																			0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(9676-9678)TTC>TTA		dynein, axonemal, heavy polypeptide 8							58.0	63.0	61.0					6																	38885721		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38885721C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9678C>A	6.37:g.38885721C>A	ENSP00000352312:p.Phe3226Leu					uc003oof.1_Intron	p.F3226L	NM_001371	NP_001362					68	10278	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.9678C>A		.	.	.	.	.	.	.	.	.	.	C	18.66	3.671629	0.67928	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.60548	0.18;0.18;0.18	5.82	5.82	0.92795	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	M	0.91510	3.215	0.58432	D	0.999999	B	0.31730	0.337	B	0.41036	0.346	T	0.70139	-0.4954	10	0.59425	D	0.04	.	14.2719	0.66157	0.0:0.9293:0.0:0.0707	.	3226	Q96JB1	DYH8_HUMAN	L	3431;3431;3226;3190	ENSP00000333363:F3431L;ENSP00000352312:F3226L;ENSP00000402294:F3190L	ENSP00000333363:F3431L	F	+	3	2	DNAH8	38993699	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.846000	0.39289	2.751000	0.94390	0.650000	0.86243	TTC		0.333	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
RSPO3	84870	broad.mit.edu	37	6	127469869	127469869	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr6:127469869G>C	ENST00000356698.4	+	2	763	c.174G>C	c.(172-174)aaG>aaC	p.K58N	RSPO3_ENST00000368317.3_Missense_Mutation_p.K58N|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	58					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TGTCATGTAAGCCCAGACTAT	0.423																																						uc003qar.2																			0					0						c.(172-174)AAG>AAC		R-spondin 3 precursor							170.0	157.0	161.0					6																	127469869		2203	4299	6502	SO:0001583	missense	84870					extracellular region	heparin binding	g.chr6:127469869G>C	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.174G>C	6.37:g.127469869G>C	ENSP00000349131:p.Lys58Asn					RSPO3_uc003qas.1_Missense_Mutation_p.K58N	p.K58N	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	2	464	+			58			FU 1.		B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	37	c.174G>C	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018172	0.54576	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	D;D	0.82893	-1.66;-1.66	5.93	5.93	0.95920	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	L	0.37630	1.12	0.52501	D	0.99995	P;B	0.39759	0.687;0.128	B;B	0.34779	0.189;0.052	T	0.70637	-0.4817	10	0.36615	T	0.2	-22.6679	16.5677	0.84603	0.0:0.1302:0.8698:0.0	.	58;58	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	N	58	ENSP00000349131:K58N;ENSP00000357300:K58N	ENSP00000349131:K58N	K	+	3	2	RSPO3	127511562	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.322000	0.33689	2.805000	0.96524	0.655000	0.94253	AAG		0.423	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784	
QKI	9444	broad.mit.edu	37	6	163984752	163984755	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr6:163984752_163984755delGTAA	ENST00000361752.3	+	6	1485		c.e6+1		QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000424802.3_Splice_Site|QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000392127.2_Frame_Shift_Del_p.GK312fs|QKI_ENST00000361195.2_Splice_Site	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding						long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GGTGTATTAGGTAAGTTCTTCTCC	0.387																																						uc003qui.2																			0				large_intestine(1)|ovary(1)	2						c.e6+1		quaking homolog, KH domain RNA binding isoform																																				SO:0001630	splice_region_variant	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163984752_163984755delGTAA	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.934+1GTAA>-	6.37:g.163984752_163984755delGTAA						QKI_uc003que.2_Frame_Shift_Del_p.G312fs|QKI_uc003quf.2_Splice_Site_p.E312_splice|QKI_uc003qug.2_Splice_Site_p.G312_splice|QKI_uc003quh.2_Splice_Site_p.E304_splice|QKI_uc003quj.2_Splice_Site_p.G304_splice	p.G312_splice	NM_006775	NP_006766	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	6	1485	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)						Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Splice_Site	DEL	ENST00000361752.3	37	c.934_splice	CCDS5285.1																																																																																				0.387	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	Intron
DNAH11	8701	broad.mit.edu	37	7	21639469	21639469	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:21639469T>C	ENST00000409508.3	+	15	2763	c.2732T>C	c.(2731-2733)aTt>aCt	p.I911T	DNAH11_ENST00000328843.6_Missense_Mutation_p.I911T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	911	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTAGAATTCATTGACGACATT	0.373									Kartagener syndrome																													uc003svc.2																			0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2731-2733)ATT>ACT		dynein, axonemal, heavy chain 11							68.0	64.0	65.0					7																	21639469		1839	4093	5932	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639469T>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2732T>C	7.37:g.21639469T>C	ENSP00000475939:p.Ile911Thr						p.I911T	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			15	2763	+			911			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2732T>C		.	.	.	.	.	.	.	.	.	.	T	25.3	4.626800	0.87560	.	.	ENSG00000105877	ENST00000328843	T	0.24350	1.86	5.58	5.58	0.84498	.	0.279896	0.36703	N	0.002452	T	0.26593	0.0650	.	.	.	0.48762	D	0.999701	P	0.44734	0.842	B	0.40165	0.321	T	0.02797	-1.1109	9	0.52906	T	0.07	.	15.7141	0.77655	0.0:0.0:0.0:1.0	.	911	Q96DT5	DYH11_HUMAN	T	911	ENSP00000330671:I911T	ENSP00000330671:I911T	I	+	2	0	DNAH11	21605994	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.713000	0.68415	2.257000	0.74773	0.459000	0.35465	ATT		0.373	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
EGFR	1956	broad.mit.edu	37	7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L62R(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		3	Substitution - Missense(3)	p.V30_R297>G(5)|p.L62R(1)	lung(2)|central_nervous_system(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(184-186)CTT>CGT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						175.0	167.0	170.0					7																	55210075		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55210075T>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.185T>G	7.37:g.55210075T>G	ENSP00000275493:p.Leu62Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.L62R|EGFR_uc003tqi.2_Missense_Mutation_p.L62R|EGFR_uc003tqj.2_Missense_Mutation_p.L62R|EGFR_uc010kzg.1_Missense_Mutation_p.L62R|EGFR_uc011kco.1_Missense_Mutation_p.L9R	p.L62R	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	431	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		62			Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.185T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.842145	0.71488	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	6.05	4.9	0.64082	EGF receptor, L domain (1);	0.059356	0.64402	D	0.000001	D	0.87857	0.6283	M	0.86028	2.79	0.54753	D	0.999982	P;P;D;D;D	0.89917	0.882;0.795;1.0;0.991;0.992	P;P;D;P;P	0.74674	0.626;0.553;0.984;0.825;0.814	D	0.88586	0.3140	10	0.72032	D	0.01	.	11.1407	0.48400	0.0:0.0723:0.0:0.9277	.	62;62;62;62;62	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	R	62;62;62;62;62;62;9;9	ENSP00000415559:L62R;ENSP00000342376:L62R;ENSP00000345973:L62R;ENSP00000413843:L62R;ENSP00000275493:L62R;ENSP00000410031:L62R;ENSP00000413354:L9R;ENSP00000395243:L9R	ENSP00000275493:L62R	L	+	2	0	EGFR	55177569	1.000000	0.71417	0.981000	0.43875	0.771000	0.43674	5.950000	0.70265	1.114000	0.41781	-0.263000	0.10527	CTT		0.408	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
KDM7A	80853	broad.mit.edu	37	7	139790907	139790907	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:139790907C>T	ENST00000397560.2	-	20	2910	c.2813G>A	c.(2812-2814)cGt>cAt	p.R938H		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		938					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CACAAAGAAACGTGCATGGCC	0.502																																						uc003vvm.2																			0				ovary(1)	1						c.(2812-2814)CGT>CAT		jumonji C domain containing histone demethylase							144.0	141.0	142.0					7																	139790907		1923	4138	6061	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139790907C>T																												ENST00000397560.2:c.2813G>A	7.37:g.139790907C>T	ENSP00000380692:p.Arg938His					JHDM1D_uc010lng.2_RNA	p.R938H	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			20	2817	-	Melanoma(164;0.0142)		938					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.2813G>A	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051231	0.75960	.	.	ENSG00000006459	ENST00000397560	T	0.16196	2.36	5.66	5.66	0.87406	.	0.076733	0.53938	U	0.000060	T	0.37625	0.1010	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.03728	-1.1009	10	0.72032	D	0.01	-10.2047	19.7332	0.96192	0.0:1.0:0.0:0.0	.	938	Q6ZMT4	KDM7_HUMAN	H	938	ENSP00000380692:R938H	ENSP00000380692:R938H	R	-	2	0	JHDM1D	139437376	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	5.359000	0.66074	2.661000	0.90470	0.591000	0.81541	CGT		0.502	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1		
KMT2C	58508	broad.mit.edu	37	7	151849845	151849845	+	Silent	SNP	T	T	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:151849845T>C	ENST00000262189.6	-	49	12689	c.12471A>G	c.(12469-12471)ttA>ttG	p.L4157L	KMT2C_ENST00000485241.1_5'Flank|KMT2C_ENST00000355193.2_Silent_p.L4214L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4157					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAGAGCTCACTAATCTGGGAG	0.498																																						uc003wla.2										N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(12469-12471)TTA>TTG		myeloid/lymphoid or mixed-lineage leukemia 3							120.0	113.0	115.0					7																	151849845		2203	4300	6503	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151849845T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12471A>G	7.37:g.151849845T>C						MLL3_uc003wkz.2_Silent_p.L3275L|MLL3_uc003wkx.2_Silent_p.L315L|MLL3_uc003wky.2_Silent_p.L1721L	p.L4157L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	49	12690	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	4157					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.12471A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	7.587	0.669879	0.14776	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.71	2.06	0.26882	.	.	.	.	.	T	0.21307	0.0513	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.20605	-1.0270	4	.	.	.	.	0.9641	0.01402	0.1952:0.2961:0.1283:0.3805	.	.	.	.	G	1718	.	.	S	-	1	0	MLL3	151480778	0.004000	0.15560	0.774000	0.31636	0.869000	0.49853	0.081000	0.14823	0.427000	0.26145	0.528000	0.53228	AGT		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
RP1L1	94137	broad.mit.edu	37	8	10469370	10469370	+	Silent	SNP	C	C	T	rs190077685	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr8:10469370C>T	ENST00000382483.3	-	4	2461	c.2238G>A	c.(2236-2238)tcG>tcA	p.S746S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	746					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AAACAAAATCCGAGTGGACTG	0.652													c|||	17	0.00339457	0.0129	0.0	5008	,	,		17437	0.0		0.0	False		,,,				2504	0.0					uc003wtc.2																			0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(2236-2238)TCG>TCA		retinitis pigmentosa 1-like 1		C		35,3963		0,35,1964	46.0	54.0	51.0		2238	-9.2	0.0	8		51	1,8307		0,1,4153	no	coding-synonymous	RP1L1	NM_178857.5		0,36,6117	TT,TC,CC		0.012,0.8754,0.2925		746/2401	10469370	36,12270	1999	4154	6153	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10469370C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2238G>A	8.37:g.10469370C>T							p.S746S	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2467	-			746					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.2238G>A	CCDS43708.1																																																																																				0.652	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
NOV	4856	broad.mit.edu	37	8	120435276	120435276	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr8:120435276G>T	ENST00000259526.3	+	5	1205	c.978G>T	c.(976-978)atG>atT	p.M326I	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			AGCCAGTGATGGTCATTGGGA	0.537																																						uc003yoq.2																			0				ovary(2)|skin(2)|kidney(1)	5						c.(976-978)ATG>ATT		nephroblastoma overexpressed precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						177.0	164.0	168.0					8																	120435276		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120435276G>T	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.978G>T	8.37:g.120435276G>T	ENSP00000259526:p.Met326Ile						p.M326I	NM_002514	NP_002505	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		5	1199	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		326			CTCK.			Missense_Mutation	SNP	ENST00000259526.3	37	c.978G>T	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573131	0.86542	.	.	ENSG00000136999	ENST00000259526	T	0.25912	1.77	5.72	5.72	0.89469	Cystine knot (1);Cystine knot, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	M	0.87971	2.92	0.47183	D	0.999347	D	0.69078	0.997	D	0.79108	0.992	T	0.64972	-0.6281	10	0.72032	D	0.01	-28.7754	19.8713	0.96852	0.0:0.0:1.0:0.0	.	326	P48745	NOV_HUMAN	I	326	ENSP00000259526:M326I	ENSP00000259526:M326I	M	+	3	0	NOV	120504457	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.869000	0.99810	2.701000	0.92244	0.557000	0.71058	ATG		0.537	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514	
DCAF8L2	347442	broad.mit.edu	37	X	27766165	27766165	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:27766165G>T	ENST00000451261.2	+	5	1552	c.1153G>T	c.(1153-1155)Ggt>Tgt	p.G385C		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	385										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATTTGCAGTGGGTGGACAAGA	0.398																																						uc011mjy.1																			0				central_nervous_system(1)|pancreas(1)	2						c.(1153-1155)GGT>TGT		DDB1 and CUL4 associated factor 8-like 2							132.0	94.0	106.0					X																	27766165		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766165G>T		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1153G>T	X.37:g.27766165G>T	ENSP00000462745:p.Gly385Cys						p.G385C	NM_001136533	NP_001130005					1	1240	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1153G>T	CCDS59162.1																																																																																				0.398	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354	
SYTL5	94122	broad.mit.edu	37	X	37931389	37931389	+	Missense_Mutation	SNP	G	G	A	rs151098113	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:37931389G>A	ENST00000357972.5	+	4	965	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	SYTL5_ENST00000297875.2_Missense_Mutation_p.R140Q|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.R140Q			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	140					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GATGTTGTCCGACAGTCCATT	0.378													G|||	2	0.000529801	0.0015	0.0	3775	,	,		14657	0.0		0.0	False		,,,				2504	0.0					uc004ddu.2																			0				skin(1)	1						c.(418-420)CGA>CAA		synaptotagmin-like 5 isoform 1		G	GLN/ARG,GLN/ARG,GLN/ARG	5,3828		0,4,1,1627,570	157.0	132.0	140.0		419,419,419	5.3	1.0	X	dbSNP_134	140	2,6726		0,2,0,2426,1872	yes	missense,missense,missense	SYTL5	NM_001163334.1,NM_001163335.1,NM_138780.2	43,43,43	0,6,1,4053,2442	AA,AG,A,GG,G		0.0297,0.1304,0.0663	probably-damaging,probably-damaging,probably-damaging	140/753,140/731,140/731	37931389	7,10554	2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37931389G>A		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.419G>A	X.37:g.37931389G>A	ENSP00000350657:p.Arg140Gln					SYTL5_uc004ddv.2_Missense_Mutation_p.R140Q|SYTL5_uc004ddx.2_Missense_Mutation_p.R140Q	p.R140Q	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			5	953	+			140					A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.419G>A	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948490	0.92593	0.001304	2.97E-4	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.26067	1.76;1.76;2.11	5.33	5.33	0.75918	.	0.172827	0.49305	D	0.000147	T	0.50222	0.1603	M	0.74881	2.28	0.32496	N	0.53957	D;D	0.89917	1.0;0.995	D;P	0.64237	0.923;0.691	T	0.62868	-0.6763	10	0.56958	D	0.05	-7.957	16.9554	0.86258	0.0:0.0:1.0:0.0	.	140;140	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	Q	140	ENSP00000297875:R140Q;ENSP00000350657:R140Q;ENSP00000395220:R140Q	ENSP00000297875:R140Q	R	+	2	0	SYTL5	37816333	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.631000	0.61304	2.354000	0.79902	0.513000	0.50165	CGA		0.378	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780	
MAOA	4128	broad.mit.edu	37	X	43571152	43571152	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:43571152C>A	ENST00000338702.3	+	4	463	c.340C>A	c.(340-342)Cca>Aca	p.P114T	MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_5'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	114					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	CGCCTTTCCACCAGTATGGAA	0.368																																						uc004dfy.2																			0				breast(2)|ovary(1)	3						c.(340-342)CCA>ACA		monoamine oxidase A	Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)						144.0	135.0	139.0					X																	43571152		2203	4300	6503	SO:0001583	missense	4128				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	g.chrX:43571152C>A		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.340C>A	X.37:g.43571152C>A	ENSP00000340684:p.Pro114Thr					MAOA_uc011mkw.1_5'UTR	p.P114T	NM_000240	NP_000231	P21397	AOFA_HUMAN			4	521	+			114			Cytoplasmic.		B4DF46|Q16426	Missense_Mutation	SNP	ENST00000338702.3	37	c.340C>A	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410699	0.25465	.	.	ENSG00000189221	ENST00000338702	D	0.93076	-3.16	5.34	5.34	0.76211	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.89125	0.6626	L	0.38649	1.16	0.80722	D	1	B	0.17667	0.023	B	0.15484	0.013	D	0.85440	0.1154	10	0.42905	T	0.14	.	12.4789	0.55831	0.0:0.918:0.0:0.082	.	114	P21397	AOFA_HUMAN	T	114	ENSP00000340684:P114T	ENSP00000340684:P114T	P	+	1	0	MAOA	43456096	0.997000	0.39634	0.935000	0.37517	0.459000	0.32528	2.444000	0.44890	2.224000	0.72417	0.508000	0.49915	CCA		0.368	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240	
SLC38A5	92745	broad.mit.edu	37	X	48317931	48317931	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:48317931G>A	ENST00000376876.3	-	15	2151	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P	SLC38A5_ENST00000317669.5_Silent_p.P436P|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Silent_p.P385P			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	436					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CCTGGATCTTGGGCCAGGATA	0.582																																						uc010nid.2																			0				ovary(3)	3						c.(1306-1308)CCC>CCT		solute carrier family 38, member 5							47.0	39.0	42.0					X																	48317931		2199	4298	6497	SO:0001819	synonymous_variant	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48317931G>A	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1308C>T	X.37:g.48317931G>A						SLC38A5_uc004djk.3_Silent_p.P385P	p.P436P	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN			16	1486	-			436			Cytoplasmic (Potential).		B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Silent	SNP	ENST00000376876.3	37	c.1308C>T	CCDS14293.1																																																																																				0.582	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518	
TGIF2LX	90316	broad.mit.edu	37	X	89177186	89177186	+	Silent	SNP	G	G	A	rs200638786		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:89177186G>A	ENST00000561129.2	+	1	232	c.102G>A	c.(100-102)tcG>tcA	p.S34S	TGIF2LX_ENST00000283891.5_Silent_p.S34S			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	34					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CAATCATGTCGAGAAATAACG	0.577																																						uc004efe.2																			0				ovary(1)|skin(1)	2						c.(100-102)TCG>TCA		TGFB-induced factor homeobox 2-like, X-linked							22.0	26.0	24.0					X																	89177186		2201	4269	6470	SO:0001819	synonymous_variant	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177186G>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.102G>A	X.37:g.89177186G>A							p.S34S	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	151	+			34					Q5JRM9|Q8TD48	Silent	SNP	ENST00000561129.2	37	c.102G>A	CCDS14459.1																																																																																				0.577	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960	
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-	rs374739932|rs374561693		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						uc004fee.1																			3	Substitution - coding silent(3)		kidney(3)		0						c.(1480-1482)CAGdel		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_uc011mxt.1_In_Frame_Del_p.Q464del|MAMLD1_uc011mxu.1_In_Frame_Del_p.Q477del|MAMLD1_uc011mxv.1_In_Frame_Del_p.Q477del|MAMLD1_uc011mxw.1_In_Frame_Del_p.Q429del	p.Q502del	NM_005491	NP_005482	Q13495	MAMD1_HUMAN			3	1556_1558	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491	
