#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
KIAA1217	56243	broad.mit.edu	37	10	24834019	24834019	+	Missense_Mutation	SNP	G	G	A	rs575450846	byFrequency	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr10:24834019G>A	ENST00000376454.3	+	20	5351	c.5321G>A	c.(5320-5322)cGc>cAc	p.R1774H	KIAA1217_ENST00000396445.1_Missense_Mutation_p.R898H|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R1180H|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R1205H|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R924H|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R1095H|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R858H|KIAA1217_ENST00000376451.2_Missense_Mutation_p.R1457H	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1774					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.R1774H(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAGGATCCCCGCCAATATCGT	0.502													G|||	3	0.000599042	0.0	0.0	5008	,	,		19013	0.0		0.0	False		,,,				2504	0.0031				p.R1774H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5321A	10						.						61.0	68.0	65.0					10																	24834019		2203	4300	6503	24874025	SO:0001583	missense	56243	exon20			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5321G>A	10.37:g.24834019G>A	ENSP00000365637:p.Arg1774His	Somatic		Capture	Illumina HiSeq	Phase_I	24874025	NM_019590	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929620	0.92389	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T	0.64618	1.18;0.86;0.61;0.76;-0.11;-0.02;0.31;0.63	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.80099	0.4561	M	0.70275	2.135	0.51767	D	0.999935	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D;P;D;P;D;D;D;D	0.91635	0.999;0.858;0.999;0.904;0.999;0.999;0.999;0.999	T	0.80935	-0.1160	10	0.87932	D	0	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	1180;1205;858;898;1457;924;1774;1175	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	H	1095;1180;1457;1774;1205;924;1363;898;1457;858	ENSP00000365645:R1095H;ENSP00000392625:R1180H;ENSP00000365637:R1774H;ENSP00000365635:R1205H;ENSP00000302343:R924H;ENSP00000379722:R898H;ENSP00000365634:R1457H;ENSP00000379723:R858H	ENSP00000302343:R924H	R	+	2	0	KIAA1217	24874025	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.443000	0.97568	2.723000	0.93209	0.655000	0.94253	CGC		0.502	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
DNAJC9	23234	broad.mit.edu	37	10	75003607	75003607	+	Silent	SNP	G	G	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr10:75003607G>T	ENST00000372950.4	-	4	2329	c.657C>A	c.(655-657)gcC>gcA	p.A219A	DNAJC9_ENST00000453189.2_5'Flank|FAM149B1_ENST00000242505.6_3'UTR	NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9	219					social behavior (GO:0035176)	nucleus (GO:0005634)		p.A219A(1)		endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					TTACCTGAATGGCTGCCTTCA	0.418																																					p.A219A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C657A	10						.						89.0	78.0	82.0					10																	75003607		2203	4300	6503	74673613	SO:0001819	synonymous_variant	23234	exon4			AF327347	CCDS7322.1	10q22.3	2011-09-02			ENSG00000213551	ENSG00000213551		"""Heat shock proteins / DNAJ (HSP40)"""	19123	protein-coding gene	gene with protein product		611206					Standard	NM_015190		Approved	JDD1, SB73	uc001jtr.3	Q8WXX5	OTTHUMG00000018461	ENST00000372950.4:c.657C>A	10.37:g.75003607G>T		Somatic		Capture	Illumina HiSeq	Phase_I	74673613	NM_015190	B2RMW6	Silent	SNP	ENST00000372950.4	37	CCDS7322.1																																																																																				0.418	DNAJC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048643.1	NM_015190	
CYP2C19	1557	broad.mit.edu	37	10	96580307	96580307	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr10:96580307G>C	ENST00000371321.3	+	6	956	c.874G>C	c.(874-876)Gct>Cct	p.A292P	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	292					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|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)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.A292P(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	AATCACTGCAGCTGACTTACT	0.418																																					p.A292P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G874C	10						.						167.0	152.0	157.0					10																	96580307		2203	4300	6503	96570297	SO:0001583	missense	1557	exon6			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.874G>C	10.37:g.96580307G>C	ENSP00000360372:p.Ala292Pro	Somatic		Capture	Illumina HiSeq	Phase_I	96570297	NM_000769	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	9.306	1.054250	0.19907	.	.	ENSG00000165841	ENST00000371321	T	0.12774	2.65	3.95	-7.89	0.01174	.	0.479979	0.17652	U	0.166646	T	0.12475	0.0303	M	0.71296	2.17	0.09310	N	1	P	0.38195	0.622	B	0.41174	0.349	T	0.00834	-1.1547	10	0.48119	T	0.1	.	5.0567	0.14537	0.2652:0.0892:0.5167:0.1289	.	292	P33261	CP2CJ_HUMAN	P	292	ENSP00000360372:A292P	ENSP00000360372:A292P	A	+	1	0	CYP2C19	96570297	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.207000	0.00041	-2.175000	0.00771	-0.755000	0.03482	GCT		0.418	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769	
EIF3A	8661	broad.mit.edu	37	10	120801682	120801682	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr10:120801682C>T	ENST00000369144.3	-	19	3477	c.3350G>A	c.(3349-3351)cGa>cAa	p.R1117Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1083Q	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.R1117Q(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCAAGGTCCTCGATCATCATC	0.592																																					p.R1117Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3350A	10						.						176.0	165.0	169.0					10																	120801682		2203	4300	6503	120791672	SO:0001583	missense	8661	exon19			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3350G>A	10.37:g.120801682C>T	ENSP00000358140:p.Arg1117Gln	Somatic		Capture	Illumina HiSeq	Phase_I	120791672	NM_003750	B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272025	0.80469	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.25414	1.8;1.82	5.13	5.13	0.70059	.	0.000000	0.32671	N	0.005797	T	0.55210	0.1906	M	0.83223	2.63	0.58432	D	0.999992	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.978	T	0.53358	-0.8450	10	0.28530	T	0.3	-6.7597	18.9695	0.92709	0.0:1.0:0.0:0.0	.	1083;1117	F5H335;Q14152	.;EIF3A_HUMAN	Q	1117;1083	ENSP00000358140:R1117Q;ENSP00000438178:R1083Q	ENSP00000358140:R1117Q	R	-	2	0	EIF3A	120791672	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.763000	0.62257	2.569000	0.86673	0.655000	0.94253	CGA		0.592	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750	
MRGPRE	116534	broad.mit.edu	37	11	3249982	3249982	+	Silent	SNP	G	G	A	rs76078616	byFrequency	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr11:3249982G>A	ENST00000389832.5	-	2	354	c.48C>T	c.(46-48)ggC>ggT	p.G16G	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.G15G			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	16			G -> S (in dbSNP:rs12295710).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G15G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCCTGGGCGCCGTTGGCGG	0.672													G|||	18	0.00359425	0.0121	0.0014	5008	,	,		17391	0.0		0.001	False		,,,				2504	0.0				p.G15G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C45T	11						.	G		35,3891		0,35,1928	31.0	34.0	33.0		45	0.7	0.0	11	dbSNP_132	33	1,8283		0,1,4141	no	coding-synonymous	MRGPRE	NM_001039165.2		0,36,6069	AA,AG,GG		0.0121,0.8915,0.2948		15/312	3249982	36,12174	1963	4142	6105	3206558	SO:0001819	synonymous_variant	116534	exon2			AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.48C>T	11.37:g.3249982G>A		Somatic		Capture	Illumina HiSeq	Phase_I	3206558	NM_001039165	Q2M1V7	Silent	SNP	ENST00000389832.5	37																																																																																					0.672	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536	
CALCA	796	broad.mit.edu	37	11	14990515	14990515	+	Intron	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr11:14990515C>T	ENST00000486207.1	-	2	236				CALCA_ENST00000331587.4_Missense_Mutation_p.G86S|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.G86S|CALCA_ENST00000359642.3_Missense_Mutation_p.G86S|CALCA_ENST00000361010.3_Intron			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha						activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)	p.G86S(1)		central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						CTCAGATTACCGCACCGCTTA	0.517																																					p.G86S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G256A	11						.						158.0	134.0	142.0					11																	14990515		2200	4294	6494	14947091	SO:0001627	intron_variant	796	exon4			X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"""Endogenous ligands"""	1437	protein-coding gene	gene with protein product	"""calcitonin"""	114130	"""calcitonin 1"""	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.227+965G>A	11.37:g.14990515C>T		Somatic		Capture	Illumina HiSeq	Phase_I	14947091	NM_001741	Q93048|Q9UCP0	Missense_Mutation	SNP	ENST00000486207.1	37	CCDS31432.1	.	.	.	.	.	.	.	.	.	.	C	4.718	0.133542	0.09032	.	.	ENSG00000110680	ENST00000359642;ENST00000331587;ENST00000396372	T;T;T	0.19105	2.17;2.17;2.17	4.43	-2.13	0.07144	Calcitonin peptide-like (1);Calcitonin, conserved site (1);	0.253717	0.45126	N	0.000389	T	0.04543	0.0124	N	0.00793	-1.18	0.30343	N	0.78551	B	0.20052	0.041	B	0.17433	0.018	T	0.40997	-0.9533	10	0.11794	T	0.64	-20.883	7.9249	0.29867	0.117:0.6168:0.0:0.2662	.	86	P01258	CALC_HUMAN	S	86	ENSP00000352663:G86S;ENSP00000331746:G86S;ENSP00000379657:G86S	ENSP00000331746:G86S	G	-	1	0	CALCA	14947091	0.999000	0.42202	0.951000	0.38953	0.988000	0.76386	0.735000	0.26115	-0.343000	0.08351	-0.137000	0.14449	GGT		0.517	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741	
KCNA4	3739	broad.mit.edu	37	11	30033943	30033943	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr11:30033943C>T	ENST00000328224.6	-	2	1516	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	95					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.A95T(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CGGTAGTGGGCTTTCTTCTTC	0.612																																					p.A95T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G283A	11						.						42.0	44.0	44.0					11																	30033943		2088	4225	6313	29990519	SO:0001583	missense	3739	exon2			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.283G>A	11.37:g.30033943C>T	ENSP00000328511:p.Ala95Thr	Somatic		Capture	Illumina HiSeq	Phase_I	29990519	NM_002233		Missense_Mutation	SNP	ENST00000328224.6	37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	1.643	-0.515995	0.04200	.	.	ENSG00000182255	ENST00000328224	D	0.96619	-4.07	4.73	-4.8	0.03190	.	.	.	.	.	D	0.87241	0.6128	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.78023	-0.2366	9	0.15066	T	0.55	.	3.8101	0.08793	0.111:0.2316:0.4612:0.1962	.	95	P22459	KCNA4_HUMAN	T	95	ENSP00000328511:A95T	ENSP00000328511:A95T	A	-	1	0	KCNA4	29990519	0.094000	0.21725	0.020000	0.16555	0.424000	0.31475	1.083000	0.30815	-0.489000	0.06716	-0.310000	0.09108	GCC		0.612	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233	
TMEM179B	374395	broad.mit.edu	37	11	62557140	62557140	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr11:62557140C>T	ENST00000333449.4	+	4	492	c.487C>T	c.(487-489)Cac>Tac	p.H163Y	TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron|RP11-727F15.12_ENST00000601484.1_RNA|TMEM179B_ENST00000533861.1_Intron|NXF1_ENST00000533048.1_5'Flank	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	163						integral component of membrane (GO:0016021)		p.H163Y(1)		kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						CTCCAACCTACACAATGCTGA	0.478																																					p.H163Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C487T	11						.						89.0	99.0	96.0					11																	62557140		2201	4299	6500	62313716	SO:0001583	missense	374395	exon4			BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.487C>T	11.37:g.62557140C>T	ENSP00000333697:p.His163Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	62313716	NM_199337		Missense_Mutation	SNP	ENST00000333449.4	37	CCDS8036.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.11|10.11	1.259086|1.259086	0.23051|0.23051	.|.	.|.	ENSG00000185475|ENSG00000185475	ENST00000333449|ENST00000526546	.|.	.|.	.|.	5.91|5.91	2.61|2.61	0.31194|0.31194	.|.	0.347395|.	0.34133|.	N|.	0.004239|.	T|T	0.31420|0.31420	0.0796|0.0796	L|L	0.27053|0.27053	0.805|0.805	0.26861|0.26861	N|N	0.967966|0.967966	B|.	0.13594|.	0.008|.	B|.	0.14578|.	0.011|.	T|T	0.20672|0.20672	-1.0268|-1.0268	9|5	0.15066|.	T|.	0.55|.	.|.	8.5472|8.5472	0.33429|0.33429	0.0:0.724:0.0:0.276|0.0:0.724:0.0:0.276	.|.	163|.	Q7Z7N9|.	T179B_HUMAN|.	Y|I	163|82	.|.	ENSP00000333697:H163Y|.	H|T	+|+	1|2	0|0	TMEM179B|TMEM179B	62313716|62313716	0.813000|0.813000	0.29090|0.29090	0.998000|0.998000	0.56505|0.56505	0.940000|0.940000	0.58332|0.58332	0.383000|0.383000	0.20651|0.20651	0.843000|0.843000	0.35070|0.35070	0.555000|0.555000	0.69702|0.69702	CAC|ACA		0.478	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2	NM_199337	
SLC22A10	387775	broad.mit.edu	37	11	63064808	63064808	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr11:63064808G>T	ENST00000332793.6	+	3	542	c.540G>T	c.(538-540)ttG>ttT	p.L180F	SLC22A10_ENST00000544661.1_Missense_Mutation_p.L25F|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_5'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	180						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.L180F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	GATGGTGTTTGCTCCAGCTTG	0.413																																					p.L180F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G540T	11						.						170.0	170.0	170.0					11																	63064808		2075	4240	6315	62821384	SO:0001583	missense	387775	exon3			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.540G>T	11.37:g.63064808G>T	ENSP00000327569:p.Leu180Phe	Somatic		Capture	Illumina HiSeq	Phase_I	62821384	NM_001039752	Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	0.246	-1.009945	0.02095	.	.	ENSG00000184999	ENST00000544661;ENST00000332793	T;T	0.62232	0.04;0.04	3.26	-6.53	0.01866	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.341270	0.05299	U	0.522606	T	0.54046	0.1834	L	0.46670	1.46	0.09310	N	0.999998	B	0.15473	0.013	B	0.27887	0.084	T	0.50389	-0.8834	10	0.42905	T	0.14	.	9.6347	0.39800	0.2418:0.2947:0.4635:0.0	.	180	Q63ZE4	S22AA_HUMAN	F	25;180	ENSP00000445667:L25F;ENSP00000327569:L180F	ENSP00000327569:L180F	L	+	3	2	SLC22A10	62821384	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.482000	0.02320	-3.558000	0.00141	-2.295000	0.00263	TTG		0.413	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752	
KDM2A	22992	broad.mit.edu	37	11	67017880	67017880	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr11:67017880G>T	ENST00000529006.2	+	17	2825	c.2379G>T	c.(2377-2379)aaG>aaT	p.K793N	KDM2A_ENST00000308783.5_Missense_Mutation_p.K251N|KDM2A_ENST00000530342.1_Missense_Mutation_p.K354N|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	793					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.K793N(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGAAAGCCAAGATCCGGGGAT	0.587																																					p.K793N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2379T	11						.						67.0	75.0	72.0					11																	67017880		2076	4208	6284	66774456	SO:0001583	missense	22992	exon17			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2379G>T	11.37:g.67017880G>T	ENSP00000432786:p.Lys793Asn	Somatic		Capture	Illumina HiSeq	Phase_I	66774456	NM_012308	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.039014	0.35989	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000446134;ENST00000308783	T;T;T	0.26373	2.12;1.74;1.77	5.91	4.82	0.62117	.	0.534656	0.21244	N	0.077777	T	0.20170	0.0485	L	0.27053	0.805	0.43018	D	0.994567	B;B	0.25521	0.128;0.128	B;B	0.30646	0.063;0.118	T	0.04961	-1.0915	9	.	.	.	-21.7698	14.229	0.65879	0.0804:0.0:0.9196:0.0	.	251;793	D4QA03;Q9Y2K7	.;KDM2A_HUMAN	N	793;354;354;251	ENSP00000432786:K793N;ENSP00000435776:K354N;ENSP00000309302:K251N	.	K	+	3	2	KDM2A	66774456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.742000	0.55097	2.802000	0.96397	0.655000	0.94253	AAG		0.587	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308	
IL18BP	10068	broad.mit.edu	37	11	71711488	71711488	+	Silent	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr11:71711488C>T	ENST00000393703.4	+	3	657	c.120C>T	c.(118-120)gcC>gcT	p.A40A	IL18BP_ENST00000497194.2_Silent_p.A40A|IL18BP_ENST00000260049.5_Silent_p.A40A|IL18BP_ENST00000531053.1_Silent_p.A40A|IL18BP_ENST00000404792.1_Silent_p.A40A|IL18BP_ENST00000393707.4_Silent_p.A40A|IL18BP_ENST00000393705.4_Silent_p.A40A|IL18BP_ENST00000337131.5_Silent_p.A40A	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein	40					cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)	p.A40A(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CCACAGCTGCCACTGCCTCAG	0.607																																					p.A40A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C120T	11						.						82.0	94.0	90.0					11																	71711488		2119	4239	6358	71389136	SO:0001819	synonymous_variant	10068	exon3			AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713	ENST00000393703.4:c.120C>T	11.37:g.71711488C>T		Somatic		Capture	Illumina HiSeq	Phase_I	71389136	NM_001039660	B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Silent	SNP	ENST00000393703.4	37	CCDS8206.2																																																																																				0.607	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042	
ARAP1	116985	broad.mit.edu	37	11	72410109	72410109	+	Missense_Mutation	SNP	A	A	T	rs80123537		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr11:72410109A>T	ENST00000393609.3	-	18	2684	c.2482T>A	c.(2482-2484)Tac>Aac	p.Y828N	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Missense_Mutation_p.Y583N|ARAP1_ENST00000393605.3_Missense_Mutation_p.Y588N|ARAP1_ENST00000334211.8_Missense_Mutation_p.Y583N|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Missense_Mutation_p.Y828N|ARAP1_ENST00000429686.1_Missense_Mutation_p.Y522N|ARAP1_ENST00000359373.5_Missense_Mutation_p.Y828N	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	828	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.Y828N(1)|p.Y588N(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCAAACAGGTACAGCCGTTCT	0.587																																					p.Y828N	Ovarian(102;1198 1520 13195 17913 37529)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2482A	11						.						248.0	202.0	218.0					11																	72410109		2200	4293	6493	72087757	SO:0001583	missense	116985	exon18			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2482T>A	11.37:g.72410109A>T	ENSP00000377233:p.Tyr828Asn	Somatic		Capture	Illumina HiSeq	Phase_I	72087757	NM_001040118	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.581934	0.86748	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383;ENST00000340247	T;T;T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.55	5.55	0.83447	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.44685	0.1305	M	0.82132	2.575	0.44395	D	0.997301	D;D;D;D;D	0.89917	0.992;1.0;1.0;0.992;0.989	D;D;D;D;D	0.91635	0.954;0.999;0.999;0.953;0.923	T	0.44651	-0.9314	10	0.56958	D	0.05	.	14.5249	0.67881	1.0:0.0:0.0:0.0	.	583;522;828;828;588	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	N	828;828;588;583;828;583;522;116;116;617	ENSP00000352332:Y828N;ENSP00000390461:Y828N;ENSP00000377230:Y588N;ENSP00000335506:Y583N;ENSP00000377233:Y828N;ENSP00000392264:Y583N;ENSP00000403127:Y522N;ENSP00000411452:Y116N;ENSP00000399118:Y116N	ENSP00000335506:Y583N	Y	-	1	0	ARAP1	72087757	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.089000	0.89525	2.112000	0.64535	0.379000	0.24179	TAC		0.587	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118	
FAT3	120114	broad.mit.edu	37	11	92624171	92624171	+	Silent	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr11:92624171C>T	ENST00000298047.6	+	27	13679	c.13662C>T	c.(13660-13662)ggC>ggT	p.G4554G	FAT3_ENST00000533797.1_Silent_p.G857G|FAT3_ENST00000525166.1_Silent_p.G4404G|FAT3_ENST00000409404.2_Silent_p.G4522G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4554					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G4554G(1)|p.G4522G(1)|p.G1129G(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAACTGCGGCTTTGACGATT	0.572										TCGA Ovarian(4;0.039)																											p.G4522G												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C13566T	11						.						38.0	41.0	40.0					11																	92624171		2069	4209	6278	92263819	SO:0001819	synonymous_variant	120114	exon25			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13662C>T	11.37:g.92624171C>T		Somatic		Capture	Illumina HiSeq	Phase_I	92263819	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.572	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
BSX	390259	broad.mit.edu	37	11	122848537	122848537	+	Silent	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr11:122848537G>A	ENST00000343035.2	-	3	570	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	174					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D174D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CTTTGGGTTCGTCTTGGCTTT	0.592																																					p.D174D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C522T	11						.						63.0	64.0	64.0					11																	122848537		1893	4127	6020	122353747	SO:0001819	synonymous_variant	390259	exon3				CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.522C>T	11.37:g.122848537G>A		Somatic		Capture	Illumina HiSeq	Phase_I	122353747	NM_001098169		Silent	SNP	ENST00000343035.2	37	CCDS41728.1																																																																																				0.592	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169	
PRB4	5545	broad.mit.edu	37	12	11461651	11461651	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr12:11461651G>T	ENST00000535904.1	-	3	299	c.266C>A	c.(265-267)tCc>tAc	p.S89Y	PRB4_ENST00000445719.2_Missense_Mutation_p.S89Y|PRB4_ENST00000279575.1_Missense_Mutation_p.S89Y			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	110	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)		p.S89Y(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGGACCTTGGGACTGGTTGCC	0.597										HNSCC(22;0.051)																											p.S89Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C266A	12						.						322.0	348.0	339.0					12																	11461651		2203	4300	6503	11352918	SO:0001583	missense	5545	exon3				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.266C>A	12.37:g.11461651G>T	ENSP00000442834:p.Ser89Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	11352918	NM_002723	A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	3.946	-0.013159	0.07727	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04551	3.6;3.6;3.95	0.805	-0.625	0.11548	.	.	.	.	.	T	0.03871	0.0109	L	0.53249	1.67	0.09310	N	1	P	0.36683	0.565	B	0.23275	0.045	T	0.34650	-0.9820	9	0.54805	T	0.06	.	3.5051	0.07688	0.0:0.0:0.4494:0.5506	.	89	E9PAL0	.	Y	89	ENSP00000279575:S89Y;ENSP00000442834:S89Y;ENSP00000412740:S89Y	ENSP00000279575:S89Y	S	-	2	0	PRB4	11352918	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.673000	0.05239	-0.248000	0.09583	0.205000	0.17691	TCC		0.597	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723	
KIAA1467	57613	broad.mit.edu	37	12	13214679	13214679	+	Missense_Mutation	SNP	G	G	A	rs373610349		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr12:13214679G>A	ENST00000197268.8	+	4	823	c.703G>A	c.(703-705)Gca>Aca	p.A235T		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	235						integral component of membrane (GO:0016021)		p.A235T(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GATGCTCAGCGCATTCAATGC	0.468																																					p.A235T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G703A	12						.	G	THR/ALA	0,4406		0,0,2203	80.0	68.0	72.0		703	3.8	0.2	12		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1467	NM_020853.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	235/623	13214679	1,13005	2203	4300	6503	13105946	SO:0001583	missense	57613	exon4			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.703G>A	12.37:g.13214679G>A	ENSP00000197268:p.Ala235Thr	Somatic		Capture	Illumina HiSeq	Phase_I	13105946	NM_020853	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	G	1.230	-0.624528	0.03636	0.0	1.16E-4	ENSG00000084444	ENST00000197268;ENST00000537625	T;T	0.48201	0.82;1.12	5.58	3.76	0.43208	Quinonprotein alcohol dehydrogenase-like (1);	0.416215	0.28712	N	0.014391	T	0.33498	0.0865	L	0.38531	1.155	0.09310	N	1	B	0.16166	0.016	B	0.11329	0.006	T	0.15694	-1.0428	10	0.37606	T	0.19	-1.4059	6.4835	0.22075	0.169:0.2777:0.5533:0.0	.	235	A2RU67	K1467_HUMAN	T	235;11	ENSP00000197268:A235T;ENSP00000437974:A11T	ENSP00000197268:A235T	A	+	1	0	KIAA1467	13105946	0.909000	0.30893	0.224000	0.23877	0.027000	0.11550	2.546000	0.45778	1.363000	0.46019	-0.142000	0.14014	GCA		0.468	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	
SLCO1B3	28234	broad.mit.edu	37	12	21051426	21051426	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr12:21051426G>A	ENST00000381545.3	+	14	1958	c.1739G>A	c.(1738-1740)aGa>aAa	p.R580K	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.R580K|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.R580K|LST3_ENST00000540229.1_Missense_Mutation_p.R580K|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	580					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.R580K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	ATGGTTATAAGAACACTAGGT	0.259																																					p.R580K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1739A	12						.						75.0	72.0	73.0					12																	21051426		2201	4295	6496	20942693	SO:0001583	missense	28234	exon13				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1739G>A	12.37:g.21051426G>A	ENSP00000370956:p.Arg580Lys	Somatic		Capture	Illumina HiSeq	Phase_I	20942693	NM_019844	E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	11.98	1.800092	0.31869	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	3.7	3.7	0.42460	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.995	D;D;D	0.91635	0.999;0.951;0.951	T	0.75360	-0.3345	10	0.59425	D	0.04	.	11.1515	0.48462	0.0:0.0:1.0:0.0	.	580;580;580	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	K	580;580;580;404;580	ENSP00000261196:R580K;ENSP00000370956:R580K;ENSP00000451758:R580K;ENSP00000443225:R404K;ENSP00000441269:R580K	ENSP00000441269:R580K	R	+	2	0	SLCO1B3;RP11-545J16.1	20942693	0.967000	0.33354	0.051000	0.19133	0.013000	0.08279	6.274000	0.72587	2.058000	0.61347	0.455000	0.32223	AGA		0.259	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844	
FAR2	55711	broad.mit.edu	37	12	29464015	29464015	+	Missense_Mutation	SNP	G	G	A	rs139633375		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr12:29464015G>A	ENST00000536681.3	+	7	1069	c.823G>A	c.(823-825)Gta>Ata	p.V275I	FAR2_ENST00000547116.1_Missense_Mutation_p.V178I|FAR2_ENST00000182377.4_Missense_Mutation_p.V275I|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	275					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.V275I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TGTGGCAGACGTAATTCCAGT	0.423																																					p.V275I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G823A	12						.	G	ILE/VAL	0,4406		0,0,2203	152.0	146.0	148.0		823	-8.8	0.1	12	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAR2	NM_018099.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	275/516	29464015	1,13005	2203	4300	6503	29355282	SO:0001583	missense	55711	exon7			AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.823G>A	12.37:g.29464015G>A	ENSP00000443291:p.Val275Ile	Somatic		Capture	Illumina HiSeq	Phase_I	29355282	NM_018099	F8VV73|Q9H0D5|Q9NVW8	Missense_Mutation	SNP	ENST00000536681.3	37	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669658	0.29693	0.0	1.16E-4	ENSG00000064763	ENST00000536681;ENST00000182377;ENST00000547116	T;T;T	0.21734	1.99;1.99;1.99	4.38	-8.76	0.00830	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.854734	0.10179	N	0.706136	T	0.05868	0.0153	N	0.05592	-0.015	0.21020	N	0.999809	B	0.06786	0.001	B	0.11329	0.006	T	0.31364	-0.9946	10	0.07644	T	0.81	-19.0738	4.431	0.11527	0.1567:0.1611:0.54:0.1422	.	275	Q96K12	FACR2_HUMAN	I	275;275;178	ENSP00000443291:V275I;ENSP00000182377:V275I;ENSP00000449349:V178I	ENSP00000182377:V275I	V	+	1	0	FAR2	29355282	0.000000	0.05858	0.110000	0.21437	0.862000	0.49288	-0.860000	0.04272	-1.985000	0.00984	-0.256000	0.11100	GTA		0.423	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099	
NUP107	57122	broad.mit.edu	37	12	69125008	69125008	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr12:69125008G>A	ENST00000229179.4	+	21	2185	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Missense_Mutation_p.R589H	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	618					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.R618H(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTGAACAGCGCCACCATTGC	0.383																																					p.R618H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1853A	12						.						77.0	76.0	76.0					12																	69125008		2203	4300	6503	67411275	SO:0001583	missense	57122	exon21			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1853G>A	12.37:g.69125008G>A	ENSP00000229179:p.Arg618His	Somatic		Capture	Illumina HiSeq	Phase_I	67411275	NM_020401	B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.278235	0.80692	.	.	ENSG00000111581	ENST00000229179;ENST00000539906	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.84197	0.5419	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.85452	0.1161	8	.	.	.	-10.2737	19.1804	0.93620	0.0:0.0:1.0:0.0	.	589;618	B4DZ67;P57740	.;NU107_HUMAN	H	618;589	.	.	R	+	2	0	NUP107	67411275	1.000000	0.71417	0.998000	0.56505	0.401000	0.30781	8.766000	0.91728	2.618000	0.88619	0.585000	0.79938	CGC		0.383	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	
SRRM4	84530	broad.mit.edu	37	12	119594447	119594447	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	A	A	A	C	A	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr12:119594447A>C	ENST00000267260.4	+	13	2068	c.1680A>C	c.(1678-1680)agA>agC	p.R560S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	560	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ggagccggagacggagccgga	0.736																																					p.R560S												.	.	0			c.A1680C	12						.						6.0	8.0	8.0					12																	119594447		1970	4135	6105	118078830	SO:0001583	missense	84530	exon13			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1680A>C	12.37:g.119594447A>C	ENSP00000267260:p.Arg560Ser	Germline		Capture	Illumina HiSeq	Phase_I	118078830	NM_194286	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	A	9.506	1.104372	0.20632	.	.	ENSG00000139767	ENST00000267260	T	0.18338	2.22	5.61	1.72	0.24424	.	0.162693	0.52532	N	0.000070	T	0.06508	0.0167	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	.	.	.	-3.8367	4.911	0.13821	0.1374:0.5626:0.0:0.3	.	560	A7MD48	SRRM4_HUMAN	S	560	ENSP00000267260:R560S	.	R	+	3	2	SRRM4	118078830	0.028000	0.19301	0.045000	0.18777	0.360000	0.29518	-1.168000	0.03123	0.332000	0.23536	-0.775000	0.03384	AGA		0.736	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286	
POSTN	10631	broad.mit.edu	37	13	38160391	38160391	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr13:38160391C>A	ENST00000379747.4	-	7	897	c.780G>T	c.(778-780)ttG>ttT	p.L260F	POSTN_ENST00000541481.1_Missense_Mutation_p.L260F|POSTN_ENST00000379743.4_Missense_Mutation_p.L260F|POSTN_ENST00000541179.1_Missense_Mutation_p.L260F|POSTN_ENST00000379742.4_Missense_Mutation_p.L260F|POSTN_ENST00000379749.4_Missense_Mutation_p.L260F	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	260	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.L260F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CAAGGGCCTCCAATATGTCCG	0.458																																					p.L260F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G780T	13						.						103.0	89.0	94.0					13																	38160391		2203	4300	6503	37058391	SO:0001583	missense	10631	exon7			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.780G>T	13.37:g.38160391C>A	ENSP00000369071:p.Leu260Phe	Somatic		Capture	Illumina HiSeq	Phase_I	37058391	NM_001135934	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339990	0.24339	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74;-2.74	5.67	3.95	0.45737	FAS1 domain (4);	0.162448	0.44285	D	0.000468	D	0.89047	0.6604	L	0.42632	1.34	0.43540	D	0.995835	P;P;P;P;P;P;P	0.44776	0.759;0.58;0.763;0.843;0.818;0.534;0.763	P;P;P;P;P;B;P	0.49887	0.622;0.557;0.589;0.625;0.487;0.355;0.589	D	0.86555	0.1837	10	0.46703	T	0.11	.	9.2152	0.37342	0.0:0.7186:0.0:0.2814	.	260;260;260;260;260;260;260	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	F	260;260;260;260;260;260;177	ENSP00000437959:L260F;ENSP00000369073:L260F;ENSP00000369071:L260F;ENSP00000369067:L260F;ENSP00000369066:L260F;ENSP00000437953:L260F	ENSP00000369066:L260F	L	-	3	2	POSTN	37058391	1.000000	0.71417	0.719000	0.30619	0.519000	0.34347	3.007000	0.49536	0.749000	0.32854	-0.136000	0.14681	TTG		0.458	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	
TSC22D1	8848	broad.mit.edu	37	13	45148204	45148204	+	Silent	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr13:45148204G>A	ENST00000458659.2	-	1	2497	c.2007C>T	c.(2005-2007)tcC>tcT	p.S669S	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	669	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S669S(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGGGCTGTCCGGAGGACATTG	0.527																																					p.S669S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2007T	13						.						70.0	70.0	70.0					13																	45148204		2203	4300	6503	44046204	SO:0001819	synonymous_variant	8848	exon1			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2007C>T	13.37:g.45148204G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44046204	NM_183422	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	CCDS31966.1																																																																																				0.527	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022	
OLFM4	10562	broad.mit.edu	37	13	53624319	53624319	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr13:53624319A>T	ENST00000219022.2	+	5	1024	c.946A>T	c.(946-948)Ata>Tta	p.I316L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	316	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.I316L(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GCTATTGTATATAAATGCTCG	0.428																																					p.I316L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A946T	13						.						123.0	102.0	109.0					13																	53624319		2203	4300	6503	52522320	SO:0001583	missense	10562	exon5			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.946A>T	13.37:g.53624319A>T	ENSP00000219022:p.Ile316Leu	Somatic		Capture	Illumina HiSeq	Phase_I	52522320	NM_006418	O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	A	6.113	0.389113	0.11581	.	.	ENSG00000102837	ENST00000219022	D	0.88509	-2.39	5.92	-5.16	0.02857	Olfactomedin-like (3);	2.382400	0.01161	N	0.006659	T	0.75148	0.3810	N	0.08118	0	0.09310	N	1	B	0.18741	0.03	B	0.09377	0.004	T	0.65861	-0.6065	10	0.30078	T	0.28	.	6.239	0.20778	0.5416:0.0:0.2784:0.18	.	316	Q6UX06	OLFM4_HUMAN	L	316	ENSP00000219022:I316L	ENSP00000219022:I316L	I	+	1	0	OLFM4	52522320	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.079000	0.14782	-1.665000	0.01477	-2.229000	0.00292	ATA		0.428	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418	
ATP11A	23250	broad.mit.edu	37	13	113490494	113490494	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr13:113490494T>A	ENST00000487903.1	+	16	1722	c.1634T>A	c.(1633-1635)tTt>tAt	p.F545Y	ATP11A_ENST00000375645.3_Missense_Mutation_p.F545Y|ATP11A_ENST00000283558.8_Missense_Mutation_p.F545Y|ATP11A_ENST00000375630.2_Missense_Mutation_p.F545Y			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	545					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.F545Y(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCTTTCAGGTTTGAATTGCTG	0.418																																					p.F545Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1634A	13						.						127.0	119.0	122.0					13																	113490494		2203	4300	6503	112538495	SO:0001583	missense	23250	exon16			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1634T>A	13.37:g.113490494T>A	ENSP00000420387:p.Phe545Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	112538495	NM_015205	Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.147|6.147	0.395248|0.395248	0.11638|0.11638	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558|ENST00000418678	T;T;T;T|.	0.59502|.	0.26;0.26;0.26;0.26|.	4.87|4.87	3.63|3.63	0.41609|0.41609	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.096461|.	0.64402|.	D|.	0.000001|.	T|T	0.34337|0.34337	0.0894|0.0894	N|N	0.05592|0.05592	-0.015|-0.015	0.80722|0.80722	D|D	1|1	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.17722|.	0.006;0.019;0.012|.	T|T	0.12760|0.12760	-1.0535|-1.0535	10|5	0.02654|.	T|.	1|.	.|.	10.9254|10.9254	0.47187|0.47187	0.1399:0.0:0.0:0.8601|0.1399:0.0:0.0:0.8601	.|.	545;545;545|.	E9PCW5;E9PEJ6;P98196|.	.;.;AT11A_HUMAN|.	Y|M	545|520	ENSP00000420387:F545Y;ENSP00000364781:F545Y;ENSP00000364796:F545Y;ENSP00000283558:F545Y|.	ENSP00000283558:F545Y|.	F|L	+|+	2|1	0|2	ATP11A|ATP11A	112538495|112538495	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.778000|0.778000	0.44026|0.44026	3.803000|3.803000	0.55560|0.55560	1.833000|1.833000	0.53350|0.53350	0.533000|0.533000	0.62120|0.62120	TTT|TTG		0.418	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	
C14orf93	60686	broad.mit.edu	37	14	23456490	23456490	+	Silent	SNP	T	T	C			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr14:23456490T>C	ENST00000299088.6	-	7	1980	c.1551A>G	c.(1549-1551)caA>caG	p.Q517Q	RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_Silent_p.Q337Q|C14orf93_ENST00000341470.4_Silent_p.Q477Q|C14orf93_ENST00000397382.4_Silent_p.Q517Q|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000406429.2_Silent_p.Q477Q|C14orf93_ENST00000397379.3_Silent_p.Q517Q	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	517						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)	p.Q517Q(1)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TTTTGTGGGGTTGGTCAAAAG	0.458											OREG0022593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q517Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1551G	14						.						97.0	85.0	89.0					14																	23456490		2203	4300	6503	22526330	SO:0001819	synonymous_variant	60686	exon7			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.1551A>G	14.37:g.23456490T>C		Somatic	763	Capture	Illumina HiSeq	Phase_I	22526330	NM_001130708	B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Silent	SNP	ENST00000299088.6	37	CCDS9583.1																																																																																				0.458	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944	
MGA	23269	broad.mit.edu	37	15	42041074	42041074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr15:42041074C>T	ENST00000570161.1	+	15	5452	c.5452C>T	c.(5452-5454)Cga>Tga	p.R1818*	MGA_ENST00000566586.1_Nonsense_Mutation_p.R1609*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R1779*|MGA_ENST00000219905.7_Nonsense_Mutation_p.R1818*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R1609*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R1867*(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCATCAGCTTCGAGGCTCTAA	0.448																																					p.R1818X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C5452T	15						.						118.0	112.0	114.0					15																	42041074		1930	4150	6080	39828366	SO:0001587	stop_gained	23269	exon16			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5452C>T	15.37:g.42041074C>T	ENSP00000457035:p.Arg1818*	Somatic		Capture	Illumina HiSeq	Phase_I	39828366	NM_001164273	Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	36	5.840682	0.97009	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.96	5.04	0.67666	.	0.704526	0.11776	N	0.530607	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6831	0.85298	0.1306:0.8694:0.0:0.0	.	.	.	.	X	1818;1779;1609	.	ENSP00000219905:R1818X	R	+	1	2	MGA	39828366	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.360000	0.59455	1.522000	0.49001	-0.169000	0.13324	CGA		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
MYO5A	4644	broad.mit.edu	37	15	52613688	52613688	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr15:52613688T>C	ENST00000399231.3	-	37	4987	c.4744A>G	c.(4744-4746)Aca>Gca	p.T1582A	MYO5A_ENST00000356338.6_Missense_Mutation_p.T1555A|MYO5A_ENST00000358212.6_Missense_Mutation_p.T1607A|MYO5A_ENST00000553916.1_Missense_Mutation_p.T1580A|MYO5A_ENST00000399233.2_Missense_Mutation_p.T1579A	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1582	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.T1582A(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGGCGAGATGTGTTGTGCTTC	0.453																																					p.T1582A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4744G	15						.						139.0	138.0	138.0					15																	52613688		2049	4208	6257	50400980	SO:0001583	missense	4644	exon37				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4744A>G	15.37:g.52613688T>C	ENSP00000382177:p.Thr1582Ala	Somatic		Capture	Illumina HiSeq	Phase_I	50400980	NM_000259	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.014908	0.75161	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	4.93	4.93	0.64822	Dilute (1);	0.106321	0.64402	D	0.000005	T	0.46229	0.1382	M	0.83384	2.64	0.80722	D	1	P;P;P	0.46706	0.717;0.883;0.587	B;P;B	0.51866	0.303;0.682;0.197	T	0.54016	-0.8356	10	0.66056	D	0.02	.	14.8854	0.70564	0.0:0.0:0.0:1.0	.	312;1582;1555	B5LY56;Q9Y4I1;Q9Y4I1-2	.;MYO5A_HUMAN;.	A	1582;1089;1579;1555;1607;1185;1580	ENSP00000382177:T1582A;ENSP00000382179:T1579A;ENSP00000348693:T1555A;ENSP00000350945:T1607A;ENSP00000451109:T1580A	ENSP00000348693:T1555A	T	-	1	0	MYO5A	50400980	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	6.201000	0.72124	1.977000	0.57605	0.460000	0.39030	ACA		0.453	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	
ZNF609	23060	broad.mit.edu	37	15	64968011	64968011	+	Silent	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr15:64968011C>T	ENST00000326648.3	+	4	3086	c.2958C>T	c.(2956-2958)agC>agT	p.S986S		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	986						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.S986S(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGGCTACAGCGACCAGAGTT	0.557																																					p.S986S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2958T	15						.						204.0	194.0	197.0					15																	64968011		2203	4299	6502	62755064	SO:0001819	synonymous_variant	23060	exon4			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2958C>T	15.37:g.64968011C>T		Somatic		Capture	Illumina HiSeq	Phase_I	62755064	NM_015042	Q0D2I2	Silent	SNP	ENST00000326648.3	37	CCDS32270.1																																																																																				0.557	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833	
VPS9D1	9605	broad.mit.edu	37	16	89778932	89778933	+	Splice_Site	INS	-	-	G	rs143123169|rs530744785		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	-	-	-	-	-	-	Unknown	Wildtype	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr16:89778932_89778933insG	ENST00000389386.3	-	6	668		c.e6-2		VPS9D1_ENST00000561976.1_Splice_Site|VPS9D1_ENST00000565452.1_5'Flank|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1						ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										AGAGAGGGTCTGGGGGGGGAGG	0.668																																					.												.	.	0			.	16						.																																			88306434	SO:0001630	splice_region_variant	9605	.			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.544-2->C	16.37:g.89778940_89778940dupG		None		Capture	Illumina HiSeq	Phase_I	88306433	.		Splice_Site	INS	ENST00000389386.3	37	CCDS42220.1																																																																																				0.668	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913	Intron
PDILT	204474	broad.mit.edu	37	16	20396088	20396088	+	Silent	SNP	G	G	A	rs566608055		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr16:20396088G>A	ENST00000302451.4	-	3	536	c.288C>T	c.(286-288)atC>atT	p.I96I	RP11-429K17.1_ENST00000577173.1_RNA	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	96					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.I96I(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGCCAAAGCCGATCCCATTCT	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20299	0.0		0.0	False		,,,				2504	0.001				p.I96I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C288T	16						.						324.0	315.0	319.0					16																	20396088		2203	4300	6503	20303589	SO:0001819	synonymous_variant	204474	exon3				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.288C>T	16.37:g.20396088G>A		Somatic		Capture	Illumina HiSeq	Phase_I	20303589	NM_174924	Q8IVQ5	Silent	SNP	ENST00000302451.4	37	CCDS10584.1																																																																																				0.498	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
ATP2A1	487	broad.mit.edu	37	16	28906274	28906274	+	Splice_Site	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr16:28906274G>A	ENST00000357084.3	+	12	1686	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	ATP2A1_ENST00000395503.4_Splice_Site_p.S473S|ATP2A1_ENST00000536376.1_Splice_Site_p.S348S	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	473					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)	p.S473S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCTGCAACTCGGTGAGCCTGC	0.602																																					p.S473S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1419A	16						.						48.0	48.0	48.0					16																	28906274		2197	4300	6497	28813775	SO:0001630	splice_region_variant	487	exon12				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1419+1G>A	16.37:g.28906274G>A		Somatic		Capture	Illumina HiSeq	Phase_I	28813775	NM_004320	A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	CCDS10643.1																																																																																				0.602	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320	Silent
ST3GAL2	6483	broad.mit.edu	37	16	70432188	70432188	+	Silent	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr16:70432188G>A	ENST00000393640.4	-	1	2353	c.246C>T	c.(244-246)tcC>tcT	p.S82S	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.S82S|ST3GAL2_ENST00000566097.1_5'Flank			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	82					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)	p.S82S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CAAACCAGTCGGAGGCACCGG	0.627																																					p.S82S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C246T	16						.						65.0	62.0	63.0					16																	70432188		2198	4300	6498	68989689	SO:0001819	synonymous_variant	6483	exon2			U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"""Sialyltransferases"""	10863	protein-coding gene	gene with protein product		607188	"""sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.246C>T	16.37:g.70432188G>A		Somatic		Capture	Illumina HiSeq	Phase_I	68989689	NM_006927	O00654	Silent	SNP	ENST00000393640.4	37	CCDS10890.1																																																																																				0.627	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927	
PLCG2	5336	broad.mit.edu	37	16	81927336	81927336	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr16:81927336C>T	ENST00000359376.3	+	12	1223	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	337	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.R337W(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGACCAGCTGCGGAGCGAGTC	0.622																																					p.R337W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1009T	16						.						56.0	59.0	58.0					16																	81927336		2150	4271	6421	80484837	SO:0001583	missense	5336	exon12				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1009C>T	16.37:g.81927336C>T	ENSP00000352336:p.Arg337Trp	Somatic		Capture	Illumina HiSeq	Phase_I	80484837	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707496	0.68615	.	.	ENSG00000197943	ENST00000359376	T	0.63744	-0.06	3.71	3.71	0.42584	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.130602	0.52532	D	0.000068	T	0.71264	0.3319	L	0.54965	1.715	0.51012	D	0.999903	D;D	0.89917	0.999;1.0	D;D	0.70935	0.948;0.971	T	0.73480	-0.3969	10	0.72032	D	0.01	.	10.1726	0.42920	0.0:0.904:0.0:0.096	.	204;337	B4E3H3;P16885	.;PLCG2_HUMAN	W	337	ENSP00000352336:R337W	ENSP00000352336:R337W	R	+	1	2	PLCG2	80484837	0.786000	0.28738	1.000000	0.80357	0.896000	0.52359	1.173000	0.31920	2.034000	0.60081	0.467000	0.42956	CGG		0.622	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
TRIM16	10626	broad.mit.edu	37	17	15532481	15532481	+	Silent	SNP	T	T	C			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr17:15532481T>C	ENST00000578237.1	-	11	1998	c.1143A>G	c.(1141-1143)acA>acG	p.T381T	TRIM16_ENST00000579219.1_Missense_Mutation_p.Q78R|TRIM16_ENST00000577886.1_Silent_p.T165T|TRIM16_ENST00000416464.2_Silent_p.T251T|RP11-385D13.1_ENST00000455584.2_Silent_p.T381T|TRIM16_ENST00000336708.7_Silent_p.T381T			O95361	TRI16_HUMAN	tripartite motif containing 16	381	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)	p.T381T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		ACTTGTGTGCTGTGTCCGGGT	0.557																																					p.T381T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1143G	17						.						70.0	65.0	67.0					17																	15532481		2203	4300	6503	15473206	SO:0001819	synonymous_variant	10626	exon9			AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1143A>G	17.37:g.15532481T>C		Somatic		Capture	Illumina HiSeq	Phase_I	15473206	NM_006470	Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Silent	SNP	ENST00000578237.1	37	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	8.859	0.946548	0.18356	.	.	ENSG00000251537	ENST00000455584	.	.	.	4.53	-7.81	0.01210	.	.	.	.	.	T	0.35422	0.0931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41251	-0.9519	4	.	.	.	.	2.7165	0.05189	0.1052:0.1846:0.2099:0.5003	.	.	.	.	R	396	.	.	Q	-	2	0	RP11-385D13.1	15473206	0.000000	0.05858	0.941000	0.38009	0.805000	0.45488	-4.064000	0.00302	-1.281000	0.02399	-1.101000	0.02118	CAG		0.557	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470	
PLD2	5338	broad.mit.edu	37	17	4720493	4720493	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr17:4720493C>A	ENST00000263088.6	+	17	1885	c.1754C>A	c.(1753-1755)tCt>tAt	p.S585Y	PLD2_ENST00000572940.1_Missense_Mutation_p.S585Y	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	585	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.S585Y(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CTTCCCAAGTCTACCAGCACG	0.607																																					p.S585Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1754A	17						.						276.0	234.0	248.0					17																	4720493		2203	4300	6503	4667459	SO:0001583	missense	5338	exon17			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1754C>A	17.37:g.4720493C>A	ENSP00000263088:p.Ser585Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	4667459	NM_002663	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890652	0.52014	.	.	ENSG00000129219	ENST00000263088	T	0.08193	3.12	4.48	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.997	P;D;D	0.76071	0.898;0.987;0.929	T	0.04053	-1.0981	10	0.87932	D	0	-12.958	5.9713	0.19353	0.0:0.7004:0.1963:0.1034	.	442;585;585	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	Y	585	ENSP00000263088:S585Y	ENSP00000263088:S585Y	S	+	2	0	PLD2	4667459	0.998000	0.40836	0.998000	0.56505	0.361000	0.29550	4.070000	0.57548	1.061000	0.40601	0.555000	0.69702	TCT		0.607	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663	
AOC2	314	broad.mit.edu	37	17	40997900	40997900	+	Silent	SNP	T	T	G			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr17:40997900T>G	ENST00000253799.3	+	1	1284	c.1257T>G	c.(1255-1257)ctT>ctG	p.L419L	AOC2_ENST00000452774.2_Silent_p.L419L	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	419					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.L419L(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCCAGCTGCTTCCAGGGGCTG	0.552																																					p.L419L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1257G	17						.						54.0	53.0	54.0					17																	40997900		2203	4300	6503	38251426	SO:0001819	synonymous_variant	314	exon1			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1257T>G	17.37:g.40997900T>G		Somatic		Capture	Illumina HiSeq	Phase_I	38251426	NM_001158	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Silent	SNP	ENST00000253799.3	37	CCDS11443.1																																																																																				0.552	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158	
TEX14	56155	broad.mit.edu	37	17	56699085	56699085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr17:56699085G>T	ENST00000240361.8	-	5	565	c.480C>A	c.(478-480)taC>taA	p.Y160*	TEX14_ENST00000349033.5_Nonsense_Mutation_p.Y160*|TEX14_ENST00000389934.3_Nonsense_Mutation_p.Y160*			Q8IWB6	TEX14_HUMAN	testis expressed 14	160					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.Y160*(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAGGAGGTCGTAAGAGAAGC	0.602																																					p.Y160X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C480A	17						.						87.0	73.0	78.0					17																	56699085		2203	4300	6503	54054084	SO:0001587	stop_gained	56155	exon5			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.480C>A	17.37:g.56699085G>T	ENSP00000240361:p.Tyr160*	Somatic		Capture	Illumina HiSeq	Phase_I	54054084	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Nonsense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610467	0.28712	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	.	.	.	5.42	-6.92	0.01644	.	1.040740	0.07540	N	0.913695	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.4183	8.1228	0.30982	0.576:0.1799:0.2441:0.0	.	.	.	.	X	160	.	ENSP00000240361:Y160X	Y	-	3	2	TEX14	54054084	0.000000	0.05858	0.003000	0.11579	0.293000	0.27360	-0.542000	0.06091	-1.183000	0.02723	-2.443000	0.00211	TAC		0.602	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
TNK1	8711	broad.mit.edu	37	17	7291767	7291767	+	Missense_Mutation	SNP	G	G	A	rs369367062		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr17:7291767G>A	ENST00000576812.1	+	11	1904	c.1535G>A	c.(1534-1536)cGt>cAt	p.R512H	TNK1_ENST00000570896.1_Missense_Mutation_p.R507H|TNK1_ENST00000311668.2_Missense_Mutation_p.R507H	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1									p.R512H(1)		central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CTCGGTCCTCGTCCCACAGGG	0.612																																					p.R507H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1520A	17						.	G	HIS/ARG	0,4094		0,0,2047	40.0	49.0	46.0		1520	2.2	1.0	17		46	1,8369		0,1,4184	no	missense	TNK1	NM_003985.3	29	0,1,6231	AA,AG,GG		0.0119,0.0,0.0080	benign	507/662	7291767	1,12463	2047	4185	6232	7232491	SO:0001583	missense	8711	exon11			U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1535G>A	17.37:g.7291767G>A	ENSP00000459799:p.Arg512His	Somatic		Capture	Illumina HiSeq	Phase_I	7232491	NM_003985		Missense_Mutation	SNP	ENST00000576812.1	37	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	8.477	0.858849	0.17178	0.0	1.19E-4	ENSG00000174292	ENST00000311668	T	0.77750	-1.12	4.18	2.19	0.27852	.	0.491983	0.16923	N	0.194009	T	0.56077	0.1961	N	0.08118	0	0.27667	N	0.946899	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.49072	-0.8977	10	0.39692	T	0.17	.	8.7351	0.34523	0.191:0.0:0.809:0.0	.	507;512	Q13470-2;Q13470	.;TNK1_HUMAN	H	507	ENSP00000312309:R507H	ENSP00000312309:R507H	R	+	2	0	TNK1	7232491	0.008000	0.16893	0.988000	0.46212	0.391000	0.30476	1.609000	0.36858	0.728000	0.32382	-0.137000	0.14449	CGT		0.612	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985	
HEATR6	63897	broad.mit.edu	37	17	58145019	58145019	+	Silent	SNP	A	A	G			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr17:58145019A>G	ENST00000184956.6	-	8	1030	c.1014T>C	c.(1012-1014)ggT>ggC	p.G338G	HEATR6_ENST00000585976.1_Silent_p.G338G	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	338							poly(A) RNA binding (GO:0044822)	p.G338G(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CCTCTATTTCACCACTGGATT	0.468																																					p.G338G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1014C	17						.						137.0	127.0	130.0					17																	58145019		2203	4300	6503	55499801	SO:0001819	synonymous_variant	63897	exon8			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1014T>C	17.37:g.58145019A>G		Somatic		Capture	Illumina HiSeq	Phase_I	55499801	NM_022070	B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	ENST00000184956.6	37	CCDS11623.1																																																																																				0.468	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070	
KCTD1	284252	broad.mit.edu	37	18	24035851	24035851	+	Silent	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr18:24035851C>T	ENST00000408011.3	-	5	1189	c.630G>A	c.(628-630)ttG>ttA	p.L210L	KCTD1_ENST00000417602.1_Silent_p.L818L|KCTD1_ENST00000579973.1_Silent_p.L210L|KCTD1_ENST00000580059.1_Silent_p.L210L|KCTD1_ENST00000317932.7_Silent_p.L210L	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	210					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.L210L(1)|p.L818L(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CTCTTTGCTGCAACCTCTCGA	0.547																																					p.L210L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G630A	18						.						59.0	50.0	53.0					18																	24035851		2203	4300	6503	22289849	SO:0001819	synonymous_variant	284252	exon6			AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.630G>A	18.37:g.24035851C>T		Somatic		Capture	Illumina HiSeq	Phase_I	22289849	NM_198991	A8K1F5	Silent	SNP	ENST00000408011.3	37	CCDS11888.1																																																																																				0.547	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091	
NOTCH3	4854	broad.mit.edu	37	19	15302789	15302789	+	Missense_Mutation	SNP	C	C	T	rs530724830		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr19:15302789C>T	ENST00000263388.2	-	4	736	c.661G>A	c.(661-663)Gac>Aac	p.D221N		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	221	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.D221N(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGGCACAGTCGTAAGTGAGG	0.652																																					p.D221N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G661A	19						.						56.0	50.0	52.0					19																	15302789		2203	4300	6503	15163789	SO:0001583	missense	4854	exon4			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.661G>A	19.37:g.15302789C>T	ENSP00000263388:p.Asp221Asn	Somatic		Capture	Illumina HiSeq	Phase_I	15163789	NM_000435	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	c	15.46	2.839812	0.51057	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.87491	-2.26	5.35	5.35	0.76521	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.65984	0.2744	N	0.00765	-1.205	0.43719	D	0.99619	P;P	0.51653	0.584;0.947	B;B	0.39094	0.141;0.29	T	0.76280	-0.3017	9	0.45353	T	0.12	.	13.5663	0.61819	0.0:0.8435:0.1565:0.0	.	224;221	Q59FL3;Q9UM47	.;NOTC3_HUMAN	N	221;223	ENSP00000263388:D221N	ENSP00000263388:D221N	D	-	1	0	NOTCH3	15163789	1.000000	0.71417	0.901000	0.35422	0.141000	0.21300	5.905000	0.69893	2.509000	0.84616	0.558000	0.71614	GAC		0.652	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
BRD4	23476	broad.mit.edu	37	19	15376389	15376389	+	Missense_Mutation	SNP	G	G	C	rs201864530		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr19:15376389G>C	ENST00000263377.2	-	5	846	c.625C>G	c.(625-627)Cag>Gag	p.Q209E	BRD4_ENST00000371835.4_Missense_Mutation_p.Q209E|BRD4_ENST00000360016.5_Missense_Mutation_p.Q209E|BRD4_ENST00000602230.1_5'Flank	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	209					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.Q209E(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGAGGGGTCTGGGTCTGCGGA	0.577			T	C15orf55	lethal midline carcinoma of young people																																p.Q209E			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C625G	19						.						258.0	274.0	269.0					19																	15376389		2203	4300	6503	15237389	SO:0001583	missense	23476	exon5			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.625C>G	19.37:g.15376389G>C	ENSP00000263377:p.Gln209Glu	Somatic		Capture	Illumina HiSeq	Phase_I	15237389	NM_014299	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	8.106	0.777712	0.16120	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.30448	1.53;3.18;3.15	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000016	T	0.21841	0.0526	L	0.44542	1.39	0.28752	N	0.901363	B;B;B	0.32382	0.231;0.368;0.231	B;B;B	0.29663	0.054;0.105;0.05	T	0.17623	-1.0363	10	0.05525	T	0.97	-18.9057	13.0731	0.59072	0.0:0.0:0.839:0.1609	.	209;209;209	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	E	209	ENSP00000263377:Q209E;ENSP00000360901:Q209E;ENSP00000353112:Q209E	ENSP00000263377:Q209E	Q	-	1	0	BRD4	15237389	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.778000	0.68940	2.630000	0.89119	0.462000	0.41574	CAG		0.577	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243	
SCN1B	6324	broad.mit.edu	37	19	35523524	35523524	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr19:35523524C>T	ENST00000262631.5	+	2	270	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000415950.3_Missense_Mutation_p.R45C|SCN1B_ENST00000595652.1_Missense_Mutation_p.R45C	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	45	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)	p.R45C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCCTGCAAGCGCCGCAGCGA	0.622																																					p.R45C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C133T	19						.						144.0	137.0	139.0					19																	35523524		2203	4300	6503	40215364	SO:0001583	missense	6324	exon2				CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.133C>T	19.37:g.35523524C>T	ENSP00000262631:p.Arg45Cys	Somatic		Capture	Illumina HiSeq	Phase_I	40215364	NM_001037	Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	CCDS12441.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139593	0.37728	.	.	ENSG00000105711	ENST00000262631;ENST00000415950	D;D	0.94457	-3.43;-3.43	3.82	2.76	0.32466	Immunoglobulin (1);Immunoglobulin-like fold (1);	0.247932	0.31847	N	0.006961	D	0.93930	0.8057	L	0.34521	1.04	0.50039	D	0.999841	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.74674	0.92;0.912;0.984	D	0.91917	0.5544	10	0.45353	T	0.12	-25.1532	8.4166	0.32674	0.2335:0.7665:0.0:0.0	.	45;45;45	B4DI92;Q07699;Q07699-2	.;SCN1B_HUMAN;.	C	45	ENSP00000262631:R45C;ENSP00000396915:R45C	ENSP00000262631:R45C	R	+	1	0	SCN1B	40215364	0.997000	0.39634	0.972000	0.41901	0.027000	0.11550	2.689000	0.46993	0.797000	0.33971	-0.311000	0.09066	CGC		0.622	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1		
ZNF345	25850	broad.mit.edu	37	19	37368230	37368230	+	Silent	SNP	C	C	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr19:37368230C>A	ENST00000529555.1	+	2	1286	c.498C>A	c.(496-498)atC>atA	p.I166I	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Silent_p.I166I|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Silent_p.I166I			Q14585	ZN345_HUMAN	zinc finger protein 345	166					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I166I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GACATCAGATCATTCACAGTG	0.423																																					p.I166I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C498A	19						.						77.0	72.0	74.0					19																	37368230		2203	4300	6503	42060070	SO:0001819	synonymous_variant	25850	exon3			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.498C>A	19.37:g.37368230C>A		Somatic		Capture	Illumina HiSeq	Phase_I	42060070	NM_003419		Silent	SNP	ENST00000529555.1	37	CCDS12497.1																																																																																				0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1		
CD209	30835	broad.mit.edu	37	19	7811360	7811360	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr19:7811360C>T	ENST00000315599.7	-	3	186	c.164G>A	c.(163-165)gGg>gAg	p.G55E	CD209_ENST00000354397.6_Missense_Mutation_p.G55E|CD209_ENST00000602261.1_Missense_Mutation_p.G55E|CD209_ENST00000301357.8_Intron|CD209_ENST00000601256.1_Intron|CD209_ENST00000601951.1_Intron|CD209_ENST00000394161.5_Missense_Mutation_p.G55E|CD209_ENST00000593821.1_Intron|CD209_ENST00000315591.8_Intron|CD209_ENST00000204801.8_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.G55E|CD209_ENST00000593660.1_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	55					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.G55E(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GACAAGGAGCCCAGCCAAGAG	0.637																																					p.G55E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G164A	19						.						135.0	113.0	121.0					19																	7811360		2203	4300	6503	7717360	SO:0001583	missense	30835	exon3			M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.164G>A	19.37:g.7811360C>T	ENSP00000315477:p.Gly55Glu	Somatic		Capture	Illumina HiSeq	Phase_I	7717360	NM_001144895	A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031198	0.35797	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000394173;ENST00000394161;ENST00000540789	T;T;T;T	0.10960	3.57;4.03;3.9;2.82	2.59	-1.79	0.07932	.	.	.	.	.	T	0.25865	0.0630	M	0.74647	2.275	0.09310	N	1	B;D;B;B;B;B	0.76494	0.043;0.999;0.016;0.016;0.043;0.119	B;D;B;B;B;B	0.67548	0.02;0.952;0.02;0.02;0.02;0.092	T	0.08289	-1.0729	9	0.51188	T	0.08	.	8.5337	0.33351	0.713:0.287:0.0:0.0	.	55;55;55;55;55;55	B2R907;Q9NNX6-4;Q9NNX6-2;G5E9C4;Q9NNX6;Q9NNX6-5	.;.;.;.;CD209_HUMAN;.	E	55;55;55;55;35	ENSP00000315477:G55E;ENSP00000346373:G55E;ENSP00000377728:G55E;ENSP00000377716:G55E	ENSP00000315477:G55E	G	-	2	0	CD209	7717360	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-1.299000	0.02754	-0.283000	0.09115	0.557000	0.71058	GGG		0.637	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155	
ELAVL1	1994	broad.mit.edu	37	19	8028686	8028686	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr19:8028686G>A	ENST00000407627.2	-	6	791	c.662C>T	c.(661-663)tCc>tTc	p.S221F	ELAVL1_ENST00000351593.5_Missense_Mutation_p.S248F|ELAVL1_ENST00000593807.1_3'UTR|ELAVL1_ENST00000596459.1_Missense_Mutation_p.S221F	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	221					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)	p.S221F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCCCATGGGGGAGAACCTGGC	0.652																																					p.S221F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C662T	19						.						29.0	25.0	27.0					19																	8028686		2203	4300	6503	7934686	SO:0001583	missense	1994	exon6			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.662C>T	19.37:g.8028686G>A	ENSP00000385269:p.Ser221Phe	Somatic		Capture	Illumina HiSeq	Phase_I	7934686	NM_001419	B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	ENST00000407627.2	37	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997870	0.74818	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.17370	2.29;2.28	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.88640	2.97	0.80722	D	1	D	0.71674	0.998	P	0.60286	0.872	T	0.50701	-0.8797	10	0.54805	T	0.06	.	17.6515	0.88165	0.0:0.0:1.0:0.0	.	221	Q15717	ELAV1_HUMAN	F	221;248	ENSP00000385269:S221F;ENSP00000264073:S248F	ENSP00000264073:S248F	S	-	2	0	ELAVL1	7934686	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.767000	0.95098	0.655000	0.94253	TCC		0.652	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419	
SIGLEC8	27181	broad.mit.edu	37	19	51961535	51961535	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr19:51961535G>A	ENST00000321424.3	-	1	173	c.107C>T	c.(106-108)aCg>aTg	p.T36M	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.T36M|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.T36M|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	36					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.T36M(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCCTGCACCGTCACCAGCTC	0.607																																					p.T36M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C107T	19						.						129.0	116.0	120.0					19																	51961535		2203	4300	6503	56653347	SO:0001583	missense	27181	exon1			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.107C>T	19.37:g.51961535G>A	ENSP00000321077:p.Thr36Met	Somatic		Capture	Illumina HiSeq	Phase_I	56653347	NM_014442	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	8.593	0.885114	0.17540	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.51325	0.71;0.71;0.71	2.14	-1.41	0.08941	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.331220	0.05510	N	0.559980	T	0.57257	0.2041	M	0.79475	2.455	0.09310	N	1	P;B;D	0.63880	0.867;0.231;0.993	B;B;P	0.55785	0.388;0.015;0.784	T	0.49513	-0.8932	10	0.27082	T	0.32	.	5.0744	0.14622	0.4966:0.0:0.5034:0.0	.	36;36;36	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	M	36	ENSP00000389142:T36M;ENSP00000321077:T36M;ENSP00000339448:T36M	ENSP00000321077:T36M	T	-	2	0	SIGLEC8	56653347	0.000000	0.05858	0.006000	0.13384	0.504000	0.33889	-2.020000	0.01441	-0.247000	0.09597	-0.357000	0.07601	ACG		0.607	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	
DBT	1629	broad.mit.edu	37	1	100680397	100680397	+	Silent	SNP	G	G	C			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr1:100680397G>C	ENST00000370132.4	-	7	928	c.915C>G	c.(913-915)ctC>ctG	p.L305L	DBT_ENST00000370131.3_Silent_p.L305L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	305					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)	p.L305L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GCATAAAGGAGAGTTTAATTC	0.353																																					p.L305L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C915G	1						.						77.0	75.0	76.0					1																	100680397		2203	4300	6503	100452985	SO:0001819	synonymous_variant	1629	exon7			BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.915C>G	1.37:g.100680397G>C		Somatic		Capture	Illumina HiSeq	Phase_I	100452985	NM_001918	B2R811|Q5VVL8	Silent	SNP	ENST00000370132.4	37	CCDS767.1																																																																																				0.353	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918	
MOV10	4343	broad.mit.edu	37	1	113243071	113243071	+	Missense_Mutation	SNP	G	G	A	rs201257888		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr1:113243071G>A	ENST00000413052.2	+	21	3344	c.2954G>A	c.(2953-2955)cGg>cAg	p.R985Q	MOV10_ENST00000369644.1_Missense_Mutation_p.R929Q|MOV10_ENST00000357443.2_Missense_Mutation_p.R985Q|MOV10_ENST00000369645.1_Missense_Mutation_p.R985Q|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	985					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R985Q(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCCCAGGAGCGGGAGGGTGAA	0.602																																					p.R985Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2954A	1						.	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	71.0	73.0	72.0		2954,2954	-3.0	0.4	1		72	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	MOV10	NM_001130079.1,NM_020963.3	43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	985/1004,985/1004	113243071	2,13004	2203	4300	6503	113044594	SO:0001583	missense	4343	exon21			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2954G>A	1.37:g.113243071G>A	ENSP00000399797:p.Arg985Gln	Somatic		Capture	Illumina HiSeq	Phase_I	113044594	NM_020963	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	5.842	0.339587	0.11069	0.0	2.33E-4	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91631	-2.88;-2.88;-2.87;-2.88	4.59	-2.98	0.05513	.	1.499120	0.03521	N	0.221008	T	0.67896	0.2942	N	0.08118	0	0.39343	D	0.965622	B	0.06786	0.001	B	0.01281	0.0	T	0.46527	-0.9185	10	0.27082	T	0.32	-1.2317	7.3197	0.26521	0.5163:0.0:0.3709:0.1128	.	985	Q9HCE1	MOV10_HUMAN	Q	985;985;929;985;923	ENSP00000399797:R985Q;ENSP00000358659:R985Q;ENSP00000358658:R929Q;ENSP00000350028:R985Q	ENSP00000350028:R985Q	R	+	2	0	MOV10	113044594	0.844000	0.29557	0.366000	0.25914	0.376000	0.30014	-0.179000	0.09768	-0.909000	0.03852	-1.945000	0.00491	CGG		0.602	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	
VPS13D	55187	broad.mit.edu	37	1	12336827	12336827	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr1:12336827G>A	ENST00000358136.3	+	19	3312	c.3182G>A	c.(3181-3183)cGa>cAa	p.R1061Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R1061Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R1061Q(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTGAACGACCGATCAGCTACT	0.468											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R1061Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3182A	1						.						118.0	117.0	117.0					1																	12336827		2203	4300	6503	12259414	SO:0001583	missense	55187	exon19			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.3182G>A	1.37:g.12336827G>A	ENSP00000350854:p.Arg1061Gln	Somatic	679	Capture	Illumina HiSeq	Phase_I	12259414	NM_018156		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.527538	0.00959	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.41065	1.01;1.01	6.14	-7.03	0.01584	.	1.903630	0.02708	N	0.112469	T	0.22360	0.0539	N	0.21097	0.63	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14952	-1.0454	10	0.12430	T	0.62	.	4.7582	0.13095	0.2671:0.4319:0.2168:0.0842	.	1061;1061	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	Q	1061	ENSP00000348666:R1061Q;ENSP00000350854:R1061Q	ENSP00000348666:R1061Q	R	+	2	0	VPS13D	12259414	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.664000	0.05292	-1.925000	0.01063	-0.203000	0.12734	CGA		0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
TBX15	6913	broad.mit.edu	37	1	119427675	119427675	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr1:119427675C>T	ENST00000369429.3	-	8	1498	c.1489G>A	c.(1489-1491)Ggg>Agg	p.G497R	TBX15_ENST00000207157.3_Missense_Mutation_p.G391R			Q96SF7	TBX15_HUMAN	T-box 15	497					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.G391R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TGGCTGCCCCCGAACATGTGT	0.557																																					p.G391R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1171A	1						.						58.0	50.0	53.0					1																	119427675		2203	4300	6503	119229198	SO:0001583	missense	6913	exon8			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1489G>A	1.37:g.119427675C>T	ENSP00000358437:p.Gly497Arg	Somatic		Capture	Illumina HiSeq	Phase_I	119229198	NM_152380	Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37		.	.	.	.	.	.	.	.	.	.	C	13.76	2.333878	0.41297	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873	D;D;T	0.87887	-2.31;-2.19;-1.21	5.31	5.31	0.75309	.	0.181808	0.49916	D	0.000126	T	0.74030	0.3663	N	0.22421	0.69	0.48185	D	0.999604	D;P	0.63880	0.993;0.943	B;B	0.43701	0.428;0.365	T	0.78043	-0.2358	10	0.46703	T	0.11	.	13.443	0.61125	0.0:0.9253:0.0:0.0747	.	294;497	E9PCG3;Q96SF7	.;TBX15_HUMAN	R	294;391;497;225	ENSP00000207157:G391R;ENSP00000358437:G497R;ENSP00000398625:G225R	ENSP00000207157:G391R	G	-	1	0	TBX15	119229198	0.979000	0.34478	1.000000	0.80357	0.987000	0.75469	2.449000	0.44935	2.768000	0.95171	0.561000	0.74099	GGG		0.557	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380	
IQGAP3	128239	broad.mit.edu	37	1	156520102	156520102	+	Silent	SNP	G	G	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr1:156520102G>T	ENST00000361170.2	-	16	1786	c.1776C>A	c.(1774-1776)atC>atA	p.I592I		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	592					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.I592I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCCTGGCGGATCTCCTCAA	0.557																																					p.I592I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1776A	1						.						81.0	70.0	74.0					1																	156520102		2203	4300	6503	154786726	SO:0001819	synonymous_variant	128239	exon16			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1776C>A	1.37:g.156520102G>T		Somatic		Capture	Illumina HiSeq	Phase_I	154786726	NM_178229	Q5T3H8	Silent	SNP	ENST00000361170.2	37	CCDS1144.1																																																																																				0.557	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
RC3H1	149041	broad.mit.edu	37	1	173930315	173930315	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr1:173930315C>T	ENST00000367696.2	-	13	2621	c.2270G>A	c.(2269-2271)cGa>cAa	p.R757Q	RC3H1_ENST00000367694.2_Missense_Mutation_p.R757Q|RC3H1_ENST00000258349.4_Missense_Mutation_p.R757Q			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	757	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R757Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TTCCTTTCGTCGGCGATGTAG	0.453																																					p.R757Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2270A	1						.						175.0	168.0	171.0					1																	173930315		2203	4300	6503	172196938	SO:0001583	missense	149041	exon12			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2270G>A	1.37:g.173930315C>T	ENSP00000356669:p.Arg757Gln	Somatic		Capture	Illumina HiSeq	Phase_I	172196938	NM_172071	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	36	5.779061	0.96929	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.56941	0.43;0.43;0.43	5.65	5.65	0.86999	.	0.111829	0.64402	D	0.000019	T	0.64768	0.2628	L	0.55481	1.735	0.53688	D	0.999977	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77557	0.978;0.978;0.99;0.978	T	0.64605	-0.6368	10	0.56958	D	0.05	-3.9185	19.7207	0.96142	0.0:1.0:0.0:0.0	.	757;757;757;757	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	Q	757	ENSP00000356669:R757Q;ENSP00000258349:R757Q;ENSP00000356667:R757Q	ENSP00000258349:R757Q	R	-	2	0	RC3H1	172196938	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.185000	0.77714	2.661000	0.90470	0.655000	0.94253	CGA		0.453	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071	
LAMC2	3918	broad.mit.edu	37	1	183212369	183212369	+	Missense_Mutation	SNP	G	G	A	rs144652590		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr1:183212369G>A	ENST00000264144.4	+	23	3481	c.3416G>A	c.(3415-3417)cGg>cAg	p.R1139Q		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1139	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.R1139Q(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGCCAACTGCGGCCCATGATG	0.537																																					p.R1139Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3416A	1						.	G	GLN/ARG	0,4406		0,0,2203	80.0	77.0	78.0		3416	3.1	1.0	1	dbSNP_134	78	3,8597	3.0+/-9.4	0,3,4297	yes	missense	LAMC2	NM_005562.2	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	1139/1194	183212369	3,13003	2203	4300	6503	181478992	SO:0001583	missense	3918	exon23			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.3416G>A	1.37:g.183212369G>A	ENSP00000264144:p.Arg1139Gln	Somatic		Capture	Illumina HiSeq	Phase_I	181478992	NM_005562	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499095	0.44455	0.0	3.49E-4	ENSG00000058085	ENST00000264144	T	0.76186	-1.0	5.02	3.12	0.35913	.	0.217987	0.29814	N	0.011126	T	0.61862	0.2381	L	0.53249	1.67	0.35288	D	0.781895	B	0.20052	0.041	B	0.08055	0.003	T	0.58070	-0.7701	10	0.17832	T	0.49	.	5.2515	0.15524	0.4071:0.0:0.5929:0.0	.	1139	Q13753	LAMC2_HUMAN	Q	1139	ENSP00000264144:R1139Q	ENSP00000264144:R1139Q	R	+	2	0	LAMC2	181478992	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.114000	0.50383	1.234000	0.43709	0.650000	0.86243	CGG		0.537	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	
RGL1	23179	broad.mit.edu	37	1	183881360	183881360	+	Silent	SNP	C	C	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr1:183881360C>A	ENST00000360851.3	+	15	1885	c.1707C>A	c.(1705-1707)ggC>ggA	p.G569G	RGL1_ENST00000539189.1_Silent_p.G540G|RGL1_ENST00000304685.4_Silent_p.G604G|RGL1_ENST00000536277.1_Silent_p.G567G			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	569	Ser-rich.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.G604G(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGAGGAGGGCTCCATTACTC	0.527																																					p.G604G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1812A	1						.						74.0	67.0	69.0					1																	183881360		2203	4300	6503	182147983	SO:0001819	synonymous_variant	23179	exon16			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1707C>A	1.37:g.183881360C>A		Somatic		Capture	Illumina HiSeq	Phase_I	182147983	NM_015149	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37																																																																																					0.527	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	
SWT1	54823	broad.mit.edu	37	1	185144184	185144184	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr1:185144184G>A	ENST00000367500.4	+	5	1070	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	SWT1_ENST00000367501.3_Missense_Mutation_p.R302Q	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	302								p.R302Q(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GAGTGGAAACGAAAACATCAT	0.348																																					p.R302Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G905A	1						.						38.0	40.0	39.0					1																	185144184		2203	4298	6501	183410807	SO:0001583	missense	54823	exon5			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.905G>A	1.37:g.185144184G>A	ENSP00000356470:p.Arg302Gln	Somatic		Capture	Illumina HiSeq	Phase_I	183410807	NM_001105518	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270761	0.40194	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.17213	2.29;2.29	5.76	2.41	0.29592	.	0.964631	0.08608	N	0.920449	T	0.10680	0.0261	L	0.34521	1.04	0.09310	N	1	B	0.29115	0.233	B	0.17098	0.017	T	0.36529	-0.9744	10	0.13108	T	0.6	.	6.0281	0.19665	0.3842:0.0:0.6158:0.0	.	302	Q5T5J6	SWT1_HUMAN	Q	302	ENSP00000356471:R302Q;ENSP00000356470:R302Q	ENSP00000356470:R302Q	R	+	2	0	SWT1	183410807	0.006000	0.16342	0.055000	0.19348	0.454000	0.32378	0.320000	0.19540	0.638000	0.30545	0.650000	0.86243	CGA		0.348	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	
DISP1	84976	broad.mit.edu	37	1	223178953	223178953	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr1:223178953C>T	ENST00000284476.6	+	8	4378	c.4214C>T	c.(4213-4215)aCg>aTg	p.T1405M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1405					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.T1405M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTACTCAAAACGTGTTGCGAC	0.468																																					p.T1405M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4214T	1						.						75.0	77.0	77.0					1																	223178953		2203	4300	6503	221245576	SO:0001583	missense	84976	exon8			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4214C>T	1.37:g.223178953C>T	ENSP00000284476:p.Thr1405Met	Somatic		Capture	Illumina HiSeq	Phase_I	221245576	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	c	10.04	1.242354	0.22796	.	.	ENSG00000154309	ENST00000284476	D	0.91577	-2.87	5.95	3.07	0.35406	.	0.792616	0.12004	N	0.508572	T	0.79747	0.4499	N	0.14661	0.345	0.09310	N	1	B	0.28998	0.23	B	0.24974	0.057	T	0.69405	-0.5154	10	0.59425	D	0.04	-8.4933	3.9118	0.09207	0.1214:0.5099:0.2353:0.1335	.	1405	Q96F81	DISP1_HUMAN	M	1405	ENSP00000284476:T1405M	ENSP00000284476:T1405M	T	+	2	0	DISP1	221245576	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	0.189000	0.17037	0.415000	0.25817	-0.119000	0.15052	ACG		0.468	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
TMEM57	55219	broad.mit.edu	37	1	25812259	25812259	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr1:25812259G>A	ENST00000374343.4	+	8	1648	c.1469G>A	c.(1468-1470)cGg>cAg	p.R490Q	TMEM57_ENST00000399763.3_Missense_Mutation_p.R132Q|TMEM57_ENST00000399766.3_Missense_Mutation_p.R263Q	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	490					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)		p.R490Q(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCTGCCCGGGCTGTTGCG	0.448																																					p.R490Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1469A	1						.						85.0	97.0	93.0					1																	25812259		2203	4300	6503	25684846	SO:0001583	missense	55219	exon8			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1469G>A	1.37:g.25812259G>A	ENSP00000363463:p.Arg490Gln	Somatic		Capture	Illumina HiSeq	Phase_I	25684846	NM_018202	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017664	0.93404	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	T;T	0.80214	-1.35;2.6	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87192	0.6116	L	0.49350	1.555	0.80722	D	1	D;D;D	0.89917	0.999;0.963;1.0	P;P;D	0.87578	0.895;0.488;0.998	T	0.82000	-0.0674	10	0.21014	T	0.42	-10.8389	19.8676	0.96824	0.0:0.0:1.0:0.0	.	132;263;490	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	Q	263;132;490	ENSP00000382668:R263Q;ENSP00000363463:R490Q	ENSP00000363463:R490Q	R	+	2	0	TMEM57	25684846	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	9.377000	0.97184	2.941000	0.99782	0.655000	0.94253	CGG		0.448	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202	
EFCAB7	84455	broad.mit.edu	37	1	63999207	63999207	+	Missense_Mutation	SNP	G	G	A	rs372824134		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr1:63999207G>A	ENST00000371088.4	+	5	815	c.569G>A	c.(568-570)cGt>cAt	p.R190H		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	190							calcium ion binding (GO:0005509)	p.R190H(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AAATTGATGCGTCACCAGTTT	0.388																																					p.R190H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G569A	1						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	121.0	128.0	126.0		569	2.7	1.0	1		126	0,8600		0,0,4300	no	missense	EFCAB7	NM_032437.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	190/630	63999207	1,13005	2203	4300	6503	63771795	SO:0001583	missense	84455	exon5			BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.569G>A	1.37:g.63999207G>A	ENSP00000360129:p.Arg190His	Somatic		Capture	Illumina HiSeq	Phase_I	63771795	NM_032437	Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	G	5.603	0.295955	0.10622	2.27E-4	0.0	ENSG00000203965	ENST00000371088	T	0.59906	0.23	5.93	2.69	0.31865	.	0.194875	0.52532	D	0.000070	T	0.22742	0.0549	L	0.31065	0.9	0.80722	D	1	B	0.23490	0.086	B	0.15052	0.012	T	0.09952	-1.0651	10	0.49607	T	0.09	-4.0918	5.8634	0.18760	0.1444:0.1079:0.625:0.1226	.	190	A8K855	EFCB7_HUMAN	H	190	ENSP00000360129:R190H	ENSP00000360129:R190H	R	+	2	0	EFCAB7	63771795	1.000000	0.71417	0.994000	0.49952	0.079000	0.17450	2.306000	0.43673	0.815000	0.34398	0.655000	0.94253	CGT		0.388	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437	
PDE4B	5142	broad.mit.edu	37	1	66829220	66829220	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr1:66829220C>T	ENST00000329654.4	+	12	1437	c.1250C>T	c.(1249-1251)tCg>tTg	p.S417L	PDE4B_ENST00000371045.5_Missense_Mutation_p.S245L|PDE4B_ENST00000480109.2_Missense_Mutation_p.S184L|PDE4B_ENST00000423207.2_Missense_Mutation_p.S402L|PDE4B_ENST00000371049.3_Missense_Mutation_p.S417L	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	417					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.S417L(2)|p.S245L(2)|p.S402L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	GTAGCCCAGTCGACCCATGTT	0.443																																					p.S417L												.	.	6	Substitution - Missense(6)	large_intestine(6)	c.C1250T	1						.						94.0	82.0	86.0					1																	66829220		2203	4300	6503	66601808	SO:0001583	missense	5142	exon12			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1250C>T	1.37:g.66829220C>T	ENSP00000332116:p.Ser417Leu	Somatic		Capture	Illumina HiSeq	Phase_I	66601808	NM_002600	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	CCDS632.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225908	0.79576	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.73	5.73	0.89815	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.78941	0.4363	M	0.68317	2.08	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.998;1.0;1.0;1.0	T	0.79990	-0.1570	10	0.87932	D	0	.	19.4912	0.95050	0.0:1.0:0.0:0.0	.	184;402;287;407;417	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	L	417;417;417;402;245;184	ENSP00000332116:S417L;ENSP00000342637:S417L;ENSP00000360088:S417L;ENSP00000392947:S402L;ENSP00000360084:S245L;ENSP00000432592:S184L	ENSP00000332116:S417L	S	+	2	0	PDE4B	66601808	1.000000	0.71417	0.987000	0.45799	0.145000	0.21501	7.818000	0.86416	2.699000	0.92147	0.655000	0.94253	TCG		0.443	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600	
NID1	4811	broad.mit.edu	37	1	236175231	236175231	+	Silent	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr1:236175231G>A	ENST00000264187.6	-	12	2599	c.2517C>T	c.(2515-2517)tgC>tgT	p.C839C	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	839	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.C839C(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CTCCGGGCACGCAACGGAAGC	0.582																																					p.C839C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2517T	1						.						139.0	111.0	121.0					1																	236175231		2203	4300	6503	234241854	SO:0001819	synonymous_variant	4811	exon12			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2517C>T	1.37:g.236175231G>A		Somatic		Capture	Illumina HiSeq	Phase_I	234241854	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	CCDS1608.1																																																																																				0.582	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
SIGLEC1	6614	broad.mit.edu	37	20	3675468	3675468	+	Missense_Mutation	SNP	C	C	T	rs373105785		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr20:3675468C>T	ENST00000344754.4	-	11	2785	c.2786G>A	c.(2785-2787)cGt>cAt	p.R929H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R929H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	929	Ig-like C2-type 9.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R929H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCGATACCAACGATATGAGGT	0.612																																					p.R929H												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.G2786A	20						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	53.0	56.0	55.0		2786	-5.0	0.0	20		55	0,8600		0,0,4300	no	missense	SIGLEC1	NM_023068.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	929/1710	3675468	1,13005	2203	4300	6503	3623468	SO:0001583	missense	6614	exon11			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2786G>A	20.37:g.3675468C>T	ENSP00000341141:p.Arg929His	Somatic		Capture	Illumina HiSeq	Phase_I	3623468	NM_023068	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459475	0.43736	2.27E-4	0.0	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.12672	2.66;2.66	4.96	-4.98	0.03019	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.268400	0.05790	N	0.610120	T	0.19248	0.0462	L	0.45352	1.415	0.09310	N	1	D;D	0.62365	0.991;0.989	P;P	0.58266	0.836;0.747	T	0.32534	-0.9903	10	0.62326	D	0.03	.	5.0229	0.14370	0.354:0.148:0.0:0.4979	.	929;929	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	H	929	ENSP00000341141:R929H;ENSP00000202578:R929H	ENSP00000202578:R929H	R	-	2	0	SIGLEC1	3623468	0.000000	0.05858	0.019000	0.16419	0.562000	0.35680	-1.761000	0.01805	-0.771000	0.04608	-0.345000	0.07892	CGT		0.612	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	
HNF4A	3172	broad.mit.edu	37	20	43052677	43052677	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr20:43052677T>A	ENST00000316099.4	+	8	1001	c.912T>A	c.(910-912)gaT>gaA	p.D304E	AL132772.1_ENST00000581483.1_RNA|HNF4A_ENST00000415691.2_Missense_Mutation_p.D304E|HNF4A_ENST00000457232.1_Missense_Mutation_p.D282E|HNF4A_ENST00000609795.1_Missense_Mutation_p.D282E|HNF4A_ENST00000316673.4_Missense_Mutation_p.D282E|HNF4A_ENST00000443598.2_Missense_Mutation_p.D304E	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	304					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.D282E(1)|p.D304E(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCTGAGCGATCCAGGGAAGA	0.612																																					p.D282E	Colon(79;2 1269 8820 14841 52347)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T846A	20						.						33.0	24.0	27.0					20																	43052677		2199	4296	6495	42486091	SO:0001583	missense	3172	exon8			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.912T>A	20.37:g.43052677T>A	ENSP00000312987:p.Asp304Glu	Somatic		Capture	Illumina HiSeq	Phase_I	42486091	NM_001030003	A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.730335	0.30684	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47	5.4	4.45	0.53987	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.88570	0.6472	L	0.31157	0.91	0.80722	D	1	B;B;B;B;B;B;B	0.14438	0.01;0.005;0.005;0.001;0.01;0.008;0.0	B;B;B;B;B;B;B	0.15052	0.012;0.005;0.005;0.004;0.012;0.007;0.001	T	0.82212	-0.0569	10	0.20046	T	0.44	.	9.1263	0.36816	0.0:0.7655:0.0:0.2345	.	297;304;304;304;282;282;282	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	E	282;282;304;304;334;304	ENSP00000315180:D282E;ENSP00000396216:D282E;ENSP00000312987:D304E;ENSP00000410911:D304E;ENSP00000412111:D304E	ENSP00000312987:D304E	D	+	3	2	HNF4A	42486091	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	1.036000	0.30228	1.237000	0.43756	-0.468000	0.05107	GAT		0.612	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3		
SLC13A3	64849	broad.mit.edu	37	20	45195025	45195025	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr20:45195025G>A	ENST00000279027.4	-	11	1355	c.1337C>T	c.(1336-1338)tCg>tTg	p.S446L	SLC13A3_ENST00000396360.1_Missense_Mutation_p.S364L|SLC13A3_ENST00000495082.1_Missense_Mutation_p.S399L|SLC13A3_ENST00000472148.1_Missense_Mutation_p.S364L|SLC13A3_ENST00000413164.2_Missense_Mutation_p.S396L|SLC13A3_ENST00000290317.5_Missense_Mutation_p.S399L|SLC13A3_ENST00000435032.1_Missense_Mutation_p.S31L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	446					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.S446L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGACAGCCCCGATTCCTGCGG	0.597																																					p.S396L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1187T	20						.						66.0	66.0	66.0					20																	45195025		2203	4300	6503	44628432	SO:0001583	missense	64849	exon10			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1337C>T	20.37:g.45195025G>A	ENSP00000279027:p.Ser446Leu	Somatic		Capture	Illumina HiSeq	Phase_I	44628432	NM_001193339	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024452	0.93518	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000435032;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915	T;T;T;T;T;T;T;T	0.02890	4.12;4.12;4.12;4.12;4.12;4.12;4.12;4.12	5.38	5.38	0.77491	.	0.117111	0.64402	D	0.000012	T	0.27419	0.0673	H	0.96365	3.81	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0;1.0	T	0.44787	-0.9305	10	0.87932	D	0	-16.6233	19.1315	0.93410	0.0:0.0:1.0:0.0	.	396;31;364;399;348;446	B4DIR8;B4E181;Q8WWT9-3;F6WI18;B4DF27;Q8WWT9	.;.;.;.;.;S13A3_HUMAN	L	399;364;31;446;364;396;399;399	ENSP00000290317:S399L;ENSP00000379648:S364L;ENSP00000403394:S31L;ENSP00000279027:S446L;ENSP00000420177:S364L;ENSP00000415852:S396L;ENSP00000419621:S399L;ENSP00000417784:S399L	ENSP00000279027:S446L	S	-	2	0	SLC13A3	44628432	1.000000	0.71417	0.996000	0.52242	0.614000	0.37383	9.731000	0.98807	2.512000	0.84698	0.655000	0.94253	TCG		0.597	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2		
TFAP2C	7022	broad.mit.edu	37	20	55212914	55212914	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr20:55212914T>A	ENST00000201031.2	+	7	1441	c.1198T>A	c.(1198-1200)Ttt>Att	p.F400I	TFAP2C_ENST00000544508.1_Missense_Mutation_p.F231I	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	400	H-S-H (helix-span-helix), dimerization.				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F400I(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TACCCACGGGTTTGGCAGCCA	0.552																																					p.F400I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1198A	20						.						118.0	106.0	110.0					20																	55212914		2203	4300	6503	54646321	SO:0001583	missense	7022	exon7				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.1198T>A	20.37:g.55212914T>A	ENSP00000201031:p.Phe400Ile	Somatic		Capture	Illumina HiSeq	Phase_I	54646321	NM_003222	B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	T	34	5.398686	0.96030	.	.	ENSG00000087510	ENST00000201031;ENST00000544508	D;D	0.97850	-4.57;-4.57	5.91	5.91	0.95273	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99466	1.0944	10	0.62326	D	0.03	-28.368	16.3483	0.83171	0.0:0.0:0.0:1.0	.	400	Q92754	AP2C_HUMAN	I	400;231	ENSP00000201031:F400I;ENSP00000442274:F231I	ENSP00000201031:F400I	F	+	1	0	TFAP2C	54646321	1.000000	0.71417	0.801000	0.32222	0.979000	0.70002	7.731000	0.84895	2.254000	0.74563	0.533000	0.62120	TTT		0.552	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222	
ZNF831	128611	broad.mit.edu	37	20	57769250	57769250	+	Missense_Mutation	SNP	C	C	A	rs372829780		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr20:57769250C>A	ENST00000371030.2	+	1	3176	c.3176C>A	c.(3175-3177)aCg>aAg	p.T1059K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1059							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T1059K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCACTCCAACGTGTGAGGCA	0.632																																					p.T1059K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3176A	20						.						28.0	33.0	31.0					20																	57769250		2072	4214	6286	57202645	SO:0001583	missense	128611	exon1			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3176C>A	20.37:g.57769250C>A	ENSP00000360069:p.Thr1059Lys	Somatic		Capture	Illumina HiSeq	Phase_I	57202645	NM_178457	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241018	0.22711	.	.	ENSG00000124203	ENST00000371030	T	0.06528	3.29	4.32	-1.27	0.09347	.	2.310940	0.01527	N	0.018621	T	0.07728	0.0194	L	0.40543	1.245	0.09310	N	1	B	0.34015	0.435	B	0.31016	0.123	T	0.41413	-0.9510	10	0.87932	D	0	2.7213	10.0741	0.42349	0.0:0.5997:0.0:0.4003	.	1059	Q5JPB2	ZN831_HUMAN	K	1059	ENSP00000360069:T1059K	ENSP00000360069:T1059K	T	+	2	0	ZNF831	57202645	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.014000	0.12656	-0.782000	0.04541	-1.821000	0.00599	ACG		0.632	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
ADAMTS5	11096	broad.mit.edu	37	21	28338346	28338346	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr21:28338346G>C	ENST00000284987.5	-	1	486	c.365C>G	c.(364-366)gCg>gGg	p.A122G		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	122					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)	p.A122G(1)		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						GCGCCAGGGCGCACTCGTCCC	0.667																																					p.A122G	Esophageal Squamous(53;683 1080 10100 14424 45938)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C365G	21						.						34.0	30.0	31.0					21																	28338346		2201	4296	6497	27260217	SO:0001583	missense	11096	exon1			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.365C>G	21.37:g.28338346G>C	ENSP00000284987:p.Ala122Gly	Somatic		Capture	Illumina HiSeq	Phase_I	27260217	NM_007038	Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	1.578	-0.532454	0.04112	.	.	ENSG00000154736	ENST00000284987	T	0.06687	3.27	4.18	1.17	0.20885	Peptidase M12B, propeptide (1);	0.238541	0.36628	N	0.002482	T	0.03220	0.0094	N	0.11560	0.145	0.09310	N	1	B	0.26902	0.163	B	0.26310	0.068	T	0.44251	-0.9340	10	0.13108	T	0.6	.	4.2527	0.10702	0.092:0.1542:0.5951:0.1587	.	122	Q9UNA0	ATS5_HUMAN	G	122	ENSP00000284987:A122G	ENSP00000284987:A122G	A	-	2	0	ADAMTS5	27260217	0.262000	0.24073	0.021000	0.16686	0.121000	0.20230	2.344000	0.44010	0.410000	0.25675	-0.261000	0.10672	GCG		0.667	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1		
MX1	4599	broad.mit.edu	37	21	42830648	42830648	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr21:42830648C>T	ENST00000398600.2	+	19	2977	c.1952C>T	c.(1951-1953)aCg>aTg	p.T651M	MX1_ENST00000455164.2_Missense_Mutation_p.T651M|MX1_ENST00000288383.6_Missense_Mutation_p.T628M|MX1_ENST00000398598.3_Missense_Mutation_p.T651M	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	651	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T651M(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCACGGCTGACGCAGGCTCGG	0.652																																					p.T651M												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C1952T	21						.						40.0	44.0	43.0					21																	42830648		2203	4300	6503	41752518	SO:0001583	missense	4599	exon19				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1952C>T	21.37:g.42830648C>T	ENSP00000381601:p.Thr651Met	Somatic		Capture	Illumina HiSeq	Phase_I	41752518	NM_001144925	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	C	3.997	-0.003315	0.07773	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	4.7	0.314	0.15847	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	1.342020	0.04560	N	0.391482	T	0.40272	0.1110	N	0.12746	0.255	0.09310	N	1	D	0.65815	0.995	P	0.54815	0.761	T	0.36286	-0.9754	10	0.11182	T	0.66	-8.4247	2.4041	0.04408	0.3412:0.3956:0.1665:0.0966	.	651	P20591	MX1_HUMAN	M	651;651;651;628	ENSP00000381601:T651M;ENSP00000381599:T651M;ENSP00000410523:T651M;ENSP00000288383:T628M	ENSP00000288383:T628M	T	+	2	0	MX1	41752518	0.000000	0.05858	0.123000	0.21794	0.010000	0.07245	0.061000	0.14366	0.236000	0.21180	0.655000	0.94253	ACG		0.652	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2		
TMPRSS3	64699	broad.mit.edu	37	21	43815477	43815477	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr21:43815477G>A	ENST00000291532.3	-	2	1005	c.50C>T	c.(49-51)tCg>tTg	p.S17L	TMPRSS3_ENST00000433957.2_Missense_Mutation_p.S17L|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.S17L|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.S17L|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.S101L	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	17					cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)	p.S17L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GCCAAAAAGCGATCGGAATGA	0.517																																					p.S17L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C50T	21						.						117.0	102.0	107.0					21																	43815477		2203	4300	6503	42688546	SO:0001583	missense	64699	exon2			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.50C>T	21.37:g.43815477G>A	ENSP00000291532:p.Ser17Leu	Somatic		Capture	Illumina HiSeq	Phase_I	42688546	NM_024022	D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303199	0.81136	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	D;D;D;D;D	0.88741	-2.36;-2.36;-2.39;-2.42;-2.37	5.39	5.39	0.77823	.	0.272984	0.26394	N	0.024628	D	0.87124	0.6099	N	0.24115	0.695	0.36746	D	0.882519	D;D;D	0.71674	0.998;0.991;0.985	P;P;B	0.54312	0.748;0.615;0.41	D	0.87736	0.2582	9	.	.	.	.	15.0127	0.71560	0.0:0.0:1.0:0.0	.	17;17;17	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	L	17;17;17;101;17	ENSP00000291532:S17L;ENSP00000411013:S17L;ENSP00000381442:S17L;ENSP00000369762:S101L;ENSP00000381434:S17L	.	S	-	2	0	TMPRSS3	42688546	0.983000	0.35010	0.389000	0.26208	0.945000	0.59286	2.747000	0.47475	2.691000	0.91804	0.655000	0.94253	TCG		0.517	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1		
TRAPPC10	7109	broad.mit.edu	37	21	45483468	45483468	+	Silent	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr21:45483468C>T	ENST00000291574.4	+	7	1015	c.840C>T	c.(838-840)aaC>aaT	p.N280N		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	280					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.N280N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGAGCTGGAACGGATTGATCC	0.502																																					p.N280N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C840T	21						.						102.0	103.0	102.0					21																	45483468		2203	4300	6503	44307896	SO:0001819	synonymous_variant	7109	exon7			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.840C>T	21.37:g.45483468C>T		Somatic		Capture	Illumina HiSeq	Phase_I	44307896	NM_003274	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	De_novo_Start_OutOfFrame	SNP	ENST00000291574.4	37	CCDS13704.1																																																																																				0.502	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274	
CYTH4	27128	broad.mit.edu	37	22	37708120	37708120	+	Silent	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr22:37708120C>T	ENST00000248901.6	+	12	1204	c.1017C>T	c.(1015-1017)acC>acT	p.T339T		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	339	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)	p.T339T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CCTGCAAGACCGATGGCGACG	0.617																																					p.T339T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1017T	22						.						122.0	106.0	112.0					22																	37708120		2203	4300	6503	36038066	SO:0001819	synonymous_variant	27128	exon12			AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.1017C>T	22.37:g.37708120C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36038066	NM_013385	Q5R3F9|Q9UGT6	Silent	SNP	ENST00000248901.6	37	CCDS13946.1	.	.	.	.	.	.	.	.	.	.	C	0.068	-1.208697	0.01568	.	.	ENSG00000100055	ENST00000446506	.	.	.	4.71	-9.43	0.00607	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2202	0.01922	0.2884:0.3204:0.158:0.2332	.	.	.	.	X	92	.	.	R	+	1	2	CYTH4	36038066	0.000000	0.05858	0.003000	0.11579	0.119000	0.20118	-6.122000	0.00080	-3.722000	0.00115	-3.297000	0.00046	CGA		0.617	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1		
MEI1	150365	broad.mit.edu	37	22	42148628	42148628	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr22:42148628T>G	ENST00000401548.3	+	16	1866	c.1826T>G	c.(1825-1827)cTg>cGg	p.L609R	MEI1_ENST00000540880.1_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.L349R	NM_152513.3	NP_689726.3			meiosis inhibitor 1									p.L609R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACCCTGGAGCTGAAGGCCAGG	0.512																																					p.L609R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1826G	22						.						71.0	69.0	69.0					22																	42148628		1966	4168	6134	40478574	SO:0001583	missense	150365	exon16			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1826T>G	22.37:g.42148628T>G	ENSP00000384115:p.Leu609Arg	Somatic		Capture	Illumina HiSeq	Phase_I	40478574	NM_152513		Missense_Mutation	SNP	ENST00000401548.3	37	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.183586	0.78677	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.06528	3.29;3.29	5.54	5.54	0.83059	.	0.083720	0.50627	D	0.000111	T	0.20170	0.0485	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.00160	-1.1973	10	0.87932	D	0	-3.7379	13.2154	0.59856	0.0:0.0:0.0:1.0	.	609	Q5TIA1	MEI1_HUMAN	R	609;349	ENSP00000384115:L609R;ENSP00000444225:L349R	ENSP00000384115:L609R	L	+	2	0	MEI1	40478574	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.359000	0.59449	2.110000	0.64415	0.455000	0.32223	CTG		0.512	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513	
WNT7B	7477	broad.mit.edu	37	22	46318841	46318841	+	Silent	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr22:46318841G>A	ENST00000339464.4	-	4	1319	c.945C>T	c.(943-945)acC>acT	p.T315T	WNT7B_ENST00000409496.3_Silent_p.T319T|WNT7B_ENST00000410089.1_Silent_p.T299T	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	315					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.T315T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TGTACTGGTGGGTGTTGTAGC	0.652																																					p.T315T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C945T	22						.						113.0	89.0	97.0					22																	46318841		2203	4300	6503	44697505	SO:0001819	synonymous_variant	7477	exon4			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.945C>T	22.37:g.46318841G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44697505	NM_058238	B8A596|Q96Q12	Silent	SNP	ENST00000339464.4	37	CCDS33667.1																																																																																				0.652	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	NM_058238	
SCN9A	6335	broad.mit.edu	37	2	167160796	167160796	+	Missense_Mutation	SNP	G	G	C	rs377543079		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr2:167160796G>C	ENST00000409435.1	-	5	639	c.640C>G	c.(640-642)Cga>Gga	p.R214G	SCN9A_ENST00000303354.6_Missense_Mutation_p.R215G|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Intron|SCN9A_ENST00000409672.1_Missense_Mutation_p.R214G			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	214					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.R214G(1)|p.R214*(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGAAAGTTCGAAGAGCTGAA	0.338																																					p.R214G												SCN9A,central_nervous_system,brain,Substitution - Nonsense,0 	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|central_nervous_system(1)	c.C640G	2						.						82.0	83.0	82.0					2																	167160796		2192	4295	6487	166869042	SO:0001583	missense	6335	exon6			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.640C>G	2.37:g.167160796G>C	ENSP00000386330:p.Arg214Gly	Somatic		Capture	Illumina HiSeq	Phase_I	166869042	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534222	0.85812	.	.	ENSG00000169432	ENST00000409672;ENST00000303354;ENST00000409435	D;D;D	0.98585	-5.01;-5.01;-5.01	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000014	D	0.99369	0.9778	H	0.98199	4.17	0.80722	D	1	D	0.52996	0.957	P	0.60541	0.876	D	0.98498	1.0613	10	0.87932	D	0	.	19.7604	0.96314	0.0:0.0:1.0:0.0	.	214	E7EUN6	.	G	214;215;214	ENSP00000386306:R214G;ENSP00000304748:R215G;ENSP00000386330:R214G	ENSP00000304748:R215G	R	-	1	2	SCN9A	166869042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.912000	0.63335	2.675000	0.91044	0.655000	0.94253	CGA		0.338	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
KCNS3	3790	broad.mit.edu	37	2	18112873	18112873	+	Missense_Mutation	SNP	G	G	A	rs537401566		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr2:18112873G>A	ENST00000403915.1	+	3	1049	c.598G>A	c.(598-600)Gtg>Atg	p.V200M	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.V200M	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	200					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.V200M(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCCTCCATCGTGGCCATGTG	0.542													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21544	0.0		0.0	False		,,,				2504	0.0				p.V200M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G598A	2						.						65.0	63.0	64.0					2																	18112873		2203	4300	6503	17976354	SO:0001583	missense	3790	exon3			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.598G>A	2.37:g.18112873G>A	ENSP00000385968:p.Val200Met	Somatic		Capture	Illumina HiSeq	Phase_I	17976354	NM_002252	D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251473	0.59212	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97888	-4.59;-4.59	6.07	6.07	0.98685	.	0.174723	0.50627	D	0.000116	D	0.98046	0.9356	M	0.67953	2.075	0.49130	D	0.999757	D	0.64830	0.994	P	0.53988	0.739	D	0.98306	1.0521	10	0.72032	D	0.01	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	200	Q9BQ31	KCNS3_HUMAN	M	200	ENSP00000385968:V200M;ENSP00000305824:V200M	ENSP00000305824:V200M	V	+	1	0	KCNS3	17976354	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	3.656000	0.54467	2.884000	0.98904	0.655000	0.94253	GTG		0.542	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252	
LRP2	4036	broad.mit.edu	37	2	170053530	170053530	+	Silent	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr2:170053530C>T	ENST00000263816.3	-	46	8874	c.8589G>A	c.(8587-8589)acG>acA	p.T2863T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2863	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.T2863T(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGCTGCTGCACGTGTGAGTGG	0.458																																					p.T2863T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G8589A	2						.						69.0	63.0	65.0					2																	170053530		2203	4300	6503	169761776	SO:0001819	synonymous_variant	4036	exon46				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8589G>A	2.37:g.170053530C>T		Somatic		Capture	Illumina HiSeq	Phase_I	169761776	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
BARD1	580	broad.mit.edu	37	2	215593695	215593695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr2:215593695C>T	ENST00000260947.4	-	11	2173	c.2039G>A	c.(2038-2040)tGg>tAg	p.W680*	BARD1_ENST00000449967.2_Missense_Mutation_p.G535R|BARD1_ENST00000432456.1_Nonsense_Mutation_p.W51*	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	680	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.W680*(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAAGGTTCCCCACAAATAGAA	0.423									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.W680X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2039A	2						.						98.0	85.0	90.0					2																	215593695		2203	4300	6503	215301940	SO:0001587	stop_gained	580	exon11	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.2039G>A	2.37:g.215593695C>T	ENSP00000260947:p.Trp680*	Somatic		Capture	Illumina HiSeq	Phase_I	215301940	NM_000465	F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Nonsense_Mutation	SNP	ENST00000260947.4	37	CCDS2397.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.014131|7.014131	0.98002|0.98002	.|.	.|.	ENSG00000138376|ENSG00000138376	ENST00000449967|ENST00000260947;ENST00000432456	T|.	0.63255|.	-0.03|.	5.91|5.91	3.87|3.87	0.44632|0.44632	.|.	.|0.297766	.|0.30584	.|N	.|0.009304	T|.	0.34658|.	0.0905|.	.|.	.|.	.|.	0.25763|0.25763	N|N	0.984922|0.984922	B|.	0.18741|.	0.03|.	B|.	0.15484|.	0.013|.	T|.	0.14008|.	-1.0488|.	8|.	0.56958|0.37606	D|T	0.05|0.19	-5.6211|-5.6211	6.4033|6.4033	0.21650|0.21650	0.3753:0.5317:0.0:0.093|0.3753:0.5317:0.0:0.093	.|.	535|.	E7EUI3|.	.|.	R|X	535|680;51	ENSP00000406752:G535R|.	ENSP00000406752:G535R|ENSP00000260947:W680X	G|W	-|-	1|2	0|0	BARD1|BARD1	215301940|215301940	0.949000|0.949000	0.32298|0.32298	0.967000|0.967000	0.41034|0.41034	0.782000|0.782000	0.44232|0.44232	2.256000|2.256000	0.43231|0.43231	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.423	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465	
RSAD2	91543	broad.mit.edu	37	2	7027288	7027288	+	Missense_Mutation	SNP	G	G	A	rs189344406		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr2:7027288G>A	ENST00000382040.3	+	3	867	c.731G>A	c.(730-732)cGc>cAc	p.R244H	RSAD2_ENST00000541728.1_Missense_Mutation_p.R137H	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.R244H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AACCCTGTCCGCTGGAAAGTA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		19711	0.0		0.001	False		,,,				2504	0.0				p.R244H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G731A	2						.						53.0	50.0	51.0					2																	7027288		2203	4300	6503	6944739	SO:0001583	missense	91543	exon3			AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.731G>A	2.37:g.7027288G>A	ENSP00000371471:p.Arg244His	Somatic		Capture	Illumina HiSeq	Phase_I	6944739	NM_080657		Missense_Mutation	SNP	ENST00000382040.3	37	CCDS1656.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	35	5.416858	0.96092	.	.	ENSG00000134321	ENST00000382040;ENST00000541728	D;D	0.92199	-2.99;-2.99	5.79	5.79	0.91817	Elongator protein 3/MiaB/NifB (1);	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96912	0.9668	9	.	.	.	-33.3655	20.0263	0.97523	0.0:0.0:1.0:0.0	.	244	Q8WXG1	RSAD2_HUMAN	H	244;137	ENSP00000371471:R244H;ENSP00000440859:R137H	.	R	+	2	0	RSAD2	6944739	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	9.265000	0.95647	2.735000	0.93741	0.655000	0.94253	CGC		0.378	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657	
SPTBN1	6711	broad.mit.edu	37	2	54858374	54858374	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr2:54858374C>G	ENST00000356805.4	+	16	3471	c.3190C>G	c.(3190-3192)Ctg>Gtg	p.L1064V	SPTBN1_ENST00000333896.5_Missense_Mutation_p.L1051V	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1064					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.L1064V(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGCCAGCAAGCTGCAGCAGTT	0.622																																					p.L1064V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3190G	2						.						66.0	76.0	73.0					2																	54858374		2203	4300	6503	54711878	SO:0001583	missense	6711	exon16				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3190C>G	2.37:g.54858374C>G	ENSP00000349259:p.Leu1064Val	Somatic		Capture	Illumina HiSeq	Phase_I	54711878	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660483	0.88154	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.40476	1.03;1.03	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	T	0.65238	0.2672	M	0.65677	2.01	0.80722	D	1	D;D	0.59357	0.981;0.985	D;D	0.72982	0.919;0.979	T	0.66236	-0.5974	10	0.66056	D	0.02	.	19.5376	0.95260	0.0:1.0:0.0:0.0	.	1051;1064	Q01082-3;Q01082	.;SPTB2_HUMAN	V	1064;1051	ENSP00000349259:L1064V;ENSP00000334156:L1051V	ENSP00000334156:L1051V	L	+	1	2	SPTBN1	54711878	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.620000	0.88729	0.655000	0.94253	CTG		0.622	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
EVA1A	84141	broad.mit.edu	37	2	75720477	75720477	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr2:75720477G>A	ENST00000233712.1	-	4	781	c.344C>T	c.(343-345)gCg>gTg	p.A115V	EVA1A_ENST00000410010.1_Missense_Mutation_p.A103V|EVA1A_ENST00000393913.3_Missense_Mutation_p.A115V|EVA1A_ENST00000410113.1_Missense_Mutation_p.A115V|EVA1A_ENST00000410071.1_Missense_Mutation_p.A115V|EVA1A_ENST00000490746.1_Intron	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	115					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.A115V(1)									CAGCTCCTCCGCAGAGGTGAA	0.637																																					p.A115V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C344T	2						.						45.0	46.0	46.0					2																	75720477		2203	4300	6503	75573985	SO:0001583	missense	84141	exon4			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.344C>T	2.37:g.75720477G>A	ENSP00000233712:p.Ala115Val	Somatic		Capture	Illumina HiSeq	Phase_I	75573985	NM_032181	D6W5J3|Q9HC41	Missense_Mutation	SNP	ENST00000233712.1	37	CCDS1959.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.151013	0.78001	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.05	4.18	0.49190	.	0.045134	0.85682	N	0.000000	T	0.59797	0.2220	M	0.79693	2.465	0.80722	D	1	D	0.55605	0.972	P	0.49192	0.602	T	0.61242	-0.7102	10	0.24483	T	0.36	8.3649	12.0396	0.53446	0.0865:0.0:0.9135:0.0	.	115	Q9H8M9	F176A_HUMAN	V	115;115;115;103;115;115	ENSP00000377490:A115V;ENSP00000233712:A115V;ENSP00000386435:A115V;ENSP00000386835:A103V;ENSP00000386930:A115V;ENSP00000398249:A115V	ENSP00000233712:A115V	A	-	2	0	FAM176A	75573985	1.000000	0.71417	0.129000	0.21949	0.992000	0.81027	7.911000	0.87458	1.446000	0.47643	0.655000	0.94253	GCG		0.637	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181	
FAHD2B	151313	broad.mit.edu	37	2	97749739	97749739	+	Silent	SNP	T	T	C	rs374707075		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr2:97749739T>C	ENST00000414820.1	-	8	1098	c.828A>G	c.(826-828)ctA>ctG	p.L276L	FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000440566.2_Silent_p.L276L|FAHD2B_ENST00000272610.3_Silent_p.L276L			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	276							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L276L(2)		kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						GGGTCCCAGTTAGGATGACAT	0.557																																					p.L276L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A828G	2						.						34.0	34.0	34.0					2																	97749739		2203	4299	6502	97113466	SO:0001819	synonymous_variant	151313	exon7				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.828A>G	2.37:g.97749739T>C		Somatic		Capture	Illumina HiSeq	Phase_I	97113466	NM_199336	D3DXH7|Q8NDK1	Silent	SNP	ENST00000414820.1	37	CCDS2030.1																																																																																				0.557	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1	NM_199336	
HDAC4	9759	broad.mit.edu	37	2	240085594	240085594	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr2:240085594C>G	ENST00000345617.3	-	6	1307	c.516G>C	c.(514-516)aaG>aaC	p.K172N	AC017028.1_ENST00000396489.1_5'Flank|HDAC4_ENST00000541256.1_Missense_Mutation_p.K141N	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	172	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.K172N(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GTAACTTCATCTTCACTTCTG	0.562																																					p.K172N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G516C	2						.						128.0	131.0	130.0					2																	240085594		2203	4300	6503	239750531	SO:0001583	missense	9759	exon6			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.516G>C	2.37:g.240085594C>G	ENSP00000264606:p.Lys172Asn	Somatic		Capture	Illumina HiSeq	Phase_I	239750531	NM_006037	Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612175	0.66672	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621;ENST00000454542	T;T;T	0.64438	4.29;4.29;-0.1	4.31	2.46	0.29980	.	0.000000	0.85682	D	0.000000	T	0.76758	0.4032	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.991;0.999;0.999;0.995;0.999;0.999	T	0.76135	-0.3070	9	.	.	.	.	7.2233	0.26002	0.0:0.6564:0.0:0.3436	.	167;55;141;141;140;172	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	N	172;55;141;55;141	ENSP00000264606:K172N;ENSP00000443057:K141N;ENSP00000405226:K141N	.	K	-	3	2	HDAC4	239750531	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.072000	0.30678	0.942000	0.37525	0.655000	0.94253	AAG		0.562	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037	
CAND2	23066	broad.mit.edu	37	3	12858462	12858462	+	Silent	SNP	C	C	T	rs377443431		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr3:12858462C>T	ENST00000456430.2	+	10	2072	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	CAND2_ENST00000295989.5_Silent_p.D584D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	677					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.D584D(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGCCCTGGACGCCCTGGCCC	0.662																																					p.D677D	GBM(43;676 868 1633 6395 37496)											.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C2031T	3						.	C	,	2,4054		0,2,2026	24.0	26.0	25.0		2031,1752	-9.9	0.2	3		25	0,8374		0,0,4187	no	coding-synonymous,coding-synonymous	CAND2	NM_001162499.1,NM_012298.2	,	0,2,6213	TT,TC,CC		0.0,0.0493,0.0161	,	677/1237,584/1120	12858462	2,12428	2028	4187	6215	12833462	SO:0001819	synonymous_variant	23066	exon10				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2031C>T	3.37:g.12858462C>T		Somatic		Capture	Illumina HiSeq	Phase_I	12833462	NM_001162499	B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	CCDS54554.1																																																																																				0.662	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617	
SPSB4	92369	broad.mit.edu	37	3	140866109	140866109	+	Nonstop_Mutation	SNP	T	T	C			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr3:140866109T>C	ENST00000310546.2	+	3	1564	c.820T>C	c.(820-822)Tga>Cga	p.*274R	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	0					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.*274R(1)		biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCAGTACCAGTGAGCCAAGCC	0.617																																					p.X274R												.	.	1	Nonstop extension(1)	large_intestine(1)	c.T820C	3						.						63.0	65.0	64.0					3																	140866109		2203	4300	6503	142348799	SO:0001578	stop_lost	92369	exon3				CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.820T>C	3.37:g.140866109T>C	ENSP00000311609:p.*274Argext*114	Somatic		Capture	Illumina HiSeq	Phase_I	142348799	NM_080862		Nonstop_Mutation	SNP	ENST00000310546.2	37	CCDS3115.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034469	0.75617	.	.	ENSG00000175093	ENST00000310546	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.858	0.63542	0.0:0.0:0.0:1.0	.	.	.	.	R	274	.	.	X	+	1	0	SPSB4	142348799	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.648000	0.83479	2.161000	0.67846	0.459000	0.35465	TGA		0.617	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862	
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.E542K	Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	PIK3CA,central_nervous_system,brain,Substitution - Missense,0 	.	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	c.G1624A	3						.						56.0	56.0	56.0					3																	178936082		1809	4069	5878	180418776	SO:0001583	missense	5290	exon10				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	Somatic		Capture	Illumina HiSeq	Phase_I	180418776	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
VPS8	23355	broad.mit.edu	37	3	184717528	184717528	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr3:184717528G>A	ENST00000437079.3	+	45	4052	c.3881G>A	c.(3880-3882)tGc>tAc	p.C1294Y	VPS8_ENST00000446204.2_Missense_Mutation_p.C1202Y|VPS8_ENST00000436792.2_Missense_Mutation_p.C1292Y|VPS8_ENST00000287546.4_Missense_Mutation_p.C1294Y	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1294							zinc ion binding (GO:0008270)	p.C1294Y(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AACAAAGAATGCACTGTGGAA	0.348																																					p.C1294Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3881A	3						.						88.0	81.0	83.0					3																	184717528		1897	4140	6037	186200222	SO:0001583	missense	23355	exon44			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3881G>A	3.37:g.184717528G>A	ENSP00000397879:p.Cys1294Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	186200222	NM_001009921	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062379	0.55432	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.22539	1.99;1.98;1.98;1.95	5.84	5.84	0.93424	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.207634	0.52532	D	0.000062	T	0.40196	0.1107	L	0.50333	1.59	0.46954	D	0.999265	D;D;D	0.67145	0.958;0.996;0.986	P;P;P	0.62184	0.635;0.899;0.742	T	0.01062	-1.1464	10	0.30854	T	0.27	-15.0593	20.1411	0.98058	0.0:0.0:1.0:0.0	.	1294;1202;1292	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	Y	1294;1294;1292;1202	ENSP00000287546:C1294Y;ENSP00000397879:C1294Y;ENSP00000404704:C1292Y;ENSP00000405483:C1202Y	ENSP00000287546:C1294Y	C	+	2	0	VPS8	186200222	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	3.889000	0.56212	2.760000	0.94817	0.609000	0.83330	TGC		0.348	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	
BSN	8927	broad.mit.edu	37	3	49700452	49700452	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr3:49700452G>A	ENST00000296452.4	+	7	10975	c.10861G>A	c.(10861-10863)Gat>Aat	p.D3621N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3621					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.D3621N(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCATGACTACGATGAACCCCC	0.672																																					p.D3621N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10861A	3						.						42.0	40.0	40.0					3																	49700452		2203	4300	6503	49675456	SO:0001583	missense	8927	exon7			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10861G>A	3.37:g.49700452G>A	ENSP00000296452:p.Asp3621Asn	Somatic		Capture	Illumina HiSeq	Phase_I	49675456	NM_003458	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083470	0.36758	.	.	ENSG00000164061	ENST00000296452	T	0.25085	1.82	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.47173	0.1431	L	0.58101	1.795	0.58432	D	0.999999	D	0.89917	1.0	D	0.71656	0.974	T	0.22871	-1.0204	10	0.29301	T	0.29	-11.6831	18.323	0.90244	0.0:0.0:1.0:0.0	.	3621	Q9UPA5	BSN_HUMAN	N	3621	ENSP00000296452:D3621N	ENSP00000296452:D3621N	D	+	1	0	BSN	49675456	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.846000	0.86887	2.422000	0.82143	0.591000	0.81541	GAT		0.672	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
PCYT1A	5130	broad.mit.edu	37	3	195965746	195965746	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr3:195965746C>A	ENST00000292823.2	-	10	1089	c.917G>T	c.(916-918)gGg>gTg	p.G306V	PCYT1A_ENST00000419333.1_Missense_Mutation_p.G306V|PCYT1A_ENST00000431016.1_Missense_Mutation_p.G306V	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	306					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)	p.G306V(1)		cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CCGGCCCTTCCCCTCTTTCAG	0.562																																					p.G306V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G917T	3						.						17.0	18.0	18.0					3																	195965746		2200	4300	6500	197450143	SO:0001583	missense	5130	exon10			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.917G>T	3.37:g.195965746C>A	ENSP00000292823:p.Gly306Val	Somatic		Capture	Illumina HiSeq	Phase_I	197450143	NM_005017	A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135860	0.77662	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	L	0.55481	1.735	0.80722	D	1	D	0.71674	0.998	D	0.64687	0.928	T	0.64300	-0.6440	9	0.14656	T	0.56	-21.4091	19.8676	0.96824	0.0:1.0:0.0:0.0	.	306	P49585	PCY1A_HUMAN	V	306;306;267;306	.	ENSP00000292823:G306V	G	-	2	0	PCYT1A	197450143	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GGG		0.562	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017	
USP53	54532	broad.mit.edu	37	4	120192801	120192801	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr4:120192801A>G	ENST00000274030.6	+	16	2965	c.1786A>G	c.(1786-1788)Att>Gtt	p.I596V	USP53_ENST00000450251.1_Missense_Mutation_p.I596V	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53									p.I595V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGTTGATAGTATTTTTAGTGA	0.383																																					p.I596V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1786G	4						.						59.0	57.0	58.0					4																	120192801		1836	4083	5919	120412249	SO:0001583	missense	54532	exon15			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1786A>G	4.37:g.120192801A>G	ENSP00000274030:p.Ile596Val	Somatic		Capture	Illumina HiSeq	Phase_I	120412249	NM_019050		Missense_Mutation	SNP	ENST00000274030.6	37	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	A	9.200	1.028218	0.19512	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.14391	2.51;2.51	5.58	-3.63	0.04529	.	0.635794	0.15194	N	0.275413	T	0.06600	0.0169	N	0.11845	0.185	0.23665	N	0.997166	B	0.06786	0.001	B	0.06405	0.002	T	0.35475	-0.9787	10	0.23891	T	0.37	-7.694	12.8771	0.57996	0.4402:0.0:0.5598:0.0	.	596	Q70EK8	UBP53_HUMAN	V	596	ENSP00000274030:I596V;ENSP00000409906:I596V	ENSP00000274030:I596V	I	+	1	0	USP53	120412249	0.332000	0.24722	0.905000	0.35620	0.986000	0.74619	0.764000	0.26532	-0.397000	0.07691	-0.371000	0.07208	ATT		0.383	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597	
ZNF827	152485	broad.mit.edu	37	4	146807246	146807246	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr4:146807246C>T	ENST00000508784.1	-	4	1558	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	ZNF827_ENST00000513320.1_Missense_Mutation_p.R94H|ZNF827_ENST00000379448.4_Missense_Mutation_p.R444H			Q17R98	ZN827_HUMAN	zinc finger protein 827	444					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.R444H(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GCTGAAGTGGCGTGAGGAAGT	0.542																																					p.R444H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1331A	4						.						102.0	90.0	94.0					4																	146807246		2203	4300	6503	147026696	SO:0001583	missense	152485	exon4			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1331G>A	4.37:g.146807246C>T	ENSP00000421863:p.Arg444His	Somatic		Capture	Illumina HiSeq	Phase_I	147026696	NM_178835	B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37		.	.	.	.	.	.	.	.	.	.	C	30	5.055206	0.93793	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.29142	1.58;1.58;1.58	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	N	0.25647	0.755	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.993	T	0.37572	-0.9700	10	0.46703	T	0.11	-19.3186	19.1949	0.93684	0.0:1.0:0.0:0.0	.	94;444;444	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	H	444;94;444;443;94	ENSP00000421863:R444H;ENSP00000423130:R94H;ENSP00000368761:R444H	ENSP00000281318:R443H	R	-	2	0	ZNF827	147026696	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.487000	0.81328	2.540000	0.85666	0.561000	0.74099	CGC		0.542	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835	
DCHS2	54798	broad.mit.edu	37	4	155161931	155161931	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr4:155161931C>A	ENST00000357232.4	-	23	5751	c.5752G>T	c.(5752-5754)Gtg>Ttg	p.V1918L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1918	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1918L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTCAAATCCACATCATGAACT	0.383																																					p.V1918L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5752T	4						.						94.0	84.0	87.0					4																	155161931		2203	4300	6503	155381381	SO:0001583	missense	54798	exon23			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5752G>T	4.37:g.155161931C>A	ENSP00000349768:p.Val1918Leu	Somatic		Capture	Illumina HiSeq	Phase_I	155381381	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773887	0.49786	.	.	ENSG00000197410	ENST00000357232	T	0.50548	0.74	5.96	2.91	0.33838	Cadherin (4);Cadherin-like (1);	0.749136	0.11837	N	0.524627	T	0.30448	0.0765	N	0.11364	0.135	0.80722	D	1	P	0.40578	0.722	B	0.40702	0.338	T	0.02567	-1.1140	10	0.21014	T	0.42	.	12.4291	0.55563	0.0:0.7839:0.0:0.2161	.	1918	Q6V1P9	PCD23_HUMAN	L	1918	ENSP00000349768:V1918L	ENSP00000349768:V1918L	V	-	1	0	DCHS2	155381381	0.996000	0.38824	0.993000	0.49108	0.390000	0.30446	2.457000	0.45005	0.869000	0.35703	-0.140000	0.14226	GTG		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
APC	324	broad.mit.edu	37	5	112164596	112164596	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr5:112164596T>C	ENST00000457016.1	+	14	2050	c.1670T>C	c.(1669-1671)gTa>gCa	p.V557A	APC_ENST00000508376.2_Missense_Mutation_p.V557A|CTC-554D6.1_ENST00000520401.1_Nonstop_Mutation_p.*53Q|APC_ENST00000257430.4_Missense_Mutation_p.V557A			P25054	APC_HUMAN	adenomatous polyposis coli	557	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.V557A(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CGAGCAGATGTAAATAGTAAA	0.308		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.V539A	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)	c.T1616C	5						.						124.0	134.0	130.0					5																	112164596		2202	4300	6502	112192495	SO:0001583	missense	324	exon12	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1670T>C	5.37:g.112164596T>C	ENSP00000413133:p.Val557Ala	Somatic		Capture	Illumina HiSeq	Phase_I	112192495	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715741	0.68844	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	N	0.11927	0.2	0.80722	D	1	B;B	0.29232	0.054;0.238	B;B	0.26094	0.027;0.066	T	0.51100	-0.8748	10	0.87932	D	0	-17.1651	15.8221	0.78662	0.0:0.0:0.0:1.0	.	559;557	Q4LE70;P25054	.;APC_HUMAN	A	557;539;557;557;557	ENSP00000413133:V557A;ENSP00000423224:V539A;ENSP00000257430:V557A;ENSP00000427089:V557A;ENSP00000423828:V557A	ENSP00000257430:V557A	V	+	2	0	APC	112192495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.928000	0.70088	2.139000	0.66308	0.533000	0.62120	GTA		0.308	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
SMAD5	4090	broad.mit.edu	37	5	135510285	135510285	+	Silent	SNP	C	C	T	rs371268695		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr5:135510285C>T	ENST00000545279.1	+	7	1578	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L	SMAD5_ENST00000545620.1_Silent_p.L406L|SMAD5_ENST00000514641.2_3'UTR	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	406	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)	p.L406L(1)		central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATATGAGCTCACCAAAATGT	0.393																																					p.L406L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1218T	5						.	C	,,	0,3784		0,0,1892	99.0	94.0	95.0		1218,1218,1218	5.3	1.0	5		95	1,8247		0,1,4123	no	coding-synonymous,coding-synonymous,coding-synonymous	SMAD5	NM_001001419.1,NM_001001420.1,NM_005903.5	,,	0,1,6015	TT,TC,CC		0.0121,0.0,0.0083	,,	406/466,406/466,406/466	135510285	1,12031	1892	4124	6016	135538184	SO:0001819	synonymous_variant	4090	exon8			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.1218C>T	5.37:g.135510285C>T		Somatic		Capture	Illumina HiSeq	Phase_I	135538184	NM_001001419	O14688|Q15798|Q9UQA1	Silent	SNP	ENST00000545279.1	37																																																																																					0.393	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005903	
PCDHA4	56144	broad.mit.edu	37	5	140188012	140188012	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr5:140188012G>T	ENST00000530339.1	+	1	1240	c.1240G>T	c.(1240-1242)Gac>Tac	p.D414Y	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D414Y|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.D414Y	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	414	Cadherin 4. {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)	p.D414Y(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGCCCTGGACCGCGAGAG	0.617																																					p.D414Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1240T	5						.						160.0	149.0	153.0					5																	140188012		2203	4300	6503	140168196	SO:0001583	missense	56144	exon1			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1240G>T	5.37:g.140188012G>T	ENSP00000435300:p.Asp414Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	140168196	NM_031500	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	19.08	3.757491	0.69648	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.65549	-0.16;-0.16;-0.16	4.5	4.5	0.54988	Cadherin (4);Cadherin-like (1);	0.000000	0.42682	U	0.000672	D	0.88969	0.6582	H	0.99697	4.71	0.50813	D	0.99989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;0.999	D	0.94406	0.7627	10	0.87932	D	0	.	17.6231	0.88087	0.0:0.0:1.0:0.0	.	414;414;414	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	Y	414	ENSP00000423470:D414Y;ENSP00000349344:D414Y;ENSP00000435300:D414Y	ENSP00000349344:D414Y	D	+	1	0	PCDHA4	140168196	1.000000	0.71417	0.988000	0.46212	0.642000	0.38348	7.759000	0.85235	2.248000	0.74166	0.580000	0.79431	GAC		0.617	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PCDHB7	56129	broad.mit.edu	37	5	140554090	140554090	+	Silent	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr5:140554090G>A	ENST00000231137.3	+	1	1848	c.1674G>A	c.(1672-1674)tcG>tcA	p.S558S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S558S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGACAACTCGCCCTTCGTGC	0.726																																					p.S558S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1674A	5						.						27.0	32.0	30.0					5																	140554090		2183	4279	6462	140534274	SO:0001819	synonymous_variant	56129	exon1			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1674G>A	5.37:g.140554090G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140534274	NM_018940	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	g	8.706	0.910784	0.17833	.	.	ENSG00000113212	ENST00000543636	.	.	.	3.88	2.89	0.33648	.	.	.	.	.	T	0.66268	0.2772	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70506	-0.4853	5	0.87932	D	0	.	10.9346	0.47239	0.0:0.0:0.73:0.27	.	.	.	.	H	341	.	ENSP00000440828:R341H	R	+	2	0	PCDHB7	140534274	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-1.578000	0.02125	2.099000	0.63709	0.449000	0.29647	CGC		0.726	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
MCTP1	79772	broad.mit.edu	37	5	94044283	94044283	+	Silent	SNP	A	A	G			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr5:94044283A>G	ENST00000515393.1	-	22	2861	c.2862T>C	c.(2860-2862)agT>agC	p.S954S	ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000312216.8_Silent_p.S733S|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000429576.2_Silent_p.S647S|MCTP1_ENST00000505078.1_Silent_p.S470S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	954					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.S954S(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTGCATATGGACTCCGAAGCT	0.328																																					p.S733S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2199C	5						.						132.0	124.0	127.0					5																	94044283		2203	4300	6503	94070039	SO:0001819	synonymous_variant	79772	exon22				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2862T>C	5.37:g.94044283A>G		Somatic		Capture	Illumina HiSeq	Phase_I	94070039	NM_001002796	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	CCDS34203.1																																																																																				0.328	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
APC	324	broad.mit.edu	37	5	112175552	112175552	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr5:112175552delA	ENST00000457016.1	+	16	4641	c.4261delA	c.(4261-4263)agtfs	p.S1421fs	APC_ENST00000508376.2_Frame_Shift_Del_p.S1421fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.S1421fs			P25054	APC_HUMAN	adenomatous polyposis coli	1421	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S1421fs*52(2)|p.D1422fs*2(2)|p.P1420fs*2(1)|p.Y1376fs*41(1)|p.?(1)|p.S1411fs*41(1)|p.K1192fs*3(1)|p.S1421fs*1(1)|p.S1421fs*2(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATAAGCCCCAGTGATCTTCC	0.473		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.S1403fs	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,upper_aerodigestive_tract,sinonasal_and_nasal_cavity,Substitution - Missense,+2 	.	11	Deletion - Frameshift(10)|Unknown(1)	large_intestine(8)|soft_tissue(2)|skin(1)	c.4207delA	5						.						106.0	98.0	101.0					5																	112175552		2202	4300	6502	112203451	SO:0001589	frameshift_variant	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4261delA	5.37:g.112175552delA	ENSP00000413133:p.Ser1421fs	Somatic		Capture	Illumina HiSeq	Phase_I	112203451	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.473	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PCDHGC4	56098	broad.mit.edu	37	5	140864908	140864908	+	Silent	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr5:140864908G>A	ENST00000306593.1	+	1	168	c.168G>A	c.(166-168)acG>acA	p.T56T	PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T56T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGATACGGACAGTCTGT	0.557																																					p.T56T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G168A	5						.						77.0	76.0	76.0					5																	140864908		2203	4300	6503	140845092	SO:0001819	synonymous_variant	56098	exon1			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.168G>A	5.37:g.140864908G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140845092	NM_032406	Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	CCDS4262.1																																																																																				0.557	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928	
SYCP2L	221711	broad.mit.edu	37	6	10961573	10961573	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr6:10961573T>C	ENST00000283141.6	+	27	2587	c.2291T>C	c.(2290-2292)cTt>cCt	p.L764P		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	764						nucleus (GO:0005634)		p.L764P(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AATTTGGTTCTTCAAGAGTTG	0.388																																					p.L764P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2291C	6						.						123.0	111.0	115.0					6																	10961573		1831	4093	5924	11069559	SO:0001583	missense	221711	exon27			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2291T>C	6.37:g.10961573T>C	ENSP00000283141:p.Leu764Pro	Somatic		Capture	Illumina HiSeq	Phase_I	11069559	NM_001040274	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108703	0.37242	.	.	ENSG00000153157	ENST00000283141	T	0.25250	1.81	5.49	4.3	0.51218	.	0.636639	0.14608	N	0.309181	T	0.33177	0.0854	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.09552	-1.0669	10	0.72032	D	0.01	-10.1629	9.3795	0.38304	0.0:0.0:0.1801:0.8199	.	764	Q5T4T6	SYC2L_HUMAN	P	764	ENSP00000283141:L764P	ENSP00000283141:L764P	L	+	2	0	SYCP2L	11069559	1.000000	0.71417	0.767000	0.31495	0.156000	0.22039	2.213000	0.42844	0.874000	0.35823	0.533000	0.62120	CTT		0.388	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299	
HIST1H2BA	255626	broad.mit.edu	37	6	25727291	25727291	+	Missense_Mutation	SNP	C	C	T	rs143128181		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr6:25727291C>T	ENST00000274764.2	+	1	155	c.155C>T	c.(154-156)cCg>cTg	p.P52L	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	52					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P52L(1)		breast(1)|kidney(1)	2						CAGGTCCATCCGGACACTGGC	0.458																																					p.P52L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C155T	6						.						367.0	289.0	315.0					6																	25727291		2203	4300	6503	25835270	SO:0001583	missense	255626	exon1			AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"""Histones / Replication-dependent"""	18730	protein-coding gene	gene with protein product		609904	"""H2B histone family, member U, (testis-specific)"", ""histone 1, H2ba"""			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.155C>T	6.37:g.25727291C>T	ENSP00000274764:p.Pro52Leu	Somatic		Capture	Illumina HiSeq	Phase_I	25835270	NM_170610	B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Missense_Mutation	SNP	ENST00000274764.2	37	CCDS4563.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579974	0.46006	.	.	ENSG00000146047	ENST00000274764	T	0.38560	1.13	3.16	3.16	0.36331	Histone-fold (2);Histone core (1);	0.000000	0.64402	D	0.000003	T	0.64527	0.2606	H	0.95470	3.675	0.80722	D	1	D	0.76494	0.999	P	0.62089	0.898	T	0.74937	-0.3494	10	0.49607	T	0.09	.	14.1009	0.65054	0.0:1.0:0.0:0.0	.	52	Q96A08	H2B1A_HUMAN	L	52	ENSP00000274764:P52L	ENSP00000274764:P52L	P	+	2	0	HIST1H2BA	25835270	0.997000	0.39634	0.011000	0.14972	0.008000	0.06430	4.734000	0.62043	2.071000	0.62044	0.644000	0.83932	CCG		0.458	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610	
COL19A1	1310	broad.mit.edu	37	6	70840103	70840103	+	Silent	SNP	G	G	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr6:70840103G>T	ENST00000322773.4	+	18	1473	c.1371G>T	c.(1369-1371)ctG>ctT	p.L457L	COL19A1_ENST00000393344.1_Silent_p.L79L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	457	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.L457L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTGGAGGCCTGAAAGGAGACA	0.393																																					p.L457L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1371T	6						.						75.0	79.0	78.0					6																	70840103		2203	4300	6503	70896824	SO:0001819	synonymous_variant	1310	exon18				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1371G>T	6.37:g.70840103G>T		Somatic		Capture	Illumina HiSeq	Phase_I	70896824	NM_001858	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	CCDS4970.1																																																																																				0.393	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		
RIMS1	22999	broad.mit.edu	37	6	72947611	72947611	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr6:72947611G>T	ENST00000521978.1	+	9	1943	c.1943G>T	c.(1942-1944)gGa>gTa	p.G648V	RIMS1_ENST00000520567.1_Missense_Mutation_p.G648V|RIMS1_ENST00000522291.1_Missense_Mutation_p.G648V|RIMS1_ENST00000491071.2_Missense_Mutation_p.G648V|RIMS1_ENST00000518273.1_Missense_Mutation_p.G648V|RIMS1_ENST00000348717.5_Missense_Mutation_p.G648V|RIMS1_ENST00000517960.1_Missense_Mutation_p.G648V|RIMS1_ENST00000264839.7_Missense_Mutation_p.G648V|RIMS1_ENST00000517827.1_Missense_Mutation_p.G107V|RIMS1_ENST00000401910.3_Missense_Mutation_p.G122V|RIMS1_ENST00000425662.2_Missense_Mutation_p.G41V|RIMS1_ENST00000523963.1_Missense_Mutation_p.G122V	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	648	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.G648V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GATGTAGTTGGACACCTAAGA	0.368																																					p.G41V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G122T	6						.						87.0	82.0	83.0					6																	72947611		1846	4088	5934	73004332	SO:0001583	missense	22999	exon4			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1943G>T	6.37:g.72947611G>T	ENSP00000428417:p.Gly648Val	Somatic		Capture	Illumina HiSeq	Phase_I	73004332	NM_001168409	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.444685|4.444685	0.83993|0.83993	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.61392|.	0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11|.	4.94|4.94	4.94|4.94	0.65067|0.65067	PDZ/DHR/GLGF (4);|.	0.000000|.	0.64402|.	D|.	0.000009|.	D|D	0.85944|0.85944	0.5815|0.5815	H|H	0.95470|0.95470	3.675|3.675	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D|D	0.90507|0.90507	0.4478|0.4478	10|5	0.87932|.	D|.	0|.	-16.4099|-16.4099	18.1582|18.1582	0.89700|0.89700	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	107;122;648;107;122;648;648|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	V|C	648;648;648;648;648;648;648;648;648;648;648;648;122;122;41;41;107|221	ENSP00000430101:G648V;ENSP00000275037:G648V;ENSP00000264839:G648V;ENSP00000429959:G648V;ENSP00000430408:G648V;ENSP00000430502:G648V;ENSP00000430932:G648V;ENSP00000428417:G648V;ENSP00000385649:G122V;ENSP00000428328:G122V;ENSP00000411235:G41V;ENSP00000389503:G41V;ENSP00000428367:G107V|.	ENSP00000264839:G648V|.	G|W	+|+	2|3	0|0	RIMS1|RIMS1	73004332|73004332	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	9.864000|9.864000	0.99589|0.99589	2.294000|2.294000	0.77228|0.77228	0.491000|0.491000	0.48974|0.48974	GGA|TGG		0.368	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
BCKDHB	594	broad.mit.edu	37	6	80982871	80982871	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr6:80982871G>A	ENST00000320393.6	+	9	1018	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Missense_Mutation_p.R324Q	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	324					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)	p.R324Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		AAAACAGGGCGACTGCTAATC	0.358																																					p.R324Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G971A	6						.						83.0	82.0	82.0					6																	80982871		2203	4299	6502	81039590	SO:0001583	missense	594	exon9			M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.971G>A	6.37:g.80982871G>A	ENSP00000318351:p.Arg324Gln	Somatic		Capture	Illumina HiSeq	Phase_I	81039590	NM_183050	Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899755	0.91962	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	D;D	0.92595	-3.07;-3.07	5.72	5.72	0.89469	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	H	0.99815	4.805	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.99120	1.0849	10	0.87932	D	0	-9.8047	15.3938	0.74774	0.0:0.0:1.0:0.0	.	324	P21953	ODBB_HUMAN	Q	324;324;254	ENSP00000318351:R324Q;ENSP00000348880:R324Q	ENSP00000318351:R324Q	R	+	2	0	BCKDHB	81039590	1.000000	0.71417	0.995000	0.50966	0.732000	0.41865	7.835000	0.86780	2.716000	0.92895	0.650000	0.86243	CGA		0.358	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056	
GRM1	2911	broad.mit.edu	37	6	146755288	146755288	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr6:146755288C>T	ENST00000282753.1	+	8	3176	c.2941C>T	c.(2941-2943)Cgc>Tgc	p.R981C	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.R981C|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	981					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R981C(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGTGCACAGGCGCGTGCCAAG	0.652																																					p.R981C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2941T	6						.						73.0	78.0	76.0					6																	146755288		2203	4300	6503	146796981	SO:0001583	missense	2911	exon9			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2941C>T	6.37:g.146755288C>T	ENSP00000282753:p.Arg981Cys	Somatic		Capture	Illumina HiSeq	Phase_I	146796981	NM_000838	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242326	0.79912	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.89123	-2.47;-2.47	5.1	5.1	0.69264	.	0.180842	0.49916	D	0.000133	T	0.80341	0.4605	N	0.24115	0.695	0.80722	D	1	D	0.63880	0.993	B	0.44315	0.446	D	0.83599	0.0127	10	0.52906	T	0.07	.	18.5007	0.90879	0.0:1.0:0.0:0.0	.	981	Q13255	GRM1_HUMAN	C	981	ENSP00000354896:R981C;ENSP00000282753:R981C	ENSP00000282753:R981C	R	+	1	0	GRM1	146796981	1.000000	0.71417	0.943000	0.38184	0.735000	0.41995	5.103000	0.64578	2.363000	0.80096	0.462000	0.41574	CGC		0.652	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
CREB5	9586	broad.mit.edu	37	7	28610004	28610004	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr7:28610004G>A	ENST00000357727.2	+	5	703	c.313G>A	c.(313-315)Gtt>Att	p.V105I	CREB5_ENST00000396300.2_Missense_Mutation_p.V98I|CREB5_ENST00000409603.1_Missense_Mutation_p.V72I|CREB5_ENST00000396299.2_Missense_Mutation_p.V72I	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	105					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V105I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GCATAATGCAGTTGGTGGGGC	0.537																																					p.V98I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G292A	7						.						84.0	80.0	81.0					7																	28610004		2203	4300	6503	28576529	SO:0001583	missense	9586	exon5			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.313G>A	7.37:g.28610004G>A	ENSP00000350359:p.Val105Ile	Somatic		Capture	Illumina HiSeq	Phase_I	28576529	NM_004904	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272315	0.80580	.	.	ENSG00000146592	ENST00000396299;ENST00000424599;ENST00000357727;ENST00000396300;ENST00000409603	T;T;T;T	0.64991	-0.13;-0.12;-0.11;-0.13	5.46	5.46	0.80206	.	0.315042	0.31312	N	0.007864	T	0.45397	0.1340	N	0.08118	0	0.80722	D	1	B	0.16166	0.016	B	0.12156	0.007	T	0.30446	-0.9978	10	0.29301	T	0.29	-7.375	19.3132	0.94199	0.0:0.0:1.0:0.0	.	105	Q02930	CREB5_HUMAN	I	72;98;105;98;72	ENSP00000379593:V72I;ENSP00000350359:V105I;ENSP00000379594:V98I;ENSP00000387197:V72I	ENSP00000350359:V105I	V	+	1	0	CREB5	28576529	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	6.778000	0.75043	2.587000	0.87381	0.655000	0.94253	GTT		0.537	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904	
CLN8	2055	broad.mit.edu	37	8	1728532	1728532	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr8:1728532C>G	ENST00000331222.4	+	3	907	c.660C>G	c.(658-660)gaC>gaG	p.D220E	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	220	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.D220E(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GGCACTGGGACGGCCTGGTCA	0.493																																					p.D220E	Pancreas(155;338 1942 6138 10888 50612)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C660G	8						.						242.0	149.0	181.0					8																	1728532		2203	4300	6503	1715939	SO:0001583	missense	2055	exon3			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.660C>G	8.37:g.1728532C>G	ENSP00000328182:p.Asp220Glu	Somatic		Capture	Illumina HiSeq	Phase_I	1715939	NM_018941	Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	CCDS5956.1	.	.	.	.	.	.	.	.	.	.	C	9.874	1.199663	0.22121	.	.	ENSG00000182372	ENST00000331222	D	0.84873	-1.91	5.17	-4.03	0.04021	TRAM/LAG1/CLN8 homology domain (3);	0.518526	0.17111	U	0.186613	T	0.71888	0.3393	L	0.33485	1.01	0.19300	N	0.999977	B	0.16603	0.018	B	0.15870	0.014	T	0.54827	-0.8235	10	0.28530	T	0.3	-12.6531	9.0452	0.36343	0.106:0.2672:0.0:0.6268	.	220	Q9UBY8	CLN8_HUMAN	E	220	ENSP00000328182:D220E	ENSP00000328182:D220E	D	+	3	2	CLN8	1715939	0.000000	0.05858	0.001000	0.08648	0.868000	0.49771	-1.042000	0.03539	-1.025000	0.03334	-0.142000	0.14014	GAC		0.493	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941	
DUSP26	78986	broad.mit.edu	37	8	33449666	33449666	+	Silent	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr8:33449666G>A	ENST00000256261.4	-	4	1018	c.501C>T	c.(499-501)ctC>ctT	p.L167L	DUSP26_ENST00000523956.1_Silent_p.L167L	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	167	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)	p.L167L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GGTACAGCATGAGGTAGGCCA	0.597																																					p.L167L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C501T	8						.						106.0	83.0	91.0					8																	33449666		2203	4300	6503	33569208	SO:0001819	synonymous_variant	78986	exon4			AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.501C>T	8.37:g.33449666G>A		Somatic		Capture	Illumina HiSeq	Phase_I	33569208	NM_024025	D3DSV8|Q9BTW0	Silent	SNP	ENST00000256261.4	37	CCDS6092.1																																																																																				0.597	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1	NM_024025	
ADAM18	8749	broad.mit.edu	37	8	39525647	39525647	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr8:39525647G>T	ENST00000265707.5	+	14	1502	c.1457G>T	c.(1456-1458)gGa>gTa	p.G486V	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G462V	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	486	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G486V(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGCAAGTTGGGAACTGCCTAT	0.383																																					p.G486V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1457T	8						.						241.0	212.0	222.0					8																	39525647		2203	4300	6503	39644804	SO:0001583	missense	8749	exon14			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1457G>T	8.37:g.39525647G>T	ENSP00000265707:p.Gly486Val	Somatic		Capture	Illumina HiSeq	Phase_I	39644804	NM_014237	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148556	0.57151	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.22743	1.94;1.94	5.5	3.58	0.41010	ADAM, cysteine-rich (2);	0.147958	0.31784	N	0.007077	T	0.39835	0.1093	M	0.76002	2.32	0.39702	D	0.971191	D;D	0.63046	0.99;0.992	D;D	0.72982	0.965;0.979	T	0.26395	-1.0104	10	0.39692	T	0.17	.	6.9735	0.24662	0.2041:0.0:0.7959:0.0	.	462;486	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	V	486;462;418	ENSP00000265707:G486V;ENSP00000369195:G462V	ENSP00000265707:G486V	G	+	2	0	ADAM18	39644804	0.922000	0.31269	0.961000	0.40146	0.966000	0.64601	3.482000	0.53186	1.566000	0.49654	-0.300000	0.09419	GGA		0.383	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
NDUFA8	4702	broad.mit.edu	37	9	124910448	124910448	+	Silent	SNP	G	G	A	rs180920547	byFrequency	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr9:124910448G>A	ENST00000373768.3	-	3	465	c.324C>T	c.(322-324)gaC>gaT	p.D108D	NDUFA8_ENST00000537618.1_Silent_p.D108D	NM_014222.2	NP_055037.1	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	108	CHCH 2.				cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)	p.D108D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						GCACACACTCGTCAAACTTTG	0.493													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		15785	0.0		0.0	False		,,,				2504	0.0				p.D108D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C324T	9						.						131.0	121.0	124.0					9																	124910448		2203	4300	6503	123950269	SO:0001819	synonymous_variant	4702	exon3			AF044953	CCDS6835.1	9q33.2	2011-07-04	2002-08-29		ENSG00000119421	ENSG00000119421		"""Mitochondrial respiratory chain complex / Complex I"""	7692	protein-coding gene	gene with protein product	"""complex I PGIV subunit"""	603359	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8 (19kD, PGIV)"""			9763677	Standard	NM_014222		Approved	PGIV, MGC793	uc004blv.3	P51970	OTTHUMG00000020598	ENST00000373768.3:c.324C>T	9.37:g.124910448G>A		Somatic		Capture	Illumina HiSeq	Phase_I	123950269	NM_014222	B1AM93|Q9Y6N0	Silent	SNP	ENST00000373768.3	37	CCDS6835.1																																																																																				0.493	NDUFA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053909.1	NM_014222	
FIBCD1	84929	broad.mit.edu	37	9	133779697	133779697	+	Silent	SNP	C	C	T			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chr9:133779697C>T	ENST00000372338.4	-	7	1382	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Silent_p.L222L|FIBCD1_ENST00000448616.1_Silent_p.L380L	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	380	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)	p.L380L(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGCTGTGCTTCAGGAGGGAGT	0.627																																					p.L380L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1140A	9						.						117.0	101.0	106.0					9																	133779697		2203	4300	6503	132769518	SO:0001819	synonymous_variant	84929	exon8			AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1140G>A	9.37:g.133779697C>T		Somatic		Capture	Illumina HiSeq	Phase_I	132769518	NM_001145106	A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	CCDS6937.1																																																																																				0.627	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843	
MID1	4281	broad.mit.edu	37	X	10534981	10534981	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chrX:10534981G>A	ENST00000317552.4	-	2	1007	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	MID1_ENST00000380779.1_Missense_Mutation_p.R203W|MID1_ENST00000380780.1_Missense_Mutation_p.R203W|MID1_ENST00000453318.2_Missense_Mutation_p.R203W|MID1_ENST00000380785.1_Missense_Mutation_p.R203W|MID1_ENST00000380787.1_Missense_Mutation_p.R203W|MID1_ENST00000380782.2_Missense_Mutation_p.R203W	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	203					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R203W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCGCGGTGCCGCCCAACCAGT	0.512																																					p.R203W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C607T	X						.						110.0	88.0	95.0					X																	10534981		2203	4300	6503	10494981	SO:0001583	missense	4281	exon2			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.607C>T	X.37:g.10534981G>A	ENSP00000312678:p.Arg203Trp	Somatic		Capture	Illumina HiSeq	Phase_I	10494981	NM_001193277	B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393300	0.62066	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000413894	T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.64	5.64	0.86602	Zinc finger, B-box (3);	0.054878	0.64402	D	0.000001	T	0.69061	0.3069	M	0.71871	2.18	0.58432	D	0.999997	D;D;D	0.89917	0.999;0.999;1.0	P;P;D	0.67103	0.87;0.886;0.949	T	0.72557	-0.4257	10	0.87932	D	0	.	12.4006	0.55410	0.0:0.0:0.7065:0.2935	.	203;203;203	C9J453;O15344-2;O15344	.;.;TRI18_HUMAN	W	203	ENSP00000414521:R203W;ENSP00000312678:R203W;ENSP00000370162:R203W;ENSP00000370156:R203W;ENSP00000370164:R203W;ENSP00000370157:R203W;ENSP00000370159:R203W;ENSP00000391154:R203W	ENSP00000312678:R203W	R	-	1	2	MID1	10494981	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.012000	0.49575	2.386000	0.81285	0.600000	0.82982	CGG		0.512	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1		
IRS4	8471	broad.mit.edu	37	X	107977217	107977217	+	Silent	SNP	G	G	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chrX:107977217G>A	ENST00000372129.2	-	1	2434	c.2358C>T	c.(2356-2358)gcC>gcT	p.A786A	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	786	CRK-binding.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.A786A(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GAATTGCACCGGCTCCAGGAG	0.483																																					p.A786A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2358T	X						.						130.0	138.0	135.0					X																	107977217		2203	4300	6503	107863873	SO:0001819	synonymous_variant	8471	exon1			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2358C>T	X.37:g.107977217G>A		Somatic		Capture	Illumina HiSeq	Phase_I	107863873	NM_003604		Silent	SNP	ENST00000372129.2	37	CCDS14544.1																																																																																				0.483	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
MECP2	4204	broad.mit.edu	37	X	153296368	153296368	+	Missense_Mutation	SNP	T	T	C	rs63749747|rs267608550		TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chrX:153296368T>C	ENST00000303391.6	-	4	1160	c.911A>G	c.(910-912)aAg>aGg	p.K304R	MECP2_ENST00000453960.2_Missense_Mutation_p.K316R|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	304					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)	p.K304R(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGCGCTTCTTGATGGGGAG	0.602																																					p.K304R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A911G	X	GRCh37	CM023417	MECP2	M		.						86.0	73.0	77.0					X																	153296368		2203	4300	6503	152949562	SO:0001583	missense	4204	exon4			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.911A>G	X.37:g.153296368T>C	ENSP00000301948:p.Lys304Arg	Somatic		Capture	Illumina HiSeq	Phase_I	152949562	NM_004992	O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949002	0.73787	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960	D;D	0.95377	-3.69;-3.69	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.95149	0.8428	L	0.27053	0.805	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.956	D	0.94161	0.7414	10	0.32370	T	0.25	-16.4259	12.8298	0.57740	0.0:0.0:0.0:1.0	.	316;304	P51608-2;P51608	.;MECP2_HUMAN	R	304;304;316	ENSP00000301948:K304R;ENSP00000395535:K316R	ENSP00000301948:K304R	K	-	2	0	MECP2	152949562	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.283000	0.78640	1.874000	0.54306	0.486000	0.48141	AAG		0.602	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992	
MAGED1	9500	broad.mit.edu	37	X	51639689	51639689	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chrX:51639689C>A	ENST00000375722.1	+	4	1190	c.938C>A	c.(937-939)gCc>gAc	p.A313D	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.A313D|MAGED1_ENST00000375772.3_Missense_Mutation_p.A313D|MAGED1_ENST00000375695.2_Missense_Mutation_p.A369D			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	313	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.A369D(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AACCAGACAGCCAGGCAGACC	0.622										Multiple Myeloma(10;0.10)																											p.A313D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C938A	X						.						51.0	48.0	49.0					X																	51639689		2203	4300	6503	51656429	SO:0001583	missense	9500	exon4			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.938C>A	X.37:g.51639689C>A	ENSP00000364874:p.Ala313Asp	Somatic		Capture	Illumina HiSeq	Phase_I	51656429	NM_006986	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860785	0.51482	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	3.8	1.91	0.25777	.	0.449374	0.16563	N	0.208966	T	0.47358	0.1441	L	0.34521	1.04	0.26682	N	0.971524	D;D	0.64830	0.993;0.994	P;P	0.59889	0.865;0.795	T	0.30563	-0.9974	10	0.51188	T	0.08	.	5.9165	0.19057	0.189:0.6971:0.0:0.1139	.	369;313	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	D	313;313;313;369	ENSP00000364927:A313D;ENSP00000364874:A313D;ENSP00000325333:A313D;ENSP00000364847:A369D	ENSP00000325333:A313D	A	+	2	0	MAGED1	51656429	0.088000	0.21588	0.998000	0.56505	0.992000	0.81027	0.839000	0.27586	0.193000	0.20303	0.429000	0.28392	GCC		0.622	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332	
ITIH6	347365	broad.mit.edu	37	X	54784026	54784026	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chrX:54784026C>A	ENST00000218436.6	-	8	2510	c.2481G>T	c.(2479-2481)agG>agT	p.R827S		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	827	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R827S(1)									GAGCAGGAACCCTAGGTCTGG	0.527																																					p.R827S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2481T	X						.						129.0	120.0	123.0					X																	54784026		2203	4300	6503	54800751	SO:0001583	missense	347365	exon8			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2481G>T	X.37:g.54784026C>A	ENSP00000218436:p.Arg827Ser	Somatic		Capture	Illumina HiSeq	Phase_I	54800751	NM_198510	A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	7.073	0.568670	0.13560	.	.	ENSG00000102313	ENST00000218436	T	0.02197	4.4	3.91	-4.3	0.03710	.	5.980040	0.01968	U	0.043847	T	0.01092	0.0036	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45614	-0.9249	10	0.29301	T	0.29	.	1.1136	0.01709	0.1466:0.3405:0.1426:0.3703	.	827	Q6UXX5	ITH5L_HUMAN	S	827	ENSP00000218436:R827S	ENSP00000218436:R827S	R	-	3	2	ITIH5L	54800751	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.142000	0.01298	-1.031000	0.03308	0.466000	0.42574	AGG		0.527	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510	
H2AFB1	474382	broad.mit.edu	37	X	154113463	154113463	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3812-01A-01W-0900-09	TCGA-AA-3812-10A-01W-0900-09	g.chrX:154113463C>A	ENST00000354461.2	+	1	147	c.139C>A	c.(139-141)Cgc>Agc	p.R47S	MIR1184-1_ENST00000408606.1_RNA|F8_ENST00000330287.6_Intron|F8A1_ENST00000369446.2_5'Flank|F8_ENST00000360256.4_Intron	NM_001017990.1	NP_001017990.1	P0C5Y9	H2AB1_HUMAN	H2A histone family, member B1	47					mRNA processing (GO:0006397)|nucleosome assembly (GO:0006334)	nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	DNA binding (GO:0003677)	p.R47S(1)		endometrium(1)|large_intestine(1)	2	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTACGCTCAGCGCCTGAGTCG	0.677																																					p.R47S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C139A	X						.						9.0	17.0	16.0					X																	154113463		592	2627	3219	153766657	SO:0001583	missense	474382	exon1				CCDS35458.1	Xq28	2011-01-27			ENSG00000198082	ENSG00000274183		"""Histones / Replication-independent"""	22516	protein-coding gene	gene with protein product							Standard	NM_001017990		Approved			P0C5Y9	OTTHUMG00000034291	ENST00000354461.2:c.139C>A	X.37:g.154113463C>A	ENSP00000346450:p.Arg47Ser	Somatic		Capture	Illumina HiSeq	Phase_I	153766657	NM_001017990	A0PK90|P98176|Q5TZB2|Q6FG78|Q96PR7	Missense_Mutation	SNP	ENST00000354461.2	37	CCDS35458.1	.	.	.	.	.	.	.	.	.	.	N	18.23	3.576973	0.65878	.	.	ENSG00000198082	ENST00000354461	D	0.91407	-2.84	1.5	1.5	0.22942	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.64402	U	0.000001	D	0.94401	0.8199	M	0.88031	2.925	0.36639	D	0.876727	D	0.64830	0.994	D	0.65573	0.936	D	0.94691	0.7874	10	0.87932	D	0	-8.0287	8.5392	0.33382	0.0:1.0:0.0:0.0	.	47	P0C5Y9	H2AB1_HUMAN	S	47	ENSP00000346450:R47S	ENSP00000346450:R47S	R	+	1	0	H2AFB1	153766657	1.000000	0.71417	0.194000	0.23346	0.061000	0.15899	0.807000	0.27140	1.059000	0.40554	0.347000	0.21830	CGC		0.677	H2AFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082835.2	NM_001017990	
