#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KIAA1429	25962	broad.mit.edu	37	8	95508670	95508670	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr8:95508670C>A	ENST00000297591.5	-	18	4344	c.4269G>T	c.(4267-4269)gaG>gaT	p.E1423D	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1423					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TATGAGCTCCCTCTACTTCCA	0.383																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4267-4269)gaG>gaT		KIAA1429							182.0	156.0	165.0					8																	95508670		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95508670C>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4269G>T	8.37:g.95508670C>A	ENSP00000297591:p.Glu1423Asp					KIAA1429_ENST00000437199.1_3'UTR	p.E1423D	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		18	4344	-	Breast(36;3.29e-05)		1423					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.4269G>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549966	0.27652	.	.	ENSG00000164944	ENST00000297591	T	0.46063	0.88	5.52	3.52	0.40303	.	0.512836	0.22268	N	0.062303	T	0.10508	0.0257	N	0.00170	-1.935	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10730	-1.0617	10	0.14252	T	0.57	-5.0683	12.0164	0.53317	0.5815:0.4185:0.0:0.0	.	1423	Q69YN4	VIR_HUMAN	D	1423	ENSP00000297591:E1423D	ENSP00000297591:E1423D	E	-	3	2	KIAA1429	95577846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.795000	0.38784	1.307000	0.44944	0.650000	0.86243	GAG		0.383	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		3	64	1	0	0.115264	0.115264	0.13743	3	64				
ABCC2	1244	broad.mit.edu	37	10	101596001	101596001	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr10:101596001A>T	ENST00000370449.4	+	25	3681	c.3568A>T	c.(3568-3570)Att>Ttt	p.I1190F		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1190	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGAGGTGAGGATTGACACCAA	0.483																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(3568-3570)Att>Ttt		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						127.0	113.0	118.0					10																	101596001		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101596001A>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3568A>T	10.37:g.101596001A>T	ENSP00000359478:p.Ile1190Phe						p.I1190F	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	25	3681	+		Colorectal(252;0.234)	1190			ABC transmembrane type-1 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.3568A>T	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.957627	0.34565	.	.	ENSG00000023839	ENST00000370449	D	0.90069	-2.61	5.48	4.21	0.49690	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.137202	0.64402	D	0.000005	D	0.93602	0.7957	M	0.88775	2.98	0.80722	D	1	P	0.45827	0.867	P	0.57720	0.826	D	0.93246	0.6630	10	0.87932	D	0	-3.9213	9.4128	0.38503	0.8441:0.0:0.1559:0.0	.	1190	Q92887	MRP2_HUMAN	F	1190	ENSP00000359478:I1190F	ENSP00000359478:I1190F	I	+	1	0	ABCC2	101585991	0.847000	0.29606	0.105000	0.21289	0.368000	0.29767	2.446000	0.44908	0.900000	0.36469	0.260000	0.18958	ATT		0.483	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		11	64	0	0	0	0.069234	0	11	64				
VAC14	55697	broad.mit.edu	37	16	70815792	70815792	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr16:70815792G>A	ENST00000261776.5	-	8	1186	c.926C>T	c.(925-927)gCc>gTc	p.A309V		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	309					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GTCATCGTAGGCCAAGCAGGG	0.562																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(925-927)gCc>gTc		Vac14 homolog (S. cerevisiae)							56.0	54.0	55.0					16																	70815792		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70815792G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.926C>T	16.37:g.70815792G>A	ENSP00000261776:p.Ala309Val						p.A309V	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			8	1186	-		Ovarian(137;0.0699)	309					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.926C>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330100	0.95733	.	.	ENSG00000103043	ENST00000261776	.	.	.	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.050648	0.85682	D	0.000000	T	0.60392	0.2265	L	0.55481	1.735	0.80722	D	1	B	0.27013	0.166	B	0.31390	0.129	T	0.56153	-0.8026	9	0.12430	T	0.62	-24.4398	19.5375	0.95260	0.0:0.0:1.0:0.0	.	309	Q08AM6	VAC14_HUMAN	V	309	.	ENSP00000261776:A309V	A	-	2	0	VAC14	69373293	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.452000	0.97615	2.620000	0.88729	0.655000	0.94253	GCC		0.562	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		3	69	0	0	0	0.115264	0	3	69				
HRNR	388697	broad.mit.edu	37	1	152192638	152192638	+	Silent	SNP	G	G	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr1:152192638G>A	ENST00000368801.2	-	3	1542	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	489					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCGTGGCCGGAGGAGTGAC	0.542																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1465-1467)tcC>tcT		hornerin							299.0	280.0	286.0					1																	152192638		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192638G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1467C>T	1.37:g.152192638G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S489S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1542	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		489					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1467C>T	CCDS30859.1																																																																																				0.542	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		4	305	0	0	0	0.014758	0	4	305				
OR1N2	138882	broad.mit.edu	37	9	125316420	125316420	+	Silent	SNP	T	T	C			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr9:125316420T>C	ENST00000373688.2	+	1	1030	c.972T>C	c.(970-972)agT>agC	p.S324S		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TTTTTGTCAGTGGAAAAACAT	0.393																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(970-972)agT>agC		olfactory receptor, family 1, subfamily N, member 2							88.0	89.0	89.0					9																	125316420		2203	4300	6503	SO:0001819	synonymous_variant	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316420T>C		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.972T>C	9.37:g.125316420T>C							p.S324S	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	1030	+			324					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	ENST00000373688.2	37	c.972T>C	CCDS35123.1																																																																																				0.393	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			12	44	0	0	0	0.093190	0	12	44				
CUX1	1523	broad.mit.edu	37	7	101870830	101870830	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr7:101870830C>A	ENST00000292535.7	+	21	3352	c.3314C>A	c.(3313-3315)cCg>cAg	p.P1105Q	CUX1_ENST00000550008.2_Missense_Mutation_p.P1049Q|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P947Q|CUX1_ENST00000546411.2_Missense_Mutation_p.P1003Q|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.P1116Q|CUX1_ENST00000549414.2_Missense_Mutation_p.P1083Q|CUX1_ENST00000547394.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1105					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCCACAACCCCGCTGCCTCTC	0.642																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3346-3348)cCg>cAg		cut-like homeobox 1							56.0	59.0	58.0					7																	101870830		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101870830C>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3314C>A	7.37:g.101870830C>A	ENSP00000292535:p.Pro1105Gln					CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P1105Q|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.P1003Q|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P947Q|CUX1_ENST00000550008.2_Missense_Mutation_p.P1049Q|CUX1_ENST00000549414.2_Missense_Mutation_p.P1083Q	p.P1116Q	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			21	3367	+			1105					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.3347C>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598935	0.66332	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.62105	0.06;0.06;0.06;0.05;0.07;0.05	5.88	5.88	0.94601	Lambda repressor-like, DNA-binding (1);	0.062472	0.64402	D	0.000003	T	0.75591	0.3870	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.953;0.979	T	0.68262	-0.5455	10	0.22706	T	0.39	-19.1185	20.2422	0.98381	0.0:1.0:0.0:0.0	.	1105;1116	P39880;P39880-3	CUX1_HUMAN;.	Q	1116;1105;1083;1049;1003;947	ENSP00000353401:P1116Q;ENSP00000292535:P1105Q;ENSP00000446630:P1083Q;ENSP00000447373:P1049Q;ENSP00000450125:P1003Q;ENSP00000451558:P947Q	ENSP00000292535:P1105Q	P	+	2	0	CUX1	101657550	1.000000	0.71417	0.543000	0.28128	0.583000	0.36354	5.999000	0.70665	2.782000	0.95742	0.655000	0.94253	CCG		0.642	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		3	58	1	0	0.115264	0.115264	0.13743	3	58				
MUC16	94025	broad.mit.edu	37	19	9069428	9069428	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr19:9069428G>T	ENST00000397910.4	-	3	18221	c.18018C>A	c.(18016-18018)caC>caA	p.H6006Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6008	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCTGAAAAGTGAATTGTCT	0.458																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(18016-18018)caC>caA		mucin 16, cell surface associated							207.0	206.0	207.0					19																	9069428		1925	4143	6068	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069428G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18018C>A	19.37:g.9069428G>T	ENSP00000381008:p.His6006Gln						p.H6006Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	18221	-			6008			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18018C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.257	0.415597	0.11870	.	.	ENSG00000181143	ENST00000397910	T	0.25912	1.77	1.36	0.173	0.15036	.	.	.	.	.	T	0.08758	0.0217	N	0.02158	-0.66	.	.	.	B	0.23540	0.087	B	0.14023	0.01	T	0.18681	-1.0329	8	0.87932	D	0	.	5.2389	0.15462	0.0:0.3721:0.6279:0.0	.	6006	B5ME49	.	Q	6006	ENSP00000381008:H6006Q	ENSP00000381008:H6006Q	H	-	3	2	MUC16	8930428	0.000000	0.05858	0.007000	0.13788	0.530000	0.34684	-1.104000	0.03326	0.125000	0.18397	0.281000	0.19383	CAC		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	153	1	0	2.39556e-15	0.076483	3.37557e-15	24	153				
RNF34	80196	broad.mit.edu	37	12	121855480	121855480	+	Silent	SNP	C	C	T			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr12:121855480C>T	ENST00000392464.2	+	3	468	c.399C>T	c.(397-399)ccC>ccT	p.P133P	RNF34_ENST00000361234.5_Silent_p.P133P|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Silent_p.P134P					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		GAAATATACCCATAGATACTT	0.453																																						ENST00000361234.5																			0				breast(1)|large_intestine(1)	2						c.(397-399)ccC>ccT		ring finger protein 34, E3 ubiquitin protein ligase							127.0	120.0	123.0					12																	121855480		2203	4300	6503	SO:0001819	synonymous_variant	80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121855480C>T	AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"""RING-type (C3HC4) zinc fingers"""	17297	protein-coding gene	gene with protein product		608299	"""ring finger protein 34"""			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.399C>T	12.37:g.121855480C>T						RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Silent_p.P133P|RNF34_ENST00000392465.3_Silent_p.P134P	p.P133P	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	3	571	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		133			SAP 1.			Silent	SNP	ENST00000392464.2	37	c.399C>T																																																																																					0.453	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	NM_194271		4	71	0	0	0	0.009096	0	4	71				
PSG6	5675	broad.mit.edu	37	19	43411791	43411791	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr19:43411791G>C	ENST00000292125.2	-	4	966	c.922C>G	c.(922-924)Caa>Gaa	p.Q308E	PSG6_ENST00000187910.2_Missense_Mutation_p.Q308E|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	308	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ATTTCACATTGATAGGGTCCT	0.507																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(922-924)Caa>Gaa		pregnancy specific beta-1-glycoprotein 6																																				SO:0001583	missense	5675							g.chr19:43411791G>C		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.922C>G	19.37:g.43411791G>C	ENSP00000292125:p.Gln308Glu					PSG6_ENST00000292125.2_Missense_Mutation_p.Q308E|PSG6_ENST00000402603.4_Intron	p.Q308E	NM_001031850.3	NP_001027020.1					4	987	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.922C>G	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	0.077	-1.191116	0.01607	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.11712	2.75;2.75	1.42	0.153	0.14897	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02418	0.0074	N	0.00605	-1.335	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.46843	-0.9162	9	0.10111	T	0.7	.	5.3095	0.15823	0.0:0.6249:0.3751:0.0	.	308;308	Q00889;Q00889-2	PSG6_HUMAN;.	E	308	ENSP00000187910:Q308E;ENSP00000292125:Q308E	ENSP00000187910:Q308E	Q	-	1	0	PSG6	48103631	0.042000	0.20092	0.024000	0.17045	0.044000	0.14063	-0.064000	0.11636	-0.074000	0.12820	0.134000	0.15878	CAA		0.507	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		3	206	0	0	0	0.009096	0	3	206				
MT-ND4	4538	broad.mit.edu	37	M	11556	11556	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chrM:11556T>C	ENST00000361381.2	+	1	797	c.797T>C	c.(796-798)cTa>cCa	p.L266P	MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TH_ENST00000387441.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	266					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)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						TGTACTATCCCTATGAGGCAT	0.448																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(796-798)cTa>cCa		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:11556T>C			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.797T>C	M.37:g.11556T>C	ENSP00000354961:p.Leu266Pro						p.266_266insP							1	797	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.797T>C																																																																																					0.448	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		10	3	0	0	0	0.069234	0	10	3				
FAM135B	51059	broad.mit.edu	37	8	139164287	139164287	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr8:139164287A>G	ENST00000395297.1	-	13	2601	c.2431T>C	c.(2431-2433)Tct>Cct	p.S811P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	811										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAGAGCAAGATCCTGGGGAA	0.532										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2431-2433)Tct>Cct		family with sequence similarity 135, member B							68.0	65.0	66.0					8																	139164287		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164287A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2431T>C	8.37:g.139164287A>G	ENSP00000378710:p.Ser811Pro	HNSCC(54;0.14)					p.S811P	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2601	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		811					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2431T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	9.001	0.980043	0.18812	.	.	ENSG00000147724	ENST00000395297	T	0.14893	2.47	5.39	-1.9	0.07665	.	1.820710	0.02202	N	0.062342	T	0.06050	0.0157	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23440	-1.0188	10	0.28530	T	0.3	0.6741	1.2603	0.02000	0.2481:0.2051:0.3848:0.162	.	811;811;811	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	P	811	ENSP00000378710:S811P	ENSP00000276737:S811P	S	-	1	0	FAM135B	139233469	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.241000	0.08940	-0.045000	0.13468	-0.132000	0.14878	TCT		0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		4	56	0	0	0	0.009096	0	4	56				
MYH8	4626	broad.mit.edu	37	17	10304037	10304037	+	Silent	SNP	C	C	T	rs78443907		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr17:10304037C>T	ENST00000403437.2	-	27	3499	c.3405G>A	c.(3403-3405)gcG>gcA	p.A1135A	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1135					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTGCTTCTCCGCTTTGGCTC	0.557									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				C|||	1	0.000199681	0.0008	0.0	5008	,	,		17514	0.0		0.0	False		,,,				2504	0.0					ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3403-3405)gcG>gcA		myosin, heavy chain 8, skeletal muscle, perinatal		C		0,4406		0,0,2203	54.0	61.0	59.0		3405	0.3	1.0	17	dbSNP_131	59	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MYH8	NM_002472.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		1135/1938	10304037	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304037C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3405G>A	17.37:g.10304037C>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.A1135A	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			27	3499	-			1135					Q14910	Silent	SNP	ENST00000403437.2	37	c.3405G>A	CCDS11153.1																																																																																				0.557	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		4	104	0	0	0	0.009096	0	4	104				
ALPK1	80216	broad.mit.edu	37	4	113353377	113353377	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr4:113353377G>A	ENST00000458497.1	+	11	2953	c.2674G>A	c.(2674-2676)Gta>Ata	p.V892I	ALPK1_ENST00000177648.9_Missense_Mutation_p.V892I|ALPK1_ENST00000504176.2_Missense_Mutation_p.V814I	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	892							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAATTCCTCTGTAAGCGGTAA	0.552																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(2674-2676)Gta>Ata		alpha-kinase 1							103.0	101.0	102.0					4																	113353377		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113353377G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2674G>A	4.37:g.113353377G>A	ENSP00000398048:p.Val892Ile					ALPK1_ENST00000504176.2_Missense_Mutation_p.V814I|ALPK1_ENST00000177648.9_Missense_Mutation_p.V892I	p.V892I	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	2953	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	892					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.2674G>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591173	0.28357	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02579	4.31;4.31;4.24	5.17	-2.26	0.06867	.	1.283640	0.05158	N	0.497258	T	0.03477	0.0100	M	0.64997	1.995	0.09310	N	1	B;B;B	0.26318	0.053;0.146;0.031	B;B;B	0.22152	0.022;0.038;0.014	T	0.45086	-0.9285	10	0.37606	T	0.19	0.6981	1.5291	0.02532	0.1492:0.2799:0.2221:0.3488	.	814;814;892	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	I	892;892;814	ENSP00000398048:V892I;ENSP00000177648:V892I;ENSP00000426044:V814I	ENSP00000177648:V892I	V	+	1	0	ALPK1	113572826	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	0.068000	0.14531	-0.338000	0.08413	0.655000	0.94253	GTA		0.552	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		6	102	0	0	0	0.021553	0	6	102				
CYLC2	1539	broad.mit.edu	37	9	105767017	105767017	+	Missense_Mutation	SNP	C	C	A	rs188765977		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr9:105767017C>A	ENST00000374798.3	+	4	291	c.221C>A	c.(220-222)cCa>cAa	p.P74Q	CYLC2_ENST00000487798.1_Missense_Mutation_p.P74Q	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	74	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CGTAGACAACCATTATGGATG	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		15253	0.0		0.001	False		,,,				2504	0.0					ENST00000374798.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(220-222)cCa>cAa		cylicin, basic protein of sperm head cytoskeleton 2							85.0	81.0	83.0					9																	105767017		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767017C>A	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.221C>A	9.37:g.105767017C>A	ENSP00000420256:p.Pro74Gln					CYLC2_ENST00000487798.1_Missense_Mutation_p.P74Q	p.P74Q	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN			4	291	+		all_hematologic(171;0.125)	74			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.221C>A	CCDS35085.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.71	3.197866	0.58126	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.23552	1.9;1.9	4.53	4.53	0.55603	.	0.000000	0.42964	D	0.000636	T	0.48466	0.1501	M	0.71581	2.175	0.34192	D	0.672217	D	0.89917	1.0	D	0.80764	0.994	T	0.62784	-0.6781	10	0.66056	D	0.02	-21.7515	12.9751	0.58532	0.0:1.0:0.0:0.0	.	74	Q14093	CYLC2_HUMAN	Q	74	ENSP00000420256:P74Q;ENSP00000417674:P74Q	ENSP00000420256:P74Q	P	+	2	0	CYLC2	104806838	0.767000	0.28508	0.953000	0.39169	0.664000	0.39144	3.221000	0.51215	2.511000	0.84671	0.591000	0.81541	CCA		0.378	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		14	26	1	0	6.31663e-08	0.132662	8.51371e-08	14	26				
EMC4	51234	broad.mit.edu	37	15	34520681	34520681	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr15:34520681A>G	ENST00000267750.4	+	4	523	c.407A>G	c.(406-408)tAt>tGt	p.Y136C	EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Intron|EMC4_ENST00000249209.4_Intron|EMC4_ENST00000557879.1_3'UTR	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	136					apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GGTTTGGTCTATCTCATTGGG	0.443																																						ENST00000267750.4																			0											c.(406-408)tAt>tGt		ER membrane protein complex subunit 4							206.0	189.0	195.0					15																	34520681		2201	4298	6499	SO:0001583	missense	51234							g.chr15:34520681A>G	BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"""transmembrane protein 85"""	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.407A>G	15.37:g.34520681A>G	ENSP00000267750:p.Tyr136Cys					EMC4_ENST00000249209.4_Intron|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Intron|EMC4_ENST00000557879.1_3'UTR	p.Y136C	NM_016454.2	NP_057538.1					4	523	+								A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Missense_Mutation	SNP	ENST00000267750.4	37	c.407A>G	CCDS10035.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932092	0.73442	.	.	ENSG00000128463	ENST00000267750	T	0.62105	0.05	5.99	4.85	0.62838	.	0.055802	0.85682	D	0.000000	T	0.79179	0.4402	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81371	-0.0963	10	0.87932	D	0	-7.388	11.7221	0.51688	0.8674:0.0:0.0:0.1326	.	136	Q5J8M3	TMM85_HUMAN	C	136	ENSP00000267750:Y136C	ENSP00000267750:Y136C	Y	+	2	0	TMEM85	32307973	1.000000	0.71417	0.990000	0.47175	0.963000	0.63663	6.437000	0.73421	1.076000	0.40961	0.449000	0.29647	TAT		0.443	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454		32	107	0	0	0	0.134883	0	32	107				
SLC6A8	6535	broad.mit.edu	37	X	152956776	152956776	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chrX:152956776A>G	ENST00000253122.5	+	3	888	c.412A>G	c.(412-414)Atg>Gtg	p.M138V	SLC6A8_ENST00000430077.2_Missense_Mutation_p.M23V	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	138					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CTACGCCTCCATGGTGATCGT	0.607																																						ENST00000253122.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(412-414)Atg>Gtg		solute carrier family 6 (neurotransmitter transporter), member 8	Creatine(DB00148)						42.0	35.0	37.0					X																	152956776		2195	4291	6486	SO:0001583	missense	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152956776A>G		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.412A>G	X.37:g.152956776A>G	ENSP00000253122:p.Met138Val					SLC6A8_ENST00000430077.2_Missense_Mutation_p.M23V	p.M138V	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN			3	888	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		138					B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	c.412A>G	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	a	3.609	-0.079894	0.07141	.	.	ENSG00000130821	ENST00000253122;ENST00000430077	T;T	0.71461	-0.57;-0.57	3.76	3.76	0.43208	.	.	.	.	.	T	0.40196	0.1107	N	0.04132	-0.27	0.35408	D	0.792215	B;B;B	0.11235	0.003;0.004;0.002	B;B;B	0.18263	0.01;0.01;0.021	T	0.42666	-0.9438	9	0.02654	T	1	.	6.1864	0.20500	0.8788:0.0:0.1212:0.0	.	138;157;138	D3DWV2;Q59EV7;P48029	.;.;SC6A8_HUMAN	V	138;23	ENSP00000253122:M138V;ENSP00000403041:M23V	ENSP00000253122:M138V	M	+	1	0	SLC6A8	152609970	0.881000	0.30235	1.000000	0.80357	0.952000	0.60782	1.393000	0.34497	1.390000	0.46547	0.356000	0.21956	ATG		0.607	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			9	10	0	0	0	0.047766	0	9	10				
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T	rs570609187	byFrequency	TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr17:21730847G>T	ENST00000578713.1	+	1	153	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000584755.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21142	0.002		0.0	False		,,,				2504	0.0					ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(148-150)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730847G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.149G>T	17.37:g.21730847G>T	ENSP00000464265:p.Arg50Leu					UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron	p.R50L							2	546	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.149G>T																																																																																					0.522	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	46	1	0	0.00909568	0.009096	0.0117486	4	46				
ZBTB39	9880	broad.mit.edu	37	12	57398352	57398352	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr12:57398352G>A	ENST00000300101.2	-	2	435	c.350C>T	c.(349-351)gCc>gTc	p.A117V		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGAGTGACAGGCCTGGAGGAG	0.557																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(349-351)gCc>gTc		zinc finger and BTB domain containing 39							77.0	70.0	72.0					12																	57398352		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57398352G>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.350C>T	12.37:g.57398352G>A	ENSP00000300101:p.Ala117Val						p.A117V	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	435	-			117					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.350C>T	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339651	0.41398	.	.	ENSG00000166860	ENST00000300101	T	0.68624	-0.34	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	N	0.25890	0.77	0.58432	D	0.999998	D	0.63046	0.992	D	0.65874	0.939	T	0.69304	-0.5180	10	0.35671	T	0.21	-21.3566	17.8376	0.88704	0.0:0.0:1.0:0.0	.	117	O15060	ZBT39_HUMAN	V	117	ENSP00000300101:A117V	ENSP00000300101:A117V	A	-	2	0	ZBTB39	55684619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.354000	0.73036	2.815000	0.96918	0.561000	0.74099	GCC		0.557	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		13	56	0	0	0	0.105934	0	13	56				
THSD1	55901	broad.mit.edu	37	13	52952229	52952229	+	Missense_Mutation	SNP	G	G	A	rs144799411		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr13:52952229G>A	ENST00000258613.4	-	5	2054	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	THSD1_ENST00000349258.4_Missense_Mutation_p.R573C|THSD1_ENST00000544466.1_Missense_Mutation_p.R247C	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	626					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TGTGACTTGCGGATCAGAGTC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		15632	0.0		0.001	False		,,,				2504	0.0					ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1717-1719)Cgc>Tgc		thrombospondin, type I, domain containing 1							48.0	47.0	48.0					13																	52952229		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952229G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1876C>T	13.37:g.52952229G>A	ENSP00000258613:p.Arg626Cys					THSD1_ENST00000544466.1_Missense_Mutation_p.R247C|THSD1_ENST00000258613.4_Missense_Mutation_p.R626C	p.R573C	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	2261	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	626					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.1717C>T	CCDS9432.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.01	3.000795	0.54254	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.33865	2.12;1.39;2.3	5.34	5.34	0.76211	.	0.346182	0.29653	N	0.011544	T	0.52933	0.1765	M	0.62723	1.935	0.45580	D	0.998525	D;D	0.89917	0.999;1.0	P;P	0.60415	0.809;0.874	T	0.55579	-0.8119	10	0.87932	D	0	-22.7323	13.701	0.62608	0.0:0.0:0.8358:0.1642	.	573;626	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	C	573;247;626	ENSP00000340650:R573C;ENSP00000438512:R247C;ENSP00000258613:R626C	ENSP00000258613:R626C	R	-	1	0	THSD1	51850230	0.994000	0.37717	0.939000	0.37840	0.535000	0.34838	2.712000	0.47186	2.508000	0.84585	0.552000	0.68991	CGC		0.622	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			5	60	0	0	0	0.014758	0	5	60				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	35	0	0	0	0.074837	0	37	35				
OR6S1	341799	broad.mit.edu	37	14	21108936	21108936	+	Silent	SNP	C	C	T			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr14:21108936C>T	ENST00000320704.3	-	1	914	c.915G>A	c.(913-915)aaG>aaA	p.K305K		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TAAACATGTCCTTCAAAGCTT	0.398																																						ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(913-915)aaG>aaA		olfactory receptor, family 6, subfamily S, member 1							187.0	177.0	180.0					14																	21108936		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21108936C>T	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.915G>A	14.37:g.21108936C>T							p.K305K	NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	914	-	all_cancers(95;0.00304)		305					Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.915G>A	CCDS32038.1																																																																																				0.398	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			4	129	0	0	0	0.009096	0	4	129				
MT-ND5	4540	broad.mit.edu	37	M	13145	13145	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chrM:13145G>A	ENST00000361567.2	+	1	809	c.809G>A	c.(808-810)aGc>aAc	p.S270N	MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-CYB_ENST00000361789.2_5'Flank			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	270					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)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						AGCAGAAAATAGCCCACTAAT	0.483																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(808-810)aGc>aAc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13145G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.809G>A	M.37:g.13145G>A	ENSP00000354813:p.Ser270Asn						p.S270N			P03915	NU5M_HUMAN			1	809	+			270					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.809G>A																																																																																					0.483	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		7	12	0	0	0	0.038147	0	7	12				
ARAP3	64411	broad.mit.edu	37	5	141051756	141051756	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr5:141051756C>T	ENST00000239440.4	-	10	1563	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	ARAP3_ENST00000508305.1_Missense_Mutation_p.A422T|ARAP3_ENST00000513878.1_Missense_Mutation_p.A162T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	500	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCCGGTTGGCCCGATTAGAC	0.622																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1498-1500)Gcc>Acc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							126.0	124.0	125.0					5																	141051756		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141051756C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1498G>A	5.37:g.141051756C>T	ENSP00000239440:p.Ala500Thr					ARAP3_ENST00000513878.1_Missense_Mutation_p.A162T|ARAP3_ENST00000508305.1_Missense_Mutation_p.A422T	p.A500T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			10	1563	-			500			Arf-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1498G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.439065	0.43326	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.43294	0.95;0.95;0.95	3.51	2.64	0.31445	.	0.283376	0.28349	N	0.015679	T	0.29321	0.0730	L	0.41356	1.27	0.32297	N	0.565504	B;B;B	0.33637	0.011;0.42;0.134	B;B;B	0.32289	0.084;0.143;0.047	T	0.36915	-0.9728	10	0.62326	D	0.03	.	5.4179	0.16384	0.1975:0.6926:0.0:0.1099	.	162;422;500	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	T	422;500;162	ENSP00000421826:A422T;ENSP00000239440:A500T;ENSP00000421468:A162T	ENSP00000239440:A500T	A	-	1	0	ARAP3	141031940	0.995000	0.38212	1.000000	0.80357	0.909000	0.53808	2.059000	0.41384	0.682000	0.31407	0.563000	0.77884	GCC		0.622	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		4	215	0	0	0	0.009096	0	4	215				
STEAP2-AS1	100874100	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs58370593	byFrequency	TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA					STEAP2 antisense RNA 1																		GGTGCGGGCCTCCCCCTTCCCC	0.639													?|CCCCC|CCCCCC|unsure	3349	0.66873	0.7171	0.621	5008	,	,		14308	0.8095		0.5199	False		,,,				2504	0.6452					ENST00000478318.2																			0																																																			0							g.chr7:89748927_89748928insC			7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89748932_89748932dupC						DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA								0	424	-									RNA	INS	ENST00000478318.2	37																																																																																						0.639	STEAP2-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000350909.2			2	4						2	4	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-	rs370076329		TCGA-EL-A3H4-01A-11D-A202-08	TCGA-EL-A3H4-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab87a622-eaae-46ec-a95e-100c1b13cf40	0f25a77c-f63d-48e3-926d-dc04145d4501	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGCAGTGCCCACATGGAGAAG	0.572																																						ENST00000603901.1																			0																																																			0							g.chr7:142482025delA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482025delA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	3						4	3	---	---	---	---
