#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
ABCC2	1244	broad.mit.edu	37	10	101559038	101559038	+	Silent	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr10:101559038G>A	ENST00000370449.4	+	8	1055	c.942G>A	c.(940-942)ctG>ctA	p.L314L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	314					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)	TGAAGGCTCTGTTCAAAACTT	0.403																																						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.(940-942)ctG>ctA		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						287.0	303.0	298.0					10																	101559038		2203	4300	6503	SO:0001819	synonymous_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101559038G>A	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.942G>A	10.37:g.101559038G>A							p.L314L	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	1055	+		Colorectal(252;0.234)	314					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	c.942G>A	CCDS7484.1																																																																																				0.403	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		8	251	0	0	0	1	0	8	251				
SPP2	6694	broad.mit.edu	37	2	234975872	234975872	+	Silent	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr2:234975872C>T	ENST00000168148.3	+	6	592	c.504C>T	c.(502-504)ctC>ctT	p.L168L	SPP2_ENST00000373368.1_Silent_p.L168L	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	168					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TTACAGGTCTCATTTCAGACG	0.393																																						ENST00000168148.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(502-504)ctC>ctT		secreted phosphoprotein 2, 24kDa							192.0	179.0	183.0					2																	234975872		2203	4300	6503	SO:0001819	synonymous_variant	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234975872C>T		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.504C>T	2.37:g.234975872C>T						SPP2_ENST00000373368.1_Silent_p.L168L	p.L168L	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	6	592	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	168					A4QMV3|Q3B892|Q546M5	Silent	SNP	ENST00000168148.3	37	c.504C>T	CCDS2511.1																																																																																				0.393	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		4	76	0	0	0	1	0	4	76				
OR5D18	219438	broad.mit.edu	37	11	55587255	55587255	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr11:55587255C>G	ENST00000333976.4	+	1	170	c.150C>G	c.(148-150)atC>atG	p.I50M		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTGTGATCATCAAAATCAACC	0.453																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(148-150)atC>atG		olfactory receptor, family 5, subfamily D, member 18							226.0	207.0	214.0					11																	55587255		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587255C>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.150C>G	11.37:g.55587255C>G	ENSP00000335025:p.Ile50Met						p.I50M	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	170	+		all_epithelial(135;0.208)	50					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.150C>G	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	8.975	0.973840	0.18736	.	.	ENSG00000186119	ENST00000333976	T	0.08458	3.09	4.94	0.711	0.18162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001161	T	0.19644	0.0472	M	0.93420	3.415	0.09310	N	1	P	0.36683	0.565	P	0.45856	0.495	T	0.17653	-1.0362	10	0.87932	D	0	-44.8259	2.1574	0.03815	0.3621:0.3684:0.1182:0.1512	.	50	Q8NGL1	OR5DI_HUMAN	M	50	ENSP00000335025:I50M	ENSP00000335025:I50M	I	+	3	3	OR5D18	55343831	0.000000	0.05858	0.952000	0.39060	0.258000	0.26162	-4.605000	0.00209	0.222000	0.20900	-1.168000	0.01747	ATC		0.453	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		15	127	0	0	0	1	0	15	127				
SPEN	23013	broad.mit.edu	37	1	16257698	16257698	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:16257698G>C	ENST00000375759.3	+	11	5167	c.4963G>C	c.(4963-4965)Gag>Cag	p.E1655Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1655					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCAGCACTAGAGAAGACCAC	0.493																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(4963-4965)Gag>Cag		spen family transcriptional repressor							141.0	152.0	148.0					1																	16257698		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16257698G>C		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4963G>C	1.37:g.16257698G>C	ENSP00000364912:p.Glu1655Gln						p.E1655Q	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	5167	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1655					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.4963G>C	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437766	0.25900	.	.	ENSG00000065526	ENST00000375759	T	0.09630	2.96	5.28	5.28	0.74379	.	.	.	.	.	T	0.09774	0.0240	L	0.27053	0.805	0.42271	D	0.992055	P	0.38395	0.629	B	0.34873	0.191	T	0.21075	-1.0256	9	0.33940	T	0.23	-8.9679	18.9092	0.92475	0.0:0.0:1.0:0.0	.	1655	Q96T58	MINT_HUMAN	Q	1655	ENSP00000364912:E1655Q	ENSP00000364912:E1655Q	E	+	1	0	SPEN	16130285	1.000000	0.71417	0.809000	0.32408	0.083000	0.17756	6.737000	0.74816	2.445000	0.82738	0.467000	0.42956	GAG		0.493	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		7	148	0	0	0	1	0	7	148				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	37	0	0	0	1	0	3	37				
RNF213	57674	broad.mit.edu	37	17	78263580	78263580	+	Silent	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr17:78263580G>A	ENST00000582970.1	+	6	1199	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	RNF213_ENST00000508628.2_Silent_p.V401V|RNF213_ENST00000319921.4_Silent_p.V352V|RNF213_ENST00000456466.1_Silent_p.V352V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	352					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGCTGCTGTGAAAAACGAGA	0.527																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(1054-1056)gtG>gtA		ring finger protein 213							74.0	76.0	75.0					17																	78263580		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78263580G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1056G>A	17.37:g.78263580G>A						RNF213_ENST00000456466.1_Silent_p.V352V|RNF213_ENST00000508628.2_Silent_p.V401V|RNF213_ENST00000319921.4_Silent_p.V352V	p.V352V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		6	1199	+	all_neural(118;0.0538)		352					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.1056G>A	CCDS58606.1																																																																																				0.527	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		3	24	0	0	0	1	0	3	24				
MCF2	4168	broad.mit.edu	37	X	138699732	138699732	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chrX:138699732C>A	ENST00000370576.4	-	8	1148	c.939G>T	c.(937-939)gaG>gaT	p.E313D	MCF2_ENST00000536274.1_Missense_Mutation_p.E274D|MCF2_ENST00000519895.1_Missense_Mutation_p.E373D|MCF2_ENST00000520602.1_Missense_Mutation_p.E373D|MCF2_ENST00000414978.1_Missense_Mutation_p.E373D|MCF2_ENST00000338585.6_Missense_Mutation_p.E313D|MCF2_ENST00000370573.4_Missense_Mutation_p.E313D|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000370578.4_Missense_Mutation_p.E458D	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	313					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTGCTTTTATCTCATTAACCA	0.393																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(1117-1119)gaG>gaT		MCF.2 cell line derived transforming sequence							230.0	190.0	204.0					X																	138699732		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138699732C>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.939G>T	X.37:g.138699732C>A	ENSP00000359608:p.Glu313Asp					MCF2_ENST00000414978.1_Missense_Mutation_p.E373D|MCF2_ENST00000338585.6_Missense_Mutation_p.E313D|MCF2_ENST00000519895.1_Missense_Mutation_p.E373D|MCF2_ENST00000536274.1_Missense_Mutation_p.E274D|MCF2_ENST00000370576.4_Missense_Mutation_p.E313D|MCF2_ENST00000370573.4_Missense_Mutation_p.E313D|MCF2_ENST00000370578.4_Missense_Mutation_p.E458D	p.E373D			P10911	MCF2_HUMAN			11	1404	-	Acute lymphoblastic leukemia(192;0.000127)		313					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.1119G>T	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657044	0.47467	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.98	5.13	0.70059	.	0.047548	0.85682	D	0.000000	T	0.49029	0.1533	M	0.72353	2.195	0.26692	N	0.971327	B;B;B;B;B;B;B;B	0.23490	0.005;0.03;0.009;0.005;0.049;0.005;0.086;0.029	B;B;B;B;B;B;B;B	0.31686	0.033;0.021;0.072;0.033;0.072;0.033;0.134;0.033	T	0.46624	-0.9178	10	0.37606	T	0.19	.	10.5047	0.44826	0.0:0.7945:0.1303:0.0752	.	373;458;274;313;313;458;313;313	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	D	373;313;274;458;373;373;313;313	ENSP00000427745:E373D;ENSP00000359608:E313D;ENSP00000438155:E274D;ENSP00000359610:E458D;ENSP00000397055:E373D;ENSP00000430276:E373D;ENSP00000359605:E313D;ENSP00000342204:E313D	ENSP00000342204:E313D	E	-	3	2	MCF2	138527398	1.000000	0.71417	0.991000	0.47740	0.918000	0.54935	1.066000	0.30604	1.279000	0.44446	0.544000	0.68410	GAG		0.393	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		6	74	1	0	0.217242	1	0.217242	6	74				
MMEL1	79258	broad.mit.edu	37	1	2538485	2538485	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:2538485G>C	ENST00000378412.3	-	7	720	c.559C>G	c.(559-561)Cag>Gag	p.Q187E	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000288709.6_Missense_Mutation_p.Q178E			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	187						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AGCAGGGGCTGAGAGCCTCGC	0.652																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(532-534)Cag>Gag		membrane metallo-endopeptidase-like 1							74.0	69.0	71.0					1																	2538485		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2538485G>C	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.559C>G	1.37:g.2538485G>C	ENSP00000367668:p.Gln187Glu					MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Missense_Mutation_p.Q187E	p.Q178E	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	7	772	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	187					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.532C>G	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	g	0.212	-1.035463	0.02029	.	.	ENSG00000142606	ENST00000288709;ENST00000378412	T;T	0.73575	-0.76;-0.76	4.71	-0.926	0.10455	Peptidase M13 (1);	0.689243	0.14899	N	0.291913	T	0.45617	0.1351	N	0.17631	0.505	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.31916	-0.9926	10	0.02654	T	1	-7.3818	1.1237	0.01730	0.187:0.1317:0.3036:0.3777	.	187	Q495T6	MMEL1_HUMAN	E	178;187	ENSP00000288709:Q178E;ENSP00000367668:Q187E	ENSP00000288709:Q178E	Q	-	1	0	MMEL1	2528345	0.122000	0.22280	0.618000	0.29105	0.270000	0.26580	0.438000	0.21559	-0.214000	0.10078	-0.174000	0.13273	CAG		0.652	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		3	36	0	0	0	1	0	3	36				
PEAK1	79834	broad.mit.edu	37	15	77407181	77407181	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr15:77407181C>G	ENST00000560626.2	-	7	5033	c.4558G>C	c.(4558-4560)Gag>Cag	p.E1520Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.E1520Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1520	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										AGCAGGTTCTCTAGGCGTAGA	0.542																																						ENST00000560626.2																			0											c.(4558-4560)Gag>Cag		pseudopodium-enriched atypical kinase 1							49.0	51.0	50.0					15																	77407181		1978	4167	6145	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77407181C>G		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4558G>C	15.37:g.77407181C>G	ENSP00000452796:p.Glu1520Gln					PEAK1_ENST00000312493.4_Missense_Mutation_p.E1520Q	p.E1520Q			Q9H792	PEAK1_HUMAN			7	5033	-			1520			Protein kinase.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.4558G>C	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575302	0.86645	.	.	ENSG00000173517	ENST00000312493	T	0.76316	-1.01	5.03	5.03	0.67393	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.073602	0.52532	U	0.000072	D	0.86797	0.6019	M	0.64997	1.995	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.87242	0.2267	10	0.52906	T	0.07	-11.1642	18.3626	0.90380	0.0:1.0:0.0:0.0	.	1520	Q9H792	PEAK1_HUMAN	Q	1520	ENSP00000309230:E1520Q	ENSP00000309230:E1520Q	E	-	1	0	AC087465.1	75194236	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.818000	0.86416	2.359000	0.80004	0.561000	0.74099	GAG		0.542	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			6	46	0	0	0	1	0	6	46				
SLC40A1	30061	broad.mit.edu	37	2	190430213	190430213	+	Silent	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr2:190430213C>T	ENST00000261024.2	-	6	1053	c.627G>A	c.(625-627)tcG>tcA	p.S209S		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	209					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AGTTCCATCCCGAAATAAAGC	0.488																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(625-627)tcG>tcA		solute carrier family 40 (iron-regulated transporter), member 1							87.0	88.0	88.0					2																	190430213		2203	4300	6503	SO:0001819	synonymous_variant	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190430213C>T	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.627G>A	2.37:g.190430213C>T							p.S209S	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		6	1053	-			209					Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Silent	SNP	ENST00000261024.2	37	c.627G>A	CCDS2299.1																																																																																				0.488	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			4	53	0	0	0	1	0	4	53				
SF3B3	23450	broad.mit.edu	37	16	70595670	70595670	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr16:70595670C>G	ENST00000302516.5	+	17	2482	c.2271C>G	c.(2269-2271)atC>atG	p.I757M		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	757					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TTGTGGCCATCTCCACCAACA	0.542																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(2269-2271)atC>atG		splicing factor 3b, subunit 3, 130kDa							139.0	114.0	123.0					16																	70595670		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70595670C>G	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2271C>G	16.37:g.70595670C>G	ENSP00000305790:p.Ile757Met						p.I757M	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			17	2482	+		Ovarian(137;0.0694)	757					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.2271C>G	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.891937	0.52014	.	.	ENSG00000189091	ENST00000302516	T	0.35605	1.3	5.74	0.536	0.17138	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.93016	3.37	0.58432	D	0.999995	D	0.76494	0.999	D	0.71414	0.973	T	0.65664	-0.6113	10	0.72032	D	0.01	-16.1338	9.2498	0.37549	0.0:0.5965:0.0:0.4035	.	757	Q15393	SF3B3_HUMAN	M	757	ENSP00000305790:I757M	ENSP00000305790:I757M	I	+	3	3	SF3B3	69153171	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	0.994000	0.29693	0.169000	0.19679	-0.471000	0.05019	ATC		0.542	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		6	59	0	0	0	1	0	6	59				
PCDHB8	56128	broad.mit.edu	37	5	140559562	140559562	+	Silent	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr5:140559562C>T	ENST00000239444.2	+	1	2192	c.1947C>T	c.(1945-1947)ggC>ggT	p.G649G	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	649	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGACAATGGCGAGCCTCCGT	0.706																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1945-1947)ggC>ggT									21.0	23.0	22.0					5																	140559562		2142	4198	6340	SO:0001819	synonymous_variant	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559562C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1947C>T	5.37:g.140559562C>T							p.G649G	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2192	+			649			Cadherin 6.		B9EGV1	Silent	SNP	ENST00000239444.2	37	c.1947C>T	CCDS4250.1																																																																																				0.706	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		4	42	0	0	0	1	0	4	42				
BEND7	222389	broad.mit.edu	37	10	13481367	13481367	+	Silent	SNP	G	G	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr10:13481367G>C	ENST00000396900.2	-	9	1364	c.1365C>G	c.(1363-1365)ctC>ctG	p.L455L	BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000341083.3_Silent_p.L404L			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	455						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TCAGGAGCACGAGATGCTGCT	0.527																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(1210-1212)ctC>ctG		BEN domain containing 7							201.0	179.0	186.0					10																	13481367		2203	4300	6503	SO:0001819	synonymous_variant	222389						protein binding	g.chr10:13481367G>C	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1365C>G	10.37:g.13481367G>C						BEND7_ENST00000396900.2_Silent_p.L455L|BEND7_ENST00000486542.1_5'UTR	p.L404L	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN			9	1508	-			455					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37	c.1212C>G																																																																																					0.527	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		5	53	0	0	0	1	0	5	53				
IQGAP1	8826	broad.mit.edu	37	15	91030272	91030272	+	Missense_Mutation	SNP	G	G	A	rs181919733		TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr15:91030272G>A	ENST00000268182.5	+	32	4235	c.4111G>A	c.(4111-4113)Gtg>Atg	p.V1371M	IQGAP1_ENST00000560738.1_Missense_Mutation_p.V799M	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1371	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CAAGTTCGACGTGCCTGGAGA	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		21565	0.001		0.0	False		,,,				2504	0.0					ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(4111-4113)Gtg>Atg		IQ motif containing GTPase activating protein 1							121.0	105.0	110.0					15																	91030272		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91030272G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4111G>A	15.37:g.91030272G>A	ENSP00000268182:p.Val1371Met					IQGAP1_ENST00000560738.1_Missense_Mutation_p.V799M	p.V1371M	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		32	4235	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1371			C2.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.4111G>A	CCDS10362.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.18	3.049084	0.55110	.	.	ENSG00000140575	ENST00000268182	T	0.48201	0.82	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	L	0.31420	0.93	0.58432	D	0.999998	B	0.30033	0.266	B	0.23018	0.043	T	0.11867	-1.0570	10	0.33940	T	0.23	-22.8128	12.1513	0.54051	0.0776:0.0:0.9224:0.0	.	1371	P46940	IQGA1_HUMAN	M	1371	ENSP00000268182:V1371M	ENSP00000268182:V1371M	V	+	1	0	IQGAP1	88831276	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.983000	0.88140	2.672000	0.90937	0.557000	0.71058	GTG		0.433	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		7	66	0	0	0	1	0	7	66				
SYTL4	94121	broad.mit.edu	37	X	99931103	99931103	+	Missense_Mutation	SNP	C	C	T	rs143469082	byFrequency	TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chrX:99931103C>T	ENST00000372989.1	-	19	2269	c.1938G>A	c.(1936-1938)atG>atA	p.M646I	SYTL4_ENST00000263033.5_Missense_Mutation_p.M646I|SYTL4_ENST00000455616.1_Missense_Mutation_p.M646I|SYTL4_ENST00000454200.2_Missense_Mutation_p.M648I|SYTL4_ENST00000276141.6_Missense_Mutation_p.M646I|RP11-524D16__A.3_ENST00000568809.1_RNA|SYTL4_ENST00000491602.1_5'UTR	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	646					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGTACTGTCGCATCTTCTGCC	0.547													C|||	3	0.000794702	0.0	0.0014	3775	,	,		12312	0.0		0.002	False		,,,				2504	0.0					ENST00000455616.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1936-1938)atG>atA		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	ILE/MET,ILE/MET,ILE/MET	2,3833		0,1,1,1631,570	137.0	97.0	111.0		1938,1938,1938	5.8	1.0	X	dbSNP_134	111	39,6689		0,28,11,2400,1861	yes	missense,missense,missense	SYTL4	NM_001129896.2,NM_001174068.1,NM_080737.2	10,10,10	0,29,12,4031,2431	TT,TC,T,CC,C		0.5797,0.0522,0.3881	probably-damaging,probably-damaging,probably-damaging	646/672,646/672,646/672	99931103	41,10522	2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99931103C>T		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1938G>A	X.37:g.99931103C>T	ENSP00000362080:p.Met646Ile					SYTL4_ENST00000454200.2_Missense_Mutation_p.M648I|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000276141.6_Missense_Mutation_p.M646I|SYTL4_ENST00000263033.5_Missense_Mutation_p.M646I|SYTL4_ENST00000372989.1_Missense_Mutation_p.M646I	p.M646I			Q96C24	SYTL4_HUMAN			18	2284	-			646					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.1938G>A	CCDS14472.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	33	5.234150	0.95207	5.22E-4	0.005797	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.77	5.77	0.91146	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.79741	0.4498	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83099	-0.0129	9	.	.	.	-26.0676	19.0061	0.92851	0.0:1.0:0.0:0.0	.	646	Q96C24	SYTL4_HUMAN	I	646;646;648;646;646	ENSP00000362080:M646I;ENSP00000390252:M646I;ENSP00000403556:M648I;ENSP00000276141:M646I;ENSP00000263033:M646I	.	M	-	3	0	SYTL4	99817759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.437000	0.82529	0.538000	0.68166	ATG		0.547	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		3	23	0	0	0	1	0	3	23				
SPTA1	6708	broad.mit.edu	37	1	158646059	158646059	+	Silent	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:158646059C>T	ENST00000368147.4	-	8	1164	c.984G>A	c.(982-984)gaG>gaA	p.E328E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	328					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E328E(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTGTCAGCTTCTCTGCTTTAG	0.498																																						ENST00000368148.3																			1	Substitution - coding silent(1)	p.E328E(1)	lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(982-984)gaG>gaA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							204.0	191.0	195.0					1																	158646059		1921	4138	6059	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158646059C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.984G>A	1.37:g.158646059C>T						SPTA1_ENST00000368147.3_Silent_p.E328E	p.E328E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			8	1164	-	all_hematologic(112;0.0378)		328					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.984G>A	CCDS41423.1																																																																																				0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	146	0	0	0	1	0	6	146				
CHRNB3	1142	broad.mit.edu	37	8	42586940	42586940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr8:42586940C>T	ENST00000289957.2	+	5	618	c.490C>T	c.(490-492)Cga>Tga	p.R164*		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	164					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	CCCGTTCGACCGACAGAACTG	0.483																																						ENST00000289957.2																			0				endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(490-492)Cga>Tga		cholinergic receptor, nicotinic, beta 3 (neuronal)							69.0	54.0	59.0					8																	42586940		2203	4300	6503	SO:0001587	stop_gained	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42586940C>T	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.490C>T	8.37:g.42586940C>T	ENSP00000289957:p.Arg164*						p.R164*	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	618	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	164					Q15827	Nonsense_Mutation	SNP	ENST00000289957.2	37	c.490C>T	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	c	32	5.123638	0.94429	.	.	ENSG00000147432	ENST00000289957	.	.	.	5.49	1.19	0.21007	.	0.105880	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	14.656	0.68833	0.5048:0.4952:0.0:0.0	.	.	.	.	X	164	.	ENSP00000289957:R164X	R	+	1	2	CHRNB3	42706097	0.000000	0.05858	0.630000	0.29268	0.879000	0.50718	-0.228000	0.09114	0.224000	0.20940	0.650000	0.86243	CGA		0.483	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			3	30	0	0	0	1	0	3	30				
RHOA	387	broad.mit.edu	37	3	49412905	49412905	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr3:49412905C>G	ENST00000418115.1	-	2	502	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q|RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	40					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.E40Q(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ACATAGTTCTCAAACACTGTG	0.438																																						ENST00000418115.1																			1	Substitution - Missense(1)	p.E40Q(1)	upper_aerodigestive_tract(1)	cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(118-120)Gag>Cag		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)						157.0	147.0	150.0					3																	49412905		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49412905C>G	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.118G>C	3.37:g.49412905C>G	ENSP00000400175:p.Glu40Gln					RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q|RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q	p.E40Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	502	-			40					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.118G>C	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246636	0.95305	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	M	0.78801	2.425	0.80722	D	1	B	0.30406	0.278	P	0.45276	0.475	D	0.86575	0.1850	10	0.87932	D	0	.	18.8947	0.92419	0.0:1.0:0.0:0.0	.	40	P61586	RHOA_HUMAN	Q	40	ENSP00000400175:E40Q;ENSP00000394483:E40Q;ENSP00000413587:E40Q;ENSP00000408402:E40Q;ENSP00000400747:E40Q	ENSP00000400175:E40Q	E	-	1	0	RHOA	49387909	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.687000	0.84139	2.809000	0.96659	0.558000	0.71614	GAG		0.438	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		8	84	0	0	0	1	0	8	84				
IRAK3	11213	broad.mit.edu	37	12	66641854	66641854	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:66641854C>G	ENST00000261233.4	+	12	2115	c.1694C>G	c.(1693-1695)tCa>tGa	p.S565*	IRAK3_ENST00000457197.2_Nonsense_Mutation_p.S504*	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GATCCTTCTTCAGAAGCTCCA	0.423																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1693-1695)tCa>tGa		interleukin-1 receptor-associated kinase 3							81.0	89.0	87.0					12																	66641854		2203	4300	6503	SO:0001587	stop_gained	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66641854C>G	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1694C>G	12.37:g.66641854C>G	ENSP00000261233:p.Ser565*					IRAK3_ENST00000457197.2_Nonsense_Mutation_p.S504*	p.S565*	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	12	2115	+			565						Nonsense_Mutation	SNP	ENST00000261233.4	37	c.1694C>G	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	37	6.592354	0.97688	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	.	.	.	5.67	1.8	0.24995	.	1.007560	0.07980	N	0.985424	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0347	5.2397	0.15465	0.0:0.6035:0.1582:0.2382	.	.	.	.	X	565;504	.	.	S	+	2	0	IRAK3	64928121	0.006000	0.16342	0.004000	0.12327	0.067000	0.16453	0.342000	0.19926	0.059000	0.16252	0.561000	0.74099	TCA		0.423	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			12	108	0	0	0	1	0	12	108				
DDC	1644	broad.mit.edu	37	7	50611665	50611665	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:50611665G>A	ENST00000444124.2	-	2	319	c.119C>T	c.(118-120)cCg>cTg	p.P40L	DDC_ENST00000426377.1_Missense_Mutation_p.P40L|DDC_ENST00000431062.1_Missense_Mutation_p.P40L|DDC_ENST00000380984.4_Missense_Mutation_p.P40L|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000357936.5_Missense_Mutation_p.P40L	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	40					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	AGGGATCAGCGGCCGCAGGTA	0.572																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(118-120)cCg>cTg		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						175.0	150.0	159.0					7																	50611665		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50611665G>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.119C>T	7.37:g.50611665G>A	ENSP00000403644:p.Pro40Leu					DDC_ENST00000380984.4_Missense_Mutation_p.P40L|DDC_ENST00000426377.1_Missense_Mutation_p.P40L|DDC_ENST00000357936.5_Missense_Mutation_p.P40L|DDC_ENST00000431062.1_Missense_Mutation_p.P40L	p.P40L	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			2	319	-	Glioma(55;0.08)|all_neural(89;0.245)		40					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.119C>T	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.11|12.11	1.839290|1.839290	0.32513|0.32513	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124;ENST00000380984|ENST00000430300	T;T;T;T;T|.	0.38722|.	1.12;1.12;1.12;1.12;1.12|.	5.92|5.92	4.99|4.99	0.66335|0.66335	Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.507607|.	0.24384|.	N|.	0.038999|.	T|T	0.59945|0.59945	0.2231|0.2231	M|M	0.67569|0.67569	2.06|2.06	0.21445|0.21445	N|N	0.999681|0.999681	P;P|.	0.42337|.	0.776;0.776|.	B;B|.	0.35114|.	0.196;0.196|.	T|T	0.53236|0.53236	-0.8467|-0.8467	10|5	0.87932|.	D|.	0|.	-0.5629|-0.5629	15.9236|15.9236	0.79592|0.79592	0.0:0.0:0.8643:0.1357|0.0:0.0:0.8643:0.1357	.|.	40;40|.	Q53Y41;P20711|.	.;DDC_HUMAN|.	L|C	40|6	ENSP00000350616:P40L;ENSP00000399184:P40L;ENSP00000395069:P40L;ENSP00000403644:P40L;ENSP00000370371:P40L|.	ENSP00000350616:P40L|.	P|R	-|-	2|1	0|0	DDC|DDC	50579159|50579159	0.888000|0.888000	0.30383|0.30383	0.083000|0.083000	0.20561|0.20561	0.182000|0.182000	0.23217|0.23217	4.644000|4.644000	0.61397|0.61397	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.572	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			7	141	0	0	0	1	0	7	141				
TMEM173	340061	broad.mit.edu	37	5	138856034	138856034	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr5:138856034C>T	ENST00000330794.4	-	8	1285	c.952G>A	c.(952-954)Gca>Aca	p.A318T	TMEM173_ENST00000511850.1_5'Flank	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	318	c-di-GMP-binding domain (CBD).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGTCATCTGCAGGTTCTGGA	0.542																																						ENST00000330794.4																			0				endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(952-954)Gca>Aca		transmembrane protein 173							47.0	45.0	46.0					5																	138856034		2203	4300	6503	SO:0001583	missense	340061				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding	g.chr5:138856034C>T		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.952G>A	5.37:g.138856034C>T	ENSP00000331288:p.Ala318Thr						p.A318T	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		8	1285	-			318					A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation	SNP	ENST00000330794.4	37	c.952G>A	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	C	2.298	-0.360838	0.05103	.	.	ENSG00000184584	ENST00000330794	T	0.22945	1.93	4.89	1.81	0.25067	.	0.985508	0.08284	N	0.969449	T	0.14874	0.0359	N	0.20685	0.6	0.09310	N	0.999999	B	0.16802	0.019	B	0.14578	0.011	T	0.37103	-0.9720	10	0.20519	T	0.43	1.6694	5.7639	0.18215	0.184:0.6516:0.0:0.1644	.	318	Q86WV6	TM173_HUMAN	T	318	ENSP00000331288:A318T	ENSP00000331288:A318T	A	-	1	0	TMEM173	138836218	0.001000	0.12720	0.478000	0.27316	0.082000	0.17680	0.566000	0.23593	0.084000	0.17077	0.462000	0.41574	GCA		0.542	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		5	26	0	0	0	1	0	5	26				
UTP11L	51118	broad.mit.edu	37	1	38484759	38484759	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:38484759A>T	ENST00000373014.4	+	5	432	c.371A>T	c.(370-372)cAt>cTt	p.H124L	UTP11L_ENST00000537711.1_Missense_Mutation_p.H124L|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	124					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCAGAGCTCCATCTGCTGGAT	0.363																																						ENST00000373014.4																			0				NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(370-372)cAt>cTt		UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)							86.0	86.0	86.0					1																	38484759		2203	4300	6503	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38484759A>T	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.371A>T	1.37:g.38484759A>T	ENSP00000362105:p.His124Leu					UTP11L_ENST00000537711.1_Missense_Mutation_p.H124L|UTP11L_ENST00000488453.1_3'UTR	p.H124L	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN			5	432	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	124					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.371A>T	CCDS429.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.791478	0.90367	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.78641	0.4315	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76170	-0.3057	9	0.23891	T	0.37	-23.543	16.069	0.80909	1.0:0.0:0.0:0.0	.	124	Q9Y3A2	UTP11_HUMAN	L	124	.	ENSP00000362105:H124L	H	+	2	0	UTP11L	38257346	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.590000	0.82653	2.275000	0.75901	0.528000	0.53228	CAT		0.363	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		4	58	0	0	0	1	0	4	58				
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					ENST00000567960.1																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)																																																197331							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						TUBB8P7_ENST00000564451.1_RNA								0	314	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	19	0	0	0	1	0	4	19				
MYO16	23026	broad.mit.edu	37	13	109535433	109535433	+	Silent	SNP	A	A	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr13:109535433A>T	ENST00000357550.2	+	12	1427	c.1386A>T	c.(1384-1386)tcA>tcT	p.S462S	MYO16_ENST00000356711.2_Silent_p.S462S|MYO16_ENST00000251041.5_Silent_p.S462S	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCAGCTCCTCAGGGAAGCTGT	0.542																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(1384-1386)tcA>tcT		myosin XVI							172.0	145.0	154.0					13																	109535433		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109535433A>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1386A>T	13.37:g.109535433A>T						MYO16_ENST00000251041.5_Silent_p.S462S|MYO16_ENST00000357550.2_Silent_p.S462S	p.S462S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		13	1512	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		462			Myosin head-like 1.			Silent	SNP	ENST00000357550.2	37	c.1386A>T	CCDS32008.1																																																																																				0.542	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		7	123	0	0	0	1	0	7	123				
LARP4	113251	broad.mit.edu	37	12	50869453	50869453	+	Missense_Mutation	SNP	G	G	T	rs374242008		TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:50869453G>T	ENST00000398473.2	+	16	2093	c.1981G>T	c.(1981-1983)Gtt>Ttt	p.V661F	LARP4_ENST00000347328.5_Missense_Mutation_p.V590F|LARP4_ENST00000429001.3_Missense_Mutation_p.V667F|LARP4_ENST00000293618.8_Missense_Mutation_p.V590F|LARP4_ENST00000518444.1_Missense_Mutation_p.V660F	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	661					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TGAGAACTCCGTTGAGAAACC	0.488																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(1981-1983)Gtt>Ttt		La ribonucleoprotein domain family, member 4							98.0	99.0	99.0					12																	50869453		1859	4101	5960	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50869453G>T	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1981G>T	12.37:g.50869453G>T	ENSP00000381490:p.Val661Phe					LARP4_ENST00000429001.3_Missense_Mutation_p.V667F|LARP4_ENST00000293618.8_Missense_Mutation_p.V590F|LARP4_ENST00000347328.5_Missense_Mutation_p.V590F|LARP4_ENST00000518444.1_Missense_Mutation_p.V660F	p.V661F	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			16	2093	+			661					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.1981G>T	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684472	0.47991	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.04	-3.6	0.04570	.	1.818080	0.02085	N	0.052697	T	0.18718	0.0449	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B;B	0.33448	0.001;0.002;0.003;0.001;0.001;0.001;0.412	B;B;B;B;B;B;B	0.30251	0.004;0.004;0.005;0.001;0.002;0.002;0.113	T	0.03807	-1.1002	10	0.15066	T	0.55	.	1.4633	0.02400	0.2512:0.0847:0.39:0.2741	.	542;71;660;590;590;661;667	Q71RC2-2;Q8WVX5;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;.;LARP4_HUMAN;.	F	590;667;661;660;542;590	ENSP00000293618:V590F;ENSP00000415464:V667F;ENSP00000381490:V661F;ENSP00000429077:V660F;ENSP00000340901:V590F	ENSP00000293618:V590F	V	+	1	0	LARP4	49155720	0.000000	0.05858	0.004000	0.12327	0.961000	0.63080	-0.222000	0.09190	-0.831000	0.04256	0.643000	0.83706	GTT		0.488	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		8	115	1	0	0.000274275	1	0.000287132	8	115				
DHRS7C	201140	broad.mit.edu	37	17	9684831	9684831	+	Missense_Mutation	SNP	C	C	G	rs377015739		TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr17:9684831C>G	ENST00000330255.5	-	2	247	c.235G>C	c.(235-237)Gat>Cat	p.D79H	DHRS7C_ENST00000571134.1_Missense_Mutation_p.D79H	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	79					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)	p.D79N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ATCAAGGCATCATATAGGTTC	0.547																																						ENST00000330255.4																			1	Substitution - Missense(1)	p.D79N(1)	NS(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(235-237)Gat>Cat		dehydrogenase/reductase (SDR family) member 7C							82.0	89.0	87.0					17																	9684831		2031	4182	6213	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9684831C>G		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.235G>C	17.37:g.9684831C>G	ENSP00000327975:p.Asp79His					DHRS7C_ENST00000571134.1_Missense_Mutation_p.D79H	p.D79H	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN			2	247	-			79					B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.235G>C	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836655	0.50951	.	.	ENSG00000184544	ENST00000330255	T	0.53857	0.6	5.04	5.04	0.67666	NAD(P)-binding domain (1);	0.111499	0.64402	D	0.000017	T	0.66684	0.2814	L	0.50993	1.605	0.52501	D	0.999953	D;D	0.64830	0.994;0.989	D;P	0.66497	0.944;0.894	T	0.68758	-0.5324	10	0.59425	D	0.04	.	17.1587	0.86798	0.0:1.0:0.0:0.0	.	79;76	A6NNS2;B9EJH3	DRS7C_HUMAN;.	H	79	ENSP00000327975:D79H	ENSP00000327975:D79H	D	-	1	0	DHRS7C	9625556	1.000000	0.71417	0.050000	0.19076	0.162000	0.22319	4.545000	0.60698	2.354000	0.79902	0.557000	0.71058	GAT		0.547	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		7	55	0	0	0	1	0	7	55				
CEP57L1	285753	broad.mit.edu	37	6	109481812	109481812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:109481812G>T	ENST00000517392.1	+	10	1480	c.1054G>T	c.(1054-1056)Gaa>Taa	p.E352*	CEP57L1_ENST00000521522.1_Nonsense_Mutation_p.E299*|CEP57L1_ENST00000359793.3_Nonsense_Mutation_p.E352*|CEP57L1_ENST00000368968.2_Nonsense_Mutation_p.E352*|CEP57L1_ENST00000368970.2_Nonsense_Mutation_p.E369*|CEP57L1_ENST00000523787.1_Nonsense_Mutation_p.E355*|CEP57L1_ENST00000407272.1_Nonsense_Mutation_p.E352*|CEP57L1_ENST00000336977.4_Nonsense_Mutation_p.E252*|CEP57L1_ENST00000520883.1_Nonsense_Mutation_p.E252*	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	352					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						GAAGGAAACTGAAAGTCATTC	0.328																																						ENST00000407272.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						c.(1054-1056)Gaa>Taa		centrosomal protein 57kDa-like 1							87.0	85.0	86.0					6																	109481812		2203	4299	6502	SO:0001587	stop_gained	285753					microtubule|microtubule organizing center		g.chr6:109481812G>T	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.1054G>T	6.37:g.109481812G>T	ENSP00000427844:p.Glu352*					CEP57L1_ENST00000521522.1_Nonsense_Mutation_p.E299*|CEP57L1_ENST00000517392.1_Nonsense_Mutation_p.E352*|CEP57L1_ENST00000520883.1_Nonsense_Mutation_p.E252*|CEP57L1_ENST00000368970.2_Nonsense_Mutation_p.E369*|CEP57L1_ENST00000359793.3_Nonsense_Mutation_p.E352*|CEP57L1_ENST00000523787.1_Nonsense_Mutation_p.E355*|CEP57L1_ENST00000368968.2_Nonsense_Mutation_p.E352*|CEP57L1_ENST00000336977.4_Nonsense_Mutation_p.E252*	p.E352*	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN			12	1631	+			352					G5E992	Nonsense_Mutation	SNP	ENST00000517392.1	37	c.1054G>T	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895493	0.52121	.	.	ENSG00000183137	ENST00000517392;ENST00000407272;ENST00000336977;ENST00000521522;ENST00000368968;ENST00000368970;ENST00000520883;ENST00000523787;ENST00000359793;ENST00000523174	.	.	.	4.99	0.311	0.15831	.	1.537720	0.03250	N	0.181720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-2.3484	8.0751	0.30712	0.2127:0.5626:0.2248:0.0	.	.	.	.	X	352;352;252;299;352;369;252;355;352;133	.	ENSP00000337392:E252X	E	+	1	0	CEP57L1	109588505	0.006000	0.16342	0.190000	0.23270	0.869000	0.49853	-0.102000	0.10956	0.213000	0.20722	0.650000	0.86243	GAA		0.328	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		8	65	1	0	5.18039e-06	1	5.78477e-06	8	65				
IGHMBP2	3508	broad.mit.edu	37	11	68703725	68703725	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr11:68703725G>A	ENST00000255078.3	+	13	1888	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	593					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTTCTTGCTGAGGACCGGAG	0.532																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1777-1779)Gag>Aag		immunoglobulin mu binding protein 2							132.0	126.0	128.0					11																	68703725		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68703725G>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1777G>A	11.37:g.68703725G>A	ENSP00000255078:p.Glu593Lys					IGHMBP2_ENST00000541229.1_3'UTR	p.E593K	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		13	1888	+			593					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.1777G>A	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437191	0.96168	.	.	ENSG00000132740	ENST00000255078	D	0.92595	-3.07	4.25	4.25	0.50352	.	0.113928	0.64402	D	0.000017	D	0.95389	0.8503	M	0.74389	2.26	0.80722	D	1	D	0.64830	0.994	D	0.69479	0.964	D	0.95853	0.8876	10	0.72032	D	0.01	-11.1963	15.926	0.79618	0.0:0.0:1.0:0.0	.	593	P38935	SMBP2_HUMAN	K	593	ENSP00000255078:E593K	ENSP00000255078:E593K	E	+	1	0	IGHMBP2	68460301	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	8.953000	0.93041	2.360000	0.80028	0.561000	0.74099	GAG		0.532	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		11	136	0	0	0	1	0	11	136				
BRPF3	27154	broad.mit.edu	37	6	36175192	36175192	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:36175192C>T	ENST00000357641.6	+	4	1961	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	BRPF3_ENST00000534400.1_Missense_Mutation_p.R570W|BRPF3_ENST00000534694.1_Missense_Mutation_p.R570W|BRPF3_ENST00000543502.1_Missense_Mutation_p.R570W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R570W|BRPF3_ENST00000443324.2_Missense_Mutation_p.R570W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	570					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGAGCTGATTCGGAAGAGAGA	0.547																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(1708-1710)Cgg>Tgg		bromodomain and PHD finger containing, 3							50.0	47.0	48.0					6																	36175192		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36175192C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1708C>T	6.37:g.36175192C>T	ENSP00000350267:p.Arg570Trp					BRPF3_ENST00000534400.1_Missense_Mutation_p.R570W|BRPF3_ENST00000534694.1_Missense_Mutation_p.R570W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R570W|BRPF3_ENST00000543502.1_Missense_Mutation_p.R570W|BRPF3_ENST00000443324.2_Missense_Mutation_p.R570W	p.R570W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			4	1961	+			570					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.1708C>T	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178685	0.78564	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T	0.21361	2.24;2.27;2.26;2.27;2.26;2.01	4.86	4.86	0.63082	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	M	0.74546	2.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.43972	-0.9358	10	0.87932	D	0	.	18.3462	0.90322	0.0:1.0:0.0:0.0	.	570;570;570	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	W	570	ENSP00000350267:R570W;ENSP00000345419:R570W;ENSP00000434501:R570W;ENSP00000445352:R570W;ENSP00000387368:R570W;ENSP00000436504:R570W	ENSP00000345419:R570W	R	+	1	2	BRPF3	36283170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.409000	0.81822	0.655000	0.94253	CGG		0.547	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		5	27	0	0	0	1	0	5	27				
TAGAP	117289	broad.mit.edu	37	6	159457885	159457885	+	Silent	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:159457885G>A	ENST00000367066.3	-	10	1501	c.1170C>T	c.(1168-1170)agC>agT	p.S390S	TAGAP_ENST00000326965.6_Silent_p.S212S|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	390					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGTCACCCGGCTCTCGAGGC	0.582																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(1168-1170)agC>agT		T-cell activation RhoGTPase activating protein							47.0	49.0	48.0					6																	159457885		2203	4300	6503	SO:0001819	synonymous_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457885G>A	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1170C>T	6.37:g.159457885G>A						RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Silent_p.S212S|RP1-111C20.4_ENST00000606466.1_RNA	p.S390S	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	1501	-		Breast(66;0.000776)|Ovarian(120;0.0303)	390					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	c.1170C>T	CCDS5261.1																																																																																				0.582	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		4	50	0	0	0	1	0	4	50				
SMR3B	10879	broad.mit.edu	37	4	71255552	71255552	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr4:71255552C>A	ENST00000304915.3	+	3	376	c.227C>A	c.(226-228)cCt>cAt	p.P76H	SMR3B_ENST00000504825.1_Missense_Mutation_p.P76H	NM_006685.3	NP_006676.1	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3B	76	Poly-Pro.|Pro-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				CCACCACCCCCTCCTCAACCC	0.582																																						ENST00000304915.3																			0				large_intestine(2)|lung(3)|skin(2)	7						c.(226-228)cCt>cAt		submaxillary gland androgen regulated protein 3B							117.0	109.0	111.0					4																	71255552		2203	4300	6503	SO:0001583	missense	10879							g.chr4:71255552C>A	D29833	CCDS3540.1	4q13.3	2008-02-27	2008-02-27	2005-02-07	ENSG00000171201	ENSG00000171201			17326	protein-coding gene	gene with protein product		611593	"""proline rich 3"", ""submaxillary gland androgen regulated protein 3 homolog B (mouse)"""	PROL3		7982889, 479131	Standard	NM_006685		Approved	P-B, PRL3		P02814	OTTHUMG00000129396	ENST00000304915.3:c.227C>A	4.37:g.71255552C>A	ENSP00000302400:p.Pro76His					SMR3B_ENST00000504825.1_Missense_Mutation_p.P76H	p.P76H	NM_006685.3	NP_006676.1					3	376	+		all_hematologic(202;0.196)						B7ZMG7|Q9UBN0|Q9UCT0	Missense_Mutation	SNP	ENST00000304915.3	37	c.227C>A	CCDS3540.1	.	.	.	.	.	.	.	.	.	.	C	1.467	-0.560922	0.03939	.	.	ENSG00000171201	ENST00000504825;ENST00000304915	T;T	0.34667	1.35;1.35	1.46	-0.674	0.11369	.	.	.	.	.	T	0.20941	0.0504	.	.	.	0.09310	N	1	B	0.31383	0.321	B	0.23018	0.043	T	0.17623	-1.0363	8	0.87932	D	0	.	3.2523	0.06819	0.2949:0.4136:0.2915:0.0	.	76	P02814	SMR3B_HUMAN	H	76	ENSP00000423138:P76H;ENSP00000302400:P76H	ENSP00000302400:P76H	P	+	2	0	SMR3B	71290141	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.259000	0.08721	-0.222000	0.09958	0.205000	0.17691	CCT		0.582	SMR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251552.2	NM_006685		7	70	1	0	8.12818e-05	1	8.92768e-05	7	70				
CCDC171	203238	broad.mit.edu	37	9	15920328	15920328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr9:15920328G>A	ENST00000380701.3	+	25	3989	c.3661G>A	c.(3661-3663)Gag>Aag	p.E1221K	CCDC171_ENST00000486641.2_3'UTR	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1221																	CATGACATTAGAGAAGGAAAT	0.338																																						ENST00000380701.3																			0											c.(3661-3663)Gag>Aag		coiled-coil domain containing 171							118.0	102.0	107.0					9																	15920328		2203	4299	6502	SO:0001583	missense	203238							g.chr9:15920328G>A	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3661G>A	9.37:g.15920328G>A	ENSP00000370077:p.Glu1221Lys					CCDC171_ENST00000486641.2_3'UTR	p.E1221K	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			25	3989	+			1221					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.3661G>A	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222329	0.79464	.	.	ENSG00000164989	ENST00000380701;ENST00000359391	T	0.25912	1.77	5.57	5.57	0.84162	.	0.136003	0.46758	D	0.000262	T	0.33904	0.0879	L	0.29908	0.895	0.80722	D	1	D;P	0.56035	0.974;0.936	P;P	0.53861	0.736;0.654	T	0.05402	-1.0887	10	0.87932	D	0	-10.4087	17.7396	0.88404	0.0:0.0:1.0:0.0	.	1229;1221	B7ZM22;Q6TFL3	.;CI093_HUMAN	K	1221;75	ENSP00000370077:E1221K	ENSP00000352352:E75K	E	+	1	0	C9orf93	15910328	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.477000	0.53151	2.626000	0.88956	0.557000	0.71058	GAG		0.338	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		6	47	0	0	0	1	0	6	47				
PRRC2A	7916	broad.mit.edu	37	6	31598918	31598918	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:31598918G>A	ENST00000376033.2	+	16	2702	c.2468G>A	c.(2467-2469)aGc>aAc	p.S823N	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S823N	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	823	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTCTTCAGGAGCGAGACTCCT	0.488																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(2467-2469)aGc>aAc		proline-rich coiled-coil 2A							93.0	107.0	102.0					6																	31598918		1509	2709	4218	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31598918G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2468G>A	6.37:g.31598918G>A	ENSP00000365201:p.Ser823Asn					PRRC2A_ENST00000376007.4_Missense_Mutation_p.S823N	p.S823N	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	2702	+			823			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.2468G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	9.876	1.200270	0.22121	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.02050	4.48;4.48	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000003	T	0.02455	0.0075	L	0.29908	0.895	0.47153	D	0.999334	D	0.58268	0.982	P	0.55545	0.778	T	0.57370	-0.7823	10	0.87932	D	0	-10.2851	12.4531	0.55688	0.0:0.0:0.8323:0.1677	.	823	P48634	PRC2A_HUMAN	N	823;812;823;823;48	ENSP00000365175:S823N;ENSP00000365201:S823N	ENSP00000365175:S823N	S	+	2	0	PRRC2A	31706897	1.000000	0.71417	0.977000	0.42913	0.982000	0.71751	4.614000	0.61183	2.653000	0.90120	0.561000	0.74099	AGC		0.488	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	69	0	0	0	1	0	8	69				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; 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; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	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						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; 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; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	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	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			5	51	0	0	0	1	0	5	51				
OR1F2P	26184	broad.mit.edu	37	16	3266071	3266071	+	RNA	SNP	A	A	G	rs2550401	byFrequency	TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr16:3266071A>G	ENST00000576468.1	+	0	418																											GCCAACTCGAATGCTCTGCTG	0.562													a|||	2231	0.445487	0.3313	0.5576	5008	,	,		22310	0.5149		0.4553	False		,,,				2504	0.4387					ENST00000576468.1																			0																																																			26184							g.chr16:3266071A>G																													16.37:g.3266071A>G														0	418	+									RNA	SNP	ENST00000576468.1	37																																																																																						0.562	AJ003147.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000437543.1			4	42	0	0	0	1	0	4	42				
CCDC129	223075	broad.mit.edu	37	7	31683457	31683457	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:31683457G>A	ENST00000407970.3	+	11	2511	c.2473G>A	c.(2473-2475)Gaa>Aaa	p.E825K	CCDC129_ENST00000409210.1_Missense_Mutation_p.E733K|CCDC129_ENST00000451887.2_Missense_Mutation_p.E851K|CCDC129_ENST00000319386.3_Missense_Mutation_p.E677K	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	825	Cys-rich.									cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCCTGGCCCTGAACCCTCAGT	0.567																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(2029-2031)Gaa>Aaa		coiled-coil domain containing 129							81.0	76.0	78.0					7																	31683457		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31683457G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2473G>A	7.37:g.31683457G>A	ENSP00000384416:p.Glu825Lys					CCDC129_ENST00000407970.3_Missense_Mutation_p.E825K|CCDC129_ENST00000451887.2_Missense_Mutation_p.E851K|CCDC129_ENST00000409210.1_Missense_Mutation_p.E733K	p.E677K			Q6ZRS4	CC129_HUMAN			11	3022	+			825					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2029G>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480548	0.26598	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.69	2.92	0.33932	.	0.954220	0.08655	N	0.913305	T	0.22044	0.0531	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.26547	0.137;0.152;0.152;0.152	B;B;B;B	0.21917	0.037;0.037;0.037;0.037	T	0.30966	-0.9960	10	0.19590	T	0.45	0.6341	7.8641	0.29526	0.2564:0.0:0.7436:0.0	.	851;835;825;677	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	K	677;825;851;835;733	ENSP00000313062:E677K;ENSP00000384416:E825K;ENSP00000395835:E851K;ENSP00000387214:E733K	ENSP00000313062:E677K	E	+	1	0	CCDC129	31649982	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.384000	0.20668	0.333000	0.23563	0.655000	0.94253	GAA		0.567	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		6	69	0	0	0	1	0	6	69				
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral component of membrane (GO:0016021)		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682																																						ENST00000354323.2																			1	Substitution - Missense(1)	p.H92P(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(274-276)cAc>cCc		histidine rich carboxyl terminus 1							24.0	19.0	20.0					9																	35906559		2189	4276	6465	SO:0001583	missense	646962					integral to membrane		g.chr9:35906559A>C		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.275A>C	9.37:g.35906559A>C	ENSP00000346283:p.His92Pro						p.H92P	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	371	+			92			His-rich.		B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	c.275A>C	CCDS35012.1	.	.	.	.	.	.	.	.	.	.	A	6.244	0.413193	0.11812	.	.	ENSG00000196196	ENST00000354323	.	.	.	2.44	-4.88	0.03113	.	2.969780	0.02194	N	0.061627	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12682	-1.0538	9	0.87932	D	0	-35.0854	0.2739	0.00235	0.2845:0.1811:0.2905:0.2438	.	92	Q6UXD1	HRCT1_HUMAN	P	92	.	ENSP00000346283:H92P	H	+	2	0	HRCT1	35896559	0.200000	0.23398	0.000000	0.03702	0.183000	0.23260	0.845000	0.27668	-1.085000	0.03088	0.383000	0.25322	CAC		0.682	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		7	13	0	0	0	1	0	7	13				
PCDH9	5101	broad.mit.edu	37	13	67801363	67801363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr13:67801363C>T	ENST00000377865.2	-	1	1344	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	PCDH9_ENST00000328454.5_Missense_Mutation_p.E404K|PCDH9_ENST00000377861.3_Missense_Mutation_p.E404K|PCDH9_ENST00000544246.1_Missense_Mutation_p.E404K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E404K			Q9HC56	PCDH9_HUMAN	protocadherin 9	404	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCTCTCTTTCAATAAAACAG	0.378																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1210-1212)Gaa>Aaa		protocadherin 9							91.0	88.0	89.0					13																	67801363		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801363C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1210G>A	13.37:g.67801363C>T	ENSP00000367096:p.Glu404Lys					PCDH9_ENST00000377861.3_Missense_Mutation_p.E404K|PCDH9_ENST00000377865.2_Missense_Mutation_p.E404K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E404K|PCDH9_ENST00000328454.5_Missense_Mutation_p.E404K	p.E404K	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1901	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	404			Cadherin 4.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1210G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664327	0.47572	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	N	0.17901	0.54	0.80722	D	1	P;P;P;D	0.56035	0.949;0.949;0.936;0.974	P;P;P;P	0.58620	0.842;0.696;0.57;0.696	T	0.20140	-1.0284	10	0.07030	T	0.85	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	404;404;404;404	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	K	404	ENSP00000442186:E404K;ENSP00000367096:E404K;ENSP00000401699:E404K;ENSP00000332060:E404K;ENSP00000367092:E404K	ENSP00000332060:E404K	E	-	1	0	PCDH9	66699364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.920000	0.70017	2.941000	0.99782	0.655000	0.94253	GAA		0.378	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		7	103	0	0	0	1	0	7	103				
SIM1	6492	broad.mit.edu	37	6	100868694	100868694	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:100868694G>A	ENST00000369208.3	-	10	1921	c.1139C>T	c.(1138-1140)tCa>tTa	p.S380L	SIM1_ENST00000262901.4_Missense_Mutation_p.S380L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	380	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCTGGATTTTGACTTTGAGCT	0.478																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1138-1140)tCa>tTa		single-minded family bHLH transcription factor 1							113.0	109.0	110.0					6																	100868694		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100868694G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1139C>T	6.37:g.100868694G>A	ENSP00000358210:p.Ser380Leu					SIM1_ENST00000262901.4_Missense_Mutation_p.S380L	p.S380L			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	1921	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	380			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1139C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294213	0.81025	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.36340	1.26;1.26	5.81	5.81	0.92471	Single-minded, C-terminal (2);	0.448691	0.24848	N	0.035115	T	0.18923	0.0454	N	0.19112	0.55	0.58432	D	0.999993	B	0.24132	0.098	B	0.30105	0.111	T	0.04522	-1.0945	10	0.37606	T	0.19	.	20.0762	0.97745	0.0:0.0:1.0:0.0	.	380	P81133	SIM1_HUMAN	L	380	ENSP00000358210:S380L;ENSP00000262901:S380L	ENSP00000262901:S380L	S	-	2	0	SIM1	100975415	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.261000	0.95576	2.756000	0.94617	0.655000	0.94253	TCA		0.478	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		4	43	0	0	0	1	0	4	43				
MCM2	4171	broad.mit.edu	37	3	127335797	127335797	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr3:127335797G>A	ENST00000265056.7	+	10	1853	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	537	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CAAGTATATTGAGAAAGTGTC	0.597																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1609-1611)Gag>Aag		minichromosome maintenance complex component 2							69.0	73.0	71.0					3																	127335797		2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127335797G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1609G>A	3.37:g.127335797G>A	ENSP00000265056:p.Glu537Lys						p.E537K	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			10	1853	+			537			MCM.		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.1609G>A	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	36	5.843278	0.97016	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.11063	2.81	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	M	0.87456	2.885	0.80722	D	1	D;D;D	0.62365	0.989;0.981;0.991	P;D;D	0.70227	0.886;0.941;0.968	T	0.40961	-0.9535	10	0.87932	D	0	-42.6044	19.8362	0.96658	0.0:0.0:1.0:0.0	.	587;407;537	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	K	537;441;587	ENSP00000265056:E537K	ENSP00000265056:E537K	E	+	1	0	MCM2	128818487	1.000000	0.71417	0.930000	0.37139	0.947000	0.59692	9.705000	0.98719	2.684000	0.91462	0.585000	0.79938	GAG		0.597	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			8	105	0	0	0	1	0	8	105				
ZNF536	9745	broad.mit.edu	37	19	30935293	30935293	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr19:30935293G>A	ENST00000355537.3	+	2	971	c.824G>A	c.(823-825)cGc>cAc	p.R275H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	275					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGGGCTTCCGCTGTACCTTC	0.667																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(823-825)cGc>cAc		zinc finger protein 536							14.0	17.0	16.0					19																	30935293		2199	4289	6488	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935293G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.824G>A	19.37:g.30935293G>A	ENSP00000347730:p.Arg275His						p.R275H	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	971	+	Esophageal squamous(110;0.0834)		275					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.824G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804131	0.50315	.	.	ENSG00000198597	ENST00000355537	T	0.28666	1.6	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	L	0.33137	0.985	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.44605	-0.9317	10	0.66056	D	0.02	-37.4542	19.8172	0.96573	0.0:0.0:1.0:0.0	.	275;275	A7E228;O15090	.;ZN536_HUMAN	H	275	ENSP00000347730:R275H	ENSP00000347730:R275H	R	+	2	0	ZNF536	35627133	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.828000	0.86729	2.702000	0.92279	0.491000	0.48974	CGC		0.667	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		3	28	0	0	0	1	0	3	28				
SEMA3E	9723	broad.mit.edu	37	7	82997162	82997162	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:82997162T>A	ENST00000307792.3	-	17	2535	c.2068A>T	c.(2068-2070)Agg>Tgg	p.R690W	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R630W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	690					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTGTGATGCCTGTCCTCCTCA	0.478																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(2068-2070)Agg>Tgg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							147.0	124.0	132.0					7																	82997162		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82997162T>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2068A>T	7.37:g.82997162T>A	ENSP00000303212:p.Arg690Trp					SEMA3E_ENST00000427262.1_Missense_Mutation_p.R630W	p.R690W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			17	2535	-		Medulloblastoma(109;0.109)	690					B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.2068A>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	T	9.106	1.005426	0.19199	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.32272	1.52;1.46	5.74	-0.335	0.12662	.	4.579910	0.00166	N	0.000002	T	0.22205	0.0535	N	0.08118	0	0.09310	N	1	B	0.25235	0.121	B	0.35278	0.199	T	0.39272	-0.9622	10	0.66056	D	0.02	.	7.2286	0.26030	0.0:0.3524:0.1205:0.5271	.	690	O15041	SEM3E_HUMAN	W	690;630;690	ENSP00000303212:R690W;ENSP00000405052:R630W	ENSP00000303212:R690W	R	-	1	2	SEMA3E	82835098	0.000000	0.05858	0.001000	0.08648	0.072000	0.16883	0.030000	0.13688	-0.129000	0.11620	-0.472000	0.04984	AGG		0.478	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		6	80	0	0	0	1	0	6	80				
TAS2R60	338398	broad.mit.edu	37	7	143140947	143140947	+	Silent	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:143140947G>A	ENST00000332690.1	+	1	402	c.402G>A	c.(400-402)aaG>aaA	p.K134K	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	134					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTGGCTAAAGCACAAGTTGT	0.478																																						ENST00000332690.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31						c.(400-402)aaG>aaA		taste receptor, type 2, member 60							180.0	170.0	173.0					7																	143140947		2203	4300	6503	SO:0001819	synonymous_variant	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140947G>A	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.402G>A	7.37:g.143140947G>A						EPHA1-AS1_ENST00000429289.1_RNA	p.K134K	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN			1	402	+	Melanoma(164;0.172)		134					A4D2G8|Q645W8|Q7RTR7	Silent	SNP	ENST00000332690.1	37	c.402G>A	CCDS5885.1																																																																																				0.478	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			11	161	0	0	0	1	0	11	161				
TTN	7273	broad.mit.edu	37	2	179635016	179635016	+	Silent	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr2:179635016C>G	ENST00000591111.1	-	36	8636	c.8412G>C	c.(8410-8412)gtG>gtC	p.V2804V	TTN_ENST00000589042.1_Silent_p.V2804V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.V2804V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Silent_p.V2804V|TTN_ENST00000460472.2_Silent_p.V2758V|TTN_ENST00000359218.5_Silent_p.V2758V|TTN_ENST00000342175.6_Silent_p.V2758V			Q8WZ42	TITIN_HUMAN	titin	13132					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAGGCTGTCACATCCTTTG	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(8410-8412)gtG>gtC		titin							119.0	115.0	116.0					2																	179635016		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179635016C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8412G>C	2.37:g.179635016C>G						TTN_ENST00000360870.5_Silent_p.V2804V|TTN_ENST00000591111.1_Silent_p.V2804V|TTN_ENST00000460472.2_Silent_p.V2758V|TTN_ENST00000359218.5_Silent_p.V2758V|TTN_ENST00000342175.6_Silent_p.V2758V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V2804V	p.V2804V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		36	8636	-			2542					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.8412G>C																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	99	0	0	0	1	0	6	99				
ATP11C	286410	broad.mit.edu	37	X	138869398	138869398	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chrX:138869398C>A	ENST00000327569.3	-	15	1633	c.1535G>T	c.(1534-1536)gGg>gTg	p.G512V	ATP11C_ENST00000361648.2_Missense_Mutation_p.G512V|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Missense_Mutation_p.G509V|ATP11C_ENST00000370543.1_Missense_Mutation_p.G512V|ATP11C_ENST00000359686.2_Missense_Mutation_p.G512V	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	512					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAATGTGAACCCGTACCTATC	0.308																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(1525-1527)gGg>gTg		ATPase, class VI, type 11C							102.0	84.0	90.0					X																	138869398		2201	4299	6500	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138869398C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1535G>T	X.37:g.138869398C>A	ENSP00000332756:p.Gly512Val					ATP11C_ENST00000359686.2_Missense_Mutation_p.G512V|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.G512V|ATP11C_ENST00000370543.1_Missense_Mutation_p.G512V|ATP11C_ENST00000327569.3_Missense_Mutation_p.G512V	p.G509V			Q8NB49	AT11C_HUMAN			15	2553	-	Acute lymphoblastic leukemia(192;0.000127)		512					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1526G>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361695	0.82353	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	5.76	5.76	0.90799	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.91693	0.7374	H	0.99435	4.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95284	0.8389	10	0.87932	D	0	.	17.7989	0.88580	0.0:1.0:0.0:0.0	.	512;512	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	V	509;512;512;512;512	ENSP00000359588:G509V;ENSP00000355165:G512V;ENSP00000332756:G512V;ENSP00000359574:G512V;ENSP00000352715:G512V	ENSP00000332756:G512V	G	-	2	0	ATP11C	138697064	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.571000	0.74000	2.422000	0.82143	0.594000	0.82650	GGG		0.308	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		4	38	1	0	0.00024832	1	0.000264086	4	38				
COL27A1	85301	broad.mit.edu	37	9	117014887	117014887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr9:117014887G>A	ENST00000356083.3	+	26	3439	c.3048G>A	c.(3046-3048)atG>atA	p.M1016I		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1016	Collagen-like 7.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ATCGTGGCATGATGGGACCCC	0.612																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(3046-3048)atG>atA		collagen, type XXVII, alpha 1							152.0	138.0	143.0					9																	117014887		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117014887G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3048G>A	9.37:g.117014887G>A	ENSP00000348385:p.Met1016Ile						p.M1016I	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			26	3439	+			1016			Collagen-like 7.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3048G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545145	0.27652	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93076	-3.16	4.94	3.02	0.34903	.	.	.	.	.	D	0.83543	0.5277	N	0.10972	0.075	0.20403	N	0.999908	B	0.10296	0.003	B	0.12156	0.007	T	0.70550	-0.4841	9	0.37606	T	0.19	.	5.3291	0.15922	0.1014:0.0:0.6964:0.2022	.	1016	Q8IZC6	CORA1_HUMAN	I	1016	ENSP00000348385:M1016I	ENSP00000348385:M1016I	M	+	3	0	COL27A1	116054708	0.952000	0.32445	1.000000	0.80357	0.995000	0.86356	0.529000	0.23019	2.567000	0.86603	0.491000	0.48974	ATG		0.612	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		9	86	0	0	0	1	0	9	86				
CTBS	1486	broad.mit.edu	37	1	85029046	85029046	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:85029046G>T	ENST00000370630.5	-	6	899	c.851C>A	c.(850-852)gCt>gAt	p.A284D	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	284					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		ACGTCCTGCAGCGTCACTACA	0.408																																						ENST00000370630.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(850-852)gCt>gAt		chitobiase, di-N-acetyl-							51.0	57.0	55.0					1																	85029046		2202	4300	6502	SO:0001583	missense	1486					lysosome	cation binding	g.chr1:85029046G>T	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.851C>A	1.37:g.85029046G>T	ENSP00000359664:p.Ala284Asp					CTBS_ENST00000477677.1_5'UTR	p.A284D	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	6	899	-			284					Q5VX50	Missense_Mutation	SNP	ENST00000370630.5	37	c.851C>A	CCDS698.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916734	0.73098	.	.	ENSG00000117151	ENST00000370630	T	0.05649	3.41	5.5	2.61	0.31194	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.048932	0.85682	D	0.000000	T	0.12732	0.0309	M	0.87180	2.865	0.53688	D	0.999971	D	0.60575	0.988	D	0.67900	0.954	T	0.02713	-1.1120	10	0.31617	T	0.26	-10.3573	8.7483	0.34600	0.1362:0.1249:0.739:0.0	.	284	Q01459	DIAC_HUMAN	D	284	ENSP00000359664:A284D	ENSP00000359659:A193D	A	-	2	0	CTBS	84801634	1.000000	0.71417	0.003000	0.11579	0.796000	0.44982	4.873000	0.63057	0.299000	0.22661	0.650000	0.86243	GCT		0.408	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		4	38	1	0	0.00024832	1	0.000264086	4	38				
POU4F1	5457	broad.mit.edu	37	13	79175606	79175606	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr13:79175606A>C	ENST00000377208.5	-	2	1415	c.1204T>G	c.(1204-1206)Tgg>Ggg	p.W402G	RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606376.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	402					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTGCAAAACCACACCCGCACC	0.607																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(1204-1206)Tgg>Ggg		POU class 4 homeobox 1							92.0	89.0	90.0					13																	79175606		2203	4300	6503	SO:0001583	missense	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79175606A>C	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1204T>G	13.37:g.79175606A>C	ENSP00000366413:p.Trp402Gly					RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA	p.W402G	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	1415	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	402					Q14986|Q15318|Q5T227	Missense_Mutation	SNP	ENST00000377208.5	37	c.1204T>G	CCDS31996.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.945312	0.53079	.	.	ENSG00000152192	ENST00000377208	D	0.99751	-6.63	4.35	4.35	0.52113	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.99857	0.9933	H	0.97707	4.06	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96527	0.9390	10	0.87932	D	0	.	13.5472	0.61711	1.0:0.0:0.0:0.0	.	402	Q01851	PO4F1_HUMAN	G	402	ENSP00000366413:W402G	ENSP00000366413:W402G	W	-	1	0	POU4F1	78073607	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.109000	0.94291	1.752000	0.51891	0.408000	0.27601	TGG		0.607	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			5	71	0	0	0	1	0	5	71				
CASKIN2	57513	broad.mit.edu	37	17	73499573	73499573	+	Silent	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr17:73499573C>T	ENST00000321617.3	-	17	2302	c.1716G>A	c.(1714-1716)ctG>ctA	p.L572L	CASKIN2_ENST00000433559.2_Silent_p.L490L	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	572	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGTACTGTGGCAGCCCCAGTG	0.637																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1714-1716)ctG>ctA		CASK interacting protein 2							33.0	31.0	32.0					17																	73499573		2200	4291	6491	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73499573C>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1716G>A	17.37:g.73499573C>T						CASKIN2_ENST00000433559.2_Silent_p.L490L	p.L572L	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		17	2302	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		572			SAM 2.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.1716G>A	CCDS11723.1																																																																																				0.637	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		4	59	0	0	0	1	0	4	59				
PRIMPOL	201973	broad.mit.edu	37	4	185593362	185593362	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr4:185593362G>C	ENST00000314970.6	+	7	1025	c.592G>C	c.(592-594)Gac>Cac	p.D198H	PRIMPOL_ENST00000515774.1_Missense_Mutation_p.D69H|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.D198H|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.D198H	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	198					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										GCCTGCTCTTGACTTGCTTGG	0.423																																						ENST00000314970.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16						c.(592-594)Gac>Cac									88.0	97.0	94.0					4																	185593362		2203	4300	6503	SO:0001583	missense	201973				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185593362G>C	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.592G>C	4.37:g.185593362G>C	ENSP00000313816:p.Asp198His					CCDC111_ENST00000515774.1_Missense_Mutation_p.D69H|CCDC111_ENST00000512834.1_Missense_Mutation_p.D198H|CCDC111_ENST00000503752.1_Missense_Mutation_p.D198H	p.D198H	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	7	1025	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	198					D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	c.592G>C	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	G	1.267	-0.614077	0.03690	.	.	ENSG00000164306	ENST00000314970;ENST00000515774;ENST00000503752;ENST00000512834	T;T;T;T	0.44482	0.92;1.57;0.92;0.92	5.39	1.37	0.22104	.	1.480480	0.03549	N	0.225186	T	0.19046	0.0457	N	0.01128	-1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.19095	-1.0316	10	0.38643	T	0.18	0.2768	9.6312	0.39780	0.2234:0.3734:0.4032:0.0	.	69;198;198	D3DP56;Q96LW4;D6RDM1	.;CC111_HUMAN;.	H	198;69;198;198	ENSP00000313816:D198H;ENSP00000421913:D69H;ENSP00000420860:D198H;ENSP00000425316:D198H	ENSP00000313816:D198H	D	+	1	0	CCDC111	185830356	0.000000	0.05858	0.007000	0.13788	0.045000	0.14185	-0.439000	0.06897	0.332000	0.23536	-0.321000	0.08615	GAC		0.423	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		5	90	0	0	0	1	0	5	90				
TTN	7273	broad.mit.edu	37	2	179638098	179638098	+	Splice_Site	SNP	T	T	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr2:179638098T>C	ENST00000591111.1	-	33	7819		c.e33-2		TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342175.6_Splice_Site			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTAATTTCTGGGGAAAAAA	0.348																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.e33-2		titin							36.0	39.0	38.0					2																	179638098		2198	4295	6493	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179638098T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7595-2A>G	2.37:g.179638098T>C						TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site		NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		33	7819	-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	T	18.44	3.624867	0.66901	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1966	0.82029	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179346343	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	8.005000	0.88553	2.232000	0.73038	0.528000	0.53228	.		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	6	39	0	0	0	1	0	6	39				
MXRA5	25878	broad.mit.edu	37	X	3241208	3241208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chrX:3241208C>A	ENST00000217939.6	-	5	2672	c.2518G>T	c.(2518-2520)Gaa>Taa	p.E840*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	840						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGAGGATTCTTCAGCACTG	0.488																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(2518-2520)Gaa>Taa		matrix-remodelling associated 5							112.0	106.0	108.0					X																	3241208		2203	4300	6503	SO:0001587	stop_gained	25878					extracellular region		g.chrX:3241208C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2518G>T	X.37:g.3241208C>A	ENSP00000217939:p.Glu840*						p.E840*	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	2672	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	840					Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	ENST00000217939.6	37	c.2518G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	38	7.079016	0.98048	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.63	3.63	0.41609	.	0.174174	0.26769	U	0.022599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.1378	0.72583	0.0:1.0:0.0:0.0	.	.	.	.	X	840	.	ENSP00000217939:E840X	E	-	1	0	MXRA5	3251208	0.714000	0.27936	0.002000	0.10522	0.016000	0.09150	4.215000	0.58534	1.446000	0.47643	0.529000	0.55759	GAA		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		7	68	1	0	2.0095e-06	1	2.28197e-06	7	68				
XYLT1	64131	broad.mit.edu	37	16	17211720	17211720	+	Silent	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr16:17211720C>T	ENST00000261381.6	-	11	2424	c.2340G>A	c.(2338-2340)gtG>gtA	p.V780V		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	780					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAATGACGGTCACGGTCACAT	0.552																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2338-2340)gtG>gtA		xylosyltransferase I							185.0	151.0	163.0					16																	17211720		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17211720C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2340G>A	16.37:g.17211720C>T							p.V780V	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			11	2424	-			780					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.2340G>A	CCDS10569.1																																																																																				0.552	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		4	65	0	0	0	1	0	4	65				
COL19A1	1310	broad.mit.edu	37	6	70637839	70637839	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:70637839T>C	ENST00000322773.4	+	5	407	c.305T>C	c.(304-306)gTa>gCa	p.V102A		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	102	Laminin G-like.				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)			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						GAGTACTCAGTAGCTGCCATG	0.418																																						ENST00000322773.4																			0				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						c.(304-306)gTa>gCa		collagen, type XIX, alpha 1							129.0	129.0	129.0					6																	70637839		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70637839T>C		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.305T>C	6.37:g.70637839T>C	ENSP00000316030:p.Val102Ala						p.V102A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			5	407	+			102			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.305T>C	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	T	8.984	0.976107	0.18736	.	.	ENSG00000082293	ENST00000322773	T	0.15718	2.4	5.71	5.71	0.89125	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.602886	0.15112	N	0.279907	T	0.05135	0.0137	N	0.08118	0	0.80722	D	1	B	0.23377	0.084	B	0.19148	0.024	T	0.23511	-1.0186	10	0.59425	D	0.04	.	15.9886	0.80183	0.0:0.0:0.0:1.0	.	102	Q14993	COJA1_HUMAN	A	102	ENSP00000316030:V102A	ENSP00000316030:V102A	V	+	2	0	COL19A1	70694560	0.980000	0.34600	0.006000	0.13384	0.060000	0.15804	7.500000	0.81588	2.173000	0.68751	0.533000	0.62120	GTA		0.418	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			15	95	0	0	0	1	0	15	95				
RBM12B	389677	broad.mit.edu	37	8	94746334	94746335	+	Frame_Shift_Ins	INS	-	-	TG	rs199643296		TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr8:94746334_94746335insTG	ENST00000399300.2	-	3	2517_2518	c.2304_2305insCA	c.(2302-2307)ccagagfs	p.E769fs	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Frame_Shift_Ins_p.E649fs	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	769							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTGAAATGCTCTGGGGGTGGCC	0.673																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(2302-2307)ccagcafs		RNA binding motif protein 12B																																				SO:0001589	frameshift_variant	389677						nucleotide binding|RNA binding	g.chr8:94746334_94746335insTG		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2303_2304dupCA	8.37:g.94746335_94746336dupTG	ENSP00000382239:p.Glu769fs					RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Frame_Shift_Ins_p.A649fs	p.A769fs	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2517_2518	-	Breast(36;4.14e-07)		769					A8MYB5	Frame_Shift_Ins	INS	ENST00000399300.2	37	c.2304_2305insCA	CCDS43755.1																																																																																				0.673	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		13	81						13	81	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	230	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(688-693)aag>aa		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546320_11546322delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.690_692delCAA	12.37:g.11546323_11546325delTTG	ENSP00000374013:p.Asn230del					PRB1_ENST00000546254.1_Intron	p.NK230del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	725_727	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.690_692delCAA	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	346						7	346	---	---	---	---
MBD6	114785	broad.mit.edu	37	12	57919453	57919454	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:57919453_57919454insT	ENST00000355673.3	+	6	1058_1059	c.702_703insT	c.(703-705)tccfs	p.S235fs	MBD6_ENST00000431731.2_Frame_Shift_Ins_p.S235fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	235	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTGCCCTCAGATCCAGCCTGGT	0.619																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(700-705)agccagfs		methyl-CpG binding domain protein 6																																				SO:0001589	frameshift_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919453_57919454insT	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.703dupT	12.37:g.57919454_57919454dupT	ENSP00000347896:p.Ser235fs					MBD6_ENST00000431731.2_Frame_Shift_Ins_p.Q235fs	p.Q235fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	1058_1059	+			235			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Ins	INS	ENST00000355673.3	37	c.702_703insT	CCDS8944.1																																																																																				0.619	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			9	165						9	165	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:113704096_113704098delCTG	ENST00000335509.6	+	4	663_665	c.349_351delCTG	c.(349-351)ctgdel	p.L122del	TPCN1_ENST00000550785.1_In_Frame_Del_p.L194del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.64																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(565-567)del		two pore segment channel 1																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704096_113704098delCTG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.349_351delCTG	12.37:g.113704105_113704107delCTG	ENSP00000335300:p.Leu122del					TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del	p.L194del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			5	734_736	+			122					A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.565_567delCTG	CCDS31908.1																																																																																				0.640	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		11	339						11	339	---	---	---	---
COL20A1	57642	broad.mit.edu	37	20	61947987	61947987	+	Frame_Shift_Del	DEL	C	C	-	rs564790174		TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr20:61947987delC	ENST00000358894.6	+	21	2707	c.2607delC	c.(2605-2607)ttcfs	p.F869fs	COL20A1_ENST00000422202.1_Frame_Shift_Del_p.F876fs|COL20A1_ENST00000326996.6_Frame_Shift_Del_p.F869fs|COL20A1_ENST00000435874.1_Frame_Shift_Del_p.F876fs	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	869	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTCTGCCTTCGGTGGGACCC	0.647																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(2626-2628)ttfs		collagen, type XX, alpha 1							28.0	31.0	30.0					20																	61947987		2010	4143	6153	SO:0001589	frameshift_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61947987delC	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2607delC	20.37:g.61947987delC	ENSP00000351767:p.Phe869fs					COL20A1_ENST00000358894.6_Frame_Shift_Del_p.F869fs|COL20A1_ENST00000326996.6_Frame_Shift_Del_p.F869fs|COL20A1_ENST00000435874.1_Frame_Shift_Del_p.F876fs	p.F876fs			Q9P218	COKA1_HUMAN			20	2696	+	all_cancers(38;1.39e-10)		869			TSP N-terminal.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Frame_Shift_Del	DEL	ENST00000358894.6	37	c.2628delC	CCDS46628.1																																																																																				0.647	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		2	4						2	4	---	---	---	---
