#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
CEP152	22995	broad.mit.edu	37	15	49059645	49059645	+	Nonsense_Mutation	SNP	A	A	C	rs182018947	byFrequency	TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr15:49059645A>C	ENST00000380950.2	-	16	2221	c.2034T>G	c.(2032-2034)taT>taG	p.Y678*	CEP152_ENST00000559398.1_5'Flank|CEP152_ENST00000325747.5_Nonsense_Mutation_p.Y585*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Y678*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	678					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GGTGCTGCTGATAAGTCCTTT	0.458													a|||	3	0.000599042	0.0015	0.0	5008	,	,		18866	0.0		0.0	False		,,,				2504	0.001					ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(2032-2034)taT>taG		centrosomal protein 152kDa		G	stop/TYR,stop/TYR	7,3969		0,7,1981	133.0	127.0	129.0		2034,2034	0.0	1.0	15		129	2,8364		0,2,4181	yes	stop-gained,stop-gained	CEP152	NM_001194998.1,NM_014985.3	,	0,9,6162	CC,CA,AA		0.0239,0.1761,0.0729	,	678/1711,678/1655	49059645	9,12333	1988	4183	6171	SO:0001587	stop_gained	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49059645A>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2034T>G	15.37:g.49059645A>C	ENSP00000370337:p.Tyr678*					CEP152_ENST00000325747.5_Nonsense_Mutation_p.Y585*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Y678*	p.Y678*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	16	2221	-		all_lung(180;0.0428)	678					E7ER66|Q17RV1|Q6NTA0	Nonsense_Mutation	SNP	ENST00000380950.2	37	c.2034T>G	CCDS58361.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	a	39	7.802631	0.98498	0.001761	2.39E-4	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	.	.	.	5.66	0.03	0.14165	.	0.207502	0.42682	D	0.000680	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1793	12.2854	0.54789	0.3429:0.0:0.657:0.0	.	.	.	.	X	678;585;678	.	ENSP00000321000:Y585X	Y	-	3	2	CEP152	46846937	0.042000	0.20092	0.998000	0.56505	0.904000	0.53231	-1.025000	0.03600	0.091000	0.17302	-1.626000	0.00786	TAT		0.458	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		21	33	0	0	0	1	0	21	33				
SEPT2	4735	broad.mit.edu	37	2	242276830	242276830	+	Silent	SNP	A	A	G	rs369644369		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr2:242276830A>G	ENST00000391973.2	+	6	903	c.375A>G	c.(373-375)caA>caG	p.Q125Q	SEPT2_ENST00000402092.2_Silent_p.Q125Q|SEPT2_ENST00000401990.1_Silent_p.Q135Q|SEPT2_ENST00000407971.1_Silent_p.Q85Q|SEPT2_ENST00000360051.3_Silent_p.Q125Q|SEPT2_ENST00000391971.2_Silent_p.Q125Q	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	125	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TTGATGAGCAATTTGAGAGGT	0.398																																						ENST00000391973.2																			0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(373-375)caA>caG		septin 2		A	,,,	0,4406		0,0,2203	147.0	140.0	142.0		375,375,375,375	2.5	1.0	2		142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEPT2	NM_001008491.1,NM_001008492.1,NM_004404.3,NM_006155.1	,,,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,,,	125/362,125/362,125/362,125/362	242276830	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242276830A>G	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.375A>G	2.37:g.242276830A>G						SEPT2_ENST00000360051.3_Silent_p.Q125Q|SEPT2_ENST00000401990.1_Silent_p.Q135Q|SEPT2_ENST00000402092.2_Silent_p.Q125Q|SEPT2_ENST00000407971.1_Silent_p.Q85Q|SEPT2_ENST00000391971.2_Silent_p.Q125Q	p.Q125Q	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	6	903	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	125					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Silent	SNP	ENST00000391973.2	37	c.375A>G	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	A	8.870	0.949040	0.18356	0.0	1.16E-4	ENSG00000168385	ENST00000457874	.	.	.	5.28	2.48	0.30137	.	.	.	.	.	T	0.59959	0.2232	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57596	-0.7784	4	.	.	.	.	10.725	0.46064	0.2023:0.0:0.7977:0.0	.	.	.	.	S	97	.	.	N	+	2	0	SEPT2	241925503	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.163000	0.42377	1.245000	0.43885	-0.132000	0.14878	AAT		0.398	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		4	104	0	0	0	1	0	4	104				
ZNF99	7652	broad.mit.edu	37	19	22940380	22940380	+	Silent	SNP	T	T	C			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr19:22940380T>C	ENST00000596209.1	-	4	2421	c.2331A>G	c.(2329-2331)agA>agG	p.R777R	ZNF99_ENST00000397104.3_Silent_p.R686R|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	777					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTTTTCTAAGGGCTG	0.353																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2056-2058)agA>agG		zinc finger protein 99							32.0	33.0	33.0					19																	22940380		1938	4133	6071	SO:0001819	synonymous_variant	7652							g.chr19:22940380T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2331A>G	19.37:g.22940380T>C						ZNF99_ENST00000596209.1_Silent_p.R777R	p.R686R							5	2057	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.2058A>G	CCDS59369.1																																																																																				0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		3	23	0	0	0	1	0	3	23				
ZNF518B	85460	broad.mit.edu	37	4	10445820	10445820	+	Silent	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr4:10445820G>A	ENST00000326756.3	-	3	2571	c.2133C>T	c.(2131-2133)aaC>aaT	p.N711N		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	711					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.N711K(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGAGTGACACGTTGATTTCTT	0.443																																						ENST00000326756.3																			1	Substitution - Missense(1)	p.N711K(1)	endometrium(1)	breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2131-2133)aaC>aaT		zinc finger protein 518B							107.0	106.0	106.0					4																	10445820		2203	4300	6503	SO:0001819	synonymous_variant	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445820G>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2133C>T	4.37:g.10445820G>A							p.N711N	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	2571	-			711					Q96LN8	Silent	SNP	ENST00000326756.3	37	c.2133C>T	CCDS33960.1																																																																																				0.443	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		35	62	0	0	0	1	0	35	62				
OR56A3	390083	broad.mit.edu	37	11	5968953	5968953	+	Missense_Mutation	SNP	G	G	A	rs375483702		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:5968953G>A	ENST00000329564.6	+	1	384	c.377G>A	c.(376-378)cGt>cAt	p.R126H	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTATGATCGTTATGTAGCC	0.458																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(376-378)cGt>cAt		olfactory receptor, family 56, subfamily A, member 3							175.0	167.0	169.0					11																	5968953		2201	4296	6497	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968953G>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.377G>A	11.37:g.5968953G>A	ENSP00000331572:p.Arg126His						p.R126H	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	384	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	126					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.377G>A	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673542	0.29693	.	.	ENSG00000184478	ENST00000329564	T	0.77489	-1.1	5.13	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28119	U	0.016527	D	0.82632	0.5079	M	0.93150	3.385	0.38884	D	0.956973	B	0.31730	0.337	B	0.30572	0.117	D	0.85506	0.1194	10	0.66056	D	0.02	-10.7749	13.3558	0.60627	0.0775:0.0:0.9225:0.0	.	126	Q8NH54	O56A3_HUMAN	H	126	ENSP00000331572:R126H	ENSP00000331572:R126H	R	+	2	0	OR56A3	5925529	0.996000	0.38824	0.992000	0.48379	0.097000	0.18754	4.122000	0.57910	1.385000	0.46445	-0.201000	0.12746	CGT		0.458	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		8	160	0	0	0	1	0	8	160				
MUC17	140453	broad.mit.edu	37	7	100682353	100682353	+	Silent	SNP	C	C	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr7:100682353C>A	ENST00000306151.4	+	3	7720	c.7656C>A	c.(7654-7656)atC>atA	p.I2552I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2552	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACTGAAATCAGTTCATCTG	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7654-7656)atC>atA		mucin 17, cell surface associated							252.0	252.0	252.0					7																	100682353		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682353C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7656C>A	7.37:g.100682353C>A							p.I2552I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	7720	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2552			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7656C>A	CCDS34711.1																																																																																				0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		74	197	1	0	5.26073e-25	1	5.71818e-25	74	197				
PDLIM5	10611	broad.mit.edu	37	4	95508146	95508146	+	Intron	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr4:95508146G>A	ENST00000317968.4	+	7	1056				PDLIM5_ENST00000508216.1_Silent_p.K206K|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000380176.3_Intron|PDLIM5_ENST00000380180.3_Silent_p.K206K|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000538141.1_Silent_p.K186K|PDLIM5_ENST00000318007.5_Silent_p.K186K|PDLIM5_ENST00000450793.1_Silent_p.K206K	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5						regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ACAGGGAAAAGATACCCCTTC	0.363																																						ENST00000380180.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(616-618)aaG>aaA		PDZ and LIM domain 5							57.0	52.0	54.0					4																	95508146		1836	4088	5924	SO:0001627	intron_variant	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95508146G>A	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.920+551G>A	4.37:g.95508146G>A						PDLIM5_ENST00000508216.1_Silent_p.K206K|PDLIM5_ENST00000317968.4_Intron|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000450793.1_Silent_p.K206K|PDLIM5_ENST00000538141.1_Silent_p.K186K|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000380176.3_Intron|PDLIM5_ENST00000318007.5_Silent_p.K186K|PDLIM5_ENST00000437932.1_Intron	p.K206K	NM_001011515.2	NP_001011515.1	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	9	769	+		Hepatocellular(203;0.114)	0					A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Silent	SNP	ENST00000317968.4	37	c.618G>A	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	9.296	1.051865	0.19827	.	.	ENSG00000163110	ENST00000513341	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	T	0.75354	0.3838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73344	-0.4012	4	.	.	.	.	19.4941	0.95064	0.0:0.0:1.0:0.0	.	.	.	.	K	168	.	.	R	+	2	0	PDLIM5	95727169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.343000	0.79319	2.682000	0.91365	0.591000	0.81541	AGA		0.363	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			4	18	0	0	0	1	0	4	18				
PTPRD	5789	broad.mit.edu	37	9	8389278	8389278	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr9:8389278C>T	ENST00000381196.4	-	34	4883	c.4340G>A	c.(4339-4341)cGg>cAg	p.R1447Q	PTPRD_ENST00000356435.5_Missense_Mutation_p.R1447Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1040Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1037Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1434Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1425Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1041Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1040Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1037Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1040Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1447Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1447	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTGGCACTCCGTTGTTCCCA	0.403										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4339-4341)cGg>cAg		protein tyrosine phosphatase, receptor type, D							178.0	172.0	174.0					9																	8389278		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8389278C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4340G>A	9.37:g.8389278C>T	ENSP00000370593:p.Arg1447Gln	TSP Lung(15;0.13)				PTPRD_ENST00000397606.3_Missense_Mutation_p.R1040Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1037Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1040Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1447Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1434Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1037Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1425Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1040Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1447Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1041Q	p.R1447Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	34	4883	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1447			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4340G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892443	0.91889	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.37046	0.0989	N	0.16266	0.395	0.58432	D	0.999999	D;D;D;D;D;D;P;D;D	0.71674	0.998;0.998;0.998;0.998;0.968;0.998;0.941;0.985;0.97	D;D;D;D;B;P;B;P;B	0.66602	0.945;0.945;0.945;0.945;0.268;0.908;0.398;0.472;0.379	T	0.07888	-1.0749	9	.	.	.	.	15.2257	0.73348	0.0:0.9312:0.0:0.0688	.	1040;1031;1040;1041;1037;1037;1434;1447;1447	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	Q	1447;1447;1434;1425;1041;1040;1037;1037;918;1447;1040;1040	ENSP00000370593:R1447Q;ENSP00000348812:R1447Q;ENSP00000353187:R1434Q;ENSP00000351293:R1425Q;ENSP00000347373:R1041Q;ENSP00000380741:R1040Q;ENSP00000380735:R1037Q;ENSP00000440515:R1037Q;ENSP00000438164:R1447Q;ENSP00000417093:R1040Q;ENSP00000380731:R1040Q	.	R	-	2	0	PTPRD	8379278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.027000	0.70881	2.763000	0.94921	0.555000	0.69702	CGG		0.403	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			45	69	0	0	0	1	0	45	69				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	2	0	0	0	1	0	2	2				
GNA15	2769	broad.mit.edu	37	19	3150224	3150224	+	Silent	SNP	C	C	T	rs143346089	byFrequency	TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr19:3150224C>T	ENST00000262958.3	+	3	684	c.426C>T	c.(424-426)gcC>gcT	p.A142A	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	142					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GGAGGGATGCCGGCATCCGGG	0.642																																						ENST00000262958.3																			0				large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(424-426)gcC>gcT		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							69.0	72.0	71.0					19																	3150224		2203	4299	6502	SO:0001819	synonymous_variant	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3150224C>T		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.426C>T	19.37:g.3150224C>T						AC005264.2_ENST00000587587.1_RNA	p.A142A	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	3	684	+		Hepatocellular(1079;0.137)	142					E9KL40|E9KL47|O75247|Q53XK2	Silent	SNP	ENST00000262958.3	37	c.426C>T	CCDS12104.1																																																																																				0.642	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		10	147	0	0	0	1	0	10	147				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	97	0	0	0	1	0	4	97				
AGAP4	119016	broad.mit.edu	37	10	46322027	46322027	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr10:46322027G>A	ENST00000448048.2	-	7	1453	c.1328C>T	c.(1327-1329)gCc>gTc	p.A443V	AGAP4_ENST00000430779.2_5'Flank	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	443	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(1)|lung(1)|ovary(1)	3						CGACTGCAGGGCCATGGCCTT	0.577																																						ENST00000448048.2																			0				central_nervous_system(1)|lung(1)|ovary(1)	3						c.(1327-1329)gCc>gTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4							19.0	18.0	18.0					10																	46322027		1954	3778	5732	SO:0001583	missense	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46322027G>A	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.1328C>T	10.37:g.46322027G>A	ENSP00000392513:p.Ala443Val						p.A443V	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			7	1453	-			443			Arf-GAP.			Missense_Mutation	SNP	ENST00000448048.2	37	c.1328C>T	CCDS7215.1	.	.	.	.	.	.	.	.	.	.	g	10.48	1.362715	0.24684	.	.	ENSG00000188234	ENST00000448048;ENST00000342551	T	0.41400	1.0	.	.	.	.	0.125014	0.52532	D	0.000062	T	0.46386	0.1390	L	0.37466	1.105	0.42070	D	0.991203	D;B;D	0.76494	0.999;0.115;0.999	D;B;D	0.91635	0.996;0.444;0.999	T	0.35251	-0.9796	9	0.49607	T	0.09	.	5.89	0.18904	8.0E-4:0.0:0.9992:0.0	.	466;511;443	C9JRW4;Q5VTM2;Q96P64	.;AGAP9_HUMAN;AGAP4_HUMAN	V	443;219	ENSP00000392513:A443V	ENSP00000343438:A219V	A	-	2	0	AGAP4	45642033	1.000000	0.71417	0.034000	0.17996	0.034000	0.12701	6.435000	0.73412	0.107000	0.17824	0.109000	0.15622	GCC		0.577	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		21	66	0	0	0	1	0	21	66				
LOC645166	645166	broad.mit.edu	37	1	148933357	148933357	+	lincRNA	SNP	T	T	C			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:148933357T>C	ENST00000539543.1	+	0	243					NR_027355.2																						CAAGACCTCATCAACAATTAA	0.453																																						ENST00000539543.1																			0																																																			0							g.chr1:148933357T>C																													1.37:g.148933357T>C								NR_027355.1						0	243	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.453	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				6	30	0	0	0	1	0	6	30				
IGF2R	3482	broad.mit.edu	37	6	160482642	160482642	+	Missense_Mutation	SNP	G	G	A	rs8191843	byFrequency	TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr6:160482642G>A	ENST00000356956.1	+	24	3518	c.3370G>A	c.(3370-3372)Gtt>Att	p.V1124I		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1124			V -> I (in dbSNP:rs8191843). {ECO:0000269|Ref.5}.		insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.V1124I(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTATTTGAGCGTTTGCAATCC	0.478																																						ENST00000356956.1																			1	Substitution - Missense(1)	p.V1124I(1)	endometrium(1)	breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3370-3372)Gtt>Att		insulin-like growth factor 2 receptor		G	ILE/VAL	0,4406		0,0,2203	186.0	178.0	181.0		3370	5.3	0.6	6	dbSNP_117	181	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IGF2R	NM_000876.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1124/2492	160482642	1,13005	2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160482642G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3370G>A	6.37:g.160482642G>A	ENSP00000349437:p.Val1124Ile						p.V1124I	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	24	3518	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1124		V -> I (in dbSNP:rs8191843).			Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.3370G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406537	0.62399	0.0	1.16E-4	ENSG00000197081	ENST00000356956	T	0.03745	3.82	5.35	5.35	0.76521	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.11110	0.0271	M	0.75085	2.285	0.58432	D	0.999998	D	0.89917	1.0	D	0.65323	0.934	T	0.06570	-1.0819	10	0.34782	T	0.22	-7.6027	19.0388	0.92989	0.0:0.0:1.0:0.0	rs8191843;rs8191843	1124	P11717	MPRI_HUMAN	I	1124	ENSP00000349437:V1124I	ENSP00000349437:V1124I	V	+	1	0	IGF2R	160402632	1.000000	0.71417	0.596000	0.28811	0.036000	0.12997	5.852000	0.69488	2.655000	0.90218	0.655000	0.94253	GTT		0.478	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		13	148	0	0	0	1	0	13	148				
ZNF568	374900	broad.mit.edu	37	19	37440962	37440962	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr19:37440962G>C	ENST00000333987.7	+	7	1413	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.E239Q	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATACTGGGGAGAAACCTTA	0.378																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(715-717)Gag>Cag		zinc finger protein 568							36.0	40.0	39.0					19																	37440962		2169	4283	6452	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440962G>C	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.907G>C	19.37:g.37440962G>C	ENSP00000334685:p.Glu303Gln					ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.E303Q	p.E239Q	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1091	+	Esophageal squamous(110;0.183)		303					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.715G>C	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352791	0.61293	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.25912	1.77;1.77	3.95	2.87	0.33458	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37437	N	0.002095	T	0.35158	0.0922	L	0.31207	0.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10337	-1.0634	10	0.72032	D	0.01	.	10.0237	0.42059	0.1042:0.0:0.8958:0.0	.	303	Q3ZCX4	ZN568_HUMAN	Q	303;239	ENSP00000334685:E303Q;ENSP00000394514:E239Q	ENSP00000334685:E303Q	E	+	1	0	ZNF568	42132802	1.000000	0.71417	0.079000	0.20413	0.994000	0.84299	3.549000	0.53681	0.956000	0.37904	0.655000	0.94253	GAG		0.378	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		4	40	0	0	0	1	0	4	40				
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340.0	303.0	316.0					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		5	221	0	0	0	1	0	5	221				
IGHV4-4	28401	broad.mit.edu	37	14	106478128	106478128	+	RNA	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr14:106478128G>A	ENST00000390596.2	-	0	393									immunoglobulin heavy variable 4-4																		AGTAATACACGGCCGTGTCCG	0.607																																						ENST00000390596.2																			0																				150.0	101.0	117.0					14																	106478128		1922	4088	6010			0							g.chr14:106478128G>A	X62112		14q32.33	2012-02-08			ENSG00000211936	ENSG00000276775		"""Immunoglobulins / IGH locus"""	5652	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152322		14.37:g.106478128G>A														0	393	-									RNA	SNP	ENST00000390596.2	37																																																																																						0.607	IGHV4-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325884.1	NG_001019		6	338	0	0	0	1	0	6	338				
SLC17A6	57084	broad.mit.edu	37	11	22382484	22382484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:22382484G>A	ENST00000263160.3	+	5	1052	c.615G>A	c.(613-615)tgG>tgA	p.W205*	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	205					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGAGCAAATGGGCCCCACCTC	0.478																																						ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(613-615)tgG>tgA		solute carrier family 17 (vesicular glutamate transporter), member 6							154.0	114.0	128.0					11																	22382484		2203	4300	6503	SO:0001587	stop_gained	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22382484G>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.615G>A	11.37:g.22382484G>A	ENSP00000263160:p.Trp205*						p.W205*	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN			5	1052	+			205					A6NKS2	Nonsense_Mutation	SNP	ENST00000263160.3	37	c.615G>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	41	8.734002	0.98933	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7347	0.96198	0.0:0.0:1.0:0.0	.	.	.	.	X	205;93	.	ENSP00000263160:W205X	W	+	3	0	SLC17A6	22339060	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.768000	0.98965	2.746000	0.94184	0.655000	0.94253	TGG		0.478	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		3	33	0	0	0	1	0	3	33				
PKHD1L1	93035	broad.mit.edu	37	8	110452985	110452985	+	Missense_Mutation	SNP	A	A	C	rs531943427		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr8:110452985A>C	ENST00000378402.5	+	33	4107	c.4003A>C	c.(4003-4005)Atg>Ctg	p.M1335L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1335	IPT/TIG 7.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGACCAGCATGTTTCCACA	0.368										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(4003-4005)Atg>Ctg		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							163.0	154.0	156.0					8																	110452985		1814	4080	5894	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110452985A>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4003A>C	8.37:g.110452985A>C	ENSP00000367655:p.Met1335Leu	HNSCC(38;0.096)					p.M1335L	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		33	4107	+			1335			IPT/TIG 7.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4003A>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	6.504	0.461280	0.12342	.	.	ENSG00000205038	ENST00000378402	T	0.74002	-0.8	6.17	2.49	0.30216	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.259820	0.38897	N	0.001534	T	0.51975	0.1706	N	0.14661	0.345	0.19575	N	0.999961	B	0.10296	0.003	B	0.08055	0.003	T	0.36648	-0.9739	10	0.38643	T	0.18	.	5.2283	0.15408	0.7216:0.0:0.1457:0.1327	.	1335	Q86WI1	PKHL1_HUMAN	L	1335	ENSP00000367655:M1335L	ENSP00000367655:M1335L	M	+	1	0	PKHD1L1	110522161	0.243000	0.23878	0.452000	0.26994	0.935000	0.57460	0.612000	0.24283	0.197000	0.20387	-0.333000	0.08304	ATG		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		14	111	0	0	0	1	0	14	111				
FCGBP	8857	broad.mit.edu	37	19	40368750	40368750	+	Missense_Mutation	SNP	G	G	A	rs529826298		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr19:40368750G>A	ENST00000221347.6	-	28	12605	c.12598C>T	c.(12598-12600)Cgg>Tgg	p.R4200W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4200	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGTCTACCCGCCAGTTCCAG	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		36603	0.0		0.0	False		,,,				2504	0.0					ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12598-12600)Cgg>Tgg		Fc fragment of IgG binding protein							180.0	193.0	188.0					19																	40368750		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368750G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12598C>T	19.37:g.40368750G>A	ENSP00000221347:p.Arg4200Trp						p.R4200W	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12605	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4200			VWFD 10.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12598C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	9.928	1.214062	0.22289	.	.	ENSG00000090920	ENST00000221347	T	0.61274	0.12	3.37	1.05	0.20165	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.67487	0.2898	M	0.87180	2.865	0.09310	N	1	D	0.69078	0.997	P	0.54815	0.761	T	0.55879	-0.8071	9	0.39692	T	0.17	.	5.1058	0.14783	0.1084:0.0:0.328:0.5636	.	4200	Q9Y6R7	FCGBP_HUMAN	W	4200	ENSP00000221347:R4200W	ENSP00000221347:R4200W	R	-	1	2	FCGBP	45060590	0.000000	0.05858	0.390000	0.26220	0.110000	0.19582	-0.472000	0.06623	0.363000	0.24346	0.305000	0.20034	CGG		0.602	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		8	497	0	0	0	1	0	8	497				
DNM1P47	100216544	broad.mit.edu	37	15	102304770	102304770	+	RNA	SNP	C	C	T	rs62026988	byFrequency	TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr15:102304770C>T	ENST00000561463.1	+	0	12816									DNM1 pseudogene 47																		GGCACAGCGGCGTGACGAGAC	0.592																																						ENST00000561463.1																			0																																																			0							g.chr15:102304770C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304770C>T														0	12816	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	20	0	0	0	1	0	4	20				
TUBGCP3	10426	broad.mit.edu	37	13	113223466	113223466	+	Splice_Site	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr13:113223466G>A	ENST00000261965.3	-	2	370	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	TUBGCP3_ENST00000375669.3_Splice_Site_p.L62F	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	62					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AAATACGTACGCTCTTTCTTG	0.413																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.e2+1		tubulin, gamma complex associated protein 3							111.0	101.0	104.0					13																	113223466		2203	4300	6503	SO:0001630	splice_region_variant	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113223466G>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.184+1C>T	13.37:g.113223466G>A						TUBGCP3_ENST00000375669.3_Splice_Site_p.L62_splice	p.L62_splice	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			2	370	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		62					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Splice_Site	SNP	ENST00000261965.3	37	c.184_splice	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256452	0.39896	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.60299	0.26;0.2	4.98	4.14	0.48551	.	0.066112	0.64402	D	0.000014	T	0.47875	0.1469	L	0.52905	1.665	0.50313	D	0.999865	B;P;B;B	0.42941	0.063;0.794;0.306;0.1	B;B;B;B	0.36959	0.011;0.237;0.058;0.011	T	0.43702	-0.9375	9	.	.	.	-16.4444	9.4703	0.38837	0.1632:0.0:0.8368:0.0	.	62;62;62;62	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	F	62	ENSP00000261965:L62F;ENSP00000364821:L62F	.	L	-	1	0	TUBGCP3	112271467	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.066000	0.30604	1.120000	0.41904	0.536000	0.68110	CTT		0.413	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322	Missense_Mutation	9	31	0	0	0	1	0	9	31				
SYNE1	23345	broad.mit.edu	37	6	152652957	152652957	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr6:152652957C>T	ENST00000367255.5	-	78	13464	c.12863G>A	c.(12862-12864)aGa>aAa	p.R4288K	SYNE1_ENST00000448038.1_Missense_Mutation_p.R4217K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4153K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R4288K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R4217K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4288					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCATACTTTCTCTCCTGCAA	0.373										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(12862-12864)aGa>aAa		spectrin repeat containing, nuclear envelope 1							92.0	92.0	92.0					6																	152652957		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652957C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12863G>A	6.37:g.152652957C>T	ENSP00000356224:p.Arg4288Lys	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.R4217K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4153K|SYNE1_ENST00000448038.1_Missense_Mutation_p.R4217K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R4288K	p.R4288K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	13464	-		Ovarian(120;0.0955)	4288					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12863G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808641	0.31961	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.66	-0.865	0.10662	.	0.521960	0.18623	N	0.135808	T	0.04407	0.0121	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.44590	-0.9318	10	0.02654	T	1	.	11.4017	0.49875	0.0:0.5503:0.0:0.4497	.	4288;4288;4288;4217	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	4288;4217;4288;4217;4153	ENSP00000356224:R4288K;ENSP00000396024:R4217K;ENSP00000265368:R4288K;ENSP00000390975:R4217K;ENSP00000341887:R4153K	ENSP00000265368:R4288K	R	-	2	0	SYNE1	152694650	0.128000	0.22383	0.056000	0.19401	0.975000	0.68041	0.858000	0.27845	-0.063000	0.13065	0.591000	0.81541	AGA		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		19	50	0	0	0	1	0	19	50				
SUPT16H	11198	broad.mit.edu	37	14	21820850	21820850	+	Silent	SNP	G	G	T			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr14:21820850G>T	ENST00000216297.2	-	26	3464	c.3126C>A	c.(3124-3126)ccC>ccA	p.P1042P		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1042					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCTTTTTCTTGGGGGGTGCAG	0.483																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(3124-3126)ccC>ccA		suppressor of Ty 16 homolog (S. cerevisiae)							146.0	147.0	147.0					14																	21820850		2203	4300	6503	SO:0001819	synonymous_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21820850G>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.3126C>A	14.37:g.21820850G>T							p.P1042P	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	26	3464	-	all_cancers(95;0.00115)		1042					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	c.3126C>A	CCDS9569.1																																																																																				0.483	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			4	172	1	0	0.00909568	1	0.00909568	4	172				
MYO7A	4647	broad.mit.edu	37	11	76873971	76873971	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:76873971A>T	ENST00000409709.3	+	14	1899	c.1627A>T	c.(1627-1629)Aac>Tac	p.N543Y	MYO7A_ENST00000458637.2_Missense_Mutation_p.N543Y|MYO7A_ENST00000409893.1_Missense_Mutation_p.N543Y|MYO7A_ENST00000409619.2_Missense_Mutation_p.N532Y	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	543	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCCCCCAAGAACAACCATGA	0.572																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1627-1629)Aac>Tac		myosin VIIA							213.0	235.0	228.0					11																	76873971		2099	4215	6314	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76873971A>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1627A>T	11.37:g.76873971A>T	ENSP00000386331:p.Asn543Tyr					MYO7A_ENST00000409893.1_Missense_Mutation_p.N543Y|MYO7A_ENST00000409619.2_Missense_Mutation_p.N532Y|MYO7A_ENST00000458637.2_Missense_Mutation_p.N543Y	p.N543Y	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			14	1899	+			543			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.1627A>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.602687	0.66445	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000343419	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.02	5.02	0.67125	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	M	0.66506	2.035	0.58432	D	0.999999	B;B;P	0.40794	0.1;0.2;0.729	B;B;P	0.47470	0.088;0.139;0.548	D	0.87125	0.2193	10	0.29301	T	0.29	.	14.8886	0.70590	1.0:0.0:0.0:0.0	.	543;543;543	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	Y	543;543;543;532;542;542;542	ENSP00000386331:N543Y;ENSP00000386689:N543Y;ENSP00000392185:N543Y;ENSP00000386635:N532Y	ENSP00000340325:N542Y	N	+	1	0	MYO7A	76551619	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.608000	0.67654	2.107000	0.64212	0.402000	0.26972	AAC		0.572	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		8	153	0	0	0	1	0	8	153				
SAMD9	54809	broad.mit.edu	37	7	92731791	92731791	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr7:92731791G>T	ENST00000379958.2	-	3	3889	c.3620C>A	c.(3619-3621)aCa>aAa	p.T1207K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1207						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AATTTGGATTGTGTAAAGCCC	0.348																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3619-3621)aCa>aAa		sterile alpha motif domain containing 9							124.0	124.0	124.0					7																	92731791		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92731791G>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3620C>A	7.37:g.92731791G>T	ENSP00000369292:p.Thr1207Lys						p.T1207K	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3889	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1207					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.3620C>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732177	0.30684	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.24350	1.86;2.66	4.54	2.64	0.31445	.	0.481828	0.18946	N	0.126809	T	0.20088	0.0483	L	0.48642	1.525	0.09310	N	1	B	0.29432	0.244	B	0.27076	0.076	T	0.14952	-1.0454	10	0.51188	T	0.08	-3.6652	6.7826	0.23654	0.1549:0.1597:0.6854:0.0	.	1207	Q5K651	SAMD9_HUMAN	K	1207	ENSP00000369292:T1207K;ENSP00000414529:T1207K	ENSP00000369292:T1207K	T	-	2	0	SAMD9	92569727	0.010000	0.17322	0.651000	0.29564	0.876000	0.50452	2.062000	0.41413	1.102000	0.41551	0.511000	0.50034	ACA		0.348	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		6	125	1	0	2.0095e-06	1	2.13776e-06	6	125				
TACSTD2	4070	broad.mit.edu	37	1	59042487	59042487	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:59042487G>T	ENST00000371225.2	-	1	679	c.342C>A	c.(340-342)ttC>ttA	p.F114L		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	114	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					GGCGCGCCTTGAAGCGGCCCT	0.701																																						ENST00000371225.2																			0											c.(340-342)ttC>ttA		tumor-associated calcium signal transducer 2							19.0	15.0	16.0					1																	59042487		2195	4293	6488	SO:0001583	missense	4070				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity	g.chr1:59042487G>T	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.342C>A	1.37:g.59042487G>T	ENSP00000360269:p.Phe114Leu						p.F114L	NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN			1	679	-	all_cancers(7;6.54e-05)		114			Thyroglobulin type-1.		Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Missense_Mutation	SNP	ENST00000371225.2	37	c.342C>A	CCDS609.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876749	0.91664	.	.	ENSG00000184292	ENST00000371225	T	0.70399	-0.48	4.54	3.62	0.41486	Thyroglobulin type-1 (6);	0.000000	0.85682	D	0.000000	D	0.82875	0.5132	M	0.80332	2.49	0.53688	D	0.999979	D	0.76494	0.999	D	0.87578	0.998	D	0.84454	0.0590	10	0.87932	D	0	-25.0466	11.2316	0.48916	0.0861:0.0:0.9139:0.0	.	114	P09758	TACD2_HUMAN	L	114	ENSP00000360269:F114L	ENSP00000360269:F114L	F	-	3	2	TACSTD2	58815075	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.652000	0.46682	1.112000	0.41740	0.561000	0.74099	TTC		0.701	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1	NM_002353		10	4	1	0	0.00621372	1	0.00647262	10	4				
ATP8B2	57198	broad.mit.edu	37	1	154305093	154305093	+	Splice_Site	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:154305093G>A	ENST00000368489.3	+	9	608		c.e9-1		ATP8B2_ENST00000426445.1_Splice_Site|ATP8B2_ENST00000368487.3_Splice_Site|ATP8B2_ENST00000341822.2_Splice_Site	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGTCCTTCCAGCGAGACCAAC	0.507																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.e9-1		ATPase, aminophospholipid transporter, class I, type 8B, member 2							120.0	97.0	105.0					1																	154305093		2202	4299	6501	SO:0001630	splice_region_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154305093G>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.609-1G>A	1.37:g.154305093G>A						ATP8B2_ENST00000368487.3_Splice_Site|ATP8B2_ENST00000341822.2_Splice_Site|ATP8B2_ENST00000426445.1_Splice_Site		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		9	608	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)							B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Splice_Site	SNP	ENST00000368489.3	37		CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087770	0.36855	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3057	0.87194	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP8B2	152571717	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	9.218000	0.95166	2.656000	0.90262	0.650000	0.86243	.		0.507	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452	Intron	3	7	0	0	0	1	0	3	7				
OR8I2	120586	broad.mit.edu	37	11	55861503	55861503	+	Silent	SNP	C	C	T	rs141691557		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:55861503C>T	ENST00000302124.2	+	1	751	c.720C>T	c.(718-720)tgC>tgT	p.C240C		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCTCCACCTGCGCATCCCACC	0.493																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(718-720)tgC>tgT		olfactory receptor, family 8, subfamily I, member 2		C		0,4402		0,0,2201	149.0	138.0	142.0		720	1.8	0.5	11	dbSNP_134	142	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR8I2	NM_001003750.1		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		240/311	55861503	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861503C>T	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.720C>T	11.37:g.55861503C>T						OR8I2_ENST00000560768.1_3'UTR	p.C240C			Q8N0Y5	OR8I2_HUMAN			1	751	+	Esophageal squamous(21;0.00693)		240					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.720C>T	CCDS31517.1																																																																																				0.493	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		45	47	0	0	0	1	0	45	47				
RPS6KC1	26750	broad.mit.edu	37	1	213303168	213303168	+	Missense_Mutation	SNP	C	C	A	rs573792172	byFrequency	TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:213303168C>A	ENST00000366960.3	+	6	921	c.771C>A	c.(769-771)gaC>gaA	p.D257E	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D245E|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D76E	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	257					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAGAAGAAGACGACTATGAAG	0.383																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(769-771)gaC>gaA		ribosomal protein S6 kinase, 52kDa, polypeptide 1							60.0	63.0	62.0					1																	213303168		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213303168C>A	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.771C>A	1.37:g.213303168C>A	ENSP00000355927:p.Asp257Glu					RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D76E|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D245E|RPS6KC1_ENST00000490299.1_3'UTR	p.D257E	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	6	921	+			257					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.771C>A	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	c	0.365	-0.936959	0.02340	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959	T;T;T	0.69175	-0.38;-0.38;-0.38	5.54	-11.1	0.00147	MIT (2);	0.499064	0.23479	N	0.047734	T	0.15652	0.0377	N	0.00289	-1.7	0.80722	D	1	B;B;B	0.14012	0.009;0.006;0.006	B;B;B	0.19148	0.024;0.017;0.017	T	0.52465	-0.8572	10	0.02654	T	1	-18.8612	7.3383	0.26623	0.1164:0.501:0.0643:0.3184	.	76;257;245	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	E	76;257;245	ENSP00000442306:D76E;ENSP00000355927:D257E;ENSP00000355926:D245E	ENSP00000355926:D245E	D	+	3	2	RPS6KC1	211369791	0.098000	0.21812	0.446000	0.26920	0.717000	0.41224	-0.718000	0.04980	-2.364000	0.00607	-3.119000	0.00061	GAC		0.383	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		4	59	1	0	0.00909568	1	0.00909568	4	59				
CCDC108	255101	broad.mit.edu	37	2	219892592	219892592	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr2:219892592G>A	ENST00000341552.5	-	13	2074	c.1991C>T	c.(1990-1992)cCa>cTa	p.P664L	CCDC108_ENST00000410037.1_Missense_Mutation_p.P599L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P664L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P664L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P653L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	664						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCAGGCCCTGGGCAGGCACC	0.617																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1990-1992)cCa>cTa		coiled-coil domain containing 108							48.0	48.0	48.0					2																	219892592		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219892592G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1991C>T	2.37:g.219892592G>A	ENSP00000340776:p.Pro664Leu					CCDC108_ENST00000441968.1_Missense_Mutation_p.P664L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P664L|CCDC108_ENST00000410037.1_Missense_Mutation_p.P599L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P653L	p.P664L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2074	-		Renal(207;0.0915)	664					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.1991C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859139	0.51376	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.07327	3.51;3.51;3.51;3.2;3.22	5.18	5.18	0.71444	.	0.642064	0.13847	N	0.358653	T	0.09555	0.0235	L	0.60455	1.87	0.80722	D	1	P;P;B	0.34977	0.478;0.478;0.274	B;B;B	0.33960	0.173;0.173;0.112	T	0.08166	-1.0735	10	0.07644	T	0.81	-8.0752	12.6407	0.56709	0.0855:0.0:0.9145:0.0	.	653;598;664	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	L	664;664;664;140;653;599;598	ENSP00000340776:P664L;ENSP00000413377:P664L;ENSP00000409117:P664L;ENSP00000386945:P653L;ENSP00000386258:P599L	ENSP00000340776:P664L	P	-	2	0	CCDC108	219600836	0.981000	0.34729	0.404000	0.26397	0.868000	0.49771	5.304000	0.65744	2.688000	0.91661	0.655000	0.94253	CCA		0.617	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		16	24	0	0	0	1	0	16	24				
OR2Y1	134083	broad.mit.edu	37	5	180166466	180166466	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr5:180166466A>T	ENST00000307832.2	-	1	633	c.593T>A	c.(592-594)aTg>aAg	p.M198K		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCACAAACATCTTGGCCTC	0.517																																						ENST00000307832.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(592-594)aTg>aAg		olfactory receptor, family 2, subfamily Y, member 1							97.0	84.0	88.0					5																	180166466		2203	4300	6503	SO:0001583	missense	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166466A>T	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.593T>A	5.37:g.180166466A>T	ENSP00000312403:p.Met198Lys						p.M198K	NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	633	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	198					B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	c.593T>A	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	a	15.75	2.924218	0.52653	.	.	ENSG00000174339	ENST00000307832	T	0.00099	8.73	4.41	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	0.095542	0.46442	D	0.000288	T	0.00328	0.0010	M	0.78223	2.4	0.09310	N	1	D	0.61697	0.99	D	0.63033	0.91	T	0.42849	-0.9427	10	0.87932	D	0	.	6.1712	0.20418	0.6741:0.1664:0.0:0.1595	.	198	Q8NGV0	OR2Y1_HUMAN	K	198	ENSP00000312403:M198K	ENSP00000312403:M198K	M	-	2	0	OR2Y1	180099072	0.009000	0.17119	0.043000	0.18650	0.002000	0.02628	2.282000	0.43461	0.304000	0.22809	0.418000	0.28097	ATG		0.517	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		4	80	0	0	0	1	0	4	80				
DNAJC7	7266	broad.mit.edu	37	17	40149135	40149135	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr17:40149135G>A	ENST00000457167.4	-	3	525	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	DNAJC7_ENST00000316603.7_Missense_Mutation_p.R41W|DNAJC7_ENST00000426588.3_Missense_Mutation_p.R41W	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	97					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				ATACATACCCGGACAAAACTG	0.483																																					Colon(63;618 1117 8600 10857 19751)	ENST00000457167.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(289-291)Cgg>Tgg		DnaJ (Hsp40) homolog, subfamily C, member 7							108.0	102.0	104.0					17																	40149135		1958	4122	6080	SO:0001583	missense	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40149135G>A	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.289C>T	17.37:g.40149135G>A	ENSP00000406463:p.Arg97Trp					DNAJC7_ENST00000316603.7_Missense_Mutation_p.R41W|DNAJC7_ENST00000426588.3_Missense_Mutation_p.R41W	p.R97W	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN			3	525	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)	97					Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	c.289C>T	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105157	0.77096	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.76186	1.11;-1.0;-1.0	5.71	5.71	0.89125	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.051298	0.85682	D	0.000000	T	0.75693	0.3884	N	0.24115	0.695	0.49582	D	0.999805	P;D;D	0.65815	0.648;0.995;0.96	B;P;B	0.61003	0.258;0.882;0.368	T	0.78142	-0.2319	10	0.87932	D	0	-3.552	14.5867	0.68331	0.0:0.0:0.7423:0.2577	.	86;41;97	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	W	97;41;41	ENSP00000406463:R97W;ENSP00000394327:R41W;ENSP00000313311:R41W	ENSP00000313311:R41W	R	-	1	2	DNAJC7	37402661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.171000	0.50824	2.861000	0.98227	0.650000	0.86243	CGG		0.483	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			3	35	0	0	0	1	0	3	35				
OR5L1	219437	broad.mit.edu	37	11	55579363	55579363	+	Missense_Mutation	SNP	C	C	T	rs372180673		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr11:55579363C>T	ENST00000333973.2	+	1	510	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTGGAAGGTGCGTGTGGAGCT	0.498																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(421-423)Cgt>Tgt		olfactory receptor, family 5, subfamily L, member 1							217.0	174.0	189.0					11																	55579363		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579363C>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.421C>T	11.37:g.55579363C>T	ENSP00000335529:p.Arg141Cys						p.R141C	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	510	+		all_epithelial(135;0.208)	141					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.421C>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	0.012	-1.658582	0.00779	.	.	ENSG00000186117	ENST00000333973	T	0.34275	1.37	3.98	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.359275	0.24386	N	0.038975	T	0.05868	0.0153	N	0.00065	-2.305	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.42916	-0.9423	10	0.02654	T	1	-1.0929	9.8759	0.41202	0.0:0.0985:0.0:0.9015	.	141	Q8NGL2	OR5L1_HUMAN	C	141	ENSP00000335529:R141C	ENSP00000335529:R141C	R	+	1	0	OR5L1	55335939	0.084000	0.21492	0.001000	0.08648	0.005000	0.04900	0.517000	0.22832	0.026000	0.15269	-1.420000	0.01111	CGT		0.498	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		6	120	0	0	0	1	0	6	120				
COL24A1	255631	broad.mit.edu	37	1	86590761	86590761	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:86590761C>T	ENST00000370571.2	-	3	1624	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	420					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.E420*(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCATGAGTTCGTTAGTGTGT	0.358																																						ENST00000370571.2																			1	Substitution - Nonsense(1)	p.E420*(1)	upper_aerodigestive_tract(1)	NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1258-1260)Gaa>Aaa		collagen, type XXIV, alpha 1							154.0	130.0	137.0					1																	86590761		1866	4104	5970	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590761C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1258G>A	1.37:g.86590761C>T	ENSP00000359603:p.Glu420Lys					COL24A1_ENST00000436319.1_Missense_Mutation_p.E420K	p.E420K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1624	-			420					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1258G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	9.195	1.026954	0.19512	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.11821	2.74;2.74	5.45	3.24	0.37175	.	0.000000	0.40640	N	0.001059	T	0.02418	0.0074	N	0.19112	0.55	0.35766	D	0.820548	B;B	0.27791	0.189;0.046	B;B	0.25506	0.061;0.005	T	0.29119	-1.0022	10	0.07990	T	0.79	.	10.6098	0.45415	0.0:0.8214:0.0:0.1786	.	420;420	F8WDM8;Q17RW2	.;COOA1_HUMAN	K	420	ENSP00000359603:E420K;ENSP00000392531:E420K	ENSP00000359603:E420K	E	-	1	0	COL24A1	86363349	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.119000	0.41958	1.307000	0.44944	0.563000	0.77884	GAA		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		4	58	0	0	0	1	0	4	58				
SNHG14	104472715	broad.mit.edu	37	15	25479281	25479281	+	RNA	SNP	T	T	C			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr15:25479281T>C	ENST00000453082.2	+	0	1822				SNORD115-35_ENST00000365122.1_RNA|SNORD115-36_ENST00000365629.1_RNA|SNORD115-34_ENST00000362441.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		GCTCAGCCCATGGTGTGCTGA	0.607																																						ENST00000453082.2																			0																																																			0							g.chr15:25479281T>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25479281T>C								NR_003343.1						0	1822	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.607	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			3	39	0	0	0	1	0	3	39				
OR2G2	81470	broad.mit.edu	37	1	247752563	247752563	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:247752563A>T	ENST00000320065.1	+	1	902	c.902A>T	c.(901-903)aAa>aTa	p.K301I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGGAGGTGAAAGGGGCATTA	0.368																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(901-903)aAa>aTa		olfactory receptor, family 2, subfamily G, member 2							80.0	85.0	83.0					1																	247752563		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752563A>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.902A>T	1.37:g.247752563A>T	ENSP00000326349:p.Lys301Ile					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.K301I	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	902	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		301					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.902A>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094008	0.36952	.	.	ENSG00000177489	ENST00000320065	T	0.40225	1.04	4.05	4.05	0.47172	.	0.000000	0.38837	U	0.001543	T	0.47637	0.1456	L	0.48260	1.515	0.09310	N	1	D	0.58268	0.982	P	0.54460	0.753	T	0.39461	-0.9613	10	0.87932	D	0	.	11.0421	0.47838	1.0:0.0:0.0:0.0	.	301	Q8NGZ5	OR2G2_HUMAN	I	301	ENSP00000326349:K301I	ENSP00000326349:K301I	K	+	2	0	OR2G2	245819186	0.001000	0.12720	0.005000	0.12908	0.107000	0.19398	1.529000	0.35996	1.688000	0.51068	0.477000	0.44152	AAA		0.368	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			6	101	0	0	0	1	0	6	101				
MAGEL2	54551	broad.mit.edu	37	15	23889170	23889170	+	Silent	SNP	G	G	A	rs368278417		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr15:23889170G>A	ENST00000532292.1	-	1	2005	c.1911C>T	c.(1909-1911)caC>caT	p.H637H		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	520					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGTGGGGCCGTGGGCACTGT	0.587																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1909-1911)caC>caT		MAGE-like 2		G		0,4092		0,0,2046	35.0	39.0	37.0		3720	-8.4	0.0	15		37	1,8375		0,1,4187	no	coding-synonymous	MAGEL2	NM_019066.4		0,1,6233	AA,AG,GG		0.0119,0.0,0.0080		1240/1250	23889170	1,12467	2046	4188	6234	SO:0001819	synonymous_variant	54551							g.chr15:23889170G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1911C>T	15.37:g.23889170G>A							p.H637H	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	2005	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Silent	SNP	ENST00000532292.1	37	c.1911C>T		.	.	.	.	.	.	.	.	.	.	G	0.007	-1.940585	0.00479	0.0	1.19E-4	ENSG00000254585	ENST00000532292	.	.	.	4.28	-8.39	0.00969	.	.	.	.	.	T	0.25232	0.0613	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28396	-1.0045	4	.	.	.	.	8.2508	0.31717	0.2078:0.2276:0.5645:0.0	.	.	.	.	M	669	.	.	T	-	2	0	MAGEL2	21440263	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.211000	0.01226	-1.963000	0.01013	-1.084000	0.02203	ACG		0.587	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		4	29	0	0	0	1	0	4	29				
KRTAP4-6	81871	broad.mit.edu	37	17	39296556	39296556	+	Missense_Mutation	SNP	G	G	A	rs567238473	byFrequency	TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr17:39296556G>A	ENST00000345847.4	-	1	183	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	62	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						cagctgggacggcagcAGGTG	0.667													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		17854	0.0		0.001	False		,,,				2504	0.0					ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(184-186)Cgt>Tgt		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296556G>A	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.184C>T	17.37:g.39296556G>A	ENSP00000328270:p.Arg62Cys						p.R62C	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	183	-			62			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.184C>T	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	12.51	1.958365	0.34565	.	.	ENSG00000198090	ENST00000345847	T	0.00616	6.2	4.81	-1.49	0.08718	.	1.669520	0.04239	U	0.336543	T	0.01061	0.0035	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.48603	-0.9021	7	0.59425	D	0.04	.	9.6892	0.40118	0.0:0.1206:0.3706:0.5088	.	.	.	.	C	62	ENSP00000328270:R62C	ENSP00000328270:R62C	R	-	1	0	KRTAP4-6	36550082	0.000000	0.05858	0.020000	0.16555	0.063000	0.16089	-3.330000	0.00509	-0.573000	0.05998	-0.187000	0.12897	CGT		0.667	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	64	0	0	0	1	0	4	64				
PHACTR4	65979	broad.mit.edu	37	1	28785730	28785730	+	Frame_Shift_Del	DEL	A	A	-	rs550399400		TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr1:28785730delA	ENST00000373839.3	+	3	412	c.151delA	c.(151-153)aaafs	p.K53fs	PHACTR4_ENST00000373836.3_Frame_Shift_Del_p.K63fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	53					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.S64fs*12(3)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GAAATGGAGGAAAAAAAAAAG	0.393																																						ENST00000373839.3																			3	Deletion - Frameshift(3)	p.S64fs*12(3)	ovary(2)|breast(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(151-153)aafs		phosphatase and actin regulator 4			,	74,3472		1,72,1700	69.0	66.0	67.0		,	4.4	1.0	1		71	172,7652		3,166,3743	no	frameshift,frameshift	PHACTR4	NM_023923.3,NM_001048183.1	,	4,238,5443	A1A1,A1R,RR		2.1984,2.0869,2.1636	,	,	28785730	246,11124	1842	4093	5935	SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28785730delA	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.151delA	1.37:g.28785730delA	ENSP00000362945:p.Lys53fs					PHACTR4_ENST00000373836.3_Frame_Shift_Del_p.K63fs|PHACTR4_ENST00000493669.1_3'UTR	p.K53fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	3	412	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	53					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Del	DEL	ENST00000373839.3	37	c.151delA	CCDS41293.1																																																																																				0.393	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		9	63						9	63	---	---	---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-2A-A8VV-01A-11D-A377-08	TCGA-2A-A8VV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ff080c-59c0-40d6-b8b1-4480719d7d17	1a90833f-1b9b-4585-8e45-807709fcf434	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		2	4						2	4	---	---	---	---
