#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LCE5A	254910	broad.mit.edu	37	1	152484310	152484310	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr1:152484310C>G	ENST00000334269.2	+	2	476	c.300C>G	c.(298-300)agC>agG	p.S100R	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	100	Cys-rich.				keratinization (GO:0031424)			p.S100R(1)		lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCTCCAGCTGCTGCCACA	0.682																																						ENST00000334269.2																			1	Substitution - Missense(1)	p.S100R(1)	prostate(1)	lung(3)|ovary(1)|prostate(3)	7						c.(298-300)agC>agG		late cornified envelope 5A							14.0	18.0	16.0					1																	152484310		2123	4196	6319	SO:0001583	missense	254910				keratinization			g.chr1:152484310C>G	BI670518	CCDS1011.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000186207	ENSG00000186207		"""Late cornified envelopes"""	16614	protein-coding gene	gene with protein product		612619	"""small proline rich-like (epidermal differentiation complex) 5A"""	SPRL5A		11698679	Standard	NM_178438		Approved	LEP18	uc001ezy.3	Q5TCM9	OTTHUMG00000014401	ENST00000334269.2:c.300C>G	1.37:g.152484310C>G	ENSP00000333952:p.Ser100Arg						p.S100R	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	476	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		100			Cys-rich.			Missense_Mutation	SNP	ENST00000334269.2	37	c.300C>G	CCDS1011.1	.	.	.	.	.	.	.	.	.	.	C	2.560	-0.302180	0.05495	.	.	ENSG00000186207	ENST00000334269	T	0.04119	3.7	3.91	1.96	0.26148	.	.	.	.	.	T	0.02380	0.0073	M	0.61703	1.905	0.20196	N	0.999926	P	0.40794	0.729	B	0.42062	0.374	T	0.42327	-0.9458	9	0.51188	T	0.08	-6.3021	4.4279	0.11513	0.2226:0.6579:0.0:0.1195	.	100	Q5TCM9	LCE5A_HUMAN	R	100	ENSP00000333952:S100R	ENSP00000333952:S100R	S	+	3	2	LCE5A	150750934	0.115000	0.22152	0.923000	0.36655	0.082000	0.17680	0.353000	0.20130	0.401000	0.25424	0.609000	0.83330	AGC		0.682	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040059.1	NM_178438		4	9	4	9	---	---	---	---
GALNT2	2590	broad.mit.edu	37	1	230338965	230338965	+	Silent	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr1:230338965C>T	ENST00000366672.4	+	3	375	c.303C>T	c.(301-303)cgC>cgT	p.R101R	GALNT2_ENST00000541865.1_Silent_p.R11R|GALNT2_ENST00000543760.1_Silent_p.R63R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	101					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R101R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTTACGCCCGCAACAAGTTCA	0.552																																						ENST00000366672.4																			1	Substitution - coding silent(1)	p.R101R(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(301-303)cgC>cgT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							123.0	123.0	123.0					1																	230338965		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230338965C>T	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.303C>T	1.37:g.230338965C>T						GALNT2_ENST00000541865.1_Silent_p.R11R|GALNT2_ENST00000543760.1_Silent_p.R63R	p.R101R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			3	375	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	101					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	c.303C>T	CCDS1582.1																																																																																				0.552	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		6	224	6	224	---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37441066	37441066	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:37441066C>T	ENST00000234170.5	-	10	2631	c.2486G>A	c.(2485-2487)cGg>cAg	p.R829Q	RP11-423P10.2_ENST00000606229.1_RNA|AC007390.5_ENST00000438935.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	829					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R829Q(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATCTGCATCCCGTTTTTGTTT	0.269																																						ENST00000234170.5																			1	Substitution - Missense(1)	p.R829Q(1)	prostate(1)	breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(2485-2487)cGg>cAg		CCAAT/enhancer binding protein (C/EBP), zeta							208.0	200.0	203.0					2																	37441066		2202	4300	6502	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37441066C>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2486G>A	2.37:g.37441066C>T	ENSP00000234170:p.Arg829Gln					AC007390.5_ENST00000438935.2_Intron	p.R829Q	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			10	2631	-		all_hematologic(82;0.21)	829					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.2486G>A	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874279	0.33069	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.15487	2.42	5.63	0.453	0.16639	Armadillo-type fold (1);	0.369897	0.26546	N	0.023765	T	0.10723	0.0262	L	0.43757	1.38	0.23876	N	0.996593	B	0.32862	0.387	B	0.18561	0.022	T	0.15665	-1.0429	10	0.87932	D	0	.	6.0564	0.19815	0.0:0.5034:0.2279:0.2687	.	829	Q03701	CEBPZ_HUMAN	Q	829	ENSP00000234170:R829Q	ENSP00000234170:R829Q	R	-	2	0	CEBPZ	37294570	0.010000	0.17322	0.005000	0.12908	0.752000	0.42762	0.281000	0.18810	-0.211000	0.10124	-0.302000	0.09304	CGG		0.269	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		9	42	9	42	---	---	---	---
RAPH1	65059	broad.mit.edu	37	2	204304794	204304794	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:204304794A>G	ENST00000319170.5	-	14	3418	c.3119T>C	c.(3118-3120)gTt>gCt	p.V1040A	RAPH1_ENST00000374493.3_Missense_Mutation_p.V1092A|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1040					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.V1040A(2)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGTTGGAGAACTCCAGGAAG	0.537																																						ENST00000319170.5																			2	Substitution - Missense(2)	p.V1040A(2)	prostate(2)	breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3118-3120)gTt>gCt		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							45.0	51.0	49.0					2																	204304794		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204304794A>G	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3119T>C	2.37:g.204304794A>G	ENSP00000316543:p.Val1040Ala					RAPH1_ENST00000374493.3_Missense_Mutation_p.V1092A|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	p.V1040A	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	3418	-			1040					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.3119T>C	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.548255	0.27652	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.39229	1.1;1.09	4.23	0.321	0.15883	.	.	.	.	.	T	0.18841	0.0452	N	0.04880	-0.145	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.18116	-1.0347	9	0.35671	T	0.21	.	5.1035	0.14772	0.6188:0.1447:0.2365:0.0	.	1040	Q70E73	RAPH1_HUMAN	A	1040;1092	ENSP00000316543:V1040A;ENSP00000363617:V1092A	ENSP00000316543:V1040A	V	-	2	0	RAPH1	204013039	0.003000	0.15002	0.000000	0.03702	0.609000	0.37215	1.477000	0.35431	-0.118000	0.11851	0.383000	0.25322	GTT		0.537	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		53	100	53	100	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228155518	228155518	+	Silent	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:228155518C>A	ENST00000396578.3	+	37	3288	c.3126C>A	c.(3124-3126)ggC>ggA	p.G1042G	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1042	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.G1042G(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAAGACCAGGCCTCCCAGGTA	0.488																																						ENST00000396578.3																			2	Substitution - coding silent(2)	p.G1042G(2)	prostate(2)	NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3124-3126)ggC>ggA		collagen, type IV, alpha 3 (Goodpasture antigen)							70.0	68.0	68.0					2																	228155518		1861	4097	5958	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228155518C>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3126C>A	2.37:g.228155518C>A						AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.G1042G	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	37	3288	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1042			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.3126C>A	CCDS42829.1																																																																																				0.488	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		3	61	3	61	---	---	---	---
PID1	55022	broad.mit.edu	37	2	229890759	229890759	+	Silent	SNP	T	T	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:229890759T>A	ENST00000354069.6	-	3	372	c.342A>T	c.(340-342)ccA>ccT	p.P114P	PID1_ENST00000392055.3_Silent_p.P81P|PID1_ENST00000409462.1_Silent_p.P32P|PID1_ENST00000392054.3_Silent_p.P112P|PID1_ENST00000482518.2_Intron			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	114	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P112P(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GCTCAATGACTGGCTTTTCTG	0.532																																						ENST00000392054.3																			1	Substitution - coding silent(1)	p.P112P(1)	prostate(1)	breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(334-336)ccA>ccT		phosphotyrosine interaction domain containing 1							79.0	76.0	77.0					2																	229890759		2203	4300	6503	SO:0001819	synonymous_variant	55022					cytoplasm		g.chr2:229890759T>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.342A>T	2.37:g.229890759T>A						PID1_ENST00000409462.1_Silent_p.P32P|PID1_ENST00000354069.6_Silent_p.P114P|PID1_ENST00000392055.3_Silent_p.P81P|PID1_ENST00000482518.2_Intron	p.P112P	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	675	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	114			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	ENST00000354069.6	37	c.336A>T																																																																																					0.532	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		10	88	10	88	---	---	---	---
KLHL18	23276	broad.mit.edu	37	3	47376266	47376266	+	Silent	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:47376266C>A	ENST00000232766.5	+	6	875	c.855C>A	c.(853-855)tcC>tcA	p.S285S	KLHL18_ENST00000455924.2_Silent_p.S173S	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	285								p.S285S(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GCTGCACATCCATCGCTGGAC	0.582																																						ENST00000232766.5																			1	Substitution - coding silent(1)	p.S285S(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(853-855)tcC>tcA		kelch-like family member 18							50.0	47.0	48.0					3																	47376266		2203	4300	6503	SO:0001819	synonymous_variant	23276							g.chr3:47376266C>A	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.855C>A	3.37:g.47376266C>A						KLHL18_ENST00000455924.2_Silent_p.S173S	p.S285S	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	6	875	+		Acute lymphoblastic leukemia(5;0.164)	285					A8K612|Q7Z3E8|Q8N125	Silent	SNP	ENST00000232766.5	37	c.855C>A	CCDS33749.1																																																																																				0.582	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		3	54	3	54	---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99568295	99568295	+	Missense_Mutation	SNP	T	T	G	rs559963545	byFrequency	TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:99568295T>G	ENST00000354552.3	-	5	2695	c.2225A>C	c.(2224-2226)gAt>gCt	p.D742A	CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.D318A|FILIP1L_ENST00000383694.2_Missense_Mutation_p.D502A|FILIP1L_ENST00000471562.1_Missense_Mutation_p.D502A|FILIP1L_ENST00000331335.5_Missense_Mutation_p.D742A|FILIP1L_ENST00000476723.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	742						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D742A(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GACTGAGTGATCTCCCTGGAG	0.408																																						ENST00000331335.5																			1	Substitution - Missense(1)	p.D742A(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2224-2226)gAt>gCt		filamin A interacting protein 1-like							179.0	158.0	165.0					3																	99568295		1863	4102	5965	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99568295T>G		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2225A>C	3.37:g.99568295T>G	ENSP00000346560:p.Asp742Ala					FILIP1L_ENST00000383694.2_Missense_Mutation_p.D502A|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.D502A|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.D318A|FILIP1L_ENST00000354552.3_Missense_Mutation_p.D742A	p.D742A	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	2695	-			742					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.2225A>C	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422214	0.43020	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.51071	1.01;0.74;0.72;1.01;0.72;0.78	5.62	4.45	0.53987	.	0.000000	0.51477	D	0.000097	T	0.60183	0.2249	L	0.55990	1.75	0.46298	D	0.998974	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.922	T	0.58200	-0.7678	10	0.42905	T	0.14	-13.5327	11.3492	0.49577	0.0:0.0711:0.0:0.9289	.	742;742	Q4L180-2;Q4L180	.;FIL1L_HUMAN	A	742;318;502;742;502;488;502	ENSP00000346560:D742A;ENSP00000417774:D318A;ENSP00000419642:D502A;ENSP00000327880:D742A;ENSP00000373192:D502A;ENSP00000419874:D502A	ENSP00000327880:D742A	D	-	2	0	FILIP1L	101050985	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.077000	0.64419	0.958000	0.37956	0.383000	0.25322	GAT		0.408	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		10	393	10	393	---	---	---	---
BCL6	604	broad.mit.edu	37	3	187447645	187447645	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:187447645C>T	ENST00000406870.2	-	5	914	c.548G>A	c.(547-549)aGc>aAc	p.S183N	RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.S183N|BCL6_ENST00000450123.2_Missense_Mutation_p.S183N	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	183					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S183N(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACTGTACAGGCTGGGGGCAAA	0.602			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		1	Substitution - Missense(1)	p.S183N(1)	prostate(1)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(547-549)aGc>aAc		B-cell CLL/lymphoma 6							65.0	64.0	64.0					3																	187447645		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447645C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.548G>A	3.37:g.187447645C>T	ENSP00000384371:p.Ser183Asn					BCL6_ENST00000450123.2_Missense_Mutation_p.S183N|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.S183N|RP11-211G3.3_ENST00000437407.1_Intron	p.S183N	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	914	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		183					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.548G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	2.867	-0.234892	0.05983	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.07444	3.19;3.19;3.21	5.47	3.62	0.41486	.	0.329105	0.42420	D	0.000705	T	0.03915	0.0110	N	0.08118	0	0.25257	N	0.989621	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.43114	-0.9411	10	0.12766	T	0.61	.	9.9457	0.41607	0.0:0.7776:0.1458:0.0766	.	183;183	B8PSA7;P41182	.;BCL6_HUMAN	N	183	ENSP00000384371:S183N;ENSP00000232014:S183N;ENSP00000413122:S183N	ENSP00000232014:S183N	S	-	2	0	BCL6	188930339	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	2.862000	0.48388	1.434000	0.47414	0.556000	0.70494	AGC		0.602	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		30	38	30	38	---	---	---	---
PLG	5340	broad.mit.edu	37	6	161139389	161139389	+	Missense_Mutation	SNP	G	G	A	rs371746732		TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr6:161139389G>A	ENST00000308192.9	+	8	914	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	284	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R284H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAAACTATCGCGGGAATGTG	0.493																																						ENST00000308192.9																			1	Substitution - Missense(1)	p.R284H(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(850-852)cGc>cAc		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						137.0	128.0	131.0					6																	161139389		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161139389G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.851G>A	6.37:g.161139389G>A	ENSP00000308938:p.Arg284His						p.R284H	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	8	914	+			284			Kringle 3.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.851G>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151594	0.78001	.	.	ENSG00000122194	ENST00000308192	T	0.69926	-0.44	5.21	3.41	0.39046	Kringle (4);Kringle-like fold (1);	0.238259	0.20776	U	0.085891	T	0.81870	0.4914	H	0.97186	3.955	0.39183	D	0.962827	D	0.89917	1.0	D	0.68765	0.96	D	0.84806	0.0787	10	0.87932	D	0	.	9.45	0.38721	0.0763:0.0:0.7805:0.1432	.	284	P00747	PLMN_HUMAN	H	284	ENSP00000308938:R284H	ENSP00000308938:R284H	R	+	2	0	PLG	161059379	0.839000	0.29477	0.006000	0.13384	0.100000	0.18952	4.588000	0.60999	0.684000	0.31448	0.591000	0.81541	CGC		0.493	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		40	170	40	170	---	---	---	---
INHBA	3624	broad.mit.edu	37	7	41739653	41739653	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:41739653A>T	ENST00000242208.4	-	2	566	c.320T>A	c.(319-321)aTt>aAt	p.I107N	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.I107N|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	107					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.I107N(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTCCTTCCAATGTCATCCTC	0.562										TSP Lung(11;0.080)																												ENST00000242208.4																			1	Substitution - Missense(1)	p.I107N(1)	prostate(1)	biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(319-321)aTt>aAt		inhibin, beta A							302.0	302.0	302.0					7																	41739653		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739653A>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.320T>A	7.37:g.41739653A>T	ENSP00000242208:p.Ile107Asn	TSP Lung(11;0.080)				INHBA_ENST00000442711.1_Missense_Mutation_p.I107N|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000415848.2_RNA	p.I107N	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			2	566	-			107					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.320T>A	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.537888	0.45176	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.64991	-0.13;-0.13	5.49	5.49	0.81192	Transforming growth factor-beta, N-terminal (1);	0.385893	0.28784	N	0.014141	T	0.48021	0.1477	N	0.14661	0.345	0.44595	D	0.997568	B	0.25007	0.116	B	0.30251	0.113	T	0.42515	-0.9447	10	0.27082	T	0.32	-14.0353	15.5949	0.76572	1.0:0.0:0.0:0.0	.	107	P08476	INHBA_HUMAN	N	107	ENSP00000242208:I107N;ENSP00000397197:I107N	ENSP00000242208:I107N	I	-	2	0	INHBA	41706178	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.152000	0.42272	2.083000	0.62718	0.533000	0.62120	ATT		0.562	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			19	758	19	758	---	---	---	---
ZKSCAN5	23660	broad.mit.edu	37	7	99110202	99110202	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:99110202C>G	ENST00000394170.2	+	3	792	c.541C>G	c.(541-543)Ctg>Gtg	p.L181V	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.L181V|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.L181V	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L181V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCCTCGTCTCCTGGAGGAAAA	0.587																																						ENST00000394170.2																			1	Substitution - Missense(1)	p.L181V(1)	prostate(1)	breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(541-543)Ctg>Gtg		zinc finger with KRAB and SCAN domains 5							76.0	67.0	70.0					7																	99110202		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99110202C>G	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.541C>G	7.37:g.99110202C>G	ENSP00000377725:p.Leu181Val					ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.L181V|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.L181V	p.L181V	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			3	792	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		181					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.541C>G	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.944935	0.53079	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.06218	3.33;3.33;3.33	5.19	4.3	0.51218	.	0.437153	0.17111	N	0.186636	T	0.02970	0.0088	N	0.08118	0	0.23221	N	0.998096	P;P	0.38395	0.629;0.455	B;B	0.37198	0.243;0.163	T	0.40608	-0.9554	10	0.08179	T	0.78	.	9.0539	0.36394	0.0:0.9037:0.0:0.0963	.	181;181	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	V	181	ENSP00000322872:L181V;ENSP00000392104:L181V;ENSP00000377725:L181V	ENSP00000322872:L181V	L	+	1	2	ZKSCAN5	98948138	0.804000	0.28969	0.944000	0.38274	0.959000	0.62525	1.254000	0.32897	2.881000	0.98747	0.650000	0.86243	CTG		0.587	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		20	35	20	35	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149526028	149526028	+	RNA	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:149526028G>A	ENST00000378016.2	+	0	15085							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTGCAGGGCGAGGAGATGGT	0.667																																						ENST00000378016.2																			0													SCO-spondin							42.0	50.0	48.0					7																	149526028		2061	4196	6257			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149526028G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149526028G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	15085	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	6	8	6	---	---	---	---
FANCG	2189	broad.mit.edu	37	9	35076446	35076446	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:35076446C>A	ENST00000378643.3	-	8	1550	c.1059G>T	c.(1057-1059)agG>agT	p.R353S	FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	353					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.R353S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTGTAGGCACCTGCTTGCTA	0.532			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000378643.3			yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Mis, N, F, S"""	"""Fanconi anemia, complementation group G"""			L		"""AML, leukemia"""			1	Substitution - Missense(1)	p.R353S(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28						c.(1057-1059)agG>agT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group G							159.0	119.0	133.0					9																	35076446		2203	4300	6503	SO:0001583	missense	2189				cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35076446C>A	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1059G>T	9.37:g.35076446C>A	ENSP00000367910:p.Arg353Ser					FANCG_ENST00000476212.1_Intron	p.R353S	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	1550	-			353						Missense_Mutation	SNP	ENST00000378643.3	37	c.1059G>T	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207928	0.39003	.	.	ENSG00000221829	ENST00000378643;ENST00000543657	T	0.17054	2.3	5.05	3.92	0.45320	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.33000	0.0848	L	0.56769	1.78	0.32284	N	0.567227	D	0.71674	0.998	D	0.78314	0.991	T	0.37220	-0.9715	9	0.51188	T	0.08	-7.1099	6.8382	0.23947	0.0:0.1063:0.0:0.8937	.	353	O15287	FANCG_HUMAN	S	353	ENSP00000367910:R353S	ENSP00000367910:R353S	R	-	3	2	FANCG	35066446	0.998000	0.40836	1.000000	0.80357	0.754000	0.42855	0.079000	0.14782	0.954000	0.37851	-0.471000	0.05019	AGG		0.532	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		9	105	9	105	---	---	---	---
SMC2	10592	broad.mit.edu	37	9	106889711	106889711	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:106889711G>A	ENST00000286398.7	+	20	3028	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N	SMC2_ENST00000374793.3_Missense_Mutation_p.D914N|SMC2_ENST00000303219.8_Missense_Mutation_p.D914N|SMC2_ENST00000374787.3_Missense_Mutation_p.D914N	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	914					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.D914N(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAAGGAATTAGACCACAACAT	0.363																																						ENST00000286398.7																			2	Substitution - Missense(2)	p.D914N(2)	prostate(2)	breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(2740-2742)Gac>Aac		structural maintenance of chromosomes 2							141.0	135.0	137.0					9																	106889711		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106889711G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2740G>A	9.37:g.106889711G>A	ENSP00000286398:p.Asp914Asn					SMC2_ENST00000374793.3_Missense_Mutation_p.D914N|SMC2_ENST00000374787.3_Missense_Mutation_p.D914N|SMC2_ENST00000303219.8_Missense_Mutation_p.D914N	p.D914N	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			20	3028	+			914					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.2740G>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563744	0.45694	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.84	4.93	0.64822	RecF/RecN/SMC (1);	0.092975	0.85682	D	0.000000	T	0.59662	0.2210	N	0.05124	-0.11	0.43994	D	0.996695	B	0.12013	0.005	B	0.15870	0.014	T	0.54057	-0.8350	10	0.25106	T	0.35	-9.8837	15.681	0.77367	0.0:0.1377:0.8623:0.0	.	914	O95347	SMC2_HUMAN	N	914	ENSP00000286398:D914N;ENSP00000363925:D914N;ENSP00000306152:D914N;ENSP00000363919:D914N	ENSP00000286398:D914N	D	+	1	0	SMC2	105929532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.080000	0.94040	1.455000	0.47813	-0.181000	0.13052	GAC		0.363	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			53	82	53	82	---	---	---	---
UBAC1	10422	broad.mit.edu	37	9	138837764	138837764	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:138837764G>C	ENST00000371756.3	-	6	841	c.624C>G	c.(622-624)aaC>aaG	p.N208K	UBAC1_ENST00000465873.1_5'Flank	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	208	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.N208K(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TGGTGGCTCTGTTCTCCGGAA	0.662																																					NSCLC(78;973 1398 27381 29552 42415)	ENST00000371756.3																			1	Substitution - Missense(1)	p.N208K(1)	prostate(1)	NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(622-624)aaC>aaG		UBA domain containing 1							56.0	52.0	53.0					9																	138837764		2203	4299	6502	SO:0001583	missense	10422					Golgi apparatus|plasma membrane	protein binding	g.chr9:138837764G>C	AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"""ubiquitin associated domain containing 1"""	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.624C>G	9.37:g.138837764G>C	ENSP00000360821:p.Asn208Lys						p.N208K	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)	6	841	-		Myeloproliferative disorder(178;0.0511)	208			UBA 1.		O75500|Q9UMW7	Missense_Mutation	SNP	ENST00000371756.3	37	c.624C>G	CCDS35177.1	.	.	.	.	.	.	.	.	.	.	G	6.623	0.483350	0.12581	.	.	ENSG00000130560	ENST00000371756	T	0.23754	1.89	5.36	3.48	0.39840	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.275451	0.50627	D	0.000101	T	0.20455	0.0492	L	0.54965	1.715	0.26792	N	0.969386	B	0.18968	0.032	B	0.24394	0.053	T	0.31364	-0.9946	10	0.06099	T	0.92	-16.5808	9.7491	0.40464	0.0738:0.0:0.7876:0.1386	.	208	Q9BSL1	UBAC1_HUMAN	K	208	ENSP00000360821:N208K	ENSP00000360821:N208K	N	-	3	2	UBAC1	137977585	1.000000	0.71417	0.886000	0.34754	0.753000	0.42808	3.136000	0.50554	1.239000	0.43787	-0.314000	0.08810	AAC		0.662	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	NM_016172		14	46	14	46	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89690802	89690802	+	Splice_Site	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:89690802G>A	ENST00000371953.3	+	4	1566		c.e4-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(9)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTCTTTTAGTTGTGCTGAA	0.303		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		56	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(9)	p.0?(37)|p.?(9)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)	prostate(17)|central_nervous_system(13)|skin(6)|lung(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CS002683	PTEN	S		c.e4-1		phosphatase and tensin homolog							70.0	66.0	67.0					10																	89690802		2202	4293	6495	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89690802G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.210-1G>A	10.37:g.89690802G>A		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)						NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1566	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37		CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493411	0.84962	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0185	0.97487	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89680782	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.332000	0.96446	2.809000	0.96659	0.467000	0.42956	.		0.303	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	32	23	32	23	---	---	---	---
CRTAC1	55118	broad.mit.edu	37	10	99642555	99642555	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:99642555C>A	ENST00000370597.3	-	13	2018	c.1663G>T	c.(1663-1665)Ggc>Tgc	p.G555C	CRTAC1_ENST00000370591.2_Missense_Mutation_p.G555C|CRTAC1_ENST00000298819.4_Intron|CRTAC1_ENST00000468549.1_5'UTR	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	555						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.G555C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ATGCAATGGCCATTTTCCTGC	0.577																																						ENST00000370597.3																			1	Substitution - Missense(1)	p.G555C(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1663-1665)Ggc>Tgc		cartilage acidic protein 1							123.0	93.0	103.0					10																	99642555		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99642555C>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1663G>T	10.37:g.99642555C>A	ENSP00000359629:p.Gly555Cys					CRTAC1_ENST00000298819.4_Intron|CRTAC1_ENST00000468549.1_5'UTR|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G555C	p.G555C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	13	2018	-		Colorectal(252;0.24)	555					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.1663G>T	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433195	0.83776	.	.	ENSG00000095713	ENST00000370597;ENST00000309155;ENST00000370591	D;D;D	0.88354	-1.58;-2.37;-2.37	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.93194	0.7832	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.93412	0.6769	10	0.54805	T	0.06	-31.5193	17.1667	0.86818	0.0:1.0:0.0:0.0	.	555;555	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	C	555;547;555	ENSP00000359629:G555C;ENSP00000310810:G547C;ENSP00000359623:G555C	ENSP00000310810:G547C	G	-	1	0	CRTAC1	99632545	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.773000	0.75006	2.356000	0.79943	0.462000	0.41574	GGC		0.577	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		17	33	17	33	---	---	---	---
ENTPD7	57089	broad.mit.edu	37	10	101455823	101455823	+	Silent	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:101455823C>T	ENST00000370489.4	+	9	1132	c.954C>T	c.(952-954)aaC>aaT	p.N318N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	318						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.N318N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TCGGAGGCAACTTTGCCCGGC	0.453																																						ENST00000370489.4																			1	Substitution - coding silent(1)	p.N318N(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18						c.(952-954)aaC>aaT		ectonucleoside triphosphate diphosphohydrolase 7							120.0	111.0	114.0					10																	101455823		2203	4300	6503	SO:0001819	synonymous_variant	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101455823C>T	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.954C>T	10.37:g.101455823C>T							p.N318N	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	9	1132	+		Colorectal(252;0.234)	318					B2RB83|B3KP21|D3DR64	Silent	SNP	ENST00000370489.4	37	c.954C>T	CCDS7480.1																																																																																				0.453	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		11	169	11	169	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20101630	20101630	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:20101630G>T	ENST00000396087.3	+	27	5467	c.5368G>T	c.(5368-5370)Gca>Tca	p.A1790S	NAV2_ENST00000533917.1_Missense_Mutation_p.A798S|NAV2_ENST00000396085.1_Missense_Mutation_p.A1734S|NAV2_ENST00000540292.1_Missense_Mutation_p.A1721S|NAV2_ENST00000527559.2_Missense_Mutation_p.A1719S|NAV2_ENST00000311043.8_Missense_Mutation_p.A798S|NAV2_ENST00000349880.4_Missense_Mutation_p.A1734S|NAV2_ENST00000360655.4_Missense_Mutation_p.A1670S	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1790					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.A1790S(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGCCCAGTCTGCAGACCTCCG	0.562																																						ENST00000396085.1																			1	Substitution - Missense(1)	p.A1790S(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(5200-5202)Gca>Tca		neuron navigator 2							51.0	49.0	49.0					11																	20101630		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20101630G>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5368G>T	11.37:g.20101630G>T	ENSP00000379396:p.Ala1790Ser					NAV2_ENST00000540292.1_Missense_Mutation_p.A1721S|NAV2_ENST00000360655.4_Missense_Mutation_p.A1670S|NAV2_ENST00000527559.2_Missense_Mutation_p.A1719S|NAV2_ENST00000349880.4_Missense_Mutation_p.A1734S|NAV2_ENST00000396087.3_Missense_Mutation_p.A1790S|NAV2_ENST00000311043.8_Missense_Mutation_p.A798S|NAV2_ENST00000533917.1_Missense_Mutation_p.A798S	p.A1734S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			25	5561	+			1790					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5200G>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611032	0.28712	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27;-3.27;-3.27;-3.27;-3.27;-3.27	5.39	-2.6	0.06190	.	0.657161	0.14629	N	0.307960	D	0.82742	0.5103	N	0.24115	0.695	0.09310	N	0.999999	B;B;B;B;B;B	0.27068	0.025;0.0;0.003;0.167;0.004;0.034	B;B;B;B;B;B	0.24394	0.013;0.001;0.004;0.053;0.007;0.036	T	0.70483	-0.4859	9	.	.	.	.	4.2711	0.10787	0.4881:0.0956:0.3197:0.0967	.	1734;1790;798;783;1734;1670	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	S	1670;1734;1734;1790;1719;1721;798;783;798;783	ENSP00000353871:A1670S;ENSP00000379394:A1734S;ENSP00000309577:A1734S;ENSP00000379396:A1790S;ENSP00000435395:A1719S;ENSP00000443489:A1721S;ENSP00000437316:A798S;ENSP00000437136:A783S;ENSP00000312169:A798S	.	A	+	1	0	NAV2	20058206	0.000000	0.05858	0.024000	0.17045	0.697000	0.40408	-0.864000	0.04254	-0.532000	0.06332	-0.262000	0.10625	GCA		0.562	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		13	39	13	39	---	---	---	---
TCN1	6947	broad.mit.edu	37	11	59633903	59633903	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:59633903A>G	ENST00000257264.3	-	1	145	c.41T>C	c.(40-42)cTg>cCg	p.L14P	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	14					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.L14P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAAGAAAACAGTAAGAGCCC	0.413																																						ENST00000257264.3																			1	Substitution - Missense(1)	p.L14P(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(40-42)cTg>cCg		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						98.0	109.0	105.0					11																	59633903		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59633903A>G	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.41T>C	11.37:g.59633903A>G	ENSP00000257264:p.Leu14Pro					TCN1_ENST00000532419.1_5'UTR	p.L14P	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			1	145	-		all_epithelial(135;0.198)	14					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.41T>C	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.317073	0.23908	.	.	ENSG00000134827	ENST00000257264	T	0.38401	1.14	4.95	3.82	0.43975	.	0.273612	0.24393	N	0.038905	T	0.35189	0.0923	L	0.60455	1.87	0.09310	N	0.999998	B	0.28552	0.215	B	0.33196	0.159	T	0.36817	-0.9732	10	0.87932	D	0	.	7.6952	0.28590	0.9025:0.0:0.0975:0.0	.	14	P20061	TCO1_HUMAN	P	14	ENSP00000257264:L14P	ENSP00000257264:L14P	L	-	2	0	TCN1	59390479	0.010000	0.17322	0.082000	0.20525	0.054000	0.15201	2.748000	0.47483	0.835000	0.34877	0.459000	0.35465	CTG		0.413	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		49	109	49	109	---	---	---	---
EML3	256364	broad.mit.edu	37	11	62378665	62378665	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:62378665G>A	ENST00000394773.2	-	3	653	c.346C>T	c.(346-348)Cct>Tct	p.P116S	ROM1_ENST00000534093.1_5'Flank|ROM1_ENST00000278833.3_5'Flank|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000529309.1_Missense_Mutation_p.P116S|EML3_ENST00000278845.4_Missense_Mutation_p.P117S|EML3_ENST00000494176.2_Missense_Mutation_p.P88S	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	116						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.P116S(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTCCCGCTAGGCTCTTCGCTG	0.697																																						ENST00000394773.2																			1	Substitution - Missense(1)	p.P116S(1)	prostate(1)	biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(346-348)Cct>Tct		echinoderm microtubule associated protein like 3							11.0	14.0	13.0					11																	62378665		2170	4262	6432	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62378665G>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.346C>T	11.37:g.62378665G>A	ENSP00000378254:p.Pro116Ser					EML3_ENST00000278845.4_Missense_Mutation_p.P117S|EML3_ENST00000529309.1_Missense_Mutation_p.P116S|EML3_ENST00000494176.2_Missense_Mutation_p.P88S	p.P116S	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			3	653	-			116					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.346C>T	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.56|16.56	3.156976|3.156976	0.57259|0.57259	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394776|ENST00000394773;ENST00000278845;ENST00000494176;ENST00000529309;ENST00000466886;ENST00000466671;ENST00000419857	.|T;T;T;T	.|0.29142	.|1.78;1.74;1.58;1.68	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.832619	.|0.10633	.|N	.|0.651923	T|T	0.42177|0.42177	0.1191|0.1191	N|N	0.24115|0.24115	0.695|0.695	0.39196|0.39196	D|D	0.963067|0.963067	.|P;B;D;P	.|0.63880	.|0.827;0.427;0.993;0.827	.|B;B;D;B	.|0.70227	.|0.439;0.133;0.968;0.439	T|T	0.13019|0.13019	-1.0525|-1.0525	5|10	.|0.36615	.|T	.|0.2	-17.4407|-17.4407	14.2488|14.2488	0.66007|0.66007	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|116;116;117;88	.|Q32P44-2;Q32P44;B7WPE2;G3V1D0	.|.;EMAL3_HUMAN;.;.	V|S	110|116;117;88;116;87;88;87	.|ENSP00000378254:P116S;ENSP00000278845:P117S;ENSP00000435064:P88S;ENSP00000434513:P116S	.|ENSP00000278845:P117S	A|P	-|-	2|1	0|0	EML3|EML3	62135241|62135241	0.960000|0.960000	0.32886|0.32886	0.872000|0.872000	0.34217|0.34217	0.242000|0.242000	0.25591|0.25591	1.693000|1.693000	0.37742|0.37742	2.515000|2.515000	0.84797|0.84797	0.462000|0.462000	0.41574|0.41574	GCC|CCT		0.697	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		4	30	4	30	---	---	---	---
MAML2	84441	broad.mit.edu	37	11	95712225	95712225	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:95712225G>A	ENST00000524717.1	-	5	4642	c.3358C>T	c.(3358-3360)Cct>Tct	p.P1120S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1120					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.P1120S(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTTAGGGCAGGGCCCATGTTA	0.423			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	1	Substitution - Missense(1)	p.P1120S(1)	prostate(1)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3358-3360)Cct>Tct		mastermind-like 2 (Drosophila)							133.0	128.0	130.0					11																	95712225		1896	4121	6017	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95712225G>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.3358C>T	11.37:g.95712225G>A	ENSP00000434552:p.Pro1120Ser						p.P1120S	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			5	4642	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	1120					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.3358C>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270939	0.80469	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.52754	0.65;0.65	5.72	5.72	0.89469	.	0.000000	0.56097	D	0.000023	T	0.65270	0.2675	L	0.54323	1.7	0.51012	D	0.999906	D	0.89917	1.0	D	0.85130	0.997	T	0.60845	-0.7182	10	0.38643	T	0.18	-17.1511	18.0534	0.89356	0.0:0.0:1.0:0.0	.	1120	Q8IZL2	MAML2_HUMAN	S	1120	ENSP00000434552:P1120S;ENSP00000412394:P1120S	ENSP00000412394:P1120S	P	-	1	0	MAML2	95351873	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.523000	0.90576	2.699000	0.92147	0.561000	0.74099	CCT		0.423	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			27	133	27	133	---	---	---	---
SIDT2	51092	broad.mit.edu	37	11	117052139	117052139	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:117052139G>C	ENST00000324225.4	+	2	722	c.191G>C	c.(190-192)gGc>gCc	p.G64A	SIDT2_ENST00000431081.2_Missense_Mutation_p.G64A	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	64					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.G64A(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CAGACAGAGGGCGTGCGTGTG	0.597											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324225.4																			1	Substitution - Missense(1)	p.G64A(1)	prostate(1)	NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(190-192)gGc>gCc		SID1 transmembrane family, member 2							102.0	97.0	99.0					11																	117052139		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117052139G>C	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.191G>C	11.37:g.117052139G>C	ENSP00000314023:p.Gly64Ala		OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1478	SIDT2_ENST00000431081.2_Missense_Mutation_p.G64A	p.G64A	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	2	722	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	64					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.191G>C	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345623	0.61073	.	.	ENSG00000149577	ENST00000324225;ENST00000532960;ENST00000525347;ENST00000278951;ENST00000431081	T;T;T;T	0.42900	2.45;0.96;2.44;2.44	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	L	0.31926	0.97	0.80722	D	1	P;D;B;B	0.89917	0.486;1.0;0.354;0.354	B;D;B;B	0.91635	0.389;0.999;0.11;0.217	T	0.30327	-0.9982	10	0.02654	T	1	-16.4839	18.4103	0.90549	0.0:0.0:1.0:0.0	.	64;64;64;64	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	A	64	ENSP00000314023:G64A;ENSP00000431176:G64A;ENSP00000278951:G64A;ENSP00000399635:G64A	ENSP00000278951:G64A	G	+	2	0	SIDT2	116557349	1.000000	0.71417	0.953000	0.39169	0.943000	0.58893	7.312000	0.78968	2.572000	0.86782	0.655000	0.94253	GGC		0.597	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		5	42	5	42	---	---	---	---
CCDC15	80071	broad.mit.edu	37	11	124857794	124857794	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:124857794C>T	ENST00000344762.5	+	8	1931	c.1672C>T	c.(1672-1674)Cag>Tag	p.Q558*	CCDC15_ENST00000529051.1_Nonsense_Mutation_p.Q558*	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	558						centrosome (GO:0005813)		p.Q558*(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACCCAAATGTCAGGACCAGGA	0.433																																						ENST00000529051.1																			2	Substitution - Nonsense(2)	p.Q558*(2)	prostate(2)	central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1672-1674)Cag>Tag		coiled-coil domain containing 15							213.0	203.0	206.0					11																	124857794		1815	4071	5886	SO:0001587	stop_gained	80071					centrosome		g.chr11:124857794C>T	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1672C>T	11.37:g.124857794C>T	ENSP00000341684:p.Gln558*					CCDC15_ENST00000344762.5_Nonsense_Mutation_p.Q558*	p.Q558*			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1931	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	558					Q9H8U7	Nonsense_Mutation	SNP	ENST00000344762.5	37	c.1672C>T	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	C	40	7.926128	0.98565	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	.	.	.	3.99	2.01	0.26516	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	4.6183	0.12437	0.0:0.6035:0.1853:0.2112	.	.	.	.	X	558	.	ENSP00000341684:Q558X	Q	+	1	0	CCDC15	124363004	0.001000	0.12720	0.007000	0.13788	0.713000	0.41058	0.495000	0.22483	0.421000	0.25980	0.501000	0.49751	CAG		0.433	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		16	481	16	481	---	---	---	---
FGFR1OP2	26127	broad.mit.edu	37	12	27107226	27107226	+	Splice_Site	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:27107226G>T	ENST00000229395.3	+	2	477	c.135G>T	c.(133-135)caG>caT	p.Q45H	FGFR1OP2_ENST00000327214.5_Splice_Site_p.Q45H|FGFR1OP2_ENST00000546072.1_Splice_Site_p.Q45H	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	45					wound healing (GO:0042060)	cytosol (GO:0005829)		p.Q45H(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					CCATGAAACAGGTTTGATTTT	0.348																																						ENST00000229395.3																			1	Substitution - Missense(1)	p.Q45H(1)	prostate(1)	cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8						c.(133-135)caG>caT		FGFR1 oncogene partner 2							88.0	76.0	80.0					12																	27107226		2203	4300	6503	SO:0001630	splice_region_variant	26127					cytoplasm		g.chr12:27107226G>T	AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.135+1G>T	12.37:g.27107226G>T						FGFR1OP2_ENST00000327214.5_Splice_Site_p.Q45H|FGFR1OP2_ENST00000546072.1_Splice_Site_p.Q45H	p.Q45H	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN			2	477	+	Colorectal(261;0.0847)		45					Q6R955|Q8N5L7|Q9P034|Q9UFK8	Splice_Site	SNP	ENST00000229395.3	37	c.135G>T	CCDS8709.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941363	0.92526	.	.	ENSG00000111790	ENST00000229395;ENST00000544111;ENST00000546072;ENST00000327214	.	.	.	5.35	5.35	0.76521	.	0.051118	0.85682	D	0.000000	T	0.76652	0.4017	L	0.55990	1.75	0.80722	D	1	P;D;D	0.60160	0.899;0.987;0.986	P;D;P	0.70016	0.648;0.967;0.794	T	0.77094	-0.2715	9	0.72032	D	0.01	0.3652	19.9476	0.97189	0.0:0.0:1.0:0.0	.	45;45;45	Q9NVK5-2;Q9NVK5;Q9NVK5-3	.;FGOP2_HUMAN;.	H	45	.	ENSP00000229395:Q45H	Q	+	3	2	FGFR1OP2	26998493	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.417000	0.97391	2.890000	0.99128	0.585000	0.79938	CAG		0.348	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	NM_015633	Missense_Mutation	3	65	3	65	---	---	---	---
ZNF641	121274	broad.mit.edu	37	12	48737263	48737263	+	Silent	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:48737263C>A	ENST00000544117.2	-	6	1518	c.810G>T	c.(808-810)ggG>ggT	p.G270G	ZNF641_ENST00000301042.3_Silent_p.G270G|ZNF641_ENST00000448928.3_Silent_p.G247G|ZNF641_ENST00000547026.1_Silent_p.G256G			Q96N77	ZN641_HUMAN	zinc finger protein 641	270					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|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.G270G(1)		breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CAAACTGTTTCCCACACTGGG	0.527																																						ENST00000544117.2																			1	Substitution - coding silent(1)	p.G270G(1)	prostate(1)	breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(808-810)ggG>ggT		zinc finger protein 641							84.0	81.0	82.0					12																	48737263		2203	4300	6503	SO:0001819	synonymous_variant	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48737263C>A	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.810G>T	12.37:g.48737263C>A						ZNF641_ENST00000448928.3_Silent_p.G247G|ZNF641_ENST00000301042.3_Silent_p.G270G|ZNF641_ENST00000547026.1_Silent_p.G256G	p.G270G			Q96N77	ZN641_HUMAN			6	1518	-			270					B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Silent	SNP	ENST00000544117.2	37	c.810G>T	CCDS8763.1																																																																																				0.527	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		6	123	6	123	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120615277	120615277	+	Silent	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:120615277G>A	ENST00000300648.6	-	9	823	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	271					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.L271L(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACTCCTCAGTAAGGACTTC	0.448																																						ENST00000300648.6																			1	Substitution - coding silent(1)	p.L271L(1)	prostate(1)	NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(811-813)Ctg>Ttg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							91.0	85.0	87.0					12																	120615277		1921	4129	6050	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120615277G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.811C>T	12.37:g.120615277G>A							p.L271L	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN			9	823	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		271					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.811C>T	CCDS41847.1																																																																																				0.448	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			19	66	19	66	---	---	---	---
METTL3	56339	broad.mit.edu	37	14	21971365	21971365	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr14:21971365A>C	ENST00000298717.4	-	3	825	c.674T>G	c.(673-675)aTa>aGa	p.I225R	METTL3_ENST00000538267.1_Nonstop_Mutation_p.*154E	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	225					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.I225R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AAGGCTCTCTATCTCCAGATC	0.443																																						ENST00000538267.1																			1	Substitution - Missense(1)	p.I225R(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(460-462)Tag>Gag		methyltransferase like 3							182.0	174.0	177.0					14																	21971365		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21971365A>C	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.674T>G	14.37:g.21971365A>C	ENSP00000298717:p.Ile225Arg					METTL3_ENST00000298717.4_Missense_Mutation_p.I225R	p.*154E			Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	4	576	-	all_cancers(95;0.000628)		0					O14736|Q86V05|Q9HB32	Nonstop_Mutation	SNP	ENST00000298717.4	37	c.460T>G	CCDS32044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.86|17.86	3.492951|3.492951	0.64074|0.64074	.|.	.|.	ENSG00000165819|ENSG00000165819	ENST00000298717|ENST00000538267	T|.	0.28895|.	1.59|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.59702|.	0.2213|.	M|M	0.69823|0.69823	2.125|2.125	0.18873|0.18873	N|N	0.999986|0.999986	D;D;D|.	0.76494|.	0.999;0.999;0.992|.	D;D;P|.	0.85130|.	0.996;0.997;0.901|.	T|.	0.55114|.	-0.8191|.	10|.	0.56958|.	D|.	0.05|.	-13.3899|-13.3899	14.4818|14.4818	0.67587|0.67587	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	225;225;225|.	B4E2F6;B4DTN4;Q86U44|.	.;.;MTA70_HUMAN|.	R|E	225|154	ENSP00000298717:I225R|.	ENSP00000298717:I225R|.	I|X	-|-	2|1	0|0	METTL3|METTL3	21041205|21041205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.024000|8.024000	0.88770|0.88770	2.257000|2.257000	0.74773|0.74773	0.460000|0.460000	0.39030|0.39030	ATA|TAG		0.443	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		97	210	97	210	---	---	---	---
SPSB3	90864	broad.mit.edu	37	16	1831441	1831441	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr16:1831441A>G	ENST00000566339.1	-	2	374	c.44T>C	c.(43-45)cTg>cCg	p.L15P	NUBP2_ENST00000568706.1_5'Flank|NUBP2_ENST00000262302.9_5'Flank|SPSB3_ENST00000301717.4_Missense_Mutation_p.L15P|NUBP2_ENST00000565134.1_5'Flank|NUBP2_ENST00000565987.1_5'Flank|NUBP2_ENST00000543305.1_5'Flank	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	15					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.L15P(1)		endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GGCTGCACTCAGGACGAAGTG	0.617																																						ENST00000566339.1																			1	Substitution - Missense(1)	p.L15P(1)	prostate(1)	endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(43-45)cTg>cCg		splA/ryanodine receptor domain and SOCS box containing 3							29.0	30.0	30.0					16																	1831441		2194	4298	6492	SO:0001583	missense	90864				intracellular signal transduction			g.chr16:1831441A>G		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.44T>C	16.37:g.1831441A>G	ENSP00000457206:p.Leu15Pro					SPSB3_ENST00000301717.4_Missense_Mutation_p.L15P	p.L15P	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			2	374	-			15					D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	c.44T>C	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947468	0.73672	.	.	ENSG00000162032	ENST00000301717	T	0.50277	0.75	3.88	3.88	0.44766	.	0.102768	0.41712	D	0.000840	T	0.62332	0.2419	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.80764	0.994;0.768	T	0.65467	-0.6161	10	0.66056	D	0.02	-13.7685	11.9378	0.52884	1.0:0.0:0.0:0.0	.	15;15	B7Z7H9;Q6PJ21	.;SPSB3_HUMAN	P	15	ENSP00000301717:L15P	ENSP00000301717:L15P	L	-	2	0	SPSB3	1771442	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	5.403000	0.66338	1.764000	0.52075	0.379000	0.24179	CTG		0.617	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		16	19	16	19	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57756742	57756742	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr16:57756742A>G	ENST00000360716.3	+	11	1618	c.1397A>G	c.(1396-1398)gAg>gGg	p.E466G	CCDC135_ENST00000394337.4_Missense_Mutation_p.E466G|CCDC135_ENST00000336825.8_Missense_Mutation_p.E401G			Q8IY82	CC135_HUMAN		466					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.E466G(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCACCTATGAGGACTTGCAG	0.597																																						ENST00000360716.3																			1	Substitution - Missense(1)	p.E466G(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1396-1398)gAg>gGg		coiled-coil domain containing 135							77.0	73.0	74.0					16																	57756742		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57756742A>G																												ENST00000360716.3:c.1397A>G	16.37:g.57756742A>G	ENSP00000353942:p.Glu466Gly					CCDC135_ENST00000336825.8_Missense_Mutation_p.E401G|CCDC135_ENST00000394337.4_Missense_Mutation_p.E466G	p.E466G			Q8IY82	CC135_HUMAN			11	1618	+			466					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1397A>G	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	.	7.827	0.719116	0.15372	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.11385	2.94;2.78;2.94	5.22	1.55	0.23275	.	0.709944	0.14535	N	0.313637	T	0.15782	0.0380	M	0.80183	2.485	0.21445	N	0.999682	P;P	0.47350	0.894;0.682	P;B	0.46585	0.521;0.167	T	0.13656	-1.0501	10	0.30078	T	0.28	-12.1208	3.3753	0.07235	0.3728:0.4138:0.0794:0.134	.	401;466	Q8IY82-2;Q8IY82	.;CC135_HUMAN	G	466;401;466	ENSP00000377869:E466G;ENSP00000338938:E401G;ENSP00000353942:E466G	ENSP00000338938:E401G	E	+	2	0	CCDC135	56314243	0.986000	0.35501	0.137000	0.22149	0.086000	0.17979	2.995000	0.49441	-0.012000	0.14223	0.528000	0.53228	GAG		0.597	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			3	75	3	75	---	---	---	---
AFG3L2	10939	broad.mit.edu	37	18	12340252	12340252	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr18:12340252G>T	ENST00000269143.3	-	15	2159	c.1928C>A	c.(1927-1929)aCa>aAa	p.T643K		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	643					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.T643K(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGCACCAGTTGTAATTCTTCC	0.393																																						ENST00000269143.3																			1	Substitution - Missense(1)	p.T643K(1)	prostate(1)	NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(1927-1929)aCa>aAa		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						148.0	143.0	144.0					18																	12340252		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12340252G>T	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1928C>A	18.37:g.12340252G>T	ENSP00000269143:p.Thr643Lys						p.T643K	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			15	2159	-			643					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.1928C>A	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222289	0.95139	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.88046	-2.33	5.65	5.65	0.86999	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.96738	0.8935	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97840	1.0268	10	0.87932	D	0	-12.4141	20.0887	0.97806	0.0:0.0:1.0:0.0	.	643	Q9Y4W6	AFG32_HUMAN	K	643;658	ENSP00000269143:T643K	ENSP00000269143:T643K	T	-	2	0	AFG3L2	12330252	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	9.813000	0.99286	2.825000	0.97269	0.655000	0.94253	ACA		0.393	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		10	272	10	272	---	---	---	---
SLC5A5	6528	broad.mit.edu	37	19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T	rs201835225	byFrequency	TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.R569W(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602													C|||	3	0.000599042	0.0	0.0014	5008	,	,		15988	0.0		0.001	False		,,,				2504	0.001				Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			1	Substitution - Missense(1)	p.R569W(1)	prostate(1)	NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1705-1707)Cgg>Tgg		solute carrier family 5 (sodium/iodide cotransporter), member 5		C	TRP/ARG	0,4406		0,0,2203	116.0	112.0	113.0		1705	1.2	0.0	19		113	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC5A5	NM_000453.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	569/644	18001748	1,13005	2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:18001748C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1705C>T	19.37:g.18001748C>T	ENSP00000222248:p.Arg569Trp						p.R569W	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			14	2052	+			569					O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1705C>T	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066877	0.36470	0.0	1.16E-4	ENSG00000105641	ENST00000222248	D	0.87029	-2.2	4.71	1.18	0.20946	.	22.923100	0.00166	N	0.000010	D	0.85026	0.5603	L	0.59436	1.845	0.09310	N	1	D	0.56521	0.976	B	0.42653	0.394	T	0.70561	-0.4838	10	0.54805	T	0.06	.	5.1415	0.14961	0.5241:0.3652:0.0:0.1107	.	569	Q92911	SC5A5_HUMAN	W	569	ENSP00000222248:R569W	ENSP00000222248:R569W	R	+	1	2	SLC5A5	17862748	0.002000	0.14202	0.002000	0.10522	0.663000	0.39108	0.255000	0.18333	0.148000	0.19059	0.491000	0.48974	CGG		0.602	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			76	154	76	154	---	---	---	---
FTCD	10841	broad.mit.edu	37	21	47570139	47570139	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr21:47570139G>T	ENST00000291670.5	-	7	843	c.800C>A	c.(799-801)tCa>tAa	p.S267*	FTCD_ENST00000359679.2_Nonsense_Mutation_p.S267*|FTCD_ENST00000355384.2_Nonsense_Mutation_p.S267*|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Nonsense_Mutation_p.S267*|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Nonsense_Mutation_p.S267*|FTCD_ENST00000397748.1_Nonsense_Mutation_p.S267*	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	267	Formiminotransferase C-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)	p.S267*(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CACCAGCTGTGAGCCCACCAC	0.672																																						ENST00000397748.1																			1	Substitution - Nonsense(1)	p.S267*(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(799-801)tCa>tAa		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						14.0	16.0	16.0					21																	47570139		2194	4288	6482	SO:0001587	stop_gained	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47570139G>T	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.800C>A	21.37:g.47570139G>T	ENSP00000291670:p.Ser267*					FTCD_ENST00000355384.2_Nonsense_Mutation_p.S267*|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Nonsense_Mutation_p.S267*|FTCD_ENST00000291670.5_Nonsense_Mutation_p.S267*|FTCD_ENST00000397746.3_Nonsense_Mutation_p.S267*|FTCD_ENST00000359679.2_Nonsense_Mutation_p.S267*	p.S267*			O95954	FTCD_HUMAN		Colorectal(79;0.235)	7	843	-	Breast(49;0.214)		267			Formiminotransferase C-subdomain (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Nonsense_Mutation	SNP	ENST00000291670.5	37	c.800C>A	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	G	37	6.548092	0.97654	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	.	.	.	4.57	4.57	0.56435	.	0.060486	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4025	0.87464	0.0:0.0:1.0:0.0	.	.	.	.	X	267	.	ENSP00000291670:S267X	S	-	2	0	FTCD	46394567	1.000000	0.71417	0.958000	0.39756	0.821000	0.46438	7.628000	0.83189	2.110000	0.64415	0.650000	0.86243	TCA		0.672	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		3	18	3	18	---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18842131	18842131	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chrX:18842131A>G	ENST00000361511.4	+	17	2086	c.1592A>G	c.(1591-1593)aAc>aGc	p.N531S	PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000544635.1_Missense_Mutation_p.N466S|PPEF1_ENST00000349874.5_Missense_Mutation_p.N469S|PPEF1_ENST00000359763.6_Missense_Mutation_p.N478S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	531					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.N531S(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AATCTGGTAAACATAGACCAA	0.423																																						ENST00000361511.4																			1	Substitution - Missense(1)	p.N531S(1)	prostate(1)	breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1591-1593)aAc>aGc		protein phosphatase, EF-hand calcium binding domain 1							182.0	157.0	165.0					X																	18842131		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18842131A>G	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1592A>G	X.37:g.18842131A>G	ENSP00000354871:p.Asn531Ser					PPEF1_ENST00000359763.6_Missense_Mutation_p.N478S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.N469S|PPEF1_ENST00000544635.1_Missense_Mutation_p.N466S	p.N531S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			17	2086	+	Hepatocellular(33;0.183)		531					A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.1592A>G	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	A	2.790	-0.251466	0.05867	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.58	-4.88	0.03113	.	1.770780	0.02624	N	0.103504	T	0.18467	0.0443	N	0.12182	0.205	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.10450	0.005;0.001;0.003	T	0.15321	-1.0441	10	0.07175	T	0.84	-0.0287	2.8424	0.05533	0.2258:0.4488:0.1386:0.1868	.	469;531;503	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	S	531;478;469;466	ENSP00000354871:N531S;ENSP00000352806:N478S;ENSP00000341892:N469S;ENSP00000441289:N466S	ENSP00000341892:N469S	N	+	2	0	PPEF1	18752052	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.092000	0.15066	-0.867000	0.04063	-1.500000	0.00958	AAC		0.423	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		97	51	97	51	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140751730	140751739	+	Frame_Shift_Del	DEL	AGGTGGTGGC	AGGTGGTGGC	-	rs573101178		TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr5:140751730_140751739delAGGTGGTGGC	ENST00000576222.1	+	1	1900_1909	c.1769_1778delAGGTGGTGGC	c.(1768-1779)aaggtggtggcgfs	p.KVVA590fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	590	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGACCAAGGTGGTGGCGGTGGACGCA	0.657																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1768-1779)aaggtggtggcgfs																																						SO:0001589	frameshift_variant	56102							g.chr5:140751730_140751739delAGGTGGTGGC	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1769_1778delAGGTGGTGGC	5.37:g.140751730_140751739delAGGTGGTGGC	ENSP00000461862:p.Lys590fs					PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.KVVA590fs	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1900_1909	+								A7E229|Q9Y5C7	Frame_Shift_Del	DEL	ENST00000576222.1	37	c.1769_1778delAGGTGGTGGC	CCDS58980.1																																																																																				0.657	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		20	81	20	81	---	---	---	---
B3GNT4	79369	broad.mit.edu	37	12	122691205	122691209	+	Frame_Shift_Del	DEL	CTATC	CTATC	-	rs373034990	byFrequency	TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:122691205_122691209delCTATC	ENST00000324189.4	+	3	763_767	c.407_411delCTATC	c.(406-411)gctatcfs	p.AI136fs	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Del_p.AI111fs|B3GNT4_ENST00000535274.1_Frame_Shift_Del_p.AI111fs	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	136					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.I137M(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CGACGTGCGGCTATCCGCAGCACGT	0.629																																						ENST00000535274.1																			1	Substitution - Missense(1)	p.I137M(1)	NS(1)	NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(331-336)gctatcfs		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4																																				SO:0001589	frameshift_variant	79369				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr12:122691205_122691209delCTATC	AB049586	CCDS9227.1	12q24	2013-02-19						"""Beta 3-glycosyltransferases"""	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.407_411delCTATC	12.37:g.122691205_122691209delCTATC	ENSP00000319636:p.Ala136fs					B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Del_p.AI111fs|B3GNT4_ENST00000324189.4_Frame_Shift_Del_p.AI136fs	p.AI111fs			Q9C0J1	B3GN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)	1	2059_2063	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		136					Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Frame_Shift_Del	DEL	ENST00000324189.4	37	c.332_336delCTATC	CCDS9227.1																																																																																				0.629	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		9	169	9	169	---	---	---	---
B3GNT4	79369	broad.mit.edu	37	12	122691220	122691221	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:122691220_122691221insCT	ENST00000324189.4	+	3	778_779	c.422_423insCT	c.(421-426)tggggcfs	p.WG141fs	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Ins_p.WG116fs|B3GNT4_ENST00000535274.1_Frame_Shift_Ins_p.WG116fs	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	141					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CGCAGCACGTGGGGCAGGGTGG	0.644																																						ENST00000535274.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(346-351)tggggcfs		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4																																				SO:0001589	frameshift_variant	79369				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr12:122691220_122691221insCT	AB049586	CCDS9227.1	12q24	2013-02-19						"""Beta 3-glycosyltransferases"""	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		Exception_encountered	12.37:g.122691220_122691221insCT	ENSP00000319636:p.Trp141fs					B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Ins_p.WG116fs|B3GNT4_ENST00000324189.4_Frame_Shift_Ins_p.WG141fs	p.WG116fs			Q9C0J1	B3GN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)	1	2074_2075	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		141					Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Frame_Shift_Ins	INS	ENST00000324189.4	37	c.347_348insCT	CCDS9227.1																																																																																				0.644	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		22	131	22	131	---	---	---	---
