#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NOD2	64127	broad.mit.edu	37	16	50757249	50757249	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr16:50757249G>A	ENST00000300589.2	+	9	2941	c.2836G>A	c.(2836-2838)Gcc>Acc	p.A946T		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	946					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGGTGCCCAAGCCTTGGCACT	0.507																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(2836-2838)Gcc>Acc		nucleotide-binding oligomerization domain containing 2							150.0	117.0	128.0					16																	50757249		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50757249G>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2836G>A	16.37:g.50757249G>A	ENSP00000300589:p.Ala946Thr		Somatic					p.A946T	NM_022162.1	NP_071445.1	WXS	Illumina GAIIx	Phase_I	Q9HC29	NOD2_HUMAN			9	2941	+		all_cancers(37;0.0156)	946					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.2836G>A	CCDS10746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.035405|4.035405	0.75617|0.75617	.|.	.|.	ENSG00000167207|ENSG00000167207	ENST00000526417;ENST00000300589;ENST00000431240|ENST00000534057	T|.	0.55413|.	0.52|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.078127|.	0.51477|.	D|.	0.000094|.	T|T	0.79125|0.79125	0.4393|0.4393	M|M	0.84773|0.84773	2.715|2.715	0.47065|0.47065	D|D	0.999301|0.999301	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.997;0.999|.	T|T	0.80710|0.80710	-0.1261|-0.1261	10|5	0.40728|.	T|.	0.16|.	.|.	15.4739|15.4739	0.75461|0.75461	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	919;946|.	Q9HC29-2;Q9HC29|.	.;NOD2_HUMAN|.	T|N	919;946;86|157	ENSP00000300589:A946T|.	ENSP00000300589:A946T|.	A|S	+|+	1|2	0|0	NOD2|NOD2	49314750|49314750	0.999000|0.999000	0.42202|0.42202	0.951000|0.951000	0.38953|0.38953	0.334000|0.334000	0.28698|0.28698	3.732000|3.732000	0.55021|0.55021	2.732000|2.732000	0.93576|0.93576	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.507	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		10	17	0	0	0	1	0	10	17				
COL9A2	1298	broad.mit.edu	37	1	40771434	40771434	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:40771434G>A	ENST00000372748.3	-	21	1156	c.1060C>T	c.(1060-1062)Ccg>Tcg	p.P354S	COL9A2_ENST00000466267.1_5'Flank	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	354	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TGCGGGCCCGGCTCACCCTGC	0.602																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(1060-1062)Ccg>Tcg		collagen, type IX, alpha 2							40.0	42.0	41.0					1																	40771434		2203	4300	6503	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40771434G>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1060C>T	1.37:g.40771434G>A	ENSP00000361834:p.Pro354Ser		Somatic					p.P354S	NM_001852.3	NP_001843.1	WXS	Illumina GAIIx	Phase_I	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		21	1156	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	354			Triple-helical region 3 (COL3).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.1060C>T	CCDS450.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866352	0.32977	.	.	ENSG00000049089	ENST00000372748	D	0.92965	-3.14	5.82	5.82	0.92795	.	0.106109	0.64402	D	0.000003	D	0.94241	0.8151	L	0.60067	1.865	0.53688	D	0.999973	D	0.61080	0.989	P	0.60117	0.869	D	0.92703	0.6176	10	0.33141	T	0.24	.	17.5892	0.87991	0.0:0.0:1.0:0.0	.	354	Q14055	CO9A2_HUMAN	S	354	ENSP00000361834:P354S	ENSP00000361834:P354S	P	-	1	0	COL9A2	40544021	0.996000	0.38824	0.998000	0.56505	0.283000	0.27025	2.259000	0.43259	2.767000	0.95098	0.655000	0.94253	CCG		0.602	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		3	33	0	0	0	1	0	3	33				
IL18R1	8809	broad.mit.edu	37	2	102998134	102998134	+	Missense_Mutation	SNP	T	T	C	rs56076776		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr2:102998134T>C	ENST00000409599.1	+	7	1036	c.680T>C	c.(679-681)gTg>gCg	p.V227A	IL18R1_ENST00000233957.1_Missense_Mutation_p.V227A			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	227	Ig-like C2-type 3.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CATGTTGCAGTGGAATTAGGT	0.343																																						ENST00000409599.1																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(679-681)gTg>gCg		interleukin 18 receptor 1							111.0	103.0	106.0					2																	102998134		2203	4300	6503	SO:0001583	missense	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:102998134T>C	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.680T>C	2.37:g.102998134T>C	ENSP00000387211:p.Val227Ala		Somatic				IL18R1_ENST00000233957.1_Missense_Mutation_p.V227A	p.V227A			WXS	Illumina GAIIx	Phase_I	Q13478	IL18R_HUMAN			7	1036	+			227			Ig-like C2-type 3.		B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	c.680T>C	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.928888	0.34002	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.16457	2.34;2.34;2.34	5.03	3.85	0.44370	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.254304	0.27996	N	0.017020	T	0.18087	0.0434	M	0.66506	2.035	0.80722	D	1	B;B	0.33171	0.4;0.4	B;B	0.34873	0.191;0.191	T	0.02505	-1.1149	10	0.30854	T	0.27	.	7.8067	0.29206	0.0:0.1002:0.0:0.8998	.	227;227	B7ZKV7;Q13478	.;IL18R_HUMAN	A	227	ENSP00000386663:V227A;ENSP00000387211:V227A;ENSP00000233957:V227A	ENSP00000233957:V227A	V	+	2	0	IL18R1	102364566	1.000000	0.71417	0.995000	0.50966	0.350000	0.29205	2.040000	0.41203	2.017000	0.59298	0.528000	0.53228	GTG		0.343	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		13	17	0	0	0	1	0	13	17				
STYXL1	51657	broad.mit.edu	37	7	75625885	75625885	+	Silent	SNP	G	G	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:75625885G>A	ENST00000248600.1	-	9	1185	c.843C>T	c.(841-843)aaC>aaT	p.N281N	STYXL1_ENST00000340062.5_Silent_p.N185N|STYXL1_ENST00000359697.3_Silent_p.N281N|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Silent_p.N281N|TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	281	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GACACATGTTGTTTTTGCACT	0.478																																						ENST00000248600.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(841-843)aaC>aaT		serine/threonine/tyrosine interacting-like 1							164.0	133.0	143.0					7																	75625885		2203	4300	6503	SO:0001819	synonymous_variant	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75625885G>A	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.843C>T	7.37:g.75625885G>A			Somatic				STYXL1_ENST00000431581.1_Silent_p.N281N|STYXL1_ENST00000340062.5_Silent_p.N185N|STYXL1_ENST00000359697.3_Silent_p.N281N|STYXL1_ENST00000360591.3_3'UTR	p.N281N	NM_016086.2	NP_057170.1	WXS	Illumina GAIIx	Phase_I	Q9Y6J8	STYL1_HUMAN			9	1185	-			281			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Silent	SNP	ENST00000248600.1	37	c.843C>T	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502381	0.44455	.	.	ENSG00000127952	ENST00000404050;ENST00000454618	.	.	.	4.96	-0.315	0.12746	.	1.082260	0.07045	N	0.830932	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8894	1.5846	0.02641	0.2395:0.2577:0.3712:0.1316	.	.	.	.	X	244;199	.	ENSP00000385904:Q244X	Q	-	1	0	STYXL1	75463821	0.796000	0.28864	0.296000	0.24974	0.946000	0.59487	0.947000	0.29082	-0.130000	0.11599	0.561000	0.74099	CAA		0.478	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		31	28	0	0	0	1	0	31	28				
KIAA1109	84162	broad.mit.edu	37	4	123275053	123275053	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr4:123275053C>G	ENST00000264501.4	+	82	14559	c.14186C>G	c.(14185-14187)gCt>gGt	p.A4729G	KIAA1109_ENST00000388738.3_Missense_Mutation_p.A4729G			Q2LD37	K1109_HUMAN	KIAA1109	4729					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCATGTGGTGCTTTGGAAAGT	0.383																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(14185-14187)gCt>gGt		KIAA1109							98.0	91.0	93.0					4																	123275053		1856	4100	5956	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123275053C>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.14186C>G	4.37:g.123275053C>G	ENSP00000264501:p.Ala4729Gly		Somatic				KIAA1109_ENST00000388738.3_Missense_Mutation_p.A4729G	p.A4729G			WXS	Illumina GAIIx	Phase_I	Q2LD37	K1109_HUMAN			82	14559	+			4729					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.14186C>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001660|4.001660	0.74932|0.74932	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755|ENST00000306802	T;T;T|.	0.34072|.	2.36;2.36;1.38|.	6.04|6.04	6.04|6.04	0.98038|0.98038	Fragile site-associated protein, C-terminal (1);|.	0.225686|.	0.44688|.	D|.	0.000431|.	T|T	0.74137|0.74137	0.3677|0.3677	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.996;0.999|.	D;D|.	0.83275|.	0.99;0.996|.	T|T	0.68762|0.68762	-0.5323|-0.5323	10|5	0.33141|.	T|.	0.24|.	.|.	20.5891|20.5891	0.99427|0.99427	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4728;4729|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	G|V	4729;4729;1398;330|1105	ENSP00000264501:A4729G;ENSP00000373390:A4729G;ENSP00000410874:A1398G|.	ENSP00000264501:A4729G|.	A|L	+|+	2|1	0|0	KIAA1109|KIAA1109	123494503|123494503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.876000|2.876000	0.98609|0.98609	0.650000|0.650000	0.86243|0.86243	GCT|CTT		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		18	28	0	0	0	1	0	18	28				
NCAM1	4684	broad.mit.edu	37	11	113102955	113102955	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr11:113102955C>T	ENST00000533760.1	+	10	1519	c.920C>T	c.(919-921)aCc>aTc	p.T307I	NCAM1_ENST00000316851.7_Missense_Mutation_p.T425I|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.T434I	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	435					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GTGAACATCACCTGCGAGGTA	0.512																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1273-1275)aCc>aTc		neural cell adhesion molecule 1							65.0	66.0	65.0					11																	113102955		1978	4173	6151	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102955C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.920C>T	11.37:g.113102955C>T	ENSP00000473281:p.Thr307Ile		Somatic				NCAM1_ENST00000533760.1_Missense_Mutation_p.T307I|NCAM1_ENST00000401611.2_Missense_Mutation_p.T434I|NCAM1_ENST00000397957.4_3'UTR	p.T425I	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	WXS	Illumina GAIIx	Phase_I	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	10	1274	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	435			Ig-like C2-type 5.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.1274C>T		.	.	.	.	.	.	.	.	.	.	C	24.4	4.531194	0.85706	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.69040	-0.37;-0.37	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.060472	0.64402	U	0.000004	D	0.83547	0.5278	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.76575	0.984;0.97;0.982;0.988	D	0.85038	0.0921	9	0.87932	D	0	-29.2533	19.7829	0.96424	0.0:1.0:0.0:0.0	.	435;425;435;425	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	I	307;434;425	ENSP00000384055:T434I;ENSP00000318472:T425I	ENSP00000318472:T425I	T	+	2	0	NCAM1	112608165	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.991000	0.63883	2.758000	0.94735	0.460000	0.39030	ACC		0.512	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		11	17	0	0	0	1	0	11	17				
MAPKBP1	23005	broad.mit.edu	37	15	42117611	42117611	+	Missense_Mutation	SNP	C	C	T	rs533499391		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr15:42117611C>T	ENST00000456763.2	+	32	4718	c.4522C>T	c.(4522-4524)Cgg>Tgg	p.R1508W	PLA2G4B_ENST00000542534.2_5'Flank|JMJD7-PLA2G4B_ENST00000342159.4_5'Flank|JMJD7_ENST00000397299.4_5'Flank|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1385W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1341W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R1225W|JMJD7_ENST00000408047.1_5'Flank|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R1502W|JMJD7-PLA2G4B_ENST00000382448.4_5'Flank|RP11-23P13.4_ENST00000512295.1_RNA|RP11-23P13.4_ENST00000510176.1_RNA	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1508										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGCCGTGGAACGGCGTATGGA	0.587													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19087	0.0		0.0	False		,,,				2504	0.0					ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(4504-4506)Cgg>Tgg		mitogen-activated protein kinase binding protein 1							30.0	29.0	30.0					15																	42117611		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42117611C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4522C>T	15.37:g.42117611C>T	ENSP00000393099:p.Arg1508Trp		Somatic				RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R1225W|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1385W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1341W|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R1508W	p.R1502W	NM_014994.2	NP_055809.2	WXS	Illumina GAIIx	Phase_I	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	31	4790	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1508					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.4504C>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	17.86	3.492570	0.64074	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.63096	0.28;0.31;-0.02;0.33;0.14	4.64	3.68	0.42216	.	0.281258	0.30800	N	0.008860	T	0.75079	0.3801	M	0.67397	2.05	0.30984	N	0.72215	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.986;1.0;1.0	P;P;P;P;D;D	0.87578	0.781;0.855;0.763;0.636;0.969;0.998	T	0.75619	-0.3255	10	0.87932	D	0	-5.3019	12.1831	0.54223	0.3021:0.6979:0.0:0.0	.	1341;1383;1341;1225;1508;1502	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	W	1502;1385;1341;1508;1225	ENSP00000397570:R1502W;ENSP00000221214:R1385W;ENSP00000260357:R1341W;ENSP00000393099:R1508W;ENSP00000426154:R1225W	ENSP00000221214:R1385W	R	+	1	2	MAPKBP1	39904903	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	1.579000	0.36536	2.409000	0.81822	0.655000	0.94253	CGG		0.587	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		24	4	0	0	0	1	0	24	4				
FAM71F1	84691	broad.mit.edu	37	7	128363345	128363345	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:128363345C>T	ENST00000315184.5	+	4	835	c.782C>T	c.(781-783)gCc>gTc	p.A261V	FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V|FAM71F1_ENST00000469348.1_3'UTR	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	261								p.A261V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAGATTTTTGCCGACTTACAC	0.502																																						ENST00000315184.5																			1	Substitution - Missense(1)	p.A261V(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(781-783)gCc>gTc		family with sequence similarity 71, member F1							118.0	116.0	117.0					7																	128363345		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128363345C>T	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.782C>T	7.37:g.128363345C>T	ENSP00000326652:p.Ala261Val		Somatic				FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V|FAM71F1_ENST00000469348.1_3'UTR	p.A261V	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	WXS	Illumina GAIIx	Phase_I	Q96KD3	F71F1_HUMAN			4	835	+			261					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.782C>T	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717581	0.48622	.	.	ENSG00000135248	ENST00000485070;ENST00000315184;ENST00000466842	T;T;T	0.24151	1.87;3.23;1.92	5.2	3.36	0.38483	.	0.643829	0.14692	N	0.304119	T	0.17365	0.0417	L	0.33485	1.01	0.26152	N	0.980124	B;B;B;B;B	0.18310	0.011;0.01;0.003;0.002;0.027	B;B;B;B;B	0.15052	0.012;0.006;0.004;0.002;0.006	T	0.17992	-1.0351	10	0.30854	T	0.27	-2.5683	6.5261	0.22303	0.1782:0.7313:0.0:0.0905	.	153;261;261;261;162	B4DY15;F8WC62;Q96KD3-2;Q96KD3;Q8NA48	.;.;.;F71F1_HUMAN;.	V	162;261;117	ENSP00000418192:A162V;ENSP00000326652:A261V;ENSP00000417930:A117V	ENSP00000326652:A261V	A	+	2	0	FAM71F1	128150581	0.133000	0.22466	0.998000	0.56505	0.995000	0.86356	0.071000	0.14594	0.862000	0.35528	0.555000	0.69702	GCC		0.502	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		4	82	0	0	0	1	0	4	82				
PTBP2	58155	broad.mit.edu	37	1	97278911	97278911	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:97278911C>G	ENST00000426398.2	+	14	1589	c.1546C>G	c.(1546-1548)Ctt>Gtt	p.L516V	PTBP2_ENST00000370197.1_Missense_Mutation_p.L522V|PTBP2_ENST00000609116.1_Missense_Mutation_p.L517V|PTBP2_ENST00000394184.3_Missense_Mutation_p.L533V|PTBP2_ENST00000370198.1_Missense_Mutation_p.L521V|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000541987.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	516	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TAATTATAACCTTGGAGAAAA	0.363																																						ENST00000609116.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(1549-1551)Ctt>Gtt		polypyrimidine tract binding protein 2							67.0	75.0	72.0					1																	97278911		2203	4300	6503	SO:0001583	missense	58155						nucleotide binding	g.chr1:97278911C>G	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1546C>G	1.37:g.97278911C>G	ENSP00000412788:p.Leu516Val		Somatic				PTBP2_ENST00000426398.2_Missense_Mutation_p.L516V|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Missense_Mutation_p.L521V|PTBP2_ENST00000394184.3_Missense_Mutation_p.L533V|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.L522V	p.L517V			WXS	Illumina GAIIx	Phase_I	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	14	1631	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)				RRM 4.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.1549C>G	CCDS754.1	.	.	.	.	.	.	.	.	.	.	C	8.228	0.804021	0.16467	.	.	ENSG00000117569	ENST00000236228;ENST00000543738;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184	T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.151416	0.64402	D	0.000020	T	0.13243	0.0321	M	0.83118	2.625	0.80722	D	1	B;B;B;B;B;B;B	0.16166	0.007;0.001;0.0;0.001;0.016;0.0;0.006	B;B;B;B;B;B;B	0.32211	0.098;0.008;0.0;0.002;0.142;0.037;0.038	T	0.01228	-1.1412	10	0.87932	D	0	-5.3849	14.5806	0.68288	0.1461:0.8539:0.0:0.0	.	525;533;189;521;516;517;522	B4DSU5;B4DSS8;B4DSI2;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;.;PTBP2_HUMAN;.;.	V	517;189;521;522;516;533	ENSP00000236228:L517V;ENSP00000359217:L521V;ENSP00000359216:L522V;ENSP00000412788:L516V;ENSP00000377738:L533V	ENSP00000236228:L517V	L	+	1	0	PTBP2	97051499	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.209000	0.51122	2.734000	0.93682	0.650000	0.86243	CTT		0.363	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			33	52	0	0	0	1	0	33	52				
HOXA4	3201	broad.mit.edu	37	7	27168859	27168859	+	Silent	SNP	A	A	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:27168859A>T	ENST00000360046.5	-	2	1013	c.948T>A	c.(946-948)gtT>gtA	p.V316V	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS2_ENST00000521687.1_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA4_ENST00000428284.2_Silent_p.V316V	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	316					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						tggaggagggaacgggtgtgg	0.572																																						ENST00000360046.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(946-948)gtT>gtA		homeobox A4							87.0	97.0	94.0					7																	27168859		2203	4300	6503	SO:0001819	synonymous_variant	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27168859A>T		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.948T>A	7.37:g.27168859A>T			Somatic				HOXA4_ENST00000428284.2_Silent_p.V316V|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_Intron	p.V316V	NM_002141.4	NP_002132.3	WXS	Illumina GAIIx	Phase_I	Q00056	HXA4_HUMAN			2	1013	-			316					A4D180|O43366	Silent	SNP	ENST00000360046.5	37	c.948T>A	CCDS5405.1	.	.	.	.	.	.	.	.	.	.	A	3.350	-0.132749	0.06711	.	.	ENSG00000197576	ENST00000511914	.	.	.	5.42	1.4	0.22301	.	.	.	.	.	T	0.43809	0.1264	.	.	.	0.36697	D	0.87992	.	.	.	.	.	.	T	0.40739	-0.9547	4	.	.	.	.	3.2044	0.06661	0.4841:0.0:0.334:0.1819	.	.	.	.	T	136	.	.	S	-	1	0	HOXA4	27135384	0.999000	0.42202	0.976000	0.42696	0.813000	0.45954	1.349000	0.33998	0.464000	0.27142	0.529000	0.55759	TCC		0.572	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			8	18	0	0	0	1	0	8	18				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A			Somatic				CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S	p.S151S	NM_001257387.1	NP_001244316.1	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	57	0	0	0	1	0	5	57				
TYRO3	7301	broad.mit.edu	37	15	41863798	41863798	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr15:41863798A>G	ENST00000263798.3	+	14	1890	c.1666A>G	c.(1666-1668)Atc>Gtc	p.I556V	TYRO3_ENST00000559066.1_Missense_Mutation_p.I511V	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	556	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCTAGCTGACATCATTGCCTC	0.502																																						ENST00000263798.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.(1666-1668)Atc>Gtc		TYRO3 protein tyrosine kinase							110.0	97.0	101.0					15																	41863798		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41863798A>G	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1666A>G	15.37:g.41863798A>G	ENSP00000263798:p.Ile556Val		Somatic				TYRO3_ENST00000559066.1_Missense_Mutation_p.I511V	p.I556V	NM_006293.3	NP_006284.2	WXS	Illumina GAIIx	Phase_I	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	14	1890	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	556			Protein kinase.		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.1666A>G	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.542258	0.65198	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	D	0.82344	-1.6	6.16	6.16	0.99307	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43260	D	0.000581	T	0.81842	0.4908	N	0.25485	0.75	0.80722	D	1	P	0.46578	0.88	P	0.52031	0.688	T	0.79787	-0.1656	10	0.27082	T	0.32	-20.8649	16.8061	0.85666	1.0:0.0:0.0:0.0	.	556	Q06418	TYRO3_HUMAN	V	488;556	ENSP00000263798:I556V	ENSP00000263798:I556V	I	+	1	0	TYRO3	39651090	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	ATC		0.502	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			46	30	0	0	0	1	0	46	30				
C1orf94	84970	broad.mit.edu	37	1	34663232	34663232	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:34663232T>C	ENST00000488417.1	+	2	847	c.727T>C	c.(727-729)Ttc>Ctc	p.F243L	C1orf94_ENST00000373374.3_Missense_Mutation_p.F53L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	243										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TCTGTCCCAGTTCCCACTGAA	0.547																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(727-729)Ttc>Ctc		chromosome 1 open reading frame 94							84.0	75.0	78.0					1																	34663232		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34663232T>C	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.727T>C	1.37:g.34663232T>C	ENSP00000435634:p.Phe243Leu		Somatic				C1orf94_ENST00000373374.3_Missense_Mutation_p.F53L	p.F243L	NM_001134734.1	NP_001128206.1	WXS	Illumina GAIIx	Phase_I	Q6P1W5	CA094_HUMAN			2	847	+		Myeloproliferative disorder(586;0.0393)	53					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.727T>C	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.961276	0.34565	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.23348	1.91;1.91	4.98	3.84	0.44239	.	0.100155	0.44483	D	0.000451	T	0.16471	0.0396	N	0.24115	0.695	0.34708	D	0.727476	B	0.11235	0.004	B	0.14578	0.011	T	0.09729	-1.0661	10	0.49607	T	0.09	-19.8309	8.0269	0.30442	0.181:0.0:0.0:0.819	.	243	Q6P1W5	CA094_HUMAN	L	53;243	ENSP00000362472:F53L;ENSP00000435634:F243L	ENSP00000362472:F53L	F	+	1	0	C1orf94	34435819	1.000000	0.71417	0.983000	0.44433	0.752000	0.42762	3.176000	0.50863	0.722000	0.32252	0.460000	0.39030	TTC		0.547	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		23	17	0	0	0	1	0	23	17				
SQSTM1	8878	broad.mit.edu	37	5	179251203	179251203	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr5:179251203C>T	ENST00000389805.4	+	4	731	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	SQSTM1_ENST00000402874.3_Missense_Mutation_p.L101F|SQSTM1_ENST00000376929.3_Missense_Mutation_p.L101F|SQSTM1_ENST00000360718.5_Missense_Mutation_p.L101F|SQSTM1_ENST00000510187.1_Missense_Mutation_p.L185F	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	185	Interaction with GABRR3. {ECO:0000250}.|LIM protein-binding (LB).				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCCGCTGGCTCCGGAAGGT	0.667																																						ENST00000389805.4																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(553-555)Ctc>Ttc		sequestosome 1							43.0	50.0	48.0					5																	179251203		2203	4300	6503	SO:0001583	missense	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179251203C>T	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.553C>T	5.37:g.179251203C>T	ENSP00000374455:p.Leu185Phe		Somatic				SQSTM1_ENST00000376929.3_Missense_Mutation_p.L101F|SQSTM1_ENST00000402874.3_Missense_Mutation_p.L101F|SQSTM1_ENST00000360718.5_Missense_Mutation_p.L101F|SQSTM1_ENST00000510187.1_Missense_Mutation_p.L185F	p.L185F	NM_003900.4	NP_003891.1	WXS	Illumina GAIIx	Phase_I	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	731	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	185			Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.553C>T	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	C	9.862	1.196529	0.22037	.	.	ENSG00000161011	ENST00000376929;ENST00000514093;ENST00000422245;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;T;T;D;D;T;D	0.82433	-1.6;1.91;1.45;-1.61;-1.6;2.44;-1.6	4.79	4.79	0.61399	.	0.200482	0.45867	D	0.000338	T	0.80093	0.4560	L	0.52364	1.645	0.45995	D	0.998802	B;B	0.22276	0.001;0.067	B;B	0.24269	0.004;0.052	T	0.77109	-0.2709	10	0.42905	T	0.14	-33.0609	16.3966	0.83607	0.0:1.0:0.0:0.0	.	185;185	Q13501;E7EMC7	SQSTM_HUMAN;.	F	101;101;101;185;41;101;185;101	ENSP00000366128:L101F;ENSP00000427308:L101F;ENSP00000394534:L101F;ENSP00000374455:L185F;ENSP00000385553:L101F;ENSP00000424477:L185F;ENSP00000353944:L101F	ENSP00000353944:L101F	L	+	1	0	SQSTM1	179183809	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	1.684000	0.37649	2.367000	0.80283	0.561000	0.74099	CTC		0.667	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			21	23	0	0	0	1	0	21	23				
BRCA2	675	broad.mit.edu	37	13	32945119	32945119	+	Missense_Mutation	SNP	A	A	T	rs544212043		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr13:32945119A>T	ENST00000380152.3	+	20	8747	c.8514A>T	c.(8512-8514)ttA>ttT	p.L2838F	BRCA2_ENST00000544455.1_Missense_Mutation_p.L2838F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2838					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CATCTGGATTATACATATTTC	0.373			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(8512-8514)ttA>ttT	Homologous recombination	breast cancer 2, early onset							84.0	82.0	82.0					13																	32945119		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32945119A>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8514A>T	13.37:g.32945119A>T	ENSP00000369497:p.Leu2838Phe	TCGA Ovarian(8;0.087)	Somatic				BRCA2_ENST00000380152.3_Missense_Mutation_p.L2838F	p.L2838F	NM_000059.3	NP_000050	WXS	Illumina GAIIx	Phase_I	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	20	8741	+		Lung SC(185;0.0262)	2838					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8514A>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.573775	0.28092	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.59364	0.27;0.27	5.1	-0.309	0.12769	Nucleic acid-binding, OB-fold-like (1);Tower (1);	0.828622	0.10977	N	0.613109	T	0.46464	0.1394	L	0.47716	1.5	0.25184	N	0.990187	B	0.25390	0.125	B	0.29598	0.104	T	0.37220	-0.9715	10	0.23891	T	0.37	.	7.4138	0.27032	0.2368:0.341:0.4222:0.0	.	2838	P51587	BRCA2_HUMAN	F	2838	ENSP00000369497:L2838F;ENSP00000439902:L2838F	ENSP00000369497:L2838F	L	+	3	2	BRCA2	31843119	0.000000	0.05858	0.985000	0.45067	0.996000	0.88848	-1.057000	0.03486	-0.071000	0.12886	0.397000	0.26171	TTA		0.373	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		16	28	0	0	0	1	0	16	28				
BZW2	28969	broad.mit.edu	37	7	16722416	16722416	+	Silent	SNP	A	A	G			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:16722416A>G	ENST00000433922.2	+	5	529	c.351A>G	c.(349-351)aaA>aaG	p.K117K	BZW2_ENST00000452975.2_Silent_p.K117K|BZW2_ENST00000258761.3_Silent_p.K117K|BZW2_ENST00000405202.1_Silent_p.K41K|BZW2_ENST00000432311.1_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	117					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TCTTCAATAAACTCATCAGGA	0.289																																						ENST00000433922.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(349-351)aaA>aaG		basic leucine zipper and W2 domains 2							46.0	49.0	48.0					7																	16722416		2200	4296	6496	SO:0001819	synonymous_variant	28969				cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16722416A>G	AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.351A>G	7.37:g.16722416A>G			Somatic				BZW2_ENST00000258761.3_Silent_p.K117K|BZW2_ENST00000432311.1_3'UTR|BZW2_ENST00000405202.1_Silent_p.K41K|BZW2_ENST00000452975.2_Silent_p.K117K	p.K117K	NM_001159767.1	NP_001153239.1	WXS	Illumina GAIIx	Phase_I	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	5	529	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)		117					A4D123|Q3B779|Q96JW5|Q9H3F7	Silent	SNP	ENST00000433922.2	37	c.351A>G	CCDS5362.1																																																																																				0.289	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038		6	34	0	0	0	1	0	6	34				
HEPN1	641654	broad.mit.edu	37	11	124789907	124789907	+	Silent	SNP	A	A	G			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr11:124789907A>G	ENST00000408930.5	+	1	762	c.261A>G	c.(259-261)ttA>ttG	p.L87L	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	87						cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		TTTTGATGTTAGTGTGATTAG	0.547																																						ENST00000408930.5																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(259-261)ttA>ttG		hepatocellular carcinoma, down-regulated 1							59.0	61.0	61.0					11																	124789907		1945	4142	6087	SO:0001819	synonymous_variant	641654					cytoplasm		g.chr11:124789907A>G	BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"""cancer susceptibility gene HEPN1"""	611641	"""HEPACAM opposite strand 1"""			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939	ENST00000408930.5:c.261A>G	11.37:g.124789907A>G			Somatic				HEPACAM_ENST00000298251.4_3'UTR	p.L87L	NM_001037558.2	NP_001032647.2	WXS	Illumina GAIIx	Phase_I	Q6WQI6	HEPN1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)	1	762	+	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	87						Silent	SNP	ENST00000408930.5	37	c.261A>G	CCDS41729.1																																																																																				0.547	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387129.1	NM_001037558		18	33	0	0	0	1	0	18	33				
GNAQ	2776	broad.mit.edu	37	9	80537256	80537256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr9:80537256C>A	ENST00000286548.4	-	2	364	c.142G>T	c.(142-144)Gga>Tga	p.G48*		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	48					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CCACTCTCTCCTGTCCCTGAA	0.448			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		0				NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(142-144)Gga>Tga		guanine nucleotide binding protein (G protein), q polypeptide							162.0	152.0	156.0					9																	80537256		2203	4300	6503	SO:0001587	stop_gained	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80537256C>A		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.142G>T	9.37:g.80537256C>A	ENSP00000286548:p.Gly48*		Somatic					p.G48*	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			2	364	-			48					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Nonsense_Mutation	SNP	ENST00000286548.4	37	c.142G>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	C	39	7.540765	0.98348	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	.	.	.	X	48;19	.	ENSP00000286548:G48X	G	-	1	0	GNAQ	79727076	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GGA		0.448	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		24	45	1	0	1.74197e-06	1	1.74197e-06	24	45				
FANCA	2175	broad.mit.edu	37	16	89882378	89882378	+	Silent	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr16:89882378C>T	ENST00000389301.3	-	2	126	c.96G>A	c.(94-96)agG>agA	p.R32R	FANCA_ENST00000568369.1_Silent_p.R32R|FANCA_ENST00000563673.1_Silent_p.R32R|FANCA_ENST00000389302.3_Silent_p.R32R|FANCA_ENST00000543736.1_Silent_p.R32R|FANCA_ENST00000534992.1_Silent_p.R32R	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	32					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TATATTTTTCCCTCTTGACCC	0.552			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(94-96)agG>agA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							112.0	99.0	104.0					16																	89882378		2198	4300	6498	SO:0001819	synonymous_variant	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89882378C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.96G>A	16.37:g.89882378C>T			Somatic				FANCA_ENST00000543736.1_Silent_p.R32R|FANCA_ENST00000389302.3_Silent_p.R32R|FANCA_ENST00000563673.1_Silent_p.R32R|FANCA_ENST00000568369.1_Silent_p.R32R|FANCA_ENST00000534992.1_Silent_p.R32R	p.R32R	NM_000135.2	NP_000126.2	WXS	Illumina GAIIx	Phase_I	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	2	126	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	32					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.96G>A	CCDS32515.1																																																																																				0.552	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			16	24	0	0	0	1	0	16	24				
C4orf17	84103	broad.mit.edu	37	4	100463085	100463085	+	Missense_Mutation	SNP	C	C	T	rs201530498		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr4:100463085C>T	ENST00000326581.4	+	9	1261	c.899C>T	c.(898-900)cCa>cTa	p.P300L		NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	300										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CACAAGCCTCCACTACTTATA	0.363																																						ENST00000326581.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18						c.(898-900)cCa>cTa		chromosome 4 open reading frame 17							32.0	35.0	34.0					4																	100463085		2202	4300	6502	SO:0001583	missense	84103							g.chr4:100463085C>T	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.899C>T	4.37:g.100463085C>T	ENSP00000322582:p.Pro300Leu		Somatic					p.P300L	NM_032149.2	NP_115525.2	WXS	Illumina GAIIx	Phase_I	Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	9	1261	+			300					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	37	c.899C>T	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	C	8.105	0.777448	0.16120	.	.	ENSG00000138813	ENST00000326581	T	0.21031	2.03	5.42	3.57	0.40892	.	0.254540	0.28544	N	0.014977	T	0.34279	0.0892	M	0.62723	1.935	0.09310	N	0.999999	D	0.63046	0.992	P	0.60068	0.868	T	0.06463	-1.0825	10	0.54805	T	0.06	-8.5037	7.4637	0.27310	0.1979:0.6184:0.1837:0.0	.	300	Q53FE4	CD017_HUMAN	L	300	ENSP00000322582:P300L	ENSP00000322582:P300L	P	+	2	0	C4orf17	100682108	0.002000	0.14202	0.025000	0.17156	0.009000	0.06853	0.571000	0.23669	1.451000	0.47736	0.650000	0.86243	CCA		0.363	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		14	16	0	0	0	1	0	14	16				
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	RNA	SNP	T	T	C	rs79284655	byFrequency	TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr16:32890639T>C	ENST00000330048.5	-	0	3159					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		ACCAGCGGCTTGTAGTACACA	0.627																																						ENST00000330048.5																			0																																																			0							g.chr16:32890639T>C	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890639T>C			Somatic						NR_003083.2		WXS	Illumina GAIIx	Phase_I					0	3159	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.627	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	11	0	0	0	1	0	4	11				
GNAQ	2776	broad.mit.edu	37	9	80537255	80537255	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr9:80537255C>A	ENST00000286548.4	-	2	365	c.143G>T	c.(142-144)gGa>gTa	p.G48V		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	48					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GCCACTCTCTCCTGTCCCTGA	0.448			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		0				NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(142-144)gGa>gTa		guanine nucleotide binding protein (G protein), q polypeptide							164.0	154.0	157.0					9																	80537255		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80537255C>A		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.143G>T	9.37:g.80537255C>A	ENSP00000286548:p.Gly48Val		Somatic					p.G48V	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			2	365	-			48					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.143G>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769355	0.90020	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	T;D	0.90133	-1.16;-2.62	5.87	5.87	0.94306	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	D	0.97714	0.9250	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98541	1.0632	10	0.72032	D	0.01	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	48	P50148	GNAQ_HUMAN	V	48;19	ENSP00000286548:G48V;ENSP00000391501:G19V	ENSP00000286548:G48V	G	-	2	0	GNAQ	79727075	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GGA		0.448	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		25	45	1	0	2.14196e-07	1	2.20889e-07	25	45				
ATP1B4	23439	broad.mit.edu	37	X	119513467	119513467	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chrX:119513467T>C	ENST00000218008.3	+	8	1109	c.1052T>C	c.(1051-1053)tTt>tCt	p.F351S	ATP1B4_ENST00000539306.1_Missense_Mutation_p.F308S|ATP1B4_ENST00000361319.3_Missense_Mutation_p.F347S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	351					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AGGGTAATCTTTACCCTGAAC	0.438																																						ENST00000218008.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1051-1053)tTt>tCt		ATPase, Na+/K+ transporting, beta 4 polypeptide							109.0	90.0	97.0					X																	119513467		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119513467T>C	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.1052T>C	X.37:g.119513467T>C	ENSP00000218008:p.Phe351Ser		Somatic				ATP1B4_ENST00000361319.3_Missense_Mutation_p.F347S|ATP1B4_ENST00000539306.1_Missense_Mutation_p.F308S	p.F351S	NM_001142447.2	NP_001135919.1	WXS	Illumina GAIIx	Phase_I	Q9UN42	AT1B4_HUMAN			8	1109	+			351					Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.1052T>C	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022110	0.75275	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.35973	1.28;1.28;1.28	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.73088	-0.4093	10	0.87932	D	0	-18.2946	13.4601	0.61223	0.0:0.0:0.0:1.0	.	308;316;351;347	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	S	351;347;308	ENSP00000218008:F351S;ENSP00000355346:F347S;ENSP00000443334:F308S	ENSP00000218008:F351S	F	+	2	0	ATP1B4	119397495	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.215000	0.77966	1.773000	0.52216	0.486000	0.48141	TTT		0.438	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		36	4	0	0	0	1	0	36	4				
DMXL1	1657	broad.mit.edu	37	5	118469695	118469695	+	Silent	SNP	C	C	T	rs141146454	byFrequency	TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr5:118469695C>T	ENST00000311085.8	+	12	2156	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D	DMXL1_ENST00000539542.1_Silent_p.D692D	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	692										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCACTGTTGACGTGGCATTTC	0.428													C|||	4	0.000798722	0.0	0.0014	5008	,	,		20704	0.0		0.002	False		,,,				2504	0.001					ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(2074-2076)gaC>gaT		Dmx-like 1		C		1,4403	2.1+/-5.4	0,1,2201	122.0	119.0	120.0		2076	-2.6	0.0	5	dbSNP_134	120	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	DMXL1	NM_005509.4		0,5,6497	TT,TC,CC		0.0465,0.0227,0.0384		692/3028	118469695	5,12999	2202	4300	6502	SO:0001819	synonymous_variant	1657							g.chr5:118469695C>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2076C>T	5.37:g.118469695C>T			Somatic				DMXL1_ENST00000539542.1_Silent_p.D692D	p.D692D	NM_005509.4	NP_005500.4	WXS	Illumina GAIIx	Phase_I	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	12	2156	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	692						Silent	SNP	ENST00000311085.8	37	c.2076C>T	CCDS4125.1																																																																																				0.428	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		46	58	0	0	0	1	0	46	58				
ST18	9705	broad.mit.edu	37	8	53030985	53030985	+	Silent	SNP	T	T	C			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr8:53030985T>C	ENST00000276480.7	-	24	3455	c.2772A>G	c.(2770-2772)gaA>gaG	p.E924E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	924					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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GCCTAATTTCTTCATCACTCT	0.308																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2770-2772)gaA>gaG		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							142.0	137.0	139.0					8																	53030985		2202	4297	6499	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53030985T>C	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2772A>G	8.37:g.53030985T>C			Somatic					p.E924E	NM_014682.2	NP_055497.1	WXS	Illumina GAIIx	Phase_I	O60284	ST18_HUMAN			24	3455	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	924					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.2772A>G	CCDS6149.1																																																																																				0.308	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			3	79	0	0	0	1	0	3	79				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu		Somatic				CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	p.K152E	NM_001257387.1	NP_001244316.1	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	57	0	0	0	1	0	5	57				
SULF2	55959	broad.mit.edu	37	20	46295178	46295178	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr20:46295178A>T	ENST00000359930.4	-	12	2482	c.1631T>A	c.(1630-1632)gTg>gAg	p.V544E	SULF2_ENST00000484875.1_Missense_Mutation_p.V544E|SULF2_ENST00000467815.1_Missense_Mutation_p.V544E|SULF2_ENST00000361612.4_Missense_Mutation_p.V544E	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	544					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCTGCCGTCCACCTCGATGGC	0.627																																						ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1630-1632)gTg>gAg		sulfatase 2							91.0	84.0	87.0					20																	46295178		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46295178A>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1631T>A	20.37:g.46295178A>T	ENSP00000353007:p.Val544Glu		Somatic				SULF2_ENST00000361612.4_Missense_Mutation_p.V544E|SULF2_ENST00000484875.1_Missense_Mutation_p.V544E|SULF2_ENST00000467815.1_Missense_Mutation_p.V544E	p.V544E	NM_018837.3	NP_061325.1	WXS	Illumina GAIIx	Phase_I	Q8IWU5	SULF2_HUMAN			12	2482	-			544					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1631T>A	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	A	6.367	0.435806	0.12104	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33	4.6	2.29	0.28610	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	1.329430	0.04621	N	0.401912	D	0.96929	0.8997	N	0.22421	0.69	0.32422	N	0.54928	B;B	0.28470	0.178;0.213	B;B	0.33339	0.048;0.162	D	0.93975	0.7253	10	0.41790	T	0.15	-3.2586	8.4626	0.32936	0.8315:0.0:0.1685:0.0	.	544;544	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	E	544	ENSP00000353007:V544E;ENSP00000418290:V544E;ENSP00000354662:V544E;ENSP00000418442:V544E	ENSP00000353007:V544E	V	-	2	0	SULF2	45728585	0.358000	0.24947	0.271000	0.24616	0.036000	0.12997	1.856000	0.39389	0.272000	0.22027	-0.400000	0.06385	GTG		0.627	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		27	41	0	0	0	1	0	27	41				
FOXF2	2295	broad.mit.edu	37	6	1391338	1391338	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr6:1391338C>T	ENST00000259806.1	+	1	1270	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	386					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CCAGAACGCTCGCGAGGACCT	0.677																																						ENST00000259806.1																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(1156-1158)Cgc>Tgc		forkhead box F2							18.0	17.0	17.0					6																	1391338		2166	4236	6402	SO:0001583	missense	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1391338C>T	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.1156C>T	6.37:g.1391338C>T	ENSP00000259806:p.Arg386Cys		Somatic					p.R386C	NM_001452.1	NP_001443.1	WXS	Illumina GAIIx	Phase_I	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	1270	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	386					Q5TGJ1|Q9UQ85	Missense_Mutation	SNP	ENST00000259806.1	37	c.1156C>T	CCDS4472.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222901	0.58668	.	.	ENSG00000137273	ENST00000259806	D	0.93189	-3.18	4.58	4.58	0.56647	.	0.177694	0.34268	N	0.004119	D	0.93903	0.8049	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	P	0.57846	0.828	D	0.94263	0.7504	10	0.62326	D	0.03	.	16.1463	0.81575	0.0:1.0:0.0:0.0	.	386	Q12947	FOXF2_HUMAN	C	386	ENSP00000259806:R386C	ENSP00000259806:R386C	R	+	1	0	FOXF2	1336337	0.995000	0.38212	0.984000	0.44739	0.907000	0.53573	0.598000	0.24074	2.375000	0.81037	0.561000	0.74099	CGC		0.677	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			10	9	0	0	0	1	0	10	9				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G			Somatic				LRRC37A4P_ENST00000579913.1_RNA				WXS	Illumina GAIIx	Phase_I					0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	42	0	0	0	1	0	3	42				
C1orf86	199990	broad.mit.edu	37	1	2125233	2125233	+	Silent	SNP	G	G	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:2125233G>A	ENST00000378546.4	-	3	339	c.315C>T	c.(313-315)caC>caT	p.H105H	C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000378545.3_Silent_p.H208H|C1orf86_ENST00000400919.3_De_novo_Start_OutOfFrame	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	105					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CTCCTGCCCCGTGAAGCAGCC	0.697																																						ENST00000400919.3																			0				central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4								chromosome 1 open reading frame 86							19.0	26.0	24.0					1																	2125233		2194	4292	6486	SO:0001819	synonymous_variant	199990							g.chr1:2125233G>A	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.315C>T	1.37:g.2125233G>A			Somatic				C1orf86_ENST00000378545.3_Silent_p.H208H|C1orf86_ENST00000378546.4_Silent_p.H105H|C1orf86_ENST00000487186.1_5'UTR		NM_001282671.1	NP_001269600.1	WXS	Illumina GAIIx	Phase_I	Q6NZ36	CA086_HUMAN		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	0	306	-	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)						A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Translation_Start_Site	SNP	ENST00000378546.4	37		CCDS38.2	.	.	.	.	.	.	.	.	.	.	G	8.403	0.842324	0.16963	.	.	ENSG00000162585	ENST00000378543;ENST00000420515	T	0.46451	0.87	3.47	-6.65	0.01795	.	.	.	.	.	T	0.25158	0.0611	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31251	-0.9950	8	0.87932	D	0	-0.0172	4.798	0.13282	0.5643:0.0:0.1606:0.2751	.	101	Q6ZRT9	.	M	60;105	ENSP00000367804:T60M	ENSP00000367804:T60M	T	-	2	0	C1orf86	2115093	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.202000	0.00275	-1.480000	0.01865	-0.521000	0.04368	ACG		0.697	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1	NM_182533		13	28	0	0	0	1	0	13	28				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C			Somatic				LRRC37A4P_ENST00000579913.1_RNA				WXS	Illumina GAIIx	Phase_I					0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	30	0	0	0	1	0	3	30				
BAP1	8314	broad.mit.edu	37	3	52437427	52437448	+	Splice_Site	DEL	CCCACCTGTCAGCGCCAGGGGA	CCCACCTGTCAGCGCCAGGGGA	-	rs374920141		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr3:52437427_52437448delCCCACCTGTCAGCGCCAGGGGA	ENST00000460680.1	-	13	2184_2201	c.1713_1730delTCCCCTGGCGCTGACAGGTGGG	c.(1711-1731)agtcccctggcgctgacaggt>agt	p.PLALTG572fs	BAP1_ENST00000296288.5_Splice_Site_p.PLALTG554fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P572fs*69(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCC	0.595			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1				Rec	yes		3	3p21.31-p21.2	8314	"""N, Mis, F, S, O"""	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		1	Deletion - Frameshift(1)	p.P572fs*69(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1711-1731)agtcccctggcgctgacaggt>agt		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																				SO:0001630	splice_region_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437427_52437448delCCCACCTGTCAGCGCCAGGGGA	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1729+1TCCCCTGGCGCTGACAGGTGGG>-	3.37:g.52437427_52437448delCCCACCTGTCAGCGCCAGGGGA			Somatic				BAP1_ENST00000296288.5_Splice_Site_p.PLALTG554fs	p.PLALTG572fs	NM_004656.2	NP_004647.1	WXS	Illumina GAIIx	Phase_I	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	2184_2201	-			572					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	DEL	ENST00000460680.1	37	c.1713_1730delTCCCCTGGCGCTGACAGGTGGG	CCDS2853.1																																																																																				0.595	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		Frame_Shift_Del	4	3						4	3	---	---	---	---
FAM86EP	348926	broad.mit.edu	37	4	3951121	3951122	+	RNA	INS	-	-	TGTC	rs35568143|rs71636744|rs370806504	byFrequency	TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr4:3951121_3951122insTGTC	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		cgttttcACTTTGTGCAGGAAG	0.515														4218	0.842252	0.9834	0.8357	5008	,	,		15370	0.8373		0.7694	False		,,,				2504	0.7362					ENST00000281228.8																			0																																																			0							g.chr4:3951121_3951122insTGTC			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3951121_3951122insTGTC			Somatic				FAM86EP_ENST00000313946.8_RNA				WXS	Illumina GAIIx	Phase_I					0	344	-									RNA	INS	ENST00000313946.8	37																																																																																						0.515	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			3	5						3	5	---	---	---	---
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-	rs372591893	byFrequency	TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)ggcdel	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729														461	0.0920527	0.0098	0.1124	5008	,	,		5525	0.002		0.2664	False		,,,				2504	0.1022					ENST00000361443.4																			2	Deletion - In frame(2)	p.G165delG(1)|p.G147delG(1)	central_nervous_system(2)	NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(439-441)ggcdel		Sp8 transcription factor			,	50,654		19,12,321					,	0.5	0.3			2	602,1424		217,168,628	no	coding,coding	SP8	NM_198956.2,NM_182700.4	,	236,180,949	A1A1,A1R,RR		29.7137,7.1023,23.8828	,	,		652,2078				SO:0001651	inframe_deletion	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824941_20824943delGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.439_441delGGC	7.37:g.20824950_20824952delGCC	ENSP00000354482:p.Gly147del		Somatic				SP8_ENST00000418710.2_In_Frame_Del_p.G165del	p.G147del	NM_198956.2	NP_945194.1	WXS	Illumina GAIIx	Phase_I	Q8IXZ3	SP8_HUMAN			3	676_678	-			147					Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	ENST00000361443.4	37	c.439_441delGGC	CCDS5372.1																																																																																				0.729	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			6	1						6	1	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32945125	32945135	+	Frame_Shift_Del	DEL	ATTTCGCAATG	ATTTCGCAATG	-	rs80359105|rs80359104|rs80359107|rs397507989|rs397507990		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr13:32945125_32945135delATTTCGCAATG	ENST00000380152.3	+	20	8753_8763	c.8520_8530delATTTCGCAATG	c.(8518-8532)atatttcgcaatgaafs	p.FRNE2841fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.FRNE2841fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2841					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.F2841I(2)|p.R2842C(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GATTATACATATTTCGCAATGAAAGAGAGGA	0.355			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		3	Substitution - Missense(3)	p.F2841I(2)|p.R2842C(1)	kidney(2)|oesophagus(1)	NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CD030579	BRCA2	D	rs80359107	c.(8518-8532)atatttcgcaatgaafs	Homologous recombination	breast cancer 2, early onset																																				SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32945125_32945135delATTTCGCAATG	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8520_8530delATTTCGCAATG	13.37:g.32945125_32945135delATTTCGCAATG	ENSP00000369497:p.Phe2841fs	TCGA Ovarian(8;0.087)	Somatic				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.FRNE2841fs	p.FRNE2841fs	NM_000059.3	NP_000050	WXS	Illumina GAIIx	Phase_I	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	20	8747_8757	+		Lung SC(185;0.0262)	2841					O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.8520_8530delATTTCGCAATG	CCDS9344.1																																																																																				0.355	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		17	36						17	36	---	---	---	---
