#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GATAD2B	57459	broad.mit.edu	37	1	153788813	153788813	+	Silent	SNP	G	G	C			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:153788813G>C	ENST00000368655.4	-	7	1395	c.1152C>G	c.(1150-1152)gcC>gcG	p.A384A		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	384	CR2; histone tail-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTCGCTATTGGCTGCACTAG	0.463																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(1150-1152)gcC>gcG		GATA zinc finger domain containing 2B							94.0	79.0	84.0					1																	153788813		2203	4300	6503	SO:0001819	synonymous_variant	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153788813G>C	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1152C>G	1.37:g.153788813G>C							p.A384A	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		7	1395	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		384			CR2.		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Silent	SNP	ENST00000368655.4	37	c.1152C>G	CCDS1054.1																																																																																				0.463	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		7	83	0	0	0	1	0	7	83				
NAV2	89797	broad.mit.edu	37	11	19914062	19914062	+	Missense_Mutation	SNP	C	C	T	rs200244681	byFrequency	TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:19914062C>T	ENST00000396087.3	+	7	1021	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	NAV2_ENST00000527559.2_Missense_Mutation_p.R237C|NAV2_ENST00000360655.4_Missense_Mutation_p.R221C|NAV2_ENST00000540292.1_Missense_Mutation_p.R239C|NAV2_ENST00000396085.1_Missense_Mutation_p.R285C|NAV2_ENST00000349880.4_Missense_Mutation_p.R285C	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	308					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.R308C(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TAACAACCGACGCAGCCAGAG	0.547													C|||	3	0.000599042	0.0015	0.0	5008	,	,		17547	0.0		0.001	False		,,,				2504	0.0					ENST00000396085.1																			1	Substitution - Missense(1)	p.R308C(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(853-855)Cgc>Tgc		neuron navigator 2		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4398		0,0,2199	101.0	91.0	95.0		661,853,853	5.9	1.0	11	dbSNP_134	95	2,8584	2.2+/-6.3	0,2,4291	yes	missense,missense,missense	NAV2	NM_001111018.1,NM_145117.4,NM_182964.5	180,180,180	0,2,6490	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	221/2366,285/2430,285/2433	19914062	2,12982	2199	4293	6492	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19914062C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.922C>T	11.37:g.19914062C>T	ENSP00000379396:p.Arg308Cys					NAV2_ENST00000360655.4_Missense_Mutation_p.R221C|NAV2_ENST00000527559.2_Missense_Mutation_p.R237C|NAV2_ENST00000349880.4_Missense_Mutation_p.R285C|NAV2_ENST00000540292.1_Missense_Mutation_p.R239C|NAV2_ENST00000396087.3_Missense_Mutation_p.R308C	p.R285C	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			6	1214	+			308					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.853C>T	CCDS58126.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	29.7	5.025602	0.93518	0.0	2.33E-4	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.49139	1.27;1.37;1.37;0.88;0.79;0.8	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000013	T	0.64483	0.2602	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61201	0.858;0.885	T	0.60929	-0.7165	9	.	.	.	.	18.1653	0.89723	0.0:1.0:0.0:0.0	.	285;221	Q8IVL1-3;Q8IVL1-4	.;.	C	221;285;285;308;237;239	ENSP00000353871:R221C;ENSP00000379394:R285C;ENSP00000309577:R285C;ENSP00000379396:R308C;ENSP00000435395:R237C;ENSP00000443489:R239C	.	R	+	1	0	NAV2	19870638	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	5.653000	0.67967	2.824000	0.97209	0.650000	0.86243	CGC		0.547	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		9	43	0	0	0	1	0	9	43				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	28	0	0	0	1	0	3	28				
SYNE1	23345	broad.mit.edu	37	6	152522967	152522967	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr6:152522967G>A	ENST00000367255.5	-	127	23738	c.23137C>T	c.(23137-23139)Cgt>Tgt	p.R7713C	SYNE1_ENST00000356820.4_Missense_Mutation_p.R2237C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7642C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7325C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7713C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7642C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7713					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTTGCAACGCATTTGTTCT	0.448										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(23137-23139)Cgt>Tgt		spectrin repeat containing, nuclear envelope 1							119.0	123.0	122.0					6																	152522967		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152522967G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23137C>T	6.37:g.152522967G>A	ENSP00000356224:p.Arg7713Cys	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.R7642C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7642C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2237C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7713C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7325C	p.R7713C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	127	23738	-		Ovarian(120;0.0955)	7713					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.23137C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923580	0.52653	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	6.08	5.22	0.72569	.	0.096332	0.46442	N	0.000296	T	0.30230	0.0758	M	0.81802	2.56	0.80722	D	1	B;B;B;B	0.32409	0.254;0.254;0.37;0.254	B;B;B;B	0.31547	0.062;0.062;0.132;0.062	T	0.28586	-1.0039	10	0.56958	D	0.05	.	15.4456	0.75228	0.0662:0.0:0.9338:0.0	.	7713;7713;7642;7642	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	C	7713;359;7642;7713;7642;7325;2237;635	ENSP00000356224:R7713C;ENSP00000356226:R359C;ENSP00000396024:R7642C;ENSP00000265368:R7713C;ENSP00000390975:R7642C;ENSP00000341887:R7325C;ENSP00000349276:R2237C;ENSP00000356220:R635C	ENSP00000265368:R7713C	R	-	1	0	SYNE1	152564660	1.000000	0.71417	0.998000	0.56505	0.724000	0.41520	2.715000	0.47210	1.594000	0.50039	0.591000	0.81541	CGT		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	73	0	0	0	1	0	4	73				
BAZ1B	9031	broad.mit.edu	37	7	72891714	72891714	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr7:72891714G>A	ENST00000339594.4	-	7	2415	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R693W	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	693					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGCAGAGCCGCACCAGCTCT	0.473																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2077-2079)Cgg>Tgg		bromodomain adjacent to zinc finger domain, 1B							103.0	97.0	99.0					7																	72891714		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72891714G>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2077C>T	7.37:g.72891714G>A	ENSP00000342434:p.Arg693Trp					BAZ1B_ENST00000404251.1_Missense_Mutation_p.R693W	p.R693W	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			7	2415	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	693					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.2077C>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413207	0.62511	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	D;D	0.84873	-1.91;-1.91	5.88	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93743	0.7052	10	0.87932	D	0	-17.9167	15.6623	0.77197	0.0:0.0:0.862:0.138	.	693	Q9UIG0	BAZ1B_HUMAN	W	693	ENSP00000342434:R693W;ENSP00000385442:R693W	ENSP00000342434:R693W	R	-	1	2	BAZ1B	72529650	1.000000	0.71417	0.974000	0.42286	0.784000	0.44337	5.141000	0.64814	1.499000	0.48617	-0.268000	0.10319	CGG		0.473	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		10	61	0	0	0	1	0	10	61				
MYO3A	53904	broad.mit.edu	37	10	26462763	26462763	+	Silent	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr10:26462763A>G	ENST00000265944.5	+	30	3736	c.3570A>G	c.(3568-3570)aaA>aaG	p.K1190K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1190					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGACTCCAAAAAAAATGAATA	0.408																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3568-3570)aaA>aaG		myosin IIIA							68.0	67.0	68.0					10																	26462763		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462763A>G	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3570A>G	10.37:g.26462763A>G						MYO3A_ENST00000543632.1_Intron	p.K1190K	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	3736	+			1190					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.3570A>G	CCDS7148.1																																																																																				0.408	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		8	39	0	0	0	1	0	8	39				
ELMO1	9844	broad.mit.edu	37	7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	rs146510671		TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	5					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502																																						ENST00000310758.4																			1	Substitution - Missense(1)	p.A5T(1)	ovary(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(13-15)Gcg>Acg		engulfment and cell motility 1		C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	116.0	121.0	119.0		13,13,13	4.0	0.0	7	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense,missense	ELMO1	NM_001206480.1,NM_001206482.1,NM_014800.10	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	5/728,5/728,5/728	37382282	2,13004	2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37382282C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.13G>A	7.37:g.37382282C>T	ENSP00000312185:p.Ala5Thr					ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T	p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			2	660	-			5					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.13G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533964	0.64972	4.54E-4	0.0	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.44881	2.53;2.53;2.53;1.53;1.52;0.94;0.91	4.94	4.03	0.46877	.	0.200167	0.41823	D	0.000804	T	0.27594	0.0678	N	0.19112	0.55	0.44323	D	0.997201	B	0.14012	0.009	B	0.14578	0.011	T	0.04635	-1.0937	10	0.25106	T	0.35	.	12.5184	0.56046	0.1731:0.8269:0.0:0.0	.	5	Q92556	ELMO1_HUMAN	T	5	ENSP00000312185:A5T;ENSP00000406952:A5T;ENSP00000394458:A5T;ENSP00000406610:A5T;ENSP00000416090:A5T;ENSP00000391734:A5T;ENSP00000397857:A5T	ENSP00000312185:A5T	A	-	1	0	ELMO1	37348807	0.961000	0.32948	0.033000	0.17914	0.945000	0.59286	2.373000	0.44266	1.166000	0.42689	0.655000	0.94253	GCG		0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		4	148	0	0	0	1	0	4	148				
DDX3Y	8653	broad.mit.edu	37	Y	15023762	15023762	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chrY:15023762A>G	ENST00000336079.3	+	4	269	c.163A>G	c.(163-165)Aaa>Gaa	p.K55E	DDX3Y_ENST00000360160.4_Missense_Mutation_p.K55E	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	55						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						ATTCCATGATAAAGACAGTTC	0.373																																						ENST00000336079.3																			0				kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(163-165)Aaa>Gaa		DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked							95.0	93.0	94.0					Y																	15023762		602	1951	2553	SO:0001583	missense	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15023762A>G	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"""DEAD-boxes"""	2699	protein-coding gene	gene with protein product		400010	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"""	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.163A>G	Y.37:g.15023762A>G	ENSP00000336725:p.Lys55Glu					DDX3Y_ENST00000360160.4_Missense_Mutation_p.K55E	p.K55E	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN			4	269	+			55					B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	c.163A>G	CCDS14782.1																																																																																				0.373	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		4	27	0	0	0	1	0	4	27				
SLC34A2	10568	broad.mit.edu	37	4	25667862	25667862	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:25667862G>A	ENST00000382051.3	+	5	542	c.492G>A	c.(490-492)acG>acA	p.T164T	SLC34A2_ENST00000503434.1_Silent_p.T163T|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Silent_p.T163T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	164					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCACCTCAACGTCCATCGTTG	0.557			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(490-492)acG>acA		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							123.0	108.0	113.0					4																	25667862		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25667862G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.492G>A	4.37:g.25667862G>A						SLC34A2_ENST00000504570.1_Silent_p.T163T|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000503434.1_Silent_p.T163T	p.T164T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			5	542	+		Breast(46;0.0503)	164					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.492G>A	CCDS3435.1																																																																																				0.557	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		3	71	0	0	0	1	0	3	71				
PDE3B	5140	broad.mit.edu	37	11	14808089	14808089	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:14808089C>T	ENST00000282096.4	+	3	1489	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	379					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GTCATTTCCTCTCTACGGAGT	0.448																																						ENST00000282096.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1135-1137)tCt>tTt		phosphodiesterase 3B, cGMP-inhibited							181.0	189.0	186.0					11																	14808089		2200	4294	6494	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14808089C>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1136C>T	11.37:g.14808089C>T	ENSP00000282096:p.Ser379Phe					PDE3B_ENST00000455098.2_Intron	p.S379F	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN			3	1489	+			379					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.1136C>T	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283472	0.80803	.	.	ENSG00000152270	ENST00000282096	T	0.39229	1.09	5.72	4.77	0.60923	.	1.758080	0.02595	N	0.100455	T	0.63462	0.2513	M	0.73962	2.25	0.80722	D	1	D	0.56035	0.974	P	0.52267	0.694	T	0.56007	-0.8050	10	0.87932	D	0	.	16.1532	0.81636	0.1339:0.8661:0.0:0.0	.	379	Q13370	PDE3B_HUMAN	F	379	ENSP00000282096:S379F	ENSP00000282096:S379F	S	+	2	0	PDE3B	14764665	0.999000	0.42202	1.000000	0.80357	0.921000	0.55340	3.569000	0.53827	2.696000	0.92011	0.558000	0.71614	TCT		0.448	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		25	117	0	0	0	1	0	25	117				
HERC2P2	400322	broad.mit.edu	37	15	23300033	23300033	+	RNA	SNP	T	T	C	rs1058831	byFrequency	TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr15:23300033T>C	ENST00000560464.1	-	0	4254									hect domain and RLD 2 pseudogene 2																		CGGGAACGGGTGACTGCTTGC	0.592													C|||	1690	0.33746	0.4826	0.3069	5008	,	,		22469	0.3135		0.2286	False		,,,				2504	0.2996					ENST00000560464.1																			0																																																			0							g.chr15:23300033T>C	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23300033T>C														0	4254	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.592	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	29	0	0	0	1	0	3	29				
PCDHB2	56133	broad.mit.edu	37	5	140476458	140476458	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr5:140476458C>T	ENST00000194155.4	+	1	2232	c.2084C>T	c.(2083-2085)gCg>gTg	p.A695V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	695					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGTGGTGGCGTTGGCCTCG	0.697																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(2083-2085)gCg>gTg									54.0	56.0	55.0					5																	140476458		2135	4180	6315	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140476458C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2084C>T	5.37:g.140476458C>T	ENSP00000194155:p.Ala695Val						p.A695V	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2232	+			695					Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.2084C>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634689	0.67130	.	.	ENSG00000112852	ENST00000194155	T	0.25250	1.81	3.99	3.99	0.46301	.	.	.	.	.	T	0.55130	0.1901	H	0.97983	4.12	0.25800	N	0.984523	D	0.67145	0.996	P	0.49752	0.621	T	0.63492	-0.6625	9	0.87932	D	0	.	12.885	0.58038	0.0:0.835:0.165:0.0	.	695	Q9Y5E7	PCDB2_HUMAN	V	695	ENSP00000194155:A695V	ENSP00000194155:A695V	A	+	2	0	PCDHB2	140456642	0.005000	0.15991	0.033000	0.17914	0.553000	0.35397	1.774000	0.38573	1.921000	0.55644	0.456000	0.33151	GCG		0.697	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		21	212	0	0	0	1	0	21	212				
BAZ2B	29994	broad.mit.edu	37	2	160289578	160289578	+	Silent	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr2:160289578A>G	ENST00000392783.2	-	9	2085	c.1590T>C	c.(1588-1590)ccT>ccC	p.P530P	BAZ2B_ENST00000355831.2_Silent_p.P530P|BAZ2B_ENST00000343439.5_Silent_p.P528P|BAZ2B_ENST00000392782.1_Silent_p.P528P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	530			P -> L (in dbSNP:rs3732287).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTGAGGAAAAAGGGGTGCTAC	0.443																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(1588-1590)ccT>ccC		bromodomain adjacent to zinc finger domain, 2B							185.0	168.0	174.0					2																	160289578		1871	4104	5975	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160289578A>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1590T>C	2.37:g.160289578A>G						BAZ2B_ENST00000355831.2_Silent_p.P530P|BAZ2B_ENST00000343439.5_Silent_p.P528P|BAZ2B_ENST00000392782.1_Silent_p.P528P	p.P530P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			9	2085	-			530		P -> L (in dbSNP:rs3732287).			D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.1590T>C	CCDS2209.2																																																																																				0.443	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			3	111	0	0	0	1	0	3	111				
PICALM	8301	broad.mit.edu	37	11	85725995	85725995	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:85725995A>G	ENST00000393346.3	-	5	612	c.464T>C	c.(463-465)gTt>gCt	p.V155A	PICALM_ENST00000356360.5_Missense_Mutation_p.V155A|PICALM_ENST00000526033.1_Missense_Mutation_p.V155A|PICALM_ENST00000528398.1_Missense_Mutation_p.V104A|PICALM_ENST00000532317.1_Missense_Mutation_p.V155A			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	155					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TGTTCTCATAACTCCATCAGC	0.333			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	ENST00000526033.1				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"""MLLT10, MLL"""		"""TALL, AML, """		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(463-465)gTt>gCt		phosphatidylinositol binding clathrin assembly protein							116.0	107.0	110.0					11																	85725995		2200	4295	6495	SO:0001583	missense	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85725995A>G	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.464T>C	11.37:g.85725995A>G	ENSP00000377015:p.Val155Ala					PICALM_ENST00000393346.3_Missense_Mutation_p.V155A|PICALM_ENST00000356360.5_Missense_Mutation_p.V155A|PICALM_ENST00000532317.1_Missense_Mutation_p.V155A|PICALM_ENST00000528398.1_Missense_Mutation_p.V104A	p.V155A	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN			5	780	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	155					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	c.464T>C	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509321	0.64522	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360;ENST00000531930;ENST00000525162;ENST00000528256	T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	4.98	4.98	0.66077	ANTH (1);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	L	0.42245	1.32	0.80722	D	1	D;D;B;D	0.89917	0.993;0.999;0.295;1.0	D;D;P;D	0.81914	0.993;0.992;0.577;0.995	T	0.32561	-0.9902	9	.	.	.	-5.9655	14.9913	0.71390	1.0:0.0:0.0:0.0	.	104;155;155;155	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	A	155;155;155;155;104;155;121;104;121	ENSP00000436958:V155A;ENSP00000433846:V155A;ENSP00000377015:V155A;ENSP00000434884:V104A;ENSP00000348718:V155A;ENSP00000433303:V121A;ENSP00000436508:V104A;ENSP00000431545:V121A	.	V	-	2	0	PICALM	85403643	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.287000	0.95975	1.994000	0.58287	0.477000	0.44152	GTT		0.333	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		3	13	0	0	0	1	0	3	13				
SIK3	23387	broad.mit.edu	37	11	116729075	116729075	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:116729075G>A	ENST00000292055.4	-	20	2823	c.2788C>T	c.(2788-2790)Ccc>Tcc	p.P930S	SIK3_ENST00000434315.2_Missense_Mutation_p.P769S|SIK3_ENST00000375300.1_Missense_Mutation_p.P988S|SIK3_ENST00000375288.1_Missense_Mutation_p.P265S|SIK3_ENST00000542607.1_Missense_Mutation_p.P870S|SIK3_ENST00000446921.2_Missense_Mutation_p.P928S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	930	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCTGTTGGGGGCAGCCGGATG	0.567																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2962-2964)Ccc>Tcc		SIK family kinase 3							57.0	58.0	58.0					11																	116729075		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729075G>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2788C>T	11.37:g.116729075G>A	ENSP00000292055:p.Pro930Ser					SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.P870S|SIK3_ENST00000375288.1_Missense_Mutation_p.P265S|SIK3_ENST00000446921.2_Missense_Mutation_p.P928S|SIK3_ENST00000292055.4_Missense_Mutation_p.P930S|SIK3_ENST00000434315.2_Missense_Mutation_p.P769S	p.P988S			Q9Y2K2	SIK3_HUMAN			20	2967	-			930					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2962C>T	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.816155|4.816155	0.90790|0.90790	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	.|T;T;T;T;T	.|0.36520	.|1.25;1.25;1.25;1.25;1.25	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.41294	.|U	.|0.000912	T|T	0.52789|0.52789	0.1756|0.1756	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.998;0.998;0.998;0.999	T|T	0.54153|0.54153	-0.8336|-0.8336	5|10	.|0.87932	.|D	.|0	.|.	19.7711|19.7711	0.96366|0.96366	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|930;870;769;930;265	.|Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.|.;.;.;SIK3_HUMAN;.	V|S	1029;892|988;930;265;870;769	.|ENSP00000364449:P988S;ENSP00000292055:P930S;ENSP00000364437:P265S;ENSP00000438108:P870S;ENSP00000415873:P769S	.|ENSP00000292055:P930S	A|P	-|-	2|1	0|0	SIK3|SIK3	116234285|116234285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	8.979000|8.979000	0.93455|0.93455	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.567	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		3	42	0	0	0	1	0	3	42				
ZNF395	55893	broad.mit.edu	37	8	28206326	28206326	+	Silent	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr8:28206326C>T	ENST00000344423.5	-	10	1583	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	ZNF395_ENST00000523202.1_Silent_p.K484K|ZNF395_ENST00000523095.1_Silent_p.K484K	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TGCGGCACTTCTTAGCCTCCC	0.627																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1450-1452)aaG>aaA		zinc finger protein 395							63.0	60.0	61.0					8																	28206326		2203	4300	6503	SO:0001819	synonymous_variant	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28206326C>T	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1452G>A	8.37:g.28206326C>T						ZNF395_ENST00000523202.1_Silent_p.K484K|ZNF395_ENST00000523095.1_Silent_p.K484K	p.K484K	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	10	1583	-		Ovarian(32;2.06e-05)	484					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	ENST00000344423.5	37	c.1452G>A	CCDS6067.1																																																																																				0.627	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			6	74	0	0	0	1	0	6	74				
WWP1	11059	broad.mit.edu	37	8	87470210	87470210	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr8:87470210C>T	ENST00000517970.1	+	22	2762	c.2455C>T	c.(2455-2457)Cga>Tga	p.R819*	WWP1_ENST00000265428.4_Nonsense_Mutation_p.R819*|WWP1_ENST00000341922.2_Nonsense_Mutation_p.R689*|WWP1_ENST00000349423.2_Nonsense_Mutation_p.R601*	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	819	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TACTGTTTATCGACATTATAC	0.358																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(2455-2457)Cga>Tga		WW domain containing E3 ubiquitin protein ligase 1							168.0	150.0	156.0					8																	87470210		2203	4300	6503	SO:0001587	stop_gained	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87470210C>T	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2455C>T	8.37:g.87470210C>T	ENSP00000427793:p.Arg819*					WWP1_ENST00000349423.2_Nonsense_Mutation_p.R601*|WWP1_ENST00000341922.2_Nonsense_Mutation_p.R689*|WWP1_ENST00000265428.4_Nonsense_Mutation_p.R819*	p.R819*	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			22	2762	+			819			HECT.		O00307|Q5YLC1|Q96BP4	Nonsense_Mutation	SNP	ENST00000517970.1	37	c.2455C>T	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	C	39	7.854032	0.98525	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	.	.	.	5.12	5.12	0.69794	.	0.070564	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	.	.	.	X	819;819;689;601	.	ENSP00000265428:R819X	R	+	1	2	WWP1	87539326	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	2.937000	0.48979	2.386000	0.81285	0.585000	0.79938	CGA		0.358	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		4	212	0	0	0	1	0	4	212				
BCAR3	8412	broad.mit.edu	37	1	94054855	94054855	+	Missense_Mutation	SNP	C	C	T	rs375478012		TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:94054855C>T	ENST00000370244.1	-	7	896	c.608G>A	c.(607-609)cGg>cAg	p.R203Q	RP5-1033H22.2_ENST00000427243.1_RNA|BCAR3_ENST00000370247.3_Missense_Mutation_p.R112Q|BCAR3_ENST00000370243.1_Missense_Mutation_p.R203Q|RP5-1033H22.2_ENST00000431770.1_RNA|BCAR3_ENST00000260502.6_Missense_Mutation_p.R203Q|RP5-1033H22.2_ENST00000417401.1_RNA	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	203	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CAGAACTGTCCGGTTGATTTT	0.582																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(607-609)cGg>cAg		breast cancer anti-estrogen resistance 3		C	GLN/ARG	0,4406		0,0,2203	51.0	52.0	51.0		608	2.0	0.7	1		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	BCAR3	NM_003567.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	203/826	94054855	1,13005	2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94054855C>T	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.608G>A	1.37:g.94054855C>T	ENSP00000359264:p.Arg203Gln					BCAR3_ENST00000370243.1_Missense_Mutation_p.R203Q|BCAR3_ENST00000370247.3_Missense_Mutation_p.R112Q|BCAR3_ENST00000260502.6_Missense_Mutation_p.R203Q	p.R203Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	7	896	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	203			SH2.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.608G>A	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175328	0.38413	0.0	1.16E-4	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.96	2.01	0.26516	SH2 motif (4);	0.204896	0.51477	N	0.000088	T	0.70245	0.3202	N	0.16266	0.395	0.80722	D	1	B;B	0.30193	0.272;0.204	B;B	0.34931	0.192;0.028	T	0.69131	-0.5226	10	0.59425	D	0.04	11.2173	9.0892	0.36601	0.0:0.5727:0.0:0.4273	.	203;112	O75815;Q5TEW3	BCAR3_HUMAN;.	Q	112;203;203;203	ENSP00000359267:R112Q;ENSP00000260502:R203Q;ENSP00000359264:R203Q;ENSP00000359263:R203Q	ENSP00000260502:R203Q	R	-	2	0	BCAR3	93827443	0.653000	0.27358	0.743000	0.31040	0.366000	0.29705	0.526000	0.22971	0.614000	0.30107	0.561000	0.74099	CGG		0.582	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			4	39	0	0	0	1	0	4	39				
PRRC2B	84726	broad.mit.edu	37	9	134321811	134321811	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:134321811G>A	ENST00000357304.4	+	6	692	c.637G>A	c.(637-639)Ggt>Agt	p.G213S	PRRC2B_ENST00000372249.1_5'Flank|PRRC2B_ENST00000458550.1_Missense_Mutation_p.G213S|PRRC2B_ENST00000405995.1_Missense_Mutation_p.G213S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	213							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAGGGAGGGCGGTGGGCGACA	0.582																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(637-639)Ggt>Agt		proline-rich coiled-coil 2B							41.0	42.0	42.0					9																	134321811		1944	4138	6082	SO:0001583	missense	84726						protein binding	g.chr9:134321811G>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.637G>A	9.37:g.134321811G>A	ENSP00000349856:p.Gly213Ser					PRRC2B_ENST00000405995.1_Missense_Mutation_p.G213S|PRRC2B_ENST00000458550.1_Missense_Mutation_p.G213S	p.G213S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			6	692	+			213					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.637G>A	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	34	5.377312	0.95945	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	T;T;T	0.09538	2.97;3.24;2.97	5.24	5.24	0.73138	.	0.000000	0.42548	U	0.000699	T	0.36496	0.0969	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04090	-1.0978	10	0.62326	D	0.03	-16.5053	18.3537	0.90348	0.0:0.0:1.0:0.0	.	213	Q5JSZ5	PRC2B_HUMAN	S	213	ENSP00000384606:G213S;ENSP00000349856:G213S;ENSP00000398853:G213S	ENSP00000349856:G213S	G	+	1	0	PRRC2B	133311632	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.681000	0.91228	2.884000	0.98904	0.655000	0.94253	GGT		0.582	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	88	0	0	0	1	0	3	88				
TBC1D9	23158	broad.mit.edu	37	4	141543453	141543453	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:141543453G>T	ENST00000442267.2	-	21	3771	c.3697C>A	c.(3697-3699)Ccc>Acc	p.P1233T		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1233							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.P1233T(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATGCACACGGGCTTGTCAAAG	0.592																																						ENST00000442267.2																			2	Substitution - Missense(2)	p.P1233T(2)	prostate(2)	endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3697-3699)Ccc>Acc		TBC1 domain family, member 9 (with GRAM domain)							58.0	61.0	60.0					4																	141543453		2054	4196	6250	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543453G>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3697C>A	4.37:g.141543453G>T	ENSP00000411197:p.Pro1233Thr						p.P1233T	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3771	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1233					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3697C>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843497	0.51057	.	.	ENSG00000109436	ENST00000442267	T	0.09817	2.94	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	L	0.58810	1.83	0.80722	D	1	B	0.20780	0.048	B	0.22753	0.041	T	0.02450	-1.1157	10	0.66056	D	0.02	.	18.7997	0.92011	0.0:0.0:1.0:0.0	.	1233	Q6ZT07	TBCD9_HUMAN	T	1233	ENSP00000411197:P1233T	ENSP00000411197:P1233T	P	-	1	0	TBC1D9	141762903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.843000	0.99491	2.430000	0.82344	0.655000	0.94253	CCC		0.592	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		7	42	1	0	2.0095e-06	1	2.24316e-06	7	42				
CDC14B	8555	broad.mit.edu	37	9	99296346	99296346	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:99296346G>C	ENST00000375241.1	-	9	1260	c.809C>G	c.(808-810)gCc>gGc	p.A270G	CDC14B_ENST00000375242.3_Missense_Mutation_p.A233G|CDC14B_ENST00000265659.2_Missense_Mutation_p.A270G|CDC14B_ENST00000463569.1_Missense_Mutation_p.A270G|CDC14B_ENST00000375236.1_Missense_Mutation_p.A270G|CDC14B_ENST00000375240.3_Missense_Mutation_p.A270G	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	270	B.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				AAAGCGTTTGGCATCATACAT	0.388																																						ENST00000375241.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15						c.(808-810)gCc>gGc		cell division cycle 14B							53.0	50.0	51.0					9																	99296346		2202	4291	6493	SO:0001583	missense	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99296346G>C	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.809C>G	9.37:g.99296346G>C	ENSP00000364389:p.Ala270Gly					CDC14B_ENST00000375242.3_Missense_Mutation_p.A233G|CDC14B_ENST00000463569.1_Missense_Mutation_p.A270G|CDC14B_ENST00000265659.2_Missense_Mutation_p.A270G|CDC14B_ENST00000375236.1_Missense_Mutation_p.A270G|CDC14B_ENST00000375240.3_Missense_Mutation_p.A270G	p.A270G	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN			9	1260	-		Acute lymphoblastic leukemia(62;0.0559)	270			B.		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	c.809C>G	CCDS6722.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.39|17.39	3.378503|3.378503	0.61735|0.61735	.|.	.|.	ENSG00000081377|ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236|ENST00000452280	T;T;T;T;T;T|.	0.22945|.	1.93;1.93;1.93;1.93;1.93;1.93|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Dual specificity phosphatase, catalytic domain (1);|.	0.051317|.	0.85682|.	D|.	0.000000|.	T|T	0.74974|0.74974	0.3787|0.3787	M|M	0.66506|0.66506	2.035|2.035	0.80722|0.80722	D|D	1|1	B;B;B|.	0.30914|.	0.065;0.3;0.037|.	B;B;B|.	0.39419|.	0.095;0.299;0.045|.	T|T	0.72564|0.72564	-0.4255|-0.4255	10|5	0.66056|.	D|.	0.02|.	-7.7765|-7.7765	19.2011|19.2011	0.93712|0.93712	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	270;270;233|.	O60729-2;O60729;A8MQ20|.	.;CC14B_HUMAN;.|.	G|W	270;270;270;233;270;270|247	ENSP00000265659:A270G;ENSP00000364389:A270G;ENSP00000364388:A270G;ENSP00000364390:A233G;ENSP00000420572:A270G;ENSP00000364384:A270G|.	ENSP00000265659:A270G|.	A|C	-|-	2|3	0|2	CDC14B|CDC14B	98336167|98336167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	7.681000|7.681000	0.84073|0.84073	2.773000|2.773000	0.95371|0.95371	0.585000|0.585000	0.79938|0.79938	GCC|TGC		0.388	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		5	35	0	0	0	1	0	5	35				
CNTNAP1	8506	broad.mit.edu	37	17	40847632	40847632	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr17:40847632G>T	ENST00000264638.4	+	19	3303	c.3086G>T	c.(3085-3087)aGc>aTc	p.S1029I	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1029					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.S1029I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACATGCTGAGCCGGCCAGTG	0.617																																						ENST00000264638.4																			1	Substitution - Missense(1)	p.S1029I(1)	lung(1)	NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3085-3087)aGc>aTc		contactin associated protein 1							46.0	48.0	47.0					17																	40847632		2202	4300	6502	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40847632G>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3086G>T	17.37:g.40847632G>T	ENSP00000264638:p.Ser1029Ile					CTD-3193K9.3_ENST00000592440.1_RNA	p.S1029I	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	19	3303	+		Breast(137;0.000143)	1029						Missense_Mutation	SNP	ENST00000264638.4	37	c.3086G>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737350	0.49045	.	.	ENSG00000108797	ENST00000264638	D	0.90504	-2.68	4.99	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	N	0.14661	0.345	0.36034	D	0.839592	B	0.19073	0.033	B	0.14023	0.01	T	0.75897	-0.3155	10	0.22109	T	0.4	.	9.4603	0.38781	0.0961:0.0:0.9039:0.0	.	1029	P78357	CNTP1_HUMAN	I	1029	ENSP00000264638:S1029I	ENSP00000264638:S1029I	S	+	2	0	CNTNAP1	38101158	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.388000	0.52509	1.316000	0.45131	0.655000	0.94253	AGC		0.617	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		9	69	1	0	0.0477658	1	0.0477658	9	69				
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr6:7727541A>T	ENST00000283147.6	+	1	512	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	118					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.Q118L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731																																						ENST00000283147.6																			1	Substitution - Missense(1)	p.Q118L(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(352-354)cAg>cTg		bone morphogenetic protein 6																																				SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727541A>T	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.353A>T	6.37:g.7727541A>T	ENSP00000283147:p.Gln118Leu						p.Q118L	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			1	512	+	Ovarian(93;0.0721)		118					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.353A>T	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	A	5.648	0.304211	0.10678	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.72725	-0.68	3.64	-7.28	0.01456	Transforming growth factor-beta, N-terminal (1);	0.609742	0.13235	N	0.403351	T	0.27134	0.0665	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10382	-1.0632	10	0.41790	T	0.15	.	2.9855	0.05966	0.1788:0.4954:0.0931:0.2327	.	118	P22004	BMP6_HUMAN	L	40;118;81	ENSP00000283147:Q118L	ENSP00000283147:Q118L	Q	+	2	0	BMP6	7672540	0.177000	0.23109	0.002000	0.10522	0.071000	0.16799	-0.158000	0.10070	-1.400000	0.02061	-1.802000	0.00618	CAG		0.731	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		2	11	0	0	0	1	0	2	11				
LHX8	431707	broad.mit.edu	37	1	75609601	75609601	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:75609601G>T	ENST00000294638.5	+	7	1346	c.682G>T	c.(682-684)Gct>Tct	p.A228S	LHX8_ENST00000356261.3_Missense_Mutation_p.A218S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	228					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AGCAAAAAGAGCTCGGACCAG	0.398																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(682-684)Gct>Tct		LIM homeobox 8							107.0	103.0	104.0					1																	75609601		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75609601G>T	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.682G>T	1.37:g.75609601G>T	ENSP00000294638:p.Ala228Ser					LHX8_ENST00000356261.3_Missense_Mutation_p.A218S	p.A228S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			7	1346	+			228					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.682G>T	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	34	5.409934	0.96072	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.96011	-3.88;-3.88	5.63	5.63	0.86233	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93674	0.7979	N	0.04636	-0.2	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.95636	0.8694	10	0.62326	D	0.03	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	228	Q68G74	LHX8_HUMAN	S	228;218	ENSP00000294638:A228S;ENSP00000348597:A218S	ENSP00000294638:A228S	A	+	1	0	LHX8	75382189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.805000	0.96524	0.655000	0.94253	GCT		0.398	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		7	37	1	0	0.00307968	1	0.00321358	7	37				
SLC30A9	10463	broad.mit.edu	37	4	42072553	42072553	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:42072553G>A	ENST00000264451.7	+	15	1443	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	421					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCAATCCACTGTATGACAGCC	0.398																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1261-1263)ctG>ctA		solute carrier family 30 (zinc transporter), member 9							181.0	160.0	167.0					4																	42072553		2203	4300	6503	SO:0001819	synonymous_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42072553G>A	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1263G>A	4.37:g.42072553G>A							p.L421L	NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			15	1443	+			421					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Silent	SNP	ENST00000264451.7	37	c.1263G>A	CCDS3465.1																																																																																				0.398	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			23	110	0	0	0	1	0	23	110				
NLRP3	114548	broad.mit.edu	37	1	247588840	247588840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:247588840C>T	ENST00000336119.3	+	3	2841	c.2095C>T	c.(2095-2097)Cga>Tga	p.R699*	NLRP3_ENST00000391828.3_Nonsense_Mutation_p.R699*|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000366497.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	699					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAAGGAAGGCCGACACCTTGA	0.532																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2095-2097)Cga>Tga		NLR family, pyrin domain containing 3							131.0	117.0	122.0					1																	247588840		2203	4300	6503	SO:0001587	stop_gained	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588840C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2095C>T	1.37:g.247588840C>T	ENSP00000337383:p.Arg699*					NLRP3_ENST00000336119.3_Nonsense_Mutation_p.R699*|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.R699*	p.R699*	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	2875	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	699					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Nonsense_Mutation	SNP	ENST00000336119.3	37	c.2095C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	42	9.513036	0.99192	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	.	.	.	3.75	1.83	0.25207	.	1.869480	0.02994	N	0.147221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.547	0.12085	0.2178:0.6664:0.0:0.1157	.	.	.	.	X	699	.	ENSP00000337383:R699X	R	+	1	2	NLRP3	245655463	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.268000	0.08607	0.532000	0.28657	0.655000	0.94253	CGA		0.532	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		5	43	0	0	0	1	0	5	43				
PLAC8	51316	broad.mit.edu	37	4	84026088	84026088	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:84026088G>A	ENST00000509973.1	-	2	156	c.33C>T	c.(31-33)gtC>gtT	p.V11V	PLAC8_ENST00000515389.1_Intron|PLAC8_ENST00000311507.4_Silent_p.V68V|PLAC8_ENST00000426923.2_Silent_p.V68V|PLAC8_ENST00000505406.1_Silent_p.V68V|PLAC8_ENST00000411416.2_Silent_p.V68V			Q9UHV8	PP13_HUMAN	placenta-specific 8	0	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				TCCTCATTGCGACGCTTGTTC	0.443																																						ENST00000426923.2																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.(202-204)gtC>gtT		placenta-specific 8							120.0	109.0	113.0					4																	84026088		2203	4300	6503	SO:0001819	synonymous_variant	51316							g.chr4:84026088G>A	AF208846	CCDS3601.1	4q21.22	2006-05-20			ENSG00000145287	ENSG00000145287			19254	protein-coding gene	gene with protein product		607515				12758124, 12384430	Standard	NM_016619		Approved	onzin, C15	uc003hoe.3	Q9NZF1	OTTHUMG00000130294	ENST00000509973.1:c.33C>T	4.37:g.84026088G>A						PLAC8_ENST00000515389.1_Intron|PLAC8_ENST00000505406.1_Silent_p.V68V|PLAC8_ENST00000311507.4_Silent_p.V68V|PLAC8_ENST00000509973.1_Silent_p.V11V|PLAC8_ENST00000411416.2_Silent_p.V68V	p.V68V	NM_001130715.1	NP_001124187.1	Q9NZF1	PLAC8_HUMAN			3	282	-		Hepatocellular(203;0.114)	68					C5HZ15	Silent	SNP	ENST00000509973.1	37	c.204C>T																																																																																					0.443	PLAC8-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363078.1	NM_016619		8	95	0	0	0	1	0	8	95				
PTPN3	5774	broad.mit.edu	37	9	112185091	112185091	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:112185091A>C	ENST00000374541.2	-	13	1147	c.1043T>G	c.(1042-1044)aTg>aGg	p.M348R	PTPN3_ENST00000412145.1_Missense_Mutation_p.M217R|PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	348					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTTCCACACCATCCCGCCAAT	0.463																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(649-651)aTg>aGg		protein tyrosine phosphatase, non-receptor type 3							215.0	197.0	203.0					9																	112185091		2203	4300	6503	SO:0001583	missense	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112185091A>C		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1043T>G	9.37:g.112185091A>C	ENSP00000363667:p.Met348Arg					PTPN3_ENST00000374541.2_Missense_Mutation_p.M348R|PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron	p.M217R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			8	3203	-			348			FERM.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.650T>G	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.283882	0.59867	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000374541	D;D	0.81739	-1.53;-1.53	5.55	4.4	0.53042	.	0.081669	0.85682	D	0.000000	T	0.82001	0.4942	L	0.58101	1.795	0.80722	D	1	D	0.58970	0.984	P	0.51170	0.661	T	0.82208	-0.0571	10	0.59425	D	0.04	.	11.9495	0.52946	0.8698:0.0:0.0:0.1301	.	348	P26045	PTN3_HUMAN	R	348;217;348	ENSP00000416654:M217R;ENSP00000363667:M348R	ENSP00000363667:M348R	M	-	2	0	PTPN3	111224912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.873000	0.63057	0.928000	0.37168	0.528000	0.53228	ATG		0.463	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			26	194	0	0	0	1	0	26	194				
SLC11A1	6556	broad.mit.edu	37	2	219249918	219249918	+	Silent	SNP	C	C	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr2:219249918C>A	ENST00000233202.6	+	4	662	c.322C>A	c.(322-324)Cga>Aga	p.R108R	SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	108					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCTGCCAGCGACTGGCTGC	0.632																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(322-324)Cga>Aga		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							89.0	85.0	86.0					2																	219249918		2203	4300	6503	SO:0001819	synonymous_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219249918C>A	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.322C>A	2.37:g.219249918C>A						SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR	p.R108R	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	662	+		Renal(207;0.0474)	108					C0H5Y3	Silent	SNP	ENST00000233202.6	37	c.322C>A	CCDS2415.1																																																																																				0.632	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		3	126	1	0	0.004672	1	0.0047714	3	126				
TRAPPC4	51399	broad.mit.edu	37	11	118889681	118889681	+	Splice_Site	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:118889681G>A	ENST00000533632.1	+	1	539		c.e1+1		TRAPPC4_ENST00000528230.1_Splice_Site|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000533058.1_Splice_Site|TRAPPC4_ENST00000434101.2_Splice_Site|RPS25_ENST00000527673.1_5'Flank|TRAPPC4_ENST00000359005.4_Splice_Site|RPS25_ENST00000528547.1_5'Flank|TRAPPC4_ENST00000525303.1_Splice_Site	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGCATCCGAGGTGGGCTAGGC	0.627																																						ENST00000533632.1																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.e1+1		trafficking protein particle complex 4							43.0	44.0	44.0					11																	118889681		2200	4295	6495	SO:0001630	splice_region_variant	51399				dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding	g.chr11:118889681G>A	AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296		ENST00000533632.1:c.175+1G>A	11.37:g.118889681G>A						TRAPPC4_ENST00000434101.2_Splice_Site|TRAPPC4_ENST00000533058.1_Splice_Site|TRAPPC4_ENST00000359005.4_Splice_Site|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000525303.1_Splice_Site|TRAPPC4_ENST00000528230.1_Splice_Site		NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	1	539	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)						A8K3A5|B4DME1	Splice_Site	SNP	ENST00000533632.1	37		CCDS8407.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569635	0.65765	.	.	ENSG00000196655	ENST00000533632;ENST00000528230;ENST00000525303;ENST00000434101;ENST00000359005;ENST00000533058	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2616	0.93970	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRAPPC4	118394891	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	7.986000	0.88173	2.668000	0.90789	0.655000	0.94253	.		0.627	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389332.1	NM_016146	Intron	4	98	0	0	0	1	0	4	98				
GPR158	57512	broad.mit.edu	37	10	25888046	25888046	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr10:25888046C>T	ENST00000376351.3	+	11	3850	c.3491C>T	c.(3490-3492)cCt>cTt	p.P1164L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1164					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTCCAGCAACCTTTAACATCA	0.433																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(3490-3492)cCt>cTt		G protein-coupled receptor 158							61.0	63.0	62.0					10																	25888046		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25888046C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3491C>T	10.37:g.25888046C>T	ENSP00000365529:p.Pro1164Leu					GPR158_ENST00000490549.1_3'UTR	p.P1164L	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	3850	+			1164					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3491C>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385082	0.25031	.	.	ENSG00000151025	ENST00000376351	T	0.64085	-0.08	5.47	5.47	0.80525	.	0.158034	0.44483	D	0.000449	T	0.55305	0.1912	L	0.32530	0.975	0.80722	D	1	B	0.13594	0.008	B	0.08055	0.003	T	0.50250	-0.8850	10	0.49607	T	0.09	.	19.3388	0.94332	0.0:1.0:0.0:0.0	.	1164	Q5T848	GP158_HUMAN	L	1164	ENSP00000365529:P1164L	ENSP00000365529:P1164L	P	+	2	0	GPR158	25928052	0.885000	0.30320	0.036000	0.18154	0.010000	0.07245	1.594000	0.36697	2.553000	0.86117	0.655000	0.94253	CCT		0.433	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		5	41	0	0	0	1	0	5	41				
KIAA1407	57577	broad.mit.edu	37	3	113753974	113753974	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr3:113753974G>A	ENST00000295878.3	-	6	762	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	KIAA1407_ENST00000545063.1_Missense_Mutation_p.R37C	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	206										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCTTTCTCACGTCTTAAGCGA	0.383																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(616-618)Cgt>Tgt		KIAA1407							85.0	85.0	85.0					3																	113753974		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113753974G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.616C>T	3.37:g.113753974G>A	ENSP00000295878:p.Arg206Cys					KIAA1407_ENST00000545063.1_Missense_Mutation_p.R37C	p.R206C	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			6	762	-			206					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.616C>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686794	0.68157	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000;ENST00000483766	T;T;T	0.64085	0.55;0.04;-0.08	5.35	4.41	0.53225	.	0.060034	0.64402	D	0.000006	T	0.78130	0.4235	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.963;0.999;0.963	T	0.80520	-0.1346	10	0.87932	D	0	.	16.6764	0.85280	0.0:0.0:0.862:0.138	.	193;82;206	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	C	206;37;193;170	ENSP00000295878:R206C;ENSP00000446381:R37C;ENSP00000418099:R193C	ENSP00000295878:R206C	R	-	1	0	KIAA1407	115236664	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.015000	0.64035	2.784000	0.95788	0.585000	0.79938	CGT		0.383	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		6	33	0	0	0	1	0	6	33				
GRIN2B	2904	broad.mit.edu	37	12	13828770	13828770	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr12:13828770T>A	ENST00000609686.1	-	4	1243	c.1034A>T	c.(1033-1035)gAg>gTg	p.E345V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	345					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATTCCTCCCCTCAAAAGTGAC	0.398																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1033-1035)gAg>gTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						100.0	99.0	99.0					12																	13828770		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13828770T>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1034A>T	12.37:g.13828770T>A	ENSP00000477455:p.Glu345Val						p.E345V	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			4	1243	-			345					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1034A>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.678787	0.88542	.	.	ENSG00000150086	ENST00000279593	T	0.05258	3.47	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	M	0.82323	2.585	0.80722	D	1	P	0.49862	0.929	P	0.51516	0.672	T	0.00717	-1.1596	10	0.87932	D	0	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	345	Q13224	NMDE2_HUMAN	V	345	ENSP00000279593:E345V	ENSP00000279593:E345V	E	-	2	0	GRIN2B	13720037	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.650000	0.83521	2.291000	0.77112	0.533000	0.62120	GAG		0.398	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			8	68	0	0	0	1	0	8	68				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189.0	199.0	196.0					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		4	223	0	0	0	1	0	4	223				
CTSD	1509	broad.mit.edu	37	11	1780798	1780798	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:1780798G>A	ENST00000236671.2	-	3	432	c.300C>T	c.(298-300)tcC>tcT	p.S100S	RP11-295K3.1_ENST00000427721.1_5'Flank|AC068580.6_ENST00000449248.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	100					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACAGGTTGGAGGAGCCCGTGT	0.652																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(298-300)tcC>tcT		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						67.0	64.0	65.0					11																	1780798		2202	4299	6501	SO:0001819	synonymous_variant	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1780798G>A	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.300C>T	11.37:g.1780798G>A							p.S100S	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	3	432	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	100					Q6IB57	Silent	SNP	ENST00000236671.2	37	c.300C>T	CCDS7725.1																																																																																				0.652	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		3	61	0	0	0	1	0	3	61				
MAP3K11	4296	broad.mit.edu	37	11	65375265	65375265	+	Silent	SNP	G	G	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:65375265G>A	ENST00000530153.1	-	4	842	c.321C>T	c.(319-321)caC>caT	p.H107H	MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Silent_p.H364H|MAP3K11_ENST00000532507.1_5'Flank					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGGGCCTGCGGTGGGGGTCCT	0.652																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(1090-1092)caC>caT		mitogen-activated protein kinase kinase kinase 11							31.0	35.0	34.0					11																	65375265		2201	4296	6497	SO:0001819	synonymous_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65375265G>A		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.321C>T	11.37:g.65375265G>A						MAP3K11_ENST00000530153.1_Silent_p.H107H	p.H364H	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			4	1577	-			364			Protein kinase.			Silent	SNP	ENST00000530153.1	37	c.1092C>T																																																																																					0.652	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2			9	49	0	0	0	1	0	9	49				
RBL2	5934	broad.mit.edu	37	16	53504028	53504028	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr16:53504028A>G	ENST00000262133.6	+	15	2313	c.2176A>G	c.(2176-2178)Act>Gct	p.T726A	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	726	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCTGGACAGACTTTGGTCAC	0.547																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2176-2178)Act>Gct		retinoblastoma-like 2 (p130)							90.0	77.0	82.0					16																	53504028		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53504028A>G	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2176A>G	16.37:g.53504028A>G	ENSP00000262133:p.Thr726Ala					RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	p.T726A	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			15	2313	+			726			Pocket; binds E1A.|Spacer.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.2176A>G	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.068587	0.55539	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.90504	-2.68	6.07	4.98	0.66077	.	0.094628	0.64402	D	0.000001	D	0.88429	0.6434	L	0.54323	1.7	0.80722	D	1	B;B;D	0.57257	0.223;0.434;0.979	B;B;B	0.43950	0.222;0.145;0.437	D	0.86812	0.1999	10	0.42905	T	0.14	-12.9443	12.1355	0.53968	0.9335:0.0:0.0665:0.0	.	726;436;726	Q8NE70;E9PG04;Q08999	.;.;RBL2_HUMAN	A	726;436	ENSP00000262133:T726A	ENSP00000262133:T726A	T	+	1	0	RBL2	52061529	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	6.936000	0.75892	1.124000	0.41980	0.528000	0.53228	ACT		0.547	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		10	42	0	0	0	1	0	10	42				
KRTAP19-6	337973	broad.mit.edu	37	21	31914086	31914086	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr21:31914086A>T	ENST00000334046.5	-	1	97	c.67T>A	c.(67-69)Tat>Aat	p.Y23N		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	23						intermediate filament (GO:0005882)				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						CCACAGCCATAGCCCAGACCA	0.522																																						ENST00000334046.5																			0				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						c.(67-69)Tat>Aat		keratin associated protein 19-6							114.0	119.0	117.0					21																	31914086		2203	4300	6503	SO:0001583	missense	337973					intermediate filament		g.chr21:31914086A>T	AP001708	CCDS13598.1	21q22.1	2010-09-30			ENSG00000186925	ENSG00000186925		"""Keratin associated proteins"""	18941	protein-coding gene	gene with protein product						12359730	Standard	NM_181612		Approved	KAP19.6	uc002yok.1	Q3LI70	OTTHUMG00000057779	ENST00000334046.5:c.67T>A	21.37:g.31914086A>T	ENSP00000375107:p.Tyr23Asn						p.Y23N	NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN			1	97	-			23					Q3LI71	Missense_Mutation	SNP	ENST00000334046.5	37	c.67T>A	CCDS13598.1	.	.	.	.	.	.	.	.	.	.	a	9.444	1.088825	0.20390	.	.	ENSG00000186925	ENST00000334046;ENST00000437381	T	0.14144	2.53	4.44	4.44	0.53790	.	.	.	.	.	T	0.12305	0.0299	.	.	.	0.09310	N	1	P	0.44946	0.846	B	0.38378	0.272	T	0.13845	-1.0494	8	0.87932	D	0	.	10.4347	0.44428	1.0:0.0:0.0:0.0	.	23	Q3LI70	KR196_HUMAN	N	23	ENSP00000375107:Y23N	ENSP00000375107:Y23N	Y	-	1	0	KRTAP19-6	30835957	0.000000	0.05858	0.002000	0.10522	0.073000	0.16967	0.388000	0.20735	1.784000	0.52394	0.411000	0.27672	TAT		0.522	KRTAP19-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128231.4			11	160	0	0	0	1	0	11	160				
RNF217-AS1	7955	broad.mit.edu	37	6	125233353	125233353	+	RNA	SNP	T	T	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr6:125233353T>A	ENST00000439075.1	-	0	1392					NR_026876.1																						TGCCAGACACTCTATATTTGC	0.363																																						ENST00000439075.1																			0																				46.0	45.0	45.0					6																	125233353		876	1991	2867			0							g.chr6:125233353T>A																													6.37:g.125233353T>A								NR_026876.1						0	1392	-									RNA	SNP	ENST00000439075.1	37																																																																																						0.363	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1			8	32	0	0	0	1	0	8	32				
STKLD1	169436	broad.mit.edu	37	9	136260870	136260870	+	Silent	SNP	C	C	G			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:136260870C>G	ENST00000371957.3	+	9	953	c.846C>G	c.(844-846)ccC>ccG	p.P282P	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGATCGACCCCTCGGATCGAA	0.493																																						ENST00000371957.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(844-846)ccC>ccG		chromosome 9 open reading frame 96							73.0	80.0	77.0					9																	136260870		2203	4300	6503	SO:0001819	synonymous_variant	169436						ATP binding|protein kinase activity	g.chr9:136260870C>G																												ENST00000371957.3:c.846C>G	9.37:g.136260870C>G						C9orf96_ENST00000371955.1_5'UTR	p.P282P	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	9	953	+			282			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	ENST00000371957.3	37	c.846C>G	CCDS35169.1																																																																																				0.493	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			21	51	0	0	0	1	0	21	51				
FBLN1	2192	broad.mit.edu	37	22	45958914	45958914	+	Intron	SNP	G	G	T			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr22:45958914G>T	ENST00000327858.6	+	15	1792				FBLN1_ENST00000402984.3_Missense_Mutation_p.G645V|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.G607V|FBLN1_ENST00000442170.2_Intron	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCCGCATGGGCCCCTCCAGT	0.617																																						ENST00000402984.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(1933-1935)gGc>gTc		fibulin 1							59.0	72.0	67.0					22																	45958914		2203	4300	6503	SO:0001627	intron_variant	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45958914G>T		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1698-11477G>T	22.37:g.45958914G>T						FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.G607V|FBLN1_ENST00000442170.2_Intron	p.G645V			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	16	2037	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	620					B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.1934G>T	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856454	0.71834	.	.	ENSG00000077942	ENST00000402984;ENST00000262722	D;D	0.86030	-2.06;-1.93	4.86	3.8	0.43715	.	.	.	.	.	D	0.84488	0.5483	L	0.46157	1.445	0.80722	D	1	P;P	0.48294	0.908;0.902	P;P	0.49999	0.521;0.628	T	0.81339	-0.0977	9	0.24483	T	0.36	.	14.7288	0.69365	0.0:0.146:0.8539:0.0	.	645;607	B1AHL2;P23142-4	.;.	V	645;607	ENSP00000385521:G645V;ENSP00000262722:G607V	ENSP00000262722:G607V	G	+	2	0	FBLN1	44337578	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.186000	0.94906	0.978000	0.38470	0.313000	0.20887	GGC		0.617	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		10	98	1	0	7.48243e-07	1	8.55135e-07	10	98				
SCNN1D	6339	broad.mit.edu	37	1	1222261	1222262	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:1222261_1222262insC	ENST00000338555.2	+	5	1677_1678	c.533_534insC	c.(532-537)gtccccfs	p.VP178fs	SCNN1D_ENST00000379116.5_Frame_Shift_Ins_p.VP342fs|SCNN1D_ENST00000400928.3_Frame_Shift_Ins_p.VP178fs|SCNN1D_ENST00000325425.8_Frame_Shift_Ins_p.VP244fs			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	178					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	TCCGCCACTGTCCCCCGCCACG	0.644																																						ENST00000338555.2																			0				lung(6)|skin(1)	7						c.(532-534)gccfs		sodium channel, non-voltage-gated 1, delta subunit																																				SO:0001589	frameshift_variant	6339							g.chr1:1222261_1222262insC	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.538dupC	1.37:g.1222266_1222266dupC	ENSP00000339504:p.Val178fs					SCNN1D_ENST00000325425.8_Frame_Shift_Ins_p.A244fs|SCNN1D_ENST00000379116.5_Frame_Shift_Ins_p.A342fs|SCNN1D_ENST00000400928.3_Frame_Shift_Ins_p.A178fs	p.A178fs						Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	5	1677_1678	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Frame_Shift_Ins	INS	ENST00000338555.2	37	c.533_534insC																																																																																					0.644	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978		7	153						7	153	---	---	---	---
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs147310450|rs141096512|rs58784721	byFrequency	TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485														1607	0.320887	0.3389	0.366	5008	,	,		16526	0.1716		0.3738	False		,,,				2504	0.364					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721722_17721723delGA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721724_17721725delGA										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1545	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.485	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		3	6						3	6	---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23240245	23240246	+	Frame_Shift_Ins	INS	-	-	A	rs56871920|rs563863657|rs386629492	byFrequency	TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:23240245_23240246insA	ENST00000400191.3	+	17	3068_3069	c.3050_3051insA	c.(3049-3054)ggaaaafs	p.GK1017fs	EPHB2_ENST00000374632.3_3'UTR|RP1-74M1.3_ENST00000610135.1_lincRNA|EPHB2_ENST00000374627.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	1017					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCAAACGACGGAAAAAAAAAGG	0.5																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(3049-3051)gaafs		EPH receptor B2																																				SO:0001589	frameshift_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23240245_23240246insA	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.3059dupA	1.37:g.23240254_23240254dupA	ENSP00000383053:p.Gly1017fs					EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374632.3_3'UTR	p.E1017fs	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	17	3068_3069	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	1017					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Frame_Shift_Ins	INS	ENST00000400191.3	37	c.3050_3051insA																																																																																					0.500	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		3	5						3	5	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27023451	27023453	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:27023451_27023453delGCG	ENST00000324856.7	+	1	928_930	c.557_559delGCG	c.(556-561)agcggc>agc	p.G191del	ARID1A_ENST00000457599.2_In_Frame_Del_p.G191del|RP5-968P14.2_ENST00000569378.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	191					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCGCTGCAGAGCGGCGGCGGCGG	0.709			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(556-561)agc>a		AT rich interactive domain 1A (SWI-like)			,	11,2245		1,9,1118					,	3.1	1.0			5	33,5207		1,31,2588	no	coding,coding	ARID1A	NM_139135.2,NM_006015.4	,	2,40,3706	A1A1,A1R,RR		0.6298,0.4876,0.587	,	,		44,7452				SO:0001651	inframe_deletion	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27023451_27023453delGCG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.557_559delGCG	1.37:g.27023460_27023462delGCG	ENSP00000320485:p.Gly191del					ARID1A_ENST00000457599.2_In_Frame_Del_p.SG186del	p.SG186del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	1	928_930	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	186					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	In_Frame_Del	DEL	ENST00000324856.7	37	c.557_559delGCG	CCDS285.1																																																																																				0.709	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		2	4						2	4	---	---	---	---
TAPT1	202018	broad.mit.edu	37	4	16189980	16189981	+	Splice_Site	INS	-	-	A			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:16189980_16189981insA	ENST00000405303.2	-	5	696		c.e5-2		TAPT1_ENST00000508888.1_Splice_Site|TAPT1_ENST00000304584.8_Splice_Site|TAPT1_ENST00000399920.3_Splice_Site	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1						embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						ATCAGCTACCTAAAAAAAAAAA	0.317																																						ENST00000405303.2																			0				NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						c.e5-2		transmembrane anterior posterior transformation 1																																				SO:0001630	splice_region_variant	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16189980_16189981insA	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.613-2->T	4.37:g.16189991_16189991dupA						TAPT1_ENST00000508888.1_Splice_Site|TAPT1_ENST00000399920.3_Splice_Site|TAPT1_ENST00000304584.8_Splice_Site		NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN			5	696	-								Q8N2S3|Q9NZK9	Splice_Site	INS	ENST00000405303.2	37		CCDS47030.1																																																																																				0.317	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365	Intron	2	4						2	4	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs25559|rs10665556	byFrequency	TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351														3178	0.634585	0.7088	0.611	5008	,	,		12379	0.8274		0.4284	False		,,,				2504	0.5644					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269189_31269190insATCAT																													12.37:g.31269189_31269190insATCAT														0	165	-									RNA	INS	ENST00000542490.1	37																																																																																						0.351	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			3	3						3	3	---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80173535	80173535	+	5'Flank	DEL	C	C	-	rs61581716	byFrequency	TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr17:80173535delC	ENST00000389641.4	-	0	0				CCDC57_ENST00000392347.1_5'Flank|CCDC57_ENST00000392343.3_5'Flank|RP13-516M14.2_ENST00000581303.1_RNA			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57											endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			tccttccctgccccccacact	0.701													|||unknown(LONG_INSERTION)	2565	0.512181	0.5688	0.5375	5008	,	,		10887	0.5258		0.4235	False		,,,				2504	0.4949					ENST00000581303.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:80173535delC	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396		17.37:g.80173535delC	Exception_encountered													0	1371	+								A6NP51|A8MQC7|Q8IWG2|Q8TER3	RNA	DEL	ENST00000389641.4	37																																																																																						0.701	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		2	4						2	4	---	---	---	---
