#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KAZN	23254	broad.mit.edu	37	1	15361331	15361331	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:15361331C>T	ENST00000376030.2	+	3	799	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	KAZN_ENST00000361144.5_Missense_Mutation_p.R163C|KAZN_ENST00000422387.2_Missense_Mutation_p.R169C|KAZN_ENST00000400797.3_Missense_Mutation_p.R75C|KAZN_ENST00000503743.1_Missense_Mutation_p.R169C|KAZN_ENST00000400798.2_Missense_Mutation_p.R75C	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	169					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						ACTGGAGAGCCGCGAGGAGCA	0.617																																						uc001avm.3		NA																	0					0						c.(505-507)CGC>TGC		kazrin isoform E							93.0	88.0	90.0					1																	15361331		2203	4300	6503	SO:0001583	missense	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15361331C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.505C>T	1.37:g.15361331C>T	ENSP00000365198:p.Arg169Cys					KAZ_uc009vog.1_Missense_Mutation_p.R169C|KAZ_uc010obj.1_Missense_Mutation_p.R169C|KAZ_uc001avo.2_Missense_Mutation_p.R163C|KAZ_uc001avp.2_Missense_Mutation_p.R75C|KAZ_uc001avq.2_Missense_Mutation_p.R75C|KAZ_uc001avr.2_Missense_Mutation_p.R72C	p.R169C	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN			3	786	+			169			Potential.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	c.505C>T	CCDS152.2	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695360	0.68386	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000376028;ENST00000400798;ENST00000400797	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.73	4.73	0.59995	.	0.108030	0.64402	D	0.000009	T	0.65428	0.2690	L	0.60455	1.87	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;0.998;0.999;1.0	P;P;P;D	0.73708	0.804;0.629;0.804;0.981	T	0.69015	-0.5257	10	0.72032	D	0.01	-28.7652	17.0698	0.86570	0.0:1.0:0.0:0.0	.	169;75;163;169	Q674X7-2;Q674X7-4;Q674X7-3;Q674X7	.;.;.;KAZRN_HUMAN	C	169;169;169;163;75;75;75	ENSP00000365198:R169C;ENSP00000426015:R169C;ENSP00000391728:R169C;ENSP00000354727:R163C;ENSP00000365196:R75C;ENSP00000383602:R75C;ENSP00000383601:R75C	ENSP00000354727:R163C	R	+	1	0	KAZN	15233918	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.446000	0.52928	2.353000	0.79882	0.462000	0.41574	CGC		0.617	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		6	54	0	0	0	0	6	54				
HSPG2	3339	broad.mit.edu	37	1	22186712	22186712	+	Missense_Mutation	SNP	C	C	T	rs143523507		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:22186712C>T	ENST00000374695.3	-	40	5051	c.4972G>A	c.(4972-4974)Gtg>Atg	p.V1658M		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1658	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGGTTACCCACGTAACCTGGG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17245	0.0		0.0	False		,,,				2504	0.0					uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(4972-4974)GTG>ATG		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)	C	MET/VAL	8,4398	14.3+/-33.2	0,8,2195	37.0	35.0	36.0		4972	2.6	0.9	1	dbSNP_134	36	0,8600		0,0,4300	yes	missense	HSPG2	NM_005529.5	21	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	possibly-damaging	1658/4392	22186712	8,12998	2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22186712C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.4972G>A	1.37:g.22186712C>T	ENSP00000363827:p.Val1658Met					HSPG2_uc009vqd.2_Missense_Mutation_p.V1659M	p.V1658M	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	40	5012	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1658			Laminin EGF-like 11.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.4972G>A	CCDS30625.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.39	3.108568	0.56291	0.001816	0.0	ENSG00000142798	ENST00000374695	T	0.62498	0.02	4.49	2.58	0.30949	EGF-like, laminin (4);	0.626450	0.12358	U	0.475905	T	0.58250	0.2109	L	0.38838	1.175	0.22675	N	0.998866	D	0.54772	0.968	P	0.52189	0.692	T	0.45659	-0.9246	10	0.48119	T	0.1	.	6.5211	0.22275	0.0:0.7:0.0:0.3	.	1658	P98160	PGBM_HUMAN	M	1658	ENSP00000363827:V1658M	ENSP00000363827:V1658M	V	-	1	0	HSPG2	22059299	0.254000	0.23992	0.894000	0.35097	0.988000	0.76386	0.770000	0.26618	1.101000	0.41535	0.591000	0.81541	GTG		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	26	0	0	0	0	4	26				
TGFB2	7042	broad.mit.edu	37	1	218609454	218609454	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:218609454G>A	ENST00000366930.4	+	5	1364	c.897G>A	c.(895-897)cgG>cgA	p.R299R	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Silent_p.R327R	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	299			R -> W (in LDS4). {ECO:0000269|PubMed:22772368}.		activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CCAACCGGCGGAAGAAGCGTG	0.433																																						uc001hlm.2		NA																	0					0						c.(895-897)CGG>CGA		transforming growth factor, beta 2 isoform 2							87.0	82.0	83.0					1																	218609454		2203	4300	6503	SO:0001819	synonymous_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218609454G>A	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.897G>A	1.37:g.218609454G>A						TGFB2_uc001hln.2_Silent_p.R327R|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	p.R299R	NM_003238	NP_003229	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	5	1550	+			299					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.897G>A	CCDS1521.1																																																																																				0.433	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		6	70	0	0	0	0	6	70				
OR2T33	391195	broad.mit.edu	37	1	248436658	248436658	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr1:248436658G>A	ENST00000318021.2	-	1	480	c.459C>T	c.(457-459)gaC>gaT	p.D153D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAGGAGCCCGTCAGCTGCAC	0.587																																						uc010pzi.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(457-459)GAC>GAT		olfactory receptor, family 2, subfamily T,							107.0	102.0	104.0					1																	248436658		2203	4300	6503	SO:0001819	synonymous_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436658G>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.459C>T	1.37:g.248436658G>A							p.D153D	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	459	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		153			Helical; Name=4; (Potential).		B2RNN0	Silent	SNP	ENST00000318021.2	37	c.459C>T	CCDS31109.1																																																																																				0.587	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		9	118	0	0	0	0	9	118				
KAT6B	23522	broad.mit.edu	37	10	76789551	76789551	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr10:76789551G>C	ENST00000287239.4	+	18	5458	c.4969G>C	c.(4969-4971)Gat>Cat	p.D1657H	KAT6B_ENST00000372711.1_Missense_Mutation_p.D1474H|KAT6B_ENST00000372714.1_Missense_Mutation_p.D1365H|KAT6B_ENST00000372725.1_Missense_Mutation_p.D1365H|KAT6B_ENST00000372724.1_Missense_Mutation_p.D1365H	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1657	Interaction with RUNX1 and RUNX2.|Ser-rich.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ATCAGTTTCAGATCATTCACA	0.473																																						uc001jwn.1		NA								T					CREBBP		AML		0				central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(4969-4971)GAT>CAT		MYST histone acetyltransferase (monocytic							141.0	121.0	128.0					10																	76789551		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76789551G>C	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4969G>C	10.37:g.76789551G>C	ENSP00000287239:p.Asp1657His					MYST4_uc001jwo.1_Missense_Mutation_p.D1365H|MYST4_uc001jwp.1_Missense_Mutation_p.D1474H	p.D1657H	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			18	5462	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		1657			Ser-rich.|Interaction with RUNX1 and RUNX2.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.4969G>C	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549152	0.45383	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.88975	-2.36;-2.36;-2.45;-2.36;-2.44	5.17	5.17	0.71159	.	0.000000	0.51477	D	0.000086	D	0.91788	0.7402	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.92982	0.6407	10	0.87932	D	0	-11.68	18.656	0.91453	0.0:0.0:1.0:0.0	.	1474;1365;1657	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	H	1365;1365;1657;1365;1474	ENSP00000361810:D1365H;ENSP00000361809:D1365H;ENSP00000287239:D1657H;ENSP00000361799:D1365H;ENSP00000361796:D1474H	ENSP00000287239:D1657H	D	+	1	0	KAT6B	76459557	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	9.476000	0.97823	2.399000	0.81585	0.563000	0.77884	GAT		0.473	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		5	100	0	0	0	0	5	100				
OR52E2	119678	broad.mit.edu	37	11	5080386	5080386	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:5080386C>T	ENST00000321522.2	-	1	471	c.472G>A	c.(472-474)Gtc>Atc	p.V158I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGGGAATGACGAAAATTAAA	0.453																																						uc010qyw.1		NA																	0				ovary(2)|skin(1)	3						c.(472-474)GTC>ATC		olfactory receptor, family 52, subfamily E,							89.0	82.0	84.0					11																	5080386		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080386C>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.472G>A	11.37:g.5080386C>T	ENSP00000322088:p.Val158Ile						p.V158I	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	472	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	158			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000321522.2	37	c.472G>A	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	C	1.488	-0.555349	0.03967	.	.	ENSG00000176787	ENST00000321522	T	0.37411	1.2	3.77	1.87	0.25490	GPCR, rhodopsin-like superfamily (1);	0.471068	0.17922	N	0.157477	T	0.19127	0.0459	L	0.38733	1.17	0.09310	N	1	P	0.35481	0.504	B	0.26864	0.074	T	0.16541	-1.0399	10	0.09084	T	0.74	.	7.3088	0.26463	0.1694:0.7374:0.0:0.0931	.	158	Q8NGJ4	O52E2_HUMAN	I	158	ENSP00000322088:V158I	ENSP00000322088:V158I	V	-	1	0	OR52E2	5036962	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-2.138000	0.01303	0.579000	0.29504	0.650000	0.86243	GTC		0.453	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		4	20	0	0	0	0	4	20				
CHST1	8534	broad.mit.edu	37	11	45671747	45671747	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:45671747G>A	ENST00000308064.2	-	4	1397	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	243					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GTCTCGCTGCGCGAAGCCAGA	0.657																																						uc001mys.1		NA																	0				skin(4)|pancreas(1)	5						c.(727-729)CGC>TGC		carbohydrate (keratan sulfate Gal-6)							53.0	51.0	52.0					11																	45671747		2203	4299	6502	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671747G>A	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.727C>T	11.37:g.45671747G>A	ENSP00000309270:p.Arg243Cys						p.R243C	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1398	-			243			Lumenal (Potential).		D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.727C>T	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849274	0.71603	.	.	ENSG00000175264	ENST00000308064	T	0.81415	-1.49	4.98	4.98	0.66077	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.91540	0.7328	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93259	0.6641	10	0.72032	D	0.01	-19.1897	14.0439	0.64693	0.0:0.0:0.8485:0.1515	.	243	O43916	CHST1_HUMAN	C	243	ENSP00000309270:R243C	ENSP00000309270:R243C	R	-	1	0	CHST1	45628323	0.999000	0.42202	0.903000	0.35520	0.978000	0.69477	2.752000	0.47516	2.310000	0.77875	0.462000	0.41574	CGC		0.657	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		4	66	0	0	0	0	4	66				
OR8J3	81168	broad.mit.edu	37	11	55904529	55904529	+	Silent	SNP	A	A	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:55904529A>T	ENST00000301529.1	-	1	665	c.666T>A	c.(664-666)gtT>gtA	p.V222V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAATGGACAAAACAATATTGA	0.373																																						uc010riz.1		NA																	0				skin(2)	2						c.(664-666)GTT>GTA		olfactory receptor, family 8, subfamily J,							90.0	89.0	90.0					11																	55904529		2201	4296	6497	SO:0001819	synonymous_variant	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904529A>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.666T>A	11.37:g.55904529A>T							p.V222V	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	666	-	Esophageal squamous(21;0.00693)		222			Cytoplasmic (Potential).		Q6IFB6|Q96RC2	Silent	SNP	ENST00000301529.1	37	c.666T>A	CCDS31520.1																																																																																				0.373	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		5	89	0	0	0	0	5	89				
BBS1	582	broad.mit.edu	37	11	66278499	66278499	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:66278499G>A	ENST00000318312.7	+	2	114	c.63G>A	c.(61-63)tcG>tcA	p.S21S	BBS1_ENST00000537537.1_5'UTR|BBS1_ENST00000455748.2_Silent_p.S21S|CTD-3074O7.11_ENST00000419755.3_Silent_p.S58S|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Silent_p.S21S	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	21					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						AGGCCAATTCGAAGTGGTTGG	0.527									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	uc001oij.1		NA																	0				ovary(1)	1						c.(61-63)TCG>TCA		Bardet-Biedl syndrome 1							208.0	206.0	207.0					11																	66278499		2200	4295	6495	SO:0001819	synonymous_variant	582	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding	g.chr11:66278499G>A	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.63G>A	11.37:g.66278499G>A						BBS1_uc001oii.1_Silent_p.S58S|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Silent_p.S21S|BBS1_uc001oik.1_5'UTR|BBS1_uc001oil.1_Silent_p.S21S	p.S21S	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN			2	75	+			21					Q32MM9|Q32MN0|Q96SN4	Silent	SNP	ENST00000318312.7	37	c.63G>A	CCDS8142.1																																																																																				0.527	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			19	210	0	0	0	0	19	210				
IGSF9B	22997	broad.mit.edu	37	11	133791120	133791120	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr11:133791120C>T	ENST00000321016.8	-	18	2730	c.2500G>A	c.(2500-2502)Gtg>Atg	p.V834M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V834M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	834					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCTTGGCCACGCTGTACTTC	0.657																																						uc001qgx.3		NA																	0					0						c.(2500-2502)GTG>ATG		immunoglobulin superfamily, member 9B							70.0	73.0	72.0					11																	133791120		2164	4261	6425	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133791120C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2500G>A	11.37:g.133791120C>T	ENSP00000317980:p.Val834Met						p.V834M	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	2731	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	834			Cytoplasmic (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2500G>A		.	.	.	.	.	.	.	.	.	.	C	17.03	3.285642	0.59867	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.69685	-0.09;-0.42	4.47	4.47	0.54385	.	0.000000	0.40302	N	0.001125	T	0.77658	0.4163	L	0.51422	1.61	0.51767	D	0.999937	D	0.89917	1.0	D	0.76575	0.988	T	0.79694	-0.1696	10	0.59425	D	0.04	.	16.9242	0.86172	0.0:1.0:0.0:0.0	.	834	Q9UPX0	TUTLB_HUMAN	M	834;676	ENSP00000317980:V834M;ENSP00000436552:V676M	ENSP00000317980:V834M	V	-	1	0	IGSF9B	133296330	1.000000	0.71417	0.993000	0.49108	0.489000	0.33432	7.289000	0.78701	2.320000	0.78422	0.561000	0.74099	GTG		0.657	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		3	40	0	0	0	0	3	40				
KCNA6	3742	broad.mit.edu	37	12	4920108	4920108	+	Silent	SNP	T	T	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:4920108T>C	ENST00000280684.3	+	1	1767	c.901T>C	c.(901-903)Ttg>Ctg	p.L301L	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Silent_p.L301L			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	301					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CATCATTGACTTGGTGGCTAT	0.582										HNSCC(72;0.22)																												uc001qng.2		NA																	0				skin(2)|ovary(1)	3						c.(901-903)TTG>CTG		potassium voltage-gated channel, shaker-related							93.0	82.0	86.0					12																	4920108		2203	4300	6503	SO:0001819	synonymous_variant	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920108T>C	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.901T>C	12.37:g.4920108T>C		HNSCC(72;0.22)					p.L301L	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	1767	+			301			Helical; Name=Segment S3; (Potential).			Silent	SNP	ENST00000280684.3	37	c.901T>C	CCDS8534.1																																																																																				0.582	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		23	63	0	0	0	0	23	63				
PZP	5858	broad.mit.edu	37	12	9318713	9318713	+	Silent	SNP	C	C	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:9318713C>A	ENST00000261336.2	-	18	2221	c.2193G>T	c.(2191-2193)ggG>ggT	p.G731G	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Silent_p.G600G	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	731	Bait region.				female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CAGGGACTGGCCCTGAACTTT	0.428																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(2191-2193)GGG>GGT		pregnancy-zone protein precursor							138.0	129.0	132.0					12																	9318713		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9318713C>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2193G>T	12.37:g.9318713C>A						PZP_uc009zgl.2_Silent_p.G600G|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Silent_p.G63G	p.G731G	NM_002864	NP_002855					18	2222	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.2193G>T	CCDS8600.1																																																																																				0.428	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		14	104	1	0	6.32e-08	7.04e-08	14	104				
TMEM120B	144404	broad.mit.edu	37	12	122211410	122211410	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:122211410C>G	ENST00000449592.2	+	9	864	c.763C>G	c.(763-765)Ctc>Gtc	p.L255V	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	255						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CCACCTGGATCTCACAGTGGG	0.652											OREG0022206	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ubc.3		NA																	0					0						c.(763-765)CTC>GTC		transmembrane protein 120B							33.0	41.0	38.0					12																	122211410		1896	4110	6006	SO:0001583	missense	144404					integral to membrane		g.chr12:122211410C>G	BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.763C>G	12.37:g.122211410C>G	ENSP00000404991:p.Leu255Val		OREG0022206	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1517	TMEM120B_uc009zxh.2_Missense_Mutation_p.L255V|TMEM120B_uc001uba.1_5'Flank	p.L255V	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)	9	907	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		255					A0PK01|B3KX33	Missense_Mutation	SNP	ENST00000449592.2	37	c.763C>G	CCDS41852.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322279	0.81580	.	.	ENSG00000188735	ENST00000449592;ENST00000541467	T;T	0.29655	1.56;1.56	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	L	0.49699	1.58	0.80722	D	1	D	0.67145	0.996	D	0.66084	0.941	T	0.12528	-1.0544	10	0.11794	T	0.64	-27.1799	18.8668	0.92294	0.0:1.0:0.0:0.0	.	255	A0PK00	T120B_HUMAN	V	255;234	ENSP00000404991:L255V;ENSP00000442105:L234V	ENSP00000345152:L255V	L	+	1	0	TMEM120B	120695793	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	7.676000	0.84012	2.767000	0.95098	0.655000	0.94253	CTC		0.652	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	NM_001080825		5	18	0	0	0	0	5	18				
PITPNM2	57605	broad.mit.edu	37	12	123482002	123482002	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr12:123482002C>T	ENST00000542749.1	-	9	1405	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	PITPNM2_ENST00000320201.4_Missense_Mutation_p.D448N|PITPNM2_ENST00000451868.2_5'Flank|PITPNM2_ENST00000280562.5_Missense_Mutation_p.D448N|PITPNM2_ENST00000392428.1_Missense_Mutation_p.D169N			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	448					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGTTAGCATCGCCCTTCTTG	0.682																																						uc001uej.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1342-1344)GAT>AAT		phosphatidylinositol transfer protein,							131.0	116.0	121.0					12																	123482002		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123482002C>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1342G>A	12.37:g.123482002C>T	ENSP00000437611:p.Asp448Asn					PITPNM2_uc001uek.1_Missense_Mutation_p.D448N	p.D448N	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	10	1481	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		448					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1342G>A	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661410	0.88154	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.61173	-0.7116	10	0.62326	D	0.03	-42.4201	17.9593	0.89079	0.0:1.0:0.0:0.0	.	448;448	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	N	448;448;169;448	ENSP00000280562:D448N;ENSP00000322218:D448N;ENSP00000376223:D169N;ENSP00000437611:D448N	ENSP00000280562:D448N	D	-	1	0	PITPNM2	122047955	1.000000	0.71417	0.584000	0.28653	0.289000	0.27227	7.791000	0.85805	2.235000	0.73313	0.563000	0.77884	GAT		0.682	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		12	89	0	0	0	0	12	89				
GOLGA6A	342096	broad.mit.edu	37	15	74368258	74368258	+	Silent	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr15:74368258C>T	ENST00000290438.3	-	8	673	c.633G>A	c.(631-633)ctG>ctA	p.L211L		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	211						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						CGTGTGCGTTCAGCAGCGCCC	0.582																																						uc002axa.1		NA																	0					0						c.(631-633)CTG>CTA		golgi autoantigen, golgin subfamily a, 6							51.0	62.0	58.0					15																	74368258		2154	4257	6411	SO:0001819	synonymous_variant	342096							g.chr15:74368258C>T	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.633G>A	15.37:g.74368258C>T							p.L211L	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN			8	674	-			211			Potential.		A8K959|Q9NYA7	Silent	SNP	ENST00000290438.3	37	c.633G>A	CCDS32290.1																																																																																				0.582	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		5	76	0	0	0	0	5	76				
ABCC11	85320	broad.mit.edu	37	16	48211016	48211016	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr16:48211016G>A	ENST00000394747.1	-	24	3706	c.3357C>T	c.(3355-3357)gtC>gtT	p.V1119V	ABCC11_ENST00000353782.5_Silent_p.V1119V|ABCC11_ENST00000356608.2_Silent_p.V1119V|ABCC11_ENST00000394748.1_Silent_p.V1119V|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1119					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GAGCTTCCGAGACACACATCT	0.483																																						uc002eff.1		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3355-3357)GTC>GTT		ATP-binding cassette, sub-family C, member 11							106.0	99.0	101.0					16																	48211016		2201	4300	6501	SO:0001819	synonymous_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48211016G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3357C>T	16.37:g.48211016G>A						ABCC11_uc002efg.1_Silent_p.V1119V|ABCC11_uc002efh.1_Silent_p.V1119V|ABCC11_uc010cbg.1_RNA	p.V1119V	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			24	3707	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1119			Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.3357C>T	CCDS10732.1																																																																																				0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		5	54	0	0	0	0	5	54				
HIC1	3090	broad.mit.edu	37	17	1960080	1960080	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:1960080C>G	ENST00000322941.3	+	2	153	c.153C>G	c.(151-153)atC>atG	p.I51M	HIC1_ENST00000399849.3_Missense_Mutation_p.I32M	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	51	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		ACGTGATCATCGTGGTGCAGA	0.632																																						uc010cjy.2		NA																	0				large_intestine(1)	1						c.(151-153)ATC>ATG		hypermethylated in cancer 1 isoform 2							39.0	42.0	41.0					17																	1960080		2145	4270	6415	SO:0001583	missense	3090				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:1960080C>G		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.153C>G	17.37:g.1960080C>G	ENSP00000314080:p.Ile51Met					HIC1_uc002fty.3_Missense_Mutation_p.I32M|HIC1_uc002ftz.3_Missense_Mutation_p.I32M	p.I51M	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN		READ - Rectum adenocarcinoma(1115;0.236)	2	153	+			51			BTB.		D3DTI4	Missense_Mutation	SNP	ENST00000322941.3	37	c.153C>G	CCDS42229.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184483	0.38609	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.27557	1.66;1.66	4.06	4.06	0.47325	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.53786	0.1818	M	0.85542	2.76	0.42680	D	0.993542	D	0.71674	0.998	D	0.74023	0.982	T	0.59236	-0.7492	9	0.87932	D	0	.	6.8564	0.24042	0.0:0.7221:0.1803:0.0975	.	51	Q14526	HIC1_HUMAN	M	32;51	ENSP00000382742:I32M;ENSP00000314080:I51M	ENSP00000314080:I51M	I	+	3	3	HIC1	1906830	0.854000	0.29725	1.000000	0.80357	0.997000	0.91878	-0.044000	0.12023	2.100000	0.63781	0.561000	0.74099	ATC		0.632	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		5	30	0	0	0	0	5	30				
ZNF232	7775	broad.mit.edu	37	17	5012303	5012303	+	Silent	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:5012303C>T	ENST00000250076.3	-	4	1197	c.543G>A	c.(541-543)gaG>gaA	p.E181E	AC012146.7_ENST00000413077.1_RNA|ZNF232_ENST00000575898.1_Silent_p.E181E|AC012146.7_ENST00000571138.1_RNA|ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	154					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						ATTCCTTCTTCTCCCATGGCT	0.532																																						uc002gas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(460-462)GAG>GAA		zinc finger protein 232							119.0	117.0	118.0					17																	5012303		2203	4300	6503	SO:0001819	synonymous_variant	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5012303C>T	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.543G>A	17.37:g.5012303C>T						ZNF232_uc002gar.1_Silent_p.E181E|ZNF232_uc002gat.2_Silent_p.E181E|ZNF232_uc010vsv.1_3'UTR	p.E154E	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN			4	1216	-			154						Silent	SNP	ENST00000250076.3	37	c.462G>A	CCDS11068.1																																																																																				0.532	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		12	150	0	0	0	0	12	150				
TP53	7157	broad.mit.edu	37	17	7578247	7578247	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:7578247A>T	ENST00000269305.4	-	6	791	c.602T>A	c.(601-603)tTg>tAg	p.L201*	TP53_ENST00000445888.2_Nonsense_Mutation_p.L201*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.L201*|TP53_ENST00000420246.2_Nonsense_Mutation_p.L201*|TP53_ENST00000359597.4_Nonsense_Mutation_p.L201*|TP53_ENST00000455263.2_Nonsense_Mutation_p.L201*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	201	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; somatic mutation).|LR -> FC (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(5)|p.N200fs*4(1)|p.L201P(1)|p.L201S(1)|p.E198fs*7(1)|p.L201fs*46(1)|p.P191fs*6(1)|p.G199fs*42(1)|p.L201*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCCACACGCAAATTTCCTTC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		21	Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)|Substitution - Missense(2)|Substitution - Nonsense(1)|Complex - frameshift(1)	p.0?(7)|p.L201F(7)|p.L201fs*46(4)|p.K164_P219del(1)|p.E198_L201>V(1)|p.N200fs*4(1)|p.L201P(1)|p.L201S(1)|p.E198fs*7(1)|p.L201fs*8(1)|p.P191fs*6(1)|p.L201_R202>FC(1)|p.L201L(1)|p.G199fs*42(1)|p.L201*(1)	biliary_tract(5)|bone(4)|upper_aerodigestive_tract(2)|central_nervous_system(2)|oesophagus(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(601-603)TTG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							121.0	108.0	112.0					17																	7578247		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578247A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.602T>A	17.37:g.7578247A>T	ENSP00000269305:p.Leu201*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.L201*|TP53_uc002gih.2_Nonsense_Mutation_p.L201*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.L69*|TP53_uc010cng.1_Nonsense_Mutation_p.L69*|TP53_uc002gii.1_Nonsense_Mutation_p.L69*|TP53_uc010cnh.1_Nonsense_Mutation_p.L201*|TP53_uc010cni.1_Nonsense_Mutation_p.L201*|TP53_uc002gij.2_Nonsense_Mutation_p.L201*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.L108*|TP53_uc002gio.2_Nonsense_Mutation_p.L69*|TP53_uc010vug.1_Nonsense_Mutation_p.L162*	p.L201*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	796	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	201		L -> S (in a sporadic cancer; somatic mutation).|LR -> FC (in a sporadic cancer; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.602T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.410235	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	-1.14	0.09741	.	0.429411	0.24229	N	0.040372	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0503	0.2449	0.00197	0.374:0.1415:0.2232:0.2612	.	.	.	.	X	201;201;201;201;201;201;190;108;69;108;69	.	ENSP00000269305:L201X	L	-	2	0	TP53	7518972	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.120000	0.10660	-0.188000	0.10499	0.533000	0.62120	TTG		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	43	0	0	0	0	10	43				
NF1	4763	broad.mit.edu	37	17	29557872	29557872	+	Silent	SNP	A	A	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:29557872A>G	ENST00000358273.4	+	24	3509	c.3126A>G	c.(3124-3126)gtA>gtG	p.V1042V	NF1_ENST00000356175.3_Silent_p.V1042V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1042					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.V1042fs*17(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATAAGATGGTAGAATACCTGA	0.368			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(4)|Complex - frameshift(1)	p.?(2)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(3124-3126)GTA>GTG		neurofibromin isoform 1							47.0	45.0	46.0					17																	29557872		2203	4296	6499	SO:0001819	synonymous_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29557872A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3126A>G	17.37:g.29557872A>G		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Silent_p.V1042V|NF1_uc010csn.1_Silent_p.V902V|NF1_uc002hgi.1_Silent_p.V75V	p.V1042V	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	24	3459	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1042					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.3126A>G	CCDS42292.1																																																																																				0.368	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		3	34	0	0	0	0	3	34				
PITPNC1	26207	broad.mit.edu	37	17	65548417	65548417	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr17:65548417A>G	ENST00000581322.1	+	3	242	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	PITPNC1_ENST00000335257.6_Missense_Mutation_p.Y81C|PITPNC1_ENST00000580974.1_Missense_Mutation_p.Y81C|PITPNC1_ENST00000299954.9_Missense_Mutation_p.Y81C			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	81					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AAAATATTTTATGTGACAGAG	0.413																																						uc002jgc.2		NA																	0				skin(1)	1						c.(241-243)TAT>TGT		phosphatidylinositol transfer protein,							126.0	121.0	123.0					17																	65548417		1897	4132	6029	SO:0001583	missense	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65548417A>G	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.242A>G	17.37:g.65548417A>G	ENSP00000464006:p.Tyr81Cys					PITPNC1_uc002jgb.2_Missense_Mutation_p.Y81C	p.Y81C	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		3	589	+	all_cancers(12;3.03e-10)		81					A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	ENST00000581322.1	37	c.242A>G	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.264625	0.40095	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	T;T	0.45276	0.9;0.9	5.74	5.74	0.90152	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.70472	-0.4862	10	0.42905	T	0.14	-18.6108	15.3236	0.74141	1.0:0.0:0.0:0.0	.	81;81	Q9UKF7;Q9UKF7-2	PITC1_HUMAN;.	C	81	ENSP00000335618:Y81C;ENSP00000299954:Y81C	ENSP00000299954:Y81C	Y	+	2	0	PITPNC1	62978879	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.474000	0.90413	2.317000	0.78254	0.460000	0.39030	TAT		0.413	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		8	63	0	0	0	0	8	63				
PLEKHG2	64857	broad.mit.edu	37	19	39913429	39913429	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:39913429G>A	ENST00000409794.3	+	18	2585	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.E550K|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E520K	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	579					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGCGACAGCGAAACCCTCAC	0.587																																						uc010xuz.1		NA																	0				skin(2)|pancreas(1)|breast(1)	4						c.(1735-1737)GAA>AAA		common-site lymphoma/leukemia guanine nucleotide							60.0	54.0	56.0					19																	39913429		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39913429G>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1735G>A	19.37:g.39913429G>A	ENSP00000386733:p.Glu579Lys					PLEKHG2_uc010xuy.1_Missense_Mutation_p.E520K|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.E357K	p.E579K	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		18	2060	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		579					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1735G>A	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923084	0.73213	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508	T;T;T	0.70869	-0.39;-0.41;-0.52	5.13	0.602	0.17535	.	1.260380	0.05571	N	0.571113	T	0.53610	0.1807	N	0.24115	0.695	0.09310	N	1	P;P;P	0.47545	0.89;0.893;0.897	B;B;B	0.36845	0.234;0.2;0.164	T	0.49826	-0.8898	10	0.72032	D	0.01	.	7.4703	0.27344	0.3473:0.0:0.6527:0.0	.	550;579;520	Q9H7P9-3;Q9H7P9;E7ESZ3	.;PKHG2_HUMAN;.	K	579;550;520	ENSP00000386733:E579K;ENSP00000392906:E550K;ENSP00000408857:E520K	ENSP00000386733:E579K	E	+	1	0	PLEKHG2	44605269	0.000000	0.05858	0.000000	0.03702	0.601000	0.36947	0.484000	0.22308	0.027000	0.15297	0.591000	0.81541	GAA		0.587	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		4	57	0	0	0	0	4	57				
FGF21	26291	broad.mit.edu	37	19	49261276	49261276	+	Silent	SNP	G	G	A	rs371287829	byFrequency	TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:49261276G>A	ENST00000593756.1	+	4	1001	c.429G>A	c.(427-429)ccG>ccA	p.P143P	FUT1_ENST00000310160.3_5'Flank|FGF21_ENST00000222157.3_Silent_p.P143P			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	143					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ACGGCCTCCCGCTGCACCTGC	0.652													G|||	5	0.000998403	0.0	0.0	5008	,	,		9217	0.005		0.0	False		,,,				2504	0.0					uc002pkn.1		NA																	0				breast(1)	1						c.(427-429)CCG>CCA		fibroblast growth factor 21 precursor		G		0,4406		0,0,2203	65.0	73.0	70.0		429	-8.9	0.0	19		70	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	FGF21	NM_019113.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		143/210	49261276	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	26291				cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity	g.chr19:49261276G>A	AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.429G>A	19.37:g.49261276G>A						FUT1_uc002pkk.2_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.P143P	p.P143P	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	4	1001	+		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	143					Q8N683	Silent	SNP	ENST00000593756.1	37	c.429G>A	CCDS12734.1																																																																																				0.652	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1			21	89	0	0	0	0	21	89				
PPP1R12C	54776	broad.mit.edu	37	19	55623923	55623923	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:55623923G>A	ENST00000263433.3	-	3	498	c.483C>T	c.(481-483)gcC>gcT	p.A161A	PPP1R12C_ENST00000435544.2_Silent_p.A87A|PPP1R12C_ENST00000376393.2_Silent_p.A161A	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TGTTGACGGCGGCGATGTTGG	0.731																																						uc002qix.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(481-483)GCC>GCT		protein phosphatase 1, regulatory subunit 12C							25.0	29.0	28.0					19																	55623923		2203	4297	6500	SO:0001819	synonymous_variant	54776					cytoplasm		g.chr19:55623923G>A	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.483C>T	19.37:g.55623923G>A						PPP1R12C_uc010yfs.1_Silent_p.A87A|PPP1R12C_uc002qiy.2_Silent_p.A161A	p.A161A	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	3	499	-			161			ANK 2.			Silent	SNP	ENST00000263433.3	37	c.483C>T	CCDS12916.1																																																																																				0.731	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		10	20	0	0	0	0	10	20				
DNAAF3	352909	broad.mit.edu	37	19	55670503	55670503	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:55670503G>A	ENST00000524407.2	-	12	1586	c.1553C>T	c.(1552-1554)tCa>tTa	p.S518L	DNAAF3_ENST00000527223.2_Missense_Mutation_p.S585L|CTD-2587H24.4_ENST00000587871.1_Intron|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Missense_Mutation_p.S464L|TNNI3_ENST00000588882.1_5'Flank|TNNI3_ENST00000590463.1_5'Flank|DNAAF3_ENST00000391720.4_Missense_Mutation_p.S565L|TNNI3_ENST00000344887.5_5'Flank|DNAAF3_ENST00000587789.2_5'UTR			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	518					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CAGAACCTCTGAGAGTGAACC	0.627																																						uc002qji.1		NA																	0					0						c.(1552-1554)TCA>TTA		RecName: Full=UPF0470 protein C19orf51;							25.0	27.0	27.0					19																	55670503		1861	4115	5976	SO:0001583	missense	352909							g.chr19:55670503G>A	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1553C>T	19.37:g.55670503G>A	ENSP00000432046:p.Ser518Leu					TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.S333L|C19orf51_uc002qjj.1_Missense_Mutation_p.S565L|C19orf51_uc002qjk.1_Missense_Mutation_p.S464L|C19orf51_uc002qjl.1_Missense_Mutation_p.S585L	p.S518L			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	12	1587	-			518					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.1553C>T	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	g	0.714	-0.785916	0.02907	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.18502	2.24;2.21	3.77	-5.6	0.02497	.	2.815840	0.01551	N	0.019684	T	0.07369	0.0186	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.36040	-0.9764	10	0.02654	T	1	0.6382	6.9986	0.24797	0.575:0.1344:0.2906:0.0	.	585;464;538;518	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	L	585;464;565	ENSP00000394343:S464L;ENSP00000375600:S565L	ENSP00000301249:S585L	S	-	2	0	C19orf51	60362315	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.070000	0.11523	-0.967000	0.03582	-0.319000	0.08680	TCA		0.627	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		8	47	0	0	0	0	8	47				
NLRP4	147945	broad.mit.edu	37	19	56369450	56369450	+	Missense_Mutation	SNP	G	G	A	rs201148110		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr19:56369450G>A	ENST00000301295.6	+	3	1113	c.691G>A	c.(691-693)Gac>Aac	p.D231N	NLRP4_ENST00000346986.5_Missense_Mutation_p.D231N|NLRP4_ENST00000587891.1_Missense_Mutation_p.D156N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	231	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTTCGTCATCGACAGCTTCGA	0.547																																						uc002qmd.3		NA																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(691-693)GAC>AAC		NLR family, pyrin domain containing 4							82.0	82.0	82.0					19																	56369450		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369450G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.691G>A	19.37:g.56369450G>A	ENSP00000301295:p.Asp231Asn					NLRP4_uc002qmf.2_Missense_Mutation_p.D156N|NLRP4_uc010etf.2_Missense_Mutation_p.D62N	p.D231N	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1113	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	231			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.691G>A	CCDS12936.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.53	3.644086	0.67244	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.97870	-4.58;-4.58	4.1	4.1	0.47936	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.98795	0.9594	M	0.90369	3.11	0.41341	D	0.9873	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.99585	1.0974	9	0.87932	D	0	.	14.2148	0.65786	0.0:0.0:1.0:0.0	.	231;156;231	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	N	231	ENSP00000301295:D231N;ENSP00000344787:D231N	ENSP00000301295:D231N	D	+	1	0	NLRP4	61061262	1.000000	0.71417	0.036000	0.18154	0.292000	0.27327	6.735000	0.74806	2.278000	0.76064	0.655000	0.94253	GAC		0.547	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		7	92	0	0	0	0	7	92				
TTN	7273	broad.mit.edu	37	2	179659934	179659934	+	Silent	SNP	A	A	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr2:179659934A>G	ENST00000591111.1	-	7	1184	c.960T>C	c.(958-960)tcT>tcC	p.S320S	TTN_ENST00000359218.5_Silent_p.S320S|TTN_ENST00000360870.5_Silent_p.S320S|TTN_ENST00000589042.1_Silent_p.S320S|TTN_ENST00000342175.6_Silent_p.S320S|TTN_ENST00000460472.2_Silent_p.S320S|TTN_ENST00000342992.6_Silent_p.S320S			Q8WZ42	TITIN_HUMAN	titin	0	ZIS1.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGACCTAACAGACCTGATGG	0.547																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(958-960)TCT>TCC		titin isoform N2-A							94.0	87.0	89.0					2																	179659934		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179659934A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.960T>C	2.37:g.179659934A>G						TTN_uc010zfh.1_Silent_p.S320S|TTN_uc010zfi.1_Silent_p.S320S|TTN_uc010zfj.1_Silent_p.S320S|TTN_uc002unb.2_Silent_p.S320S|TTN_uc010frg.1_5'UTR	p.S320S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		7	1184	-			320					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.960T>C																																																																																					0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	60	0	0	0	0	10	60				
ARMC9	80210	broad.mit.edu	37	2	232081457	232081457	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr2:232081457C>T	ENST00000349938.4	+	5	649	c.455C>T	c.(454-456)cCt>cTt	p.P152L	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	152						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TATGCCCTTCCTTTTGTTCCC	0.463																																						uc002vrq.3		NA																	0				ovary(1)	1						c.(454-456)CCT>CTT		armadillo repeat containing 9							209.0	190.0	196.0					2																	232081457		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232081457C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.455C>T	2.37:g.232081457C>T	ENSP00000258417:p.Pro152Leu					ARMC9_uc002vrp.3_Missense_Mutation_p.P152L	p.P152L	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	5	567	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	152					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.455C>T	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327304	0.95708	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	T;T	0.19669	2.13;2.13	5.5	5.5	0.81552	.	0.052589	0.85682	D	0.000000	T	0.52075	0.1712	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56323	-0.7998	10	0.87932	D	0	-17.3608	19.3894	0.94574	0.0:1.0:0.0:0.0	.	152	Q7Z3E5	ARMC9_HUMAN	L	152	ENSP00000258417:P152L;ENSP00000387391:P152L	ENSP00000258417:P152L	P	+	2	0	ARMC9	231789701	1.000000	0.71417	0.983000	0.44433	0.998000	0.95712	7.536000	0.82023	2.573000	0.86826	0.655000	0.94253	CCT		0.463	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		9	141	0	0	0	0	9	141				
JAG1	182	broad.mit.edu	37	20	10626068	10626068	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:10626068G>A	ENST00000254958.5	-	16	2564	c.2049C>T	c.(2047-2049)cgC>cgT	p.R683R	JAG1_ENST00000423891.2_Silent_p.R524R|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	683	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGACCAGGTCGCGACACGTGC	0.502									Alagille Syndrome																													uc002wnw.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(2047-2049)CGC>CGT		jagged 1 precursor							130.0	124.0	126.0					20																	10626068		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10626068G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2049C>T	20.37:g.10626068G>A						JAG1_uc010gcd.1_Silent_p.R241R	p.R683R	NM_000214	NP_000205	P78504	JAG1_HUMAN			16	2565	-			683			EGF-like 12; calcium-binding (Potential).|Extracellular (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.2049C>T	CCDS13112.1																																																																																				0.502	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		18	89	0	0	0	0	18	89				
PHF20	51230	broad.mit.edu	37	20	34519268	34519268	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:34519268G>C	ENST00000374012.3	+	15	2331	c.2202G>C	c.(2200-2202)caG>caC	p.Q734H	PHF20_ENST00000439301.1_3'UTR|RNU6-937P_ENST00000384325.1_RNA			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	734					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ACTCCCATCAGAATGCCAAGA	0.517																																						uc002xek.1		NA																	0				ovary(1)	1						c.(2200-2202)CAG>CAC		PHD finger protein 20							127.0	109.0	115.0					20																	34519268		2203	4300	6503	SO:0001583	missense	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34519268G>C	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2202G>C	20.37:g.34519268G>C	ENSP00000363124:p.Gln734His						p.Q734H	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			15	2313	+	Breast(12;0.00631)|all_lung(11;0.0145)		734					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.2202G>C	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194503	0.58017	.	.	ENSG00000025293	ENST00000374012	T	0.35605	1.3	5.02	4.08	0.47627	.	0.111854	0.64402	D	0.000005	T	0.53190	0.1781	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.55431	-0.8142	10	0.72032	D	0.01	.	10.9271	0.47197	0.1506:0.0:0.8494:0.0	.	734	Q9BVI0	PHF20_HUMAN	H	734	ENSP00000363124:Q734H	ENSP00000363124:Q734H	Q	+	3	2	PHF20	33982682	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.408000	0.44574	1.334000	0.45468	-0.149000	0.13747	CAG		0.517	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		7	79	0	0	0	0	7	79				
PHF20	51230	broad.mit.edu	37	20	34519277	34519277	+	Silent	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:34519277G>A	ENST00000374012.3	+	15	2340	c.2211G>A	c.(2209-2211)aaG>aaA	p.K737K	PHF20_ENST00000439301.1_3'UTR|RNU6-937P_ENST00000384325.1_RNA			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	737					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AGAATGCCAAGAAGATCGTGG	0.522																																						uc002xek.1		NA																	0				ovary(1)	1						c.(2209-2211)AAG>AAA		PHD finger protein 20							124.0	108.0	113.0					20																	34519277		2203	4300	6503	SO:0001819	synonymous_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34519277G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2211G>A	20.37:g.34519277G>A							p.K737K	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			15	2322	+	Breast(12;0.00631)|all_lung(11;0.0145)		737					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	ENST00000374012.3	37	c.2211G>A	CCDS13268.1																																																																																				0.522	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		7	81	0	0	0	0	7	81				
C20orf85	128602	broad.mit.edu	37	20	56728608	56728608	+	Missense_Mutation	SNP	G	G	A	rs16984945	byFrequency	TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr20:56728608G>A	ENST00000371168.3	+	2	138	c.77G>A	c.(76-78)cGt>cAt	p.R26H		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	26			R -> H (in dbSNP:rs16984945).					p.R26L(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AGGAAATACCGTCTGAAGGCT	0.483													G|||	39	0.00778754	0.0287	0.0014	5008	,	,		18716	0.0		0.0	False		,,,				2504	0.0					uc002xyv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(76-78)CGT>CAT		hypothetical protein LOC128602		G	HIS/ARG	84,4322	71.4+/-109.4	0,84,2119	99.0	103.0	102.0		77	4.9	1.0	20	dbSNP_123	102	5,8595	5.0+/-18.6	0,5,4295	yes	missense	C20orf85	NM_178456.2	29	0,89,6414	AA,AG,GG		0.0581,1.9065,0.6843	benign	26/138	56728608	89,12917	2203	4300	6503	SO:0001583	missense	128602							g.chr20:56728608G>A	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.77G>A	20.37:g.56728608G>A	ENSP00000360210:p.Arg26His						p.R26H	NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		2	115	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		26						Missense_Mutation	SNP	ENST00000371168.3	37	c.77G>A	CCDS13465.1	10	0.004578754578754579	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	0	0.0	G	10.76	1.440189	0.25900	0.019065	5.81E-4	ENSG00000124237	ENST00000371168	T	0.18174	2.23	5.82	4.87	0.63330	.	0.106722	0.46758	D	0.000272	T	0.04048	0.0113	N	0.20986	0.625	0.34849	D	0.741426	B	0.29531	0.247	B	0.24541	0.054	T	0.22765	-1.0207	10	0.14252	T	0.57	-10.1333	6.9718	0.24652	0.1825:0.0:0.8175:0.0	rs16984945;rs52810072;rs16984945	26	Q9H1P6	CT085_HUMAN	H	26	ENSP00000360210:R26H	ENSP00000360210:R26H	R	+	2	0	C20orf85	56162014	0.060000	0.20803	0.998000	0.56505	0.808000	0.45660	1.285000	0.33261	2.760000	0.94817	0.655000	0.94253	CGT		0.483	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		21	173	0	0	0	0	21	173				
TMPRSS15	5651	broad.mit.edu	37	21	19666941	19666941	+	Missense_Mutation	SNP	G	G	A	rs140721787		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr21:19666941G>A	ENST00000284885.3	-	20	2323	c.2290C>T	c.(2290-2292)Cgg>Tgg	p.R764W		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	764	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACTGTAACCGAATCAAGGAA	0.284																																						uc002ykw.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(2290-2292)CGG>TGG		enterokinase precursor		G	TRP/ARG	0,4406		0,0,2203	83.0	86.0	85.0		2290	3.6	0.3	21	dbSNP_134	85	1,8597		0,1,4298	no	missense	TMPRSS15	NM_002772.2	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	764/1020	19666941	1,13003	2203	4299	6502	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666941G>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2290C>T	21.37:g.19666941G>A	ENSP00000284885:p.Arg764Trp						p.R764W	NM_002772	NP_002763	P98073	ENTK_HUMAN			20	2321	-			764			Extracellular (Potential).|SRCR.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2290C>T	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	9.911	1.209431	0.22289	0.0	1.16E-4	ENSG00000154646	ENST00000284885	T	0.28895	1.59	5.42	3.6	0.41247	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.610185	0.16567	N	0.208804	T	0.18467	0.0443	N	0.08118	0	0.22968	N	0.998499	P	0.52316	0.952	P	0.46975	0.533	T	0.04976	-1.0914	9	.	.	.	.	8.4484	0.32856	0.0811:0.0:0.7651:0.1538	.	764	P98073	ENTK_HUMAN	W	764	ENSP00000284885:R764W	.	R	-	1	2	TMPRSS15	18588812	0.000000	0.05858	0.302000	0.25058	0.015000	0.08874	-0.607000	0.05648	0.822000	0.34565	0.643000	0.83706	CGG		0.284	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		7	101	0	0	0	0	7	101				
CCDC116	164592	broad.mit.edu	37	22	21989343	21989343	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:21989343G>A	ENST00000292779.3	+	4	1152	c.991G>A	c.(991-993)Gac>Aac	p.D331N	CCDC116_ENST00000607942.1_Missense_Mutation_p.D331N	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	331										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCACTGCCGCGACGGCCGTCC	0.657																																						uc002zve.2		NA																	0				ovary(1)|skin(1)	2						c.(991-993)GAC>AAC		coiled-coil domain containing 116							35.0	37.0	36.0					22																	21989343		2203	4300	6503	SO:0001583	missense	164592							g.chr22:21989343G>A	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.991G>A	22.37:g.21989343G>A	ENSP00000292779:p.Asp331Asn					CCDC116_uc011aih.1_Missense_Mutation_p.D331N	p.D331N	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN			4	1084	+	Colorectal(54;0.105)		331					Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	c.991G>A	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	G	7.917	0.737820	0.15574	.	.	ENSG00000161180	ENST00000292779	T	0.09723	2.95	4.39	-5.37	0.02681	.	0.774566	0.11600	N	0.547822	T	0.05273	0.0140	N	0.16743	0.435	0.09310	N	1	B;B	0.23854	0.054;0.092	B;B	0.24155	0.016;0.051	T	0.44128	-0.9348	10	0.11794	T	0.64	-50.7958	11.4121	0.49931	0.7506:0.0:0.2494:0.0	.	331;331	B7Z7H5;Q8IYX3-2	.;.	N	331	ENSP00000292779:D331N	ENSP00000292779:D331N	D	+	1	0	CCDC116	20319343	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.931000	0.03967	-1.127000	0.02925	-0.224000	0.12420	GAC		0.657	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		6	41	0	0	0	0	6	41				
CDC42EP1	11135	broad.mit.edu	37	22	37964720	37964720	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:37964720G>C	ENST00000249014.4	+	3	1489	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	357					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCTGGACGAAGAGTGGAGGGC	0.647																																						uc003asz.3		NA																	0					0						c.(1069-1071)GAG>CAG		CDC42 effector protein 1							18.0	24.0	22.0					22																	37964720		2202	4299	6501	SO:0001583	missense	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37964720G>C	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.1069G>C	22.37:g.37964720G>C	ENSP00000249014:p.Glu357Gln						p.E357Q	NM_152243	NP_689449	Q00587	BORG5_HUMAN			3	1472	+	Melanoma(58;0.0574)		357					A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	c.1069G>C	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330261	0.41297	.	.	ENSG00000128283	ENST00000249014	T	0.35236	1.32	4.81	3.76	0.43208	.	0.654032	0.14245	N	0.331834	T	0.27313	0.0670	L	0.27053	0.805	0.19300	N	0.999978	B	0.17852	0.024	B	0.18561	0.022	T	0.15925	-1.0420	10	0.33141	T	0.24	-13.2853	12.9114	0.58182	0.0:0.3127:0.6873:0.0	.	357	Q00587	BORG5_HUMAN	Q	357	ENSP00000249014:E357Q	ENSP00000249014:E357Q	E	+	1	0	CDC42EP1	36294666	0.999000	0.42202	0.857000	0.33713	0.193000	0.23685	1.345000	0.33953	1.108000	0.41662	0.561000	0.74099	GAG		0.647	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		4	3	0	0	0	0	4	3				
DNAJB7	150353	broad.mit.edu	37	22	41257532	41257532	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:41257532C>T	ENST00000307221.4	-	1	598	c.467G>A	c.(466-468)gGa>gAa	p.G156E	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000482652.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	156							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TGATGTATATCCTGTATCATA	0.398																																						uc003azj.2		NA																	0				ovary(1)	1						c.(466-468)GGA>GAA		DnaJ (Hsp40) homolog, subfamily B, member 7							86.0	89.0	88.0					22																	41257532		2203	4300	6503	SO:0001583	missense	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257532C>T	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.467G>A	22.37:g.41257532C>T	ENSP00000307197:p.Gly156Glu					XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_Intron|XPNPEP3_uc003azf.1_Intron|XPNPEP3_uc010gyh.1_5'Flank	p.G156E	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN			1	599	-			156					Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	ENST00000307221.4	37	c.467G>A	CCDS14008.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264605	0.23136	.	.	ENSG00000172404	ENST00000307221	T	0.74842	-0.88	4.7	2.63	0.31362	.	2.629380	0.01624	N	0.023205	T	0.79393	0.4438	M	0.86651	2.83	0.21064	N	0.999793	B	0.24533	0.105	B	0.24006	0.05	T	0.56786	-0.7921	10	0.33141	T	0.24	.	9.5217	0.39140	0.0:0.8261:0.0:0.1739	.	156	Q7Z6W7	DNJB7_HUMAN	E	156	ENSP00000307197:G156E	ENSP00000307197:G156E	G	-	2	0	DNAJB7	39587478	0.000000	0.05858	0.011000	0.14972	0.029000	0.11900	0.110000	0.15437	0.918000	0.36919	0.591000	0.81541	GGA		0.398	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		13	166	0	0	0	0	13	166				
PLXNB2	23654	broad.mit.edu	37	22	50720062	50720062	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr22:50720062G>A	ENST00000449103.1	-	21	3595	c.3455C>T	c.(3454-3456)cCg>cTg	p.P1152L	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1152L			O15031	PLXB2_HUMAN	plexin B2	1152					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCACCTCCGGGGGCTCACA	0.677																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3454-3456)CCG>CTG		plexin B2 precursor							25.0	32.0	30.0					22																	50720062		2119	4206	6325	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50720062G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3455C>T	22.37:g.50720062G>A	ENSP00000409171:p.Pro1152Leu					PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Missense_Mutation_p.P137L	p.P1152L	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	21	3561	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1152			Extracellular (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.3455C>T	CCDS43035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.285178|4.285178	0.80803|0.80803	.|.	.|.	ENSG00000196576|ENSG00000196576	ENST00000449103;ENST00000359337|ENST00000427829	T;T|.	0.09255|.	3.0;3.0|.	4.85|4.85	3.82|3.82	0.43975|0.43975	Immunoglobulin-like fold (1);|.	0.116612|.	0.38897|.	N|.	0.001537|.	T|T	0.76478|0.76478	0.3993|0.3993	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72075|.	0.976|.	T|T	0.78663|0.78663	-0.2116|-0.2116	10|5	0.72032|.	D|.	0.01|.	.|.	14.3814|14.3814	0.66914|0.66914	0.0:0.0:0.8508:0.1492|0.0:0.0:0.8508:0.1492	.|.	1152|.	O15031|.	PLXB2_HUMAN|.	L|W	1152|170	ENSP00000409171:P1152L;ENSP00000352288:P1152L|.	ENSP00000352288:P1152L|.	P|R	-|-	2|1	0|2	PLXNB2|PLXNB2	49062189|49062189	1.000000|1.000000	0.71417|0.71417	0.923000|0.923000	0.36655|0.36655	0.974000|0.974000	0.67602|0.67602	7.490000|7.490000	0.81461|0.81461	1.014000|1.014000	0.39417|0.39417	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.677	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		3	38	0	0	0	0	3	38				
NR2C2	7182	broad.mit.edu	37	3	15079580	15079580	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:15079580G>A	ENST00000425241.1	+	12	1808	c.1446G>A	c.(1444-1446)atG>atA	p.M482I	NR2C2_ENST00000323373.6_Missense_Mutation_p.M501I|NR2C2_ENST00000393102.3_Missense_Mutation_p.M482I|NR2C2_ENST00000406272.2_Missense_Mutation_p.M482I|NR2C2_ENST00000478572.1_3'UTR			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	482	Ligand-binding. {ECO:0000250}.				cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTAACAGCATGGCGAAGCTGG	0.463																																						uc003bzj.3		NA																	0					0						c.(1444-1446)ATG>ATA		nuclear receptor subfamily 2, group C, member 2							175.0	160.0	165.0					3																	15079580		2203	4300	6503	SO:0001583	missense	7182				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:15079580G>A	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.1446G>A	3.37:g.15079580G>A	ENSP00000388387:p.Met482Ile					NR2C2_uc003bzi.2_Missense_Mutation_p.M501I	p.M482I	NM_003298	NP_003289	P49116	NR2C2_HUMAN			12	1663	+			482			Ligand-binding (By similarity).		A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	ENST00000425241.1	37	c.1446G>A		.	.	.	.	.	.	.	.	.	.	G	13.12	2.143700	0.37825	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272;ENST00000439011;ENST00000413194	D;D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19;-4.19	5.67	4.78	0.61160	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.183916	0.64402	N	0.000002	D	0.96312	0.8797	M	0.78916	2.43	0.58432	D	0.999999	B;B	0.24533	0.105;0.005	B;B	0.33521	0.165;0.01	D	0.94863	0.8023	10	0.51188	T	0.08	.	16.6504	0.85187	0.0:0.1299:0.8701:0.0	.	482;501	P49116;F2YGU2	NR2C2_HUMAN;.	I	482;501;482;482;96;77	ENSP00000388387:M482I;ENSP00000320447:M501I;ENSP00000376814:M482I;ENSP00000384463:M482I;ENSP00000412473:M96I;ENSP00000413438:M77I	ENSP00000320447:M501I	M	+	3	0	NR2C2	15054584	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	9.863000	0.99569	1.373000	0.46208	-0.305000	0.09177	ATG		0.463	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298		5	101	0	0	0	0	5	101				
MORC1	27136	broad.mit.edu	37	3	108688549	108688549	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:108688549C>G	ENST00000483760.1	-	25	2551	c.2508G>C	c.(2506-2508)caG>caC	p.Q836H	MORC1_ENST00000232603.5_Missense_Mutation_p.Q857H					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTTGTTCATCTGCTCTGGGC	0.363																																						uc003dxl.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(2569-2571)CAG>CAC		MORC family CW-type zinc finger 1							123.0	112.0	116.0					3																	108688549		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108688549C>G	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2508G>C	3.37:g.108688549C>G	ENSP00000417282:p.Gln836His					MORC1_uc011bhn.1_Missense_Mutation_p.Q836H	p.Q857H	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			26	2658	-			857						Missense_Mutation	SNP	ENST00000483760.1	37	c.2571G>C		.	.	.	.	.	.	.	.	.	.	C	0.988	-0.694836	0.03303	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06687	3.28;3.27	5.12	0.938	0.19500	.	1.986740	0.02112	N	0.054905	T	0.08403	0.0209	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.39542	-0.9609	10	0.48119	T	0.1	1.8189	9.0043	0.36102	0.2662:0.4912:0.2426:0.0	.	836;857	E7ERX1;Q86VD1	.;MORC1_HUMAN	H	857;836	ENSP00000232603:Q857H;ENSP00000417282:Q836H	ENSP00000232603:Q857H	Q	-	3	2	MORC1	110171239	0.102000	0.21896	0.065000	0.19835	0.099000	0.18886	-0.053000	0.11846	-0.143000	0.11334	-0.824000	0.03097	CAG		0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			5	101	0	0	0	0	5	101				
HCLS1	3059	broad.mit.edu	37	3	121363742	121363742	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:121363742C>G	ENST00000314583.3	-	5	413	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	HCLS1_ENST00000428394.2_Missense_Mutation_p.E108Q|HCLS1_ENST00000473883.1_5'Flank	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	108					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GAGTGCTTCTCCACCTCGGCA	0.463																																						uc003eeh.3		NA																	0					0						c.(322-324)GAG>CAG		hematopoietic cell-specific Lyn substrate 1							149.0	126.0	134.0					3																	121363742		2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121363742C>G		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.322G>C	3.37:g.121363742C>G	ENSP00000320176:p.Glu108Gln					HCLS1_uc011bjj.1_Missense_Mutation_p.E108Q|HCLS1_uc011bjk.1_RNA|HCLS1_uc011bjl.1_Missense_Mutation_p.E108Q	p.E108Q	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	5	447	-			108			Cortactin 1.		B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.322G>C	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202376	0.79127	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.21361	2.01;2.01	4.96	4.07	0.47477	.	0.190122	0.56097	N	0.000036	T	0.23532	0.0569	L	0.52011	1.625	0.47374	D	0.999409	B;B;B	0.30361	0.242;0.125;0.277	B;B;B	0.36418	0.213;0.062;0.224	T	0.03555	-1.1025	10	0.35671	T	0.21	-15.7278	12.9951	0.58642	0.0:0.8366:0.1634:0.0	.	108;108;108	B4DTP2;E7EVW7;P14317	.;.;HCLS1_HUMAN	Q	108	ENSP00000320176:E108Q;ENSP00000387645:E108Q	ENSP00000320176:E108Q	E	-	1	0	HCLS1	122846432	0.995000	0.38212	1.000000	0.80357	0.991000	0.79684	3.320000	0.51991	1.279000	0.44446	0.650000	0.86243	GAG		0.463	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		20	129	0	0	0	0	20	129				
PLOD2	5352	broad.mit.edu	37	3	145788905	145788905	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:145788905C>T	ENST00000360060.3	-	18	2159	c.1982G>A	c.(1981-1983)cGt>cAt	p.R661H	RP11-274H2.2_ENST00000494745.2_RNA|RP11-274H2.3_ENST00000490375.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.R342H|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.R627H|PLOD2_ENST00000282903.5_Missense_Mutation_p.R682H	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	661	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ACGAAGAGAACGCTGTCGTTC	0.348																																						uc003evs.1		NA																	0				ovary(1)|skin(1)	2						c.(1981-1983)CGT>CAT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						82.0	85.0	84.0					3																	145788905		2203	4300	6503	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145788905C>T	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1982G>A	3.37:g.145788905C>T	ENSP00000353170:p.Arg661His					PLOD2_uc003evq.1_Missense_Mutation_p.R342H|PLOD2_uc011bnm.1_Missense_Mutation_p.R627H|PLOD2_uc003evr.1_Missense_Mutation_p.R682H	p.R661H	NM_000935	NP_000926	O00469	PLOD2_HUMAN			18	2488	-			661			Fe2OG dioxygenase.		B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.1982G>A	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304484	0.81136	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	4.9	4.9	0.64082	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.123726	0.52532	D	0.000062	T	0.72732	0.3497	N	0.16656	0.425	0.44807	D	0.997812	D;D;D;D	0.65815	0.994;0.995;0.994;0.99	P;P;P;P	0.59595	0.75;0.86;0.781;0.803	T	0.75969	-0.3130	10	0.52906	T	0.07	-6.9424	13.7654	0.62992	0.0:0.8459:0.1541:0.0	.	627;661;682;342	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	H	342;682;661;627	ENSP00000419354:R342H;ENSP00000282903:R682H;ENSP00000353170:R661H;ENSP00000420094:R627H	ENSP00000282903:R682H	R	-	2	0	PLOD2	147271595	1.000000	0.71417	0.992000	0.48379	0.868000	0.49771	4.337000	0.59310	2.284000	0.76573	0.585000	0.79938	CGT		0.348	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		6	34	0	0	0	0	6	34				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	50	0	0	0	0	4	50				
SLC4A4	8671	broad.mit.edu	37	4	72425867	72425867	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr4:72425867C>A	ENST00000264485.5	+	23	3112	c.2995C>A	c.(2995-2997)Ctc>Atc	p.L999I	SLC4A4_ENST00000425175.1_Missense_Mutation_p.L999I|SLC4A4_ENST00000351898.6_Missense_Mutation_p.L915I|SLC4A4_ENST00000340595.3_Missense_Mutation_p.L955I	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	999					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CCAGCACGACCTCAGCTTCCT	0.413																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(2995-2997)CTC>ATC		solute carrier family 4, sodium bicarbonate							119.0	111.0	114.0					4																	72425867		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72425867C>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2995C>A	4.37:g.72425867C>A	ENSP00000264485:p.Leu999Ile					SLC4A4_uc010iic.2_Missense_Mutation_p.L999I|SLC4A4_uc010iib.2_Missense_Mutation_p.L915I|SLC4A4_uc003hfz.2_Missense_Mutation_p.L999I|SLC4A4_uc003hgc.3_Missense_Mutation_p.L955I|SLC4A4_uc010iid.2_Missense_Mutation_p.L203I	p.L999I	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		23	3112	+			999			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.2995C>A	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520706	0.85495	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.89047	0.6604	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.89917	1.0;0.97;1.0;1.0	D;P;D;D	0.91635	0.998;0.837;0.999;0.991	D	0.90440	0.4431	10	0.66056	D	0.02	.	12.7601	0.57359	0.0:0.9147:0.0:0.0852	.	999;915;955;999	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	I	999;999;915;955	ENSP00000264485:L999I;ENSP00000393557:L999I;ENSP00000307349:L915I;ENSP00000344272:L955I	ENSP00000264485:L999I	L	+	1	0	SLC4A4	72644731	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.988000	0.63863	2.477000	0.83638	0.591000	0.81541	CTC		0.413	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		24	109	1	0	3.99e-17	4.58e-17	24	109				
ERAP2	64167	broad.mit.edu	37	5	96222495	96222495	+	Splice_Site	SNP	T	T	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr5:96222495T>A	ENST00000437043.3	+	4	1560		c.e4+2		ERAP2_ENST00000510309.1_Splice_Site|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2						antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGGGTCAAGGTGAGACTGAGT	0.378																																						uc003kmq.2		NA																	0					0						c.e4+2		endoplasmic reticulum aminopeptidase 2							119.0	116.0	117.0					5																	96222495		2203	4300	6503	SO:0001630	splice_region_variant	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96222495T>A	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.849+2T>A	5.37:g.96222495T>A						uc003kmo.1_Intron|ERAP2_uc003kmt.2_Splice_Site_p.K283_splice|ERAP2_uc003kmr.2_Splice_Site|ERAP2_uc003kms.2_Intron|ERAP2_uc003kmu.2_Splice_Site	p.K283_splice	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	4	1559	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)						Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Splice_Site	SNP	ENST00000437043.3	37	c.849_splice	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.455293	0.63401	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000510309	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.527	0.50586	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERAP2	96248251	1.000000	0.71417	0.998000	0.56505	0.709000	0.40893	6.475000	0.73582	2.049000	0.60858	0.450000	0.29827	.		0.378	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350	Intron	12	77	0	0	0	0	12	77				
PCDHB13	56123	broad.mit.edu	37	5	140595010	140595010	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr5:140595010G>A	ENST00000341948.4	+	1	1502	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	439	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATATGACCGTGCTGATCGC	0.547																																						uc003lja.1		NA																	0				skin(2)|ovary(1)	3						c.(1315-1317)GTG>ATG		protocadherin beta 13 precursor							146.0	129.0	135.0					5																	140595010		2203	4300	6503	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595010G>A	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1315G>A	5.37:g.140595010G>A	ENSP00000345491:p.Val439Met						p.V439M	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1502	+			439			Cadherin 4.|Extracellular (Potential).		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1315G>A	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	13.67	2.307819	0.40795	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.72725	-0.68	3.5	3.5	0.40072	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.88171	0.6365	H	0.98388	4.22	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.78006	-0.2373	9	0.66056	D	0.02	.	5.6794	0.17767	0.1069:0.0:0.6981:0.195	.	439	Q9Y5F0	PCDBD_HUMAN	M	439	ENSP00000345491:V439M	ENSP00000345491:V439M	V	+	1	0	PCDHB13	140575194	0.000000	0.05858	0.036000	0.18154	0.105000	0.19272	-0.216000	0.09266	1.671000	0.50874	0.298000	0.19748	GTG		0.547	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		18	102	0	0	0	0	18	102				
PAPOLB	56903	broad.mit.edu	37	7	4899722	4899722	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr7:4899722C>G	ENST00000404991.1	-	1	1903	c.1717G>C	c.(1717-1719)Gaa>Caa	p.E573Q	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	573					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAGGAAAATTCAGTAGCCTGT	0.458																																						uc003snk.2		NA																	0				ovary(1)	1						c.(1720-1722)GAA>CAA		poly(A) polymerase beta (testis specific)							82.0	83.0	83.0					7																	4899722		2004	4217	6221	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4899722C>G	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1717G>C	7.37:g.4899722C>G	ENSP00000384700:p.Glu573Gln					RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	p.E574Q	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1904	-		Ovarian(82;0.0175)	573					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.1720G>C		.	.	.	.	.	.	.	.	.	.	C	9.556	1.117291	0.20795	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	T	0.32763	0.0840	L	0.29908	0.895	0.09310	N	1	B	0.27823	0.19	B	0.30943	0.122	T	0.10337	-1.0634	8	0.22706	T	0.39	.	12.9547	0.58421	0.0:1.0:0.0:0.0	.	574	A4D1Z6	.	Q	573	.	ENSP00000384700:E573Q	E	-	1	0	PAPOLB	4866248	1.000000	0.71417	0.066000	0.19879	0.749000	0.42624	2.956000	0.49129	2.777000	0.95525	0.591000	0.81541	GAA		0.458	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		5	53	0	0	0	0	5	53				
PRKRIP1	79706	broad.mit.edu	37	7	102040012	102040012	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr7:102040012G>A	ENST00000496391.1	+	7	1533	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	PRKRIP1_ENST00000397912.3_Missense_Mutation_p.G75S|PRKRIP1_ENST00000462601.1_Missense_Mutation_p.G18S|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.G37S|PRKRIP1_ENST00000482465.1_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	75	Required for RNA-binding. {ECO:0000250}.				negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						TGCTGGGGCCGGCAGTGGAGA	0.512																																						uc003uzh.2		NA																	0				ovary(1)	1						c.(223-225)GGC>AGC		PRKR interacting protein 1 (IL11 inducible)							108.0	108.0	108.0					7																	102040012		2203	4300	6503	SO:0001583	missense	79706					nucleolus		g.chr7:102040012G>A	AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"""Zinc fingers, C2H2-type"", ""-"""	21894	protein-coding gene	gene with protein product	"""likely ortholog of mouse C114 dsRNA-binding protein"", ""KRAB box domain containing 3"""					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.223G>A	7.37:g.102040012G>A	ENSP00000419270:p.Gly75Ser					PRKRIP1_uc003uzf.2_Missense_Mutation_p.G24S|PRKRIP1_uc003uzg.2_Missense_Mutation_p.G24S|PRKRIP1_uc011kkq.1_Missense_Mutation_p.G18S|PRKRIP1_uc011kkr.1_Missense_Mutation_p.G75S	p.G75S	NM_024653	NP_078929	Q9H875	PKRI1_HUMAN			3	278	+			75			Required for RNA-binding (By similarity).		B4DGM2|Q8NDM6|Q96CF8	Missense_Mutation	SNP	ENST00000496391.1	37	c.223G>A	CCDS34714.1	.	.	.	.	.	.	.	.	.	.	g	34	5.348030	0.95807	.	.	ENSG00000128563	ENST00000496391;ENST00000462601;ENST00000397912;ENST00000354783	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	T	0.78910	0.4358	M	0.68728	2.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.97110	1.0;1.0;0.947	T	0.78553	-0.2160	10	0.66056	D	0.02	-0.2782	18.3386	0.90297	0.0:0.0:1.0:0.0	.	37;18;75	B4DGM2;E9PC43;Q9H875	.;.;PKRI1_HUMAN	S	75;18;75;37	ENSP00000419270:G75S;ENSP00000420136:G18S;ENSP00000381010:G75S;ENSP00000346837:G37S	ENSP00000346837:G37S	G	+	1	0	PRKRIP1	101827017	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	8.163000	0.89659	2.933000	0.99390	0.645000	0.84053	GGC		0.512	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349489.1	NM_024653		19	115	0	0	0	0	19	115				
CALD1	800	broad.mit.edu	37	7	134644737	134644737	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr7:134644737G>A	ENST00000361675.2	+	12	2303	c.2074G>A	c.(2074-2076)Gca>Aca	p.A692T	CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000417172.1_Missense_Mutation_p.A437T|CALD1_ENST00000422748.1_Missense_Mutation_p.A462T|CALD1_ENST00000543443.1_Missense_Mutation_p.A442T|CALD1_ENST00000361901.2_Missense_Mutation_p.A437T|CALD1_ENST00000495522.1_Missense_Mutation_p.A456T|CALD1_ENST00000424922.1_Missense_Mutation_p.A431T|CALD1_ENST00000393118.2_Missense_Mutation_p.A457T|CALD1_ENST00000361388.2_Missense_Mutation_p.A463T			Q05682	CALD1_HUMAN	caldesmon 1	692					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AACAAAAAGCGCAAAACCTAC	0.418																																						uc003vrz.2		NA																	0					0						c.(2074-2076)GCA>ACA		caldesmon 1 isoform 1							77.0	73.0	74.0					7																	134644737		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134644737G>A	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.2074G>A	7.37:g.134644737G>A	ENSP00000354826:p.Ala692Thr					CALD1_uc003vry.2_Missense_Mutation_p.A437T|CALD1_uc003vsa.2_Missense_Mutation_p.A463T|CALD1_uc003vsb.2_Missense_Mutation_p.A437T|CALD1_uc010lmm.2_Missense_Mutation_p.A462T|CALD1_uc011kpt.1_Missense_Mutation_p.A211T|CALD1_uc003vsc.2_Missense_Mutation_p.A457T|CALD1_uc003vsd.2_Missense_Mutation_p.A431T|CALD1_uc011kpu.1_Missense_Mutation_p.A442T|CALD1_uc011kpv.1_Missense_Mutation_p.A301T|CALD1_uc003vse.2_Missense_Mutation_p.A555T|CALD1_uc010lmn.2_RNA	p.A692T	NM_033138	NP_149129	Q05682	CALD1_HUMAN			12	2533	+			692					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.2074G>A	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	5.067	0.198029	0.09652	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000432646;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.74	-3.01	0.05463	.	0.822214	0.10334	N	0.687130	T	0.23014	0.0556	N	0.16307	0.4	0.09310	N	1	P;P;P;P;P;P;P;P;P;P	0.45396	0.726;0.68;0.726;0.726;0.68;0.68;0.827;0.68;0.857;0.732	B;B;B;B;B;B;B;B;B;B	0.36378	0.113;0.099;0.159;0.159;0.099;0.099;0.142;0.099;0.223;0.22	T	0.25328	-1.0135	10	0.17832	T	0.49	-2.4606	9.4076	0.38471	0.1518:0.0:0.3649:0.4834	.	386;442;462;456;431;457;437;463;692;437	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	T	437;437;463;462;70;692;437;457;431;456;442	ENSP00000398826:A437T;ENSP00000411476:A437T;ENSP00000355000:A463T;ENSP00000395710:A462T;ENSP00000354826:A692T;ENSP00000354513:A437T;ENSP00000376826:A457T;ENSP00000393621:A431T;ENSP00000419673:A456T;ENSP00000445641:A442T	ENSP00000355000:A463T	A	+	1	0	CALD1	134295277	0.009000	0.17119	0.002000	0.10522	0.022000	0.10575	-0.579000	0.05834	-0.453000	0.07076	-0.808000	0.03180	GCA		0.418	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		3	40	0	0	0	0	3	40				
IKBKB	3551	broad.mit.edu	37	8	42147786	42147786	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr8:42147786C>G	ENST00000520810.1	+	4	499	c.313C>G	c.(313-315)Cgg>Ggg	p.R105G	IKBKB_ENST00000519735.1_Missense_Mutation_p.R105G|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.R103G|IKBKB_ENST00000416505.2_Missense_Mutation_p.R46G	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AGGAGATCTCCGGAAGGTGAG	0.612																																						uc003xow.1		NA																	0				breast(3)|ovary(2)|lung(1)|skin(1)	7						c.(313-315)CGG>GGG		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						40.0	34.0	36.0					8																	42147786		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42147786C>G	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.313C>G	8.37:g.42147786C>G	ENSP00000430684:p.Arg105Gly					IKBKB_uc003xov.2_Missense_Mutation_p.R105G|IKBKB_uc010lxh.1_Intron|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Intron|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.R103G|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.R46G	p.R105G	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		4	490	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	105			Protein kinase.		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.313C>G	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359302	0.82353	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000519735;ENST00000520835	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.93	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74543	0.3730	L	0.58510	1.815	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.998;0.999	T	0.71048	-0.4705	10	0.33940	T	0.23	-17.9045	14.9383	0.70975	0.2545:0.7455:0.0:0.0	.	46;103;105;105	B4E0U4;O14920-2;O14920;Q32ND9	.;.;IKKB_HUMAN;.	G	105;46;105;103	ENSP00000430684:R105G;ENSP00000404920:R46G;ENSP00000430483:R105G;ENSP00000430868:R103G	ENSP00000339151:R105G	R	+	1	2	IKBKB	42266943	1.000000	0.71417	0.985000	0.45067	0.928000	0.56348	4.720000	0.61944	2.802000	0.96397	0.561000	0.74099	CGG		0.612	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			4	13	0	0	0	0	4	13				
CDKN2A	1029	broad.mit.edu	37	9	21971110	21971110	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chr9:21971110T>C	ENST00000304494.5	-	2	518	c.248A>G	c.(247-249)cAc>cGc	p.H83R	CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83R|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32R|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83R|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32R|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32R|CDKN2A_ENST00000361570.3_Silent_p.A138A|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32R|CDKN2A_ENST00000579755.1_Silent_p.A97A|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83R|CDKN2A_ENST00000530628.2_Silent_p.A97A|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.H83P(2)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)|p.H83R(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCAGCGTCGTGCACGGGTCG	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1374	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(6)|Deletion - In frame(3)|Substitution - Missense(3)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	p.0?(1112)|p.H83Y(27)|p.?(13)|p.H83fs*2(2)|p.H83P(2)|p.H83N(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.H83Q(1)|p.H83R(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(149)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(53)|pleura(51)|upper_aerodigestive_tract(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(247-249)CAC>CGC		cyclin-dependent kinase inhibitor 2A isoform 1							12.0	15.0	14.0					9																	21971110		2177	4259	6436	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971110T>C	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.248A>G	9.37:g.21971110T>C	ENSP00000307101:p.His83Arg	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.A138A	p.H83R	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	460	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	83		H -> N (in a lung tumor).|H -> Y (in a pancreas and a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.248A>G	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.957639	0.92726	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.71341	-0.56;-0.56	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.84410	0.5466	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	D	0.86279	0.1666	8	0.66056	D	0.02	-15.192	15.3535	0.74409	0.0:0.0:0.0:1.0	.	83	P42771	CD2A1_HUMAN	R	83	ENSP00000307101:H83R;ENSP00000394932:H83R	ENSP00000307101:H83R	H	-	2	0	CDKN2A	21961110	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.072000	0.76777	2.261000	0.74972	0.528000	0.53228	CAC		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		8	14	0	0	0	0	8	14				
CLCN4	1183	broad.mit.edu	37	X	10201608	10201608	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:10201608C>A	ENST00000380833.4	+	13	2658	c.2267C>A	c.(2266-2268)tCc>tAc	p.S756Y	CLCN4_ENST00000421085.2_Missense_Mutation_p.S662Y|CLCN4_ENST00000380829.1_Missense_Mutation_p.S725Y	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	756					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GACCCCGAATCCATCATGTTT	0.358																																					Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.3		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(2266-2268)TCC>TAC		chloride channel 4							100.0	95.0	96.0					X																	10201608		2203	4300	6503	SO:0001583	missense	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10201608C>A	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.2267C>A	X.37:g.10201608C>A	ENSP00000370213:p.Ser756Tyr					CLCN4_uc011mid.1_Missense_Mutation_p.S662Y	p.S756Y	NM_001830	NP_001821	P51793	CLCN4_HUMAN			13	2697	+			756			Cytoplasmic (By similarity).		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.2267C>A	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116866	0.94385	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.92249	-2.6;-3.0;-2.54	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.94699	0.8290	M	0.74881	2.28	0.80722	D	1	D	0.52996	0.957	P	0.53549	0.729	D	0.95094	0.8224	10	0.87932	D	0	-44.7549	18.6246	0.91333	0.0:1.0:0.0:0.0	.	756	P51793	CLCN4_HUMAN	Y	756;725;662	ENSP00000370213:S756Y;ENSP00000370209:S725Y;ENSP00000405754:S662Y	ENSP00000370209:S725Y	S	+	2	0	CLCN4	10161608	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.559000	0.82265	2.442000	0.82660	0.600000	0.82982	TCC		0.358	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			6	86	1	0	0.00198382	0.00206261	6	86				
HUWE1	10075	broad.mit.edu	37	X	53570870	53570870	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:53570870C>T	ENST00000342160.3	-	72	11768	c.11311G>A	c.(11311-11313)Gag>Aag	p.E3771K	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.E3771K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3771					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCATCAGCCTCAGCCTCCAGC	0.517																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(11311-11313)GAG>AAG		HECT, UBA and WWE domain containing 1							63.0	39.0	47.0					X																	53570870		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53570870C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11311G>A	X.37:g.53570870C>T	ENSP00000340648:p.Glu3771Lys					HUWE1_uc004dsn.2_Missense_Mutation_p.E2579K|HUWE1_uc004dsq.1_Missense_Mutation_p.E86K	p.E3771K	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			73	11713	-			3771					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.11311G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	c	13.72	2.322571	0.41096	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.41400	1.0;1.0	5.08	4.21	0.49690	.	0.222766	0.36893	N	0.002349	T	0.56352	0.1979	L	0.53249	1.67	0.58432	D	0.999998	P;P;D	0.56035	0.791;0.956;0.974	B;P;D	0.67725	0.262;0.899;0.953	T	0.52419	-0.8578	10	0.35671	T	0.21	.	13.2232	0.59901	0.1603:0.8397:0.0:0.0	.	608;3771;3755	Q5H935;Q7Z6Z7;Q7Z6Z7-2	.;HUWE1_HUMAN;.	K	3771	ENSP00000340648:E3771K;ENSP00000262854:E3771K	ENSP00000262854:E3771K	E	-	1	0	HUWE1	53587595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.939000	0.75911	0.937000	0.37394	0.534000	0.68092	GAG		0.517	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	19	0	0	0	0	4	19				
WNK3	65267	broad.mit.edu	37	X	54335724	54335724	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:54335724C>T	ENST00000375159.2	-	3	734	c.735G>A	c.(733-735)atG>atA	p.M245I	WNK3_ENST00000375169.3_Missense_Mutation_p.M245I|WNK3_ENST00000354646.2_Missense_Mutation_p.M245I			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CCTTTGGTTTCATGACTTTAA	0.368																																						uc004dtd.1		NA																	0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(733-735)ATG>ATA		WNK lysine deficient protein kinase 3 isoform 2							58.0	49.0	52.0					X																	54335724		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54335724C>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.735G>A	X.37:g.54335724C>T	ENSP00000364301:p.Met245Ile					WNK3_uc004dtc.1_Missense_Mutation_p.M245I	p.M245I	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			4	1174	-			245			Protein kinase.		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.735G>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794553	0.90453	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.63417	-0.04;-0.04;-0.04	4.93	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000008	T	0.60521	0.2275	N	0.05592	-0.015	0.48236	D	0.999619	P;P	0.39003	0.602;0.654	P;P	0.58013	0.651;0.831	T	0.62067	-0.6932	10	0.27082	T	0.32	-9.6724	16.24	0.82402	0.0:1.0:0.0:0.0	.	245;245	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	I	245	ENSP00000364312:M245I;ENSP00000346667:M245I;ENSP00000364301:M245I	ENSP00000346667:M245I	M	-	3	0	WNK3	54352449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.688000	0.84153	2.175000	0.68902	0.422000	0.28245	ATG		0.368	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		5	48	0	0	0	0	5	48				
HEPH	9843	broad.mit.edu	37	X	65411985	65411985	+	Silent	SNP	A	A	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:65411985A>C	ENST00000343002.2	+	6	1741	c.1077A>C	c.(1075-1077)gcA>gcC	p.A359A	HEPH_ENST00000441993.2_Silent_p.A362A|HEPH_ENST00000519389.1_Silent_p.A413A|HEPH_ENST00000374727.3_Silent_p.A362A|HEPH_ENST00000419594.1_Silent_p.A362A|HEPH_ENST00000336279.5_Silent_p.A92A			Q9BQS7	HEPH_HUMAN	hephaestin	359	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCATGCAGGCACTCTACAAGG	0.488																																						uc011moz.1		NA																	0				lung(5)|ovary(4)	9						c.(1084-1086)GCA>GCC		hephaestin isoform a							119.0	93.0	102.0					X																	65411985		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65411985A>C	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1077A>C	X.37:g.65411985A>C						HEPH_uc004dwn.2_Silent_p.A362A|HEPH_uc004dwo.2_Silent_p.A92A|HEPH_uc010nkr.2_Silent_p.A362A|HEPH_uc011mpa.1_Silent_p.A362A	p.A362A	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			7	1146	+			359			Extracellular (Potential).|Plastocyanin-like 2.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.1086A>C																																																																																					0.488	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		13	52	0	0	0	0	13	52				
BHLHB9	80823	broad.mit.edu	37	X	102004645	102004645	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:102004645C>A	ENST00000372735.1	+	4	1307	c.722C>A	c.(721-723)gCa>gAa	p.A241E	BHLHB9_ENST00000457056.1_Missense_Mutation_p.A241E|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A241E|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A241E|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A241E			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	241					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCATCTGAGGCAAGCCCTCCT	0.517																																						uc010nog.2		NA																	0				ovary(2)	2						c.(721-723)GCA>GAA		basic helix-loop-helix domain containing, class							74.0	69.0	70.0					X																	102004645		2203	4299	6502	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102004645C>A	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.722C>A	X.37:g.102004645C>A	ENSP00000361820:p.Ala241Glu					BHLHB9_uc011mrq.1_Missense_Mutation_p.A241E|BHLHB9_uc011mrr.1_Missense_Mutation_p.A241E|BHLHB9_uc011mrs.1_Missense_Mutation_p.A241E|BHLHB9_uc011mrt.1_Missense_Mutation_p.A241E|BHLHB9_uc004ejo.2_Missense_Mutation_p.A241E|BHLHB9_uc011mru.1_Missense_Mutation_p.A241E|BHLHB9_uc011mrv.1_Missense_Mutation_p.A241E	p.A241E	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN			4	1293	+			241					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.722C>A	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	C	3.332	-0.136401	0.06711	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64	4.5	1.68	0.24146	.	1.489000	0.04128	N	0.317486	T	0.06826	0.0174	N	0.08118	0	0.09310	N	1	B	0.19331	0.035	B	0.17433	0.018	T	0.35226	-0.9797	9	.	.	.	-18.1103	2.48	0.04585	0.2046:0.5147:0.1744:0.1064	.	241	Q6PI77	BHLH9_HUMAN	E	241	ENSP00000403226:A241E;ENSP00000354675:A241E;ENSP00000405893:A241E;ENSP00000391722:A241E;ENSP00000361820:A241E	.	A	+	2	0	BHLHB9	101891301	0.048000	0.20356	0.007000	0.13788	0.330000	0.28571	0.157000	0.16402	0.211000	0.20683	0.597000	0.82753	GCA		0.517	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		16	151	1	0	6.32e-08	7.04e-08	16	151				
SEPT6	23157	broad.mit.edu	37	X	118797579	118797579	+	Silent	SNP	C	C	T			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:118797579C>T	ENST00000343984.5	-	3	471	c.207G>A	c.(205-207)ggG>ggA	p.G69G	SEPT6_ENST00000489216.1_Silent_p.G69G|SEPT6_ENST00000360156.7_Silent_p.G69G|SEPT6_ENST00000354416.3_Silent_p.G69G|SEPT6_ENST00000394616.4_Silent_p.G11G|SEPT6_ENST00000394610.1_Silent_p.G69G|SEPT6_ENST00000354228.4_Silent_p.G69G|SEPT6_ENST00000394617.2_Silent_p.G99G	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	69	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TGGCTGGCTCCCCTTCGAATT	0.507			T	MLL	AML																																	uc004erv.2		NA		Dom	yes		X	Xq24	23157		septin 6			L					0				lung(1)|ovary(1)|prostate(1)|kidney(1)	4						c.(205-207)GGG>GGA		septin 6 isoform B							223.0	212.0	215.0					X																	118797579		2203	4300	6503	SO:0001819	synonymous_variant	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118797579C>T	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.207G>A	X.37:g.118797579C>T						SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Silent_p.G69G|SEPT6_uc004ert.2_Silent_p.G69G|SEPT6_uc004eru.2_Silent_p.G69G|SEPT6_uc004erw.2_Silent_p.G11G|SEPT6_uc011mtv.1_Silent_p.G11G|SEPT6_uc011mtw.1_Silent_p.G99G	p.G69G	NM_015129	NP_055944	Q14141	SEPT6_HUMAN			3	472	-			69					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	ENST00000343984.5	37	c.207G>A	CCDS14584.1																																																																																				0.507	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		73	289	0	0	0	0	73	289				
VBP1	7411	broad.mit.edu	37	X	154467052	154467052	+	Splice_Site	SNP	G	G	C			TCGA-BA-5557-01A-01D-1512-08	TCGA-BA-5557-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7caa2a2f-3b77-46f0-9886-37f6e4278d83	47dd8b1c-117a-4793-8956-859d61284da8	g.chrX:154467052G>C	ENST00000286428.5	+	6	640		c.e6-1		VBP1_ENST00000459836.1_Splice_Site|VBP1_ENST00000535916.1_Splice_Site	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)				NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATTCTTGCAGATATGGCCAG	0.338																																						uc004fnc.2		NA																	0					0						c.e6-1		von Hippel-Lindau binding protein 1							150.0	148.0	148.0					X																	154467052		2203	4298	6501	SO:0001630	splice_region_variant	7411				'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding	g.chrX:154467052G>C	U56833	CCDS14765.1	Xq28	2008-07-07			ENSG00000155959	ENSG00000155959			12662	protein-coding gene	gene with protein product	"""prefoldin 3"""	300133				8674032, 9339366	Standard	NM_003372		Approved	PFD3, PFDN3	uc004fnc.3	P61758	OTTHUMG00000022666	ENST00000286428.5:c.524-1G>C	X.37:g.154467052G>C						VBP1_uc004fnd.2_Splice_Site_p.N138_splice	p.N175_splice	NM_003372	NP_003363	P61758	PFD3_HUMAN			6	583	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)							B2R8L5|O55228|Q15765|Q5JT81|Q86X96	Splice_Site	SNP	ENST00000286428.5	37	c.524_splice	CCDS14765.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.232152	0.58777	.	.	ENSG00000155959	ENST00000535916;ENST00000286428	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0552	0.71908	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VBP1	154120246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.781000	0.85668	2.359000	0.80004	0.594000	0.82650	.		0.338	VBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058806.1		Intron	10	191	0	0	0	0	10	191				
