#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
HSPG2	3339	broad.mit.edu	37	1	22157584	22157584	+	Splice_Site	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:22157584C>G	ENST00000374695.3	-	85	11642		c.e85-1		HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						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)	p.?(1)		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)	GACCGCCATTCTGCAAAGCAG	0.637																																						uc001bfj.2		NA																	1	Unknown(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.e85-1		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						27.0	31.0	30.0					1																	22157584		2202	4299	6501	SO:0001630	splice_region_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22157584C>G	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.11563-1G>C	1.37:g.22157584C>G						HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Splice_Site_p.N3856_splice	p.N3855_splice	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)	85	11603	-		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)						Q16287|Q5SZI3|Q9H3V5	Splice_Site	SNP	ENST00000374695.3	37	c.11563_splice	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	c	16.34	3.095670	0.56075	.	.	ENSG00000142798	ENST00000374695	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0336	0.80603	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPG2	22030171	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	5.174000	0.65015	2.558000	0.86282	0.457000	0.33378	.		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	Intron	3	18	0	0	0	0	3	18				
FNDC5	252995	broad.mit.edu	37	1	33330273	33330273	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:33330273G>T	ENST00000373471.3	-	5	691	c.625C>A	c.(625-627)Cgc>Agc	p.R209S	FNDC5_ENST00000481487.1_5'UTR|FNDC5_ENST00000496770.1_Missense_Mutation_p.R134S|FNDC5_ENST00000609187.1_Missense_Mutation_p.R134S	NM_001171940.1|NM_153756.2	NP_001165411.2|NP_715637.2	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	209					positive regulation of brown fat cell differentiation (GO:0090336)|response to muscle activity (GO:0014850)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCTTGCTGCGGAGAAGCCCC	0.577																																						uc001bwg.2		NA																	0				ovary(1)	1						c.(400-402)CGC>AGC		fibronectin type III domain containing 5							131.0	112.0	118.0					1																	33330273		2203	4300	6503	SO:0001583	missense	252995					integral to membrane|peroxisomal membrane		g.chr1:33330273G>T	AK092102	CCDS369.1, CCDS369.2, CCDS65483.1	1p34.3	2013-10-16			ENSG00000160097	ENSG00000160097		"""Fibronectin type III domain containing"""	20240	protein-coding gene	gene with protein product	"""irisin"""	611906				12384288, 22237023, 24120943	Standard	NM_153756		Approved	FRCP2	uc001bwg.3	Q8NAU1	OTTHUMG00000004015	ENST00000373471.3:c.625C>A	1.37:g.33330273G>T	ENSP00000362570:p.Arg209Ser					FNDC5_uc001bwe.2_RNA|FNDC5_uc001bwf.1_Missense_Mutation_p.R134S	p.R134S	NM_153756	NP_715637	Q8NAU1	FNDC5_HUMAN			5	615	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	193			Cytoplasmic (Potential).		A6NMC9|D3DPQ6|Q6P6D9|Q7Z676	Missense_Mutation	SNP	ENST00000373471.3	37	c.400C>A		.	.	.	.	.	.	.	.	.	.	G	26.7	4.761550	0.89932	.	.	ENSG00000160097	ENST00000373471	.	.	.	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.85130	0.997;0.982	T	0.76977	-0.2759	9	0.72032	D	0.01	-16.5795	18.1342	0.89612	0.0:0.0:1.0:0.0	.	134;193	Q8NAU1-3;Q8NAU1	.;FNDC5_HUMAN	S	134	.	ENSP00000362570:R134S	R	-	1	0	FNDC5	33102860	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.316000	0.96319	2.450000	0.82876	0.561000	0.74099	CGC		0.577	FNDC5-001	KNOWN	non_ATG_start|basic	protein_coding	protein_coding	OTTHUMT00000011467.3	NM_153756		11	38	1	0	3.07e-06	5.41e-06	11	38				
CSMD2	114784	broad.mit.edu	37	1	34092182	34092182	+	Splice_Site	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:34092182C>T	ENST00000373380.1	-	12	2040		c.e12-1		CSMD2_ENST00000373381.4_Splice_Site|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_Splice_Site			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTGATTCTCCTGCCGAGATA	0.557																																						uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.e33-1		CUB and Sushi multiple domains 2							35.0	32.0	33.0					1																	34092182		2203	4299	6502	SO:0001630	splice_region_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34092182C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1820-1G>A	1.37:g.34092182C>T						CSMD2_uc001bxm.1_Splice_Site_p.G1734_splice|CSMD2_uc001bxo.1_Splice_Site_p.G607_splice	p.G1694_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			33	5110	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)						B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Splice_Site	SNP	ENST00000373380.1	37	c.5081_splice		.	.	.	.	.	.	.	.	.	.	C	21.9	4.215787	0.79352	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9709	0.92715	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD2	33864769	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.779000	0.85648	2.728000	0.93425	0.655000	0.94253	.		0.557	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	Intron	5	11	0	0	0	0	5	11				
ZMYM1	79830	broad.mit.edu	37	1	35580175	35580175	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:35580175G>C	ENST00000373330.1	+	11	2918	c.2744G>C	c.(2743-2745)gGa>gCa	p.G915A	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.G915A			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	915						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATCTGGGATGGAACAGAGGAA	0.294																																						uc001bym.2		NA																	0					0						c.(2743-2745)GGA>GCA		zinc finger, MYM domain containing 1							17.0	17.0	17.0					1																	35580175		1782	4049	5831	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580175G>C	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2744G>C	1.37:g.35580175G>C	ENSP00000362427:p.Gly915Ala					ZMYM1_uc001byn.2_Missense_Mutation_p.G915A|ZMYM1_uc010ohu.1_Missense_Mutation_p.G896A|ZMYM1_uc001byo.2_Missense_Mutation_p.G555A|ZMYM1_uc009vut.2_Missense_Mutation_p.G840A	p.G915A	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			11	2892	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	915					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.2744G>C	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	1.695	-0.503083	0.04261	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.20463	2.07;2.07;2.07	4.21	1.33	0.21861	Ribonuclease H-like (1);	1.116910	0.06821	N	0.792294	T	0.21718	0.0523	L	0.51422	1.61	0.28643	N	0.907051	P;P	0.52316	0.952;0.884	B;B	0.44224	0.444;0.35	T	0.22695	-1.0209	9	.	.	.	-2.8111	6.0513	0.19787	0.3231:0.0:0.6769:0.0	.	896;915	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	A	915;840;915	ENSP00000352920:G915A;ENSP00000362426:G840A;ENSP00000362427:G915A	.	G	+	2	0	ZMYM1	35352762	0.995000	0.38212	0.953000	0.39169	0.006000	0.05464	0.540000	0.23191	0.326000	0.23384	0.557000	0.71058	GGA		0.294	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		4	19	0	0	0	0	4	19				
ZSWIM5	57643	broad.mit.edu	37	1	45516821	45516821	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:45516821G>C	ENST00000359600.5	-	5	1562	c.1357C>G	c.(1357-1359)Ctg>Gtg	p.L453V		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	453						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CCATCCTCCAGGGGACAGACA	0.517																																						uc001cnd.2		NA																	0					0						c.(1357-1359)CTG>GTG		zinc finger, SWIM domain containing 5							88.0	88.0	88.0					1																	45516821		2025	4188	6213	SO:0001583	missense	57643						zinc ion binding	g.chr1:45516821G>C	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1357C>G	1.37:g.45516821G>C	ENSP00000352614:p.Leu453Val						p.L453V	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			5	1585	-	Acute lymphoblastic leukemia(166;0.155)		453					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.1357C>G	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353020	0.61293	.	.	ENSG00000162415	ENST00000359600	T	0.45276	0.9	4.84	1.95	0.26073	.	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.70275	2.135	0.58432	D	0.999999	D	0.52996	0.957	P	0.57620	0.824	T	0.53648	-0.8409	10	0.07644	T	0.81	-7.8927	8.325	0.32151	0.3117:0.0:0.6883:0.0	.	453	Q9P217	ZSWM5_HUMAN	V	453	ENSP00000352614:L453V	ENSP00000352614:L453V	L	-	1	2	ZSWIM5	45289408	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.214000	0.42853	0.731000	0.32448	-0.140000	0.14226	CTG		0.517	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		35	56	0	0	0	0	35	56				
ACOT11	26027	broad.mit.edu	37	1	55059688	55059688	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:55059688C>T	ENST00000371316.3	+	5	529	c.447C>T	c.(445-447)ttC>ttT	p.F149F	ACOT11_ENST00000343744.2_Silent_p.F149F|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	149	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TGGCCACCTTCGTGGCCCGCC	0.632																																					Ovarian(148;1440 1861 22015 32453 51933)	uc001cxm.1		NA																	0				central_nervous_system(1)	1						c.(445-447)TTC>TTT		thioesterase, adipose associated isoform BFIT1							65.0	64.0	64.0					1																	55059688		2203	4300	6503	SO:0001819	synonymous_variant	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55059688C>T	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.447C>T	1.37:g.55059688C>T						ACOT11_uc001cxj.1_Silent_p.F27F|ACOT11_uc001cxk.2_Silent_p.F115F|ACOT11_uc001cxl.1_Silent_p.F149F	p.F149F	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN			5	529	+			149			Acyl coenzyme A hydrolase 1.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Silent	SNP	ENST00000371316.3	37	c.447C>T	CCDS592.1																																																																																				0.632	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		8	49	0	0	0	0	8	49				
DPYD	1806	broad.mit.edu	37	1	98015229	98015229	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:98015229T>A	ENST00000370192.3	-	12	1511	c.1411A>T	c.(1411-1413)Act>Tct	p.T471S		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	471					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GCTTCACTAGTTTGCATAGTT	0.403																																						uc001drv.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(1411-1413)ACT>TCT		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						128.0	109.0	115.0					1																	98015229		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98015229T>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1411A>T	1.37:g.98015229T>A	ENSP00000359211:p.Thr471Ser						p.T471S	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	12	1548	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	471			FAD (Potential).		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1411A>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243099	0.39697	.	.	ENSG00000188641	ENST00000370192	D	0.86956	-2.19	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.80059	0.4554	L	0.58969	1.84	0.80722	D	1	B	0.25312	0.123	B	0.25291	0.059	T	0.77043	-0.2734	10	0.30854	T	0.27	-22.3289	16.8061	0.85666	0.0:0.0:0.0:1.0	.	471	Q12882	DPYD_HUMAN	S	471	ENSP00000359211:T471S	ENSP00000359211:T471S	T	-	1	0	DPYD	97787817	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	5.799000	0.69101	2.367000	0.80283	0.528000	0.53228	ACT		0.403	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		10	21	0	0	0	0	10	21				
SYPL2	284612	broad.mit.edu	37	1	110020605	110020605	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:110020605T>A	ENST00000369872.3	+	5	838	c.622T>A	c.(622-624)Tct>Act	p.S208T	SYPL2_ENST00000401021.3_Intron	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	208	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGCCACGCCCTCTATGGGCCT	0.637																																						uc001dxp.2		NA																	0				ovary(1)	1						c.(622-624)TCT>ACT		mitsugumin 29							40.0	42.0	42.0					1																	110020605		2099	4214	6313	SO:0001583	missense	284612					integral to membrane|synaptic vesicle	transporter activity	g.chr1:110020605T>A	AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"""mitsugumin-29"""					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.622T>A	1.37:g.110020605T>A	ENSP00000358888:p.Ser208Thr					SYPL2_uc001dxo.2_Missense_Mutation_p.S208T|SYPL2_uc010ovk.1_Intron|SYPL2_uc001dxq.2_Missense_Mutation_p.S116T	p.S208T	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)	5	988	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	208			Vesicular (Potential).|MARVEL.		A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Missense_Mutation	SNP	ENST00000369872.3	37	c.622T>A	CCDS41365.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.906068	0.52333	.	.	ENSG00000143028	ENST00000369872	T	0.26810	1.71	6.04	6.04	0.98038	Marvel (1);MARVEL-like domain (1);	0.051853	0.85682	D	0.000000	T	0.22205	0.0535	L	0.38733	1.17	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.991	P;P;P	0.57620	0.76;0.824;0.73	T	0.02877	-1.1099	10	0.17369	T	0.5	.	15.5589	0.76223	0.0:0.0:0.0:1.0	.	116;208;208	Q14DL7;Q5VXT5;Q5VXT5-2	.;SYPL2_HUMAN;.	T	208	ENSP00000358888:S208T	ENSP00000358888:S208T	S	+	1	0	SYPL2	109822128	0.018000	0.18449	1.000000	0.80357	0.925000	0.55904	1.327000	0.33746	2.317000	0.78254	0.459000	0.35465	TCT		0.637	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1	NM_001006603		9	29	0	0	0	0	9	29				
TRIM45	80263	broad.mit.edu	37	1	117656090	117656090	+	Silent	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:117656090C>G	ENST00000256649.4	-	5	2011	c.1485G>C	c.(1483-1485)gtG>gtC	p.V495V	TRIM45_ENST00000369464.3_Silent_p.V477V|TRIM45_ENST00000369461.3_Silent_p.V438V	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	495					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TCCTCACCATCACAGTGAATG	0.552																																						uc001egz.2		NA																	0				central_nervous_system(1)	1						c.(1483-1485)GTG>GTC		tripartite motif-containing 45 isoform 1							65.0	60.0	62.0					1																	117656090		2203	4300	6503	SO:0001819	synonymous_variant	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117656090C>G		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.1485G>C	1.37:g.117656090C>G						TRIM45_uc009whe.2_Silent_p.V477V|TRIM45_uc001eha.2_Silent_p.V391V	p.V495V	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	5	2073	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	495			Filamin.		Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Silent	SNP	ENST00000256649.4	37	c.1485G>C	CCDS893.1																																																																																				0.552	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		8	14	0	0	0	0	8	14				
FLG	2312	broad.mit.edu	37	1	152277553	152277553	+	Missense_Mutation	SNP	C	C	T	rs147429418	byFrequency	TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:152277553C>T	ENST00000368799.1	-	3	9844	c.9809G>A	c.(9808-9810)cGc>cAc	p.R3270H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3270	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTGGAGCGGTCTGCAGA	0.577									Ichthyosis				C|||	23	0.00459265	0.0008	0.0	5008	,	,		19544	0.0208		0.0	False		,,,				2504	0.001					uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(9808-9810)CGC>CAC		filaggrin		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	298.0	295.0	296.0		9809	-1.0	0.0	1	dbSNP_134	296	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLG	NM_002016.1	29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	3270/4062	152277553	3,13003	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277553C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9809G>A	1.37:g.152277553C>T	ENSP00000357789:p.Arg3270His						p.R3270H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9845	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3270			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9809G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	4.358	0.065944	0.08388	4.54E-4	1.16E-4	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00940	5.52	2.67	-1.02	0.10135	.	.	.	.	.	T	0.00524	0.0017	N	0.14661	0.345	0.09310	N	1	D	0.71674	0.998	P	0.55222	0.771	T	0.54728	-0.8250	9	0.87932	D	0	.	10.3285	0.43807	0.0:0.3607:0.6393:0.0	.	3270	P20930	FILA_HUMAN	H	3270;208	ENSP00000357789:R3270H	ENSP00000357786:R208H	R	-	2	0	FLG	150544177	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.045000	0.03528	-0.366000	0.08064	-0.876000	0.02978	CGC		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		93	380	0	0	0	0	93	380				
FLG	2312	broad.mit.edu	37	1	152279054	152279054	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:152279054C>T	ENST00000368799.1	-	3	8343	c.8308G>A	c.(8308-8310)Gca>Aca	p.A2770T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2770	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCTTGTGCCTGCTCATGG	0.587									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8308-8310)GCA>ACA		filaggrin							291.0	382.0	352.0					1																	152279054		2197	4298	6495	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279054C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8308G>A	1.37:g.152279054C>T	ENSP00000357789:p.Ala2770Thr						p.A2770T	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8344	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2770			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8308G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918292	0.33908	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01767	4.65	4.42	-1.93	0.07594	.	.	.	.	.	T	0.00784	0.0026	M	0.75447	2.3	0.09310	N	1	P	0.47762	0.9	B	0.38954	0.286	T	0.45991	-0.9223	9	0.18710	T	0.47	-3.0E-4	7.4888	0.27449	0.5435:0.219:0.2375:0.0	.	2770	P20930	FILA_HUMAN	T	2770;32	ENSP00000357789:A2770T	ENSP00000357786:A32T	A	-	1	0	FLG	150545678	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-4.671000	0.00200	-0.402000	0.07633	-0.534000	0.04291	GCA		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		17	587	0	0	0	0	17	587				
FLG	2312	broad.mit.edu	37	1	152283044	152283044	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:152283044A>G	ENST00000368799.1	-	3	4353	c.4318T>C	c.(4318-4320)Tct>Cct	p.S1440P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1440	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGGAAAGACCTTGAACGT	0.587									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4318-4320)TCT>CCT		filaggrin							204.0	199.0	201.0					1																	152283044		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283044A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4318T>C	1.37:g.152283044A>G	ENSP00000357789:p.Ser1440Pro					uc001ezv.2_5'Flank	p.S1440P	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4354	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1440			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4318T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260351	0.23051	.	.	ENSG00000143631	ENST00000368799	T	0.02345	4.33	3.1	-6.21	0.02065	.	.	.	.	.	T	0.00695	0.0023	L	0.55743	1.74	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.48007	-0.9072	9	0.25106	T	0.35	.	0.8473	0.01164	0.2915:0.3268:0.2213:0.1603	.	1440	P20930	FILA_HUMAN	P	1440	ENSP00000357789:S1440P	ENSP00000357789:S1440P	S	-	1	0	FLG	150549668	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.885000	0.04161	-1.477000	0.01872	-0.424000	0.05967	TCT		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		15	273	0	0	0	0	15	273				
CLK2	1196	broad.mit.edu	37	1	155240769	155240769	+	Splice_Site	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:155240769C>G	ENST00000368361.4	-	2	316		c.e2-1		CLK2_ENST00000355560.4_Splice_Site|CLK2_ENST00000536801.1_Splice_Site|CLK2_ENST00000361168.5_Splice_Site|CLK2_ENST00000497188.1_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2						negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGCGGCATCTGGAAGGCAA	0.527								Other conserved DNA damage response genes																														uc001fjy.2		NA																	0					0						c.e2-1	Other_conserved_DNA_damage_response_genes	CDC-like kinase 2							101.0	105.0	104.0					1																	155240769		2203	4300	6503	SO:0001630	splice_region_variant	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155240769C>G	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1-1G>C	1.37:g.155240769C>G						RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Splice_Site_p.M1_splice|CLK2_uc001fjx.2_Splice_Site|CLK2_uc009wqm.2_Splice_Site_p.M1_splice	p.M1_splice	NM_003993	NP_003984	P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	291	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)							B1AVS9|B5MBX6|Q96CQ0	Splice_Site	SNP	ENST00000368361.4	37	c.1_splice																																																																																					0.527	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993	Intron	16	144	0	0	0	0	16	144				
BCAN	63827	broad.mit.edu	37	1	156621474	156621474	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:156621474G>A	ENST00000329117.5	+	7	1626	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.T430T	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	430	Glu-rich.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCTAGGACGCTCCTAGGTA	0.557																																						uc001fpp.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1288-1290)ACG>ACA		brevican isoform 1							64.0	66.0	65.0					1																	156621474		2203	4300	6503	SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156621474G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1290G>A	1.37:g.156621474G>A						BCAN_uc001fpo.2_Silent_p.T430T	p.T430T	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			7	1626	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		430			Glu-rich.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	c.1290G>A	CCDS1149.1																																																																																				0.557	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		16	80	0	0	0	0	16	80				
NTRK1	4914	broad.mit.edu	37	1	156849868	156849868	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:156849868C>T	ENST00000524377.1	+	16	2165	c.2124C>T	c.(2122-2124)agC>agT	p.S708S	NTRK1_ENST00000392302.2_Silent_p.S672S|NTRK1_ENST00000368196.3_Silent_p.S702S|NTRK1_ENST00000358660.3_Silent_p.S705S|NTRK1_ENST00000531606.1_3'UTR	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	708	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CCACCGAGAGCGACGTGTGGA	0.647			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1		NA		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		0				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(2122-2124)AGC>AGT		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						91.0	84.0	86.0					1																	156849868		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156849868C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2124C>T	1.37:g.156849868C>T		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.S672S|NTRK1_uc009wsi.1_Silent_p.S407S|NTRK1_uc001fqi.1_Silent_p.S702S|NTRK1_uc009wsk.1_Silent_p.S705S	p.S708S	NM_002529	NP_002520	P04629	NTRK1_HUMAN			16	2180	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		708			Cytoplasmic (Potential).|Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.2124C>T	CCDS1161.1																																																																																				0.647	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		5	82	0	0	0	0	5	82				
FCRL3	115352	broad.mit.edu	37	1	157667698	157667698	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:157667698G>T	ENST00000368184.3	-	5	601	c.310C>A	c.(310-312)Ctg>Atg	p.L104M	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.L104M	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	104	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AAAGCCTGCAGGATCAGCCAG	0.468																																						uc001frb.2		NA																	0				ovary(3)|breast(1)	4						c.(310-312)CTG>ATG		Fc receptor-like 3 precursor							53.0	48.0	50.0					1																	157667698		2203	4299	6502	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667698G>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.310C>A	1.37:g.157667698G>T	ENSP00000357167:p.Leu104Met					FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.L104M|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Translation_Start_Site|FCRL3_uc001frc.1_Missense_Mutation_p.L104M	p.L104M	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			5	602	-	all_hematologic(112;0.0378)		104			Ig-like C2-type 2.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.310C>A	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612313	0.46631	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.00816	5.66;5.66	5.65	1.58	0.23477	Immunoglobulin-like (1);	0.275715	0.19224	U	0.119596	T	0.02494	0.0076	M	0.91920	3.255	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.24512	-1.0158	10	0.72032	D	0.01	.	7.9641	0.30089	0.0741:0.0:0.5062:0.4197	.	104;104	Q96P31;Q96P31-6	FCRL3_HUMAN;.	M	104	ENSP00000357169:L104M;ENSP00000357167:L104M	ENSP00000292392:L104M	L	-	1	2	FCRL3	155934322	1.000000	0.71417	0.002000	0.10522	0.057000	0.15508	1.375000	0.34295	0.133000	0.18654	0.655000	0.94253	CTG		0.468	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		7	27	1	0	8.13e-05	0.000138603	7	27				
SPTA1	6708	broad.mit.edu	37	1	158595971	158595971	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:158595971C>A	ENST00000368147.4	-	42	6055	c.5875G>T	c.(5875-5877)Gac>Tac	p.D1959Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1959					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D1959H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCACCAAGGTCTGCACCATTG	0.423																																						uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5875-5877)GAC>TAC		spectrin, alpha, erythrocytic 1							130.0	128.0	128.0					1																	158595971		1912	4120	6032	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158595971C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5875G>T	1.37:g.158595971C>A	ENSP00000357129:p.Asp1959Tyr						p.D1959Y	NM_003126	NP_003117	P02549	SPTA1_HUMAN			42	6074	-	all_hematologic(112;0.0378)		1959			Spectrin 19.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5875G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240426	0.58995	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50277	0.75;0.75	4.93	4.02	0.46733	.	0.239639	0.21586	N	0.072176	T	0.62853	0.2462	M	0.83118	2.625	0.51233	D	0.999914	D	0.89917	1.0	D	0.97110	1.0	T	0.70382	-0.4887	10	0.87932	D	0	.	13.2455	0.60020	0.0:0.8394:0.1606:0.0	.	1959	P02549	SPTA1_HUMAN	Y	1959;1956	ENSP00000357130:D1959Y;ENSP00000357129:D1956Y	ENSP00000357129:D1956Y	D	-	1	0	SPTA1	156862595	0.998000	0.40836	0.971000	0.41717	0.683000	0.39861	4.076000	0.57591	1.312000	0.45043	-0.223000	0.12442	GAC		0.423	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		8	34	1	0	1.13e-05	1.97e-05	8	34				
OR6K6	128371	broad.mit.edu	37	1	158724934	158724934	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:158724934T>G	ENST00000368144.2	+	1	425	c.329T>G	c.(328-330)cTg>cGg	p.L110R		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCCAAGATGCTGTCCTGCCTA	0.512																																						uc001fsw.1		NA																	0				skin(1)	1						c.(328-330)CTG>CGG		olfactory receptor, family 6, subfamily K,							123.0	121.0	122.0					1																	158724934		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158724934T>G	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.329T>G	1.37:g.158724934T>G	ENSP00000357126:p.Leu110Arg						p.L110R	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	329	+	all_hematologic(112;0.0378)		110			Extracellular (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.329T>G	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122397	0.77436	.	.	ENSG00000180433	ENST00000368144	T	0.00424	7.45	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36778	N	0.002411	T	0.01523	0.0049	H	0.98276	4.19	0.43734	D	0.996225	D	0.89917	1.0	D	0.91635	0.999	T	0.01771	-1.1277	10	0.87932	D	0	-22.5889	14.6756	0.68978	0.0:0.0:0.0:1.0	.	110	Q8NGW6	OR6K6_HUMAN	R	110	ENSP00000357126:L110R	ENSP00000357126:L110R	L	+	2	0	OR6K6	156991558	0.915000	0.31059	0.986000	0.45419	0.956000	0.61745	3.218000	0.51192	2.297000	0.77311	0.533000	0.62120	CTG		0.512	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		35	113	0	0	0	0	35	113				
IFI16	3428	broad.mit.edu	37	1	159021690	159021690	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:159021690C>G	ENST00000295809.7	+	10	2142	c.1887C>G	c.(1885-1887)atC>atG	p.I629M	IFI16_ENST00000368131.4_Missense_Mutation_p.I573M|IFI16_ENST00000430894.2_Missense_Mutation_p.I577M|IFI16_ENST00000448393.2_Missense_Mutation_p.I517M|IFI16_ENST00000368132.3_Missense_Mutation_p.I573M|IFI16_ENST00000340979.6_Missense_Mutation_p.I517M|IFI16_ENST00000359709.3_Missense_Mutation_p.I573M			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	629	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CAAAGAAGATCATTGCCATAG	0.423																																						uc001ftg.2		NA																	0				ovary(1)	1						c.(1717-1719)ATC>ATG		interferon, gamma-inducible protein 16							103.0	102.0	102.0					1																	159021690		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159021690C>G	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1887C>G	1.37:g.159021690C>G	ENSP00000295809:p.Ile629Met					IFI16_uc010pis.1_Missense_Mutation_p.I573M|IFI16_uc001fth.2_Missense_Mutation_p.I116M|IFI16_uc010pit.1_Missense_Mutation_p.I172M	p.I573M	NM_005531	NP_005522	Q16666	IF16_HUMAN			9	2009	+	all_hematologic(112;0.0429)		629			HIN-200 2.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.1719C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.173166|2.173166	0.38413|0.38413	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894|ENST00000448393	T;T;T;T;T|.	0.16897|.	2.31;2.31;2.31;2.31;2.31|.	4.85|4.85	-1.63|-1.63	0.08345|0.08345	.|.	.|.	.|.	.|.	.|.	T|.	0.14960|.	0.0361|.	L|L	0.52573|0.52573	1.65|1.65	0.09310|0.09310	N|N	1|1	D;D;D|.	0.69078|.	0.997;0.989;0.995|.	D;D;D|.	0.73708|.	0.981;0.934;0.954|.	T|.	0.33854|.	-0.9852|.	9|.	0.72032|.	D|.	0.01|.	.|.	1.0553|1.0553	0.01589|0.01589	0.1456:0.3426:0.1572:0.3547|0.1456:0.3426:0.1572:0.3547	.|.	577;517;573|.	E7EPR3;Q16666-3;Q16666-2|.	.;.;.|.	M|X	258;629;517;573;573;577|338	ENSP00000295809:I629M;ENSP00000342741:I517M;ENSP00000357113:I573M;ENSP00000357114:I573M;ENSP00000394935:I577M|.	ENSP00000295809:I629M|.	I|S	+|+	3|2	3|0	IFI16|IFI16	157288314|157288314	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.020000|0.020000	0.10135|0.10135	-0.500000|-0.500000	0.06405|0.06405	-0.527000|-0.527000	0.06374|0.06374	0.609000|0.609000	0.83330|0.83330	ATC|TCA		0.423	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		13	59	0	0	0	0	13	59				
CASQ1	844	broad.mit.edu	37	1	160160609	160160609	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:160160609T>A	ENST00000368078.3	+	1	264	c.68T>A	c.(67-69)cTg>cAg	p.L23Q	CASQ1_ENST00000368079.3_Missense_Mutation_p.L17Q			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	23	Poly-Leu.				endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGTTGCTGCTGGTGCTAGGG	0.592																																						uc010pja.1		NA																	0				central_nervous_system(1)	1						c.(67-69)CTG>CAG		calsequestrin 1							91.0	80.0	84.0					1																	160160609		2203	4300	6503	SO:0001583	missense	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160160609T>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.68T>A	1.37:g.160160609T>A	ENSP00000357057:p.Leu23Gln						p.L23Q	NM_001231	NP_001222	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	325	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		23			Poly-Leu.		B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	c.68T>A	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754509	0.49362	.	.	ENSG00000143318	ENST00000368079;ENST00000368078	T;T	0.75938	-0.98;-0.98	4.11	4.11	0.48088	.	0.264555	0.31051	N	0.008353	T	0.58452	0.2123	L	0.59436	1.845	0.26132	N	0.980397	B	0.26577	0.153	B	0.35899	0.213	T	0.54384	-0.8302	10	0.35671	T	0.21	.	11.164	0.48533	0.0:0.0:0.0:1.0	.	23	P31415	CASQ1_HUMAN	Q	17;23	ENSP00000357058:L17Q;ENSP00000357057:L23Q	ENSP00000357057:L23Q	L	+	2	0	CASQ1	158427233	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	4.363000	0.59473	1.742000	0.51746	0.369000	0.22263	CTG		0.592	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		9	38	0	0	0	0	9	38				
DCAF8	50717	broad.mit.edu	37	1	160209906	160209906	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:160209906C>G	ENST00000368073.3	-	4	738	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	DCAF8_ENST00000475733.1_Missense_Mutation_p.E102Q|DCAF8_ENST00000368074.1_Missense_Mutation_p.E102Q|DCAF8_ENST00000610139.1_Missense_Mutation_p.E102Q|DCAF8_ENST00000326837.2_Missense_Mutation_p.E102Q|DCAF8_ENST00000608310.1_Missense_Mutation_p.E256Q|DCAF8_ENST00000556710.1_Missense_Mutation_p.E256Q			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	102					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						tcctcttcctcttcctctGAG	0.537																																						uc001fvo.2		NA																	0				skin(2)	2						c.(304-306)GAG>CAG		DDB1 and CUL4 associated factor 8							66.0	57.0	60.0					1																	160209906		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160209906C>G	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.304G>C	1.37:g.160209906C>G	ENSP00000357052:p.Glu102Gln					DCAF8_uc001fvn.2_Missense_Mutation_p.E102Q|DCAF8_uc009wth.2_Missense_Mutation_p.E102Q|DCAF8_uc010pjb.1_Missense_Mutation_p.E102Q|DCAF8_uc010pjc.1_Missense_Mutation_p.E256Q|DCAF8_uc001fvq.3_Missense_Mutation_p.E102Q|DCAF8_uc001fvp.3_Missense_Mutation_p.E102Q|uc010pjd.1_3'UTR	p.E102Q	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN			4	616	-			102					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	c.304G>C	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171274	0.57584	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000556710	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.32;-0.32	4.89	4.89	0.63831	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.45867	U	0.000334	T	0.54431	0.1858	L	0.38175	1.15	0.42656	D	0.993468	P;B;B	0.46512	0.879;0.383;0.017	B;B;B	0.42916	0.402;0.116;0.009	T	0.60301	-0.7290	10	0.44086	T	0.13	-5.0535	16.8615	0.86019	0.0:1.0:0.0:0.0	.	256;102;102	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	Q	102;102;102;256;83;102;102;102;256	ENSP00000357052:E102Q;ENSP00000318227:E102Q;ENSP00000357053:E102Q;ENSP00000451989:E256Q;ENSP00000451235:E256Q	ENSP00000318227:E102Q	E	-	1	0	RP11-574F21.3;DCAF8	158476530	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.322000	0.72886	2.258000	0.74832	0.555000	0.69702	GAG		0.537	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		3	28	0	0	0	0	3	28				
F5	2153	broad.mit.edu	37	1	169511663	169511664	+	Nonsense_Mutation	DNP	TA	TA	AT			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:169511663_169511664TA>AT	ENST00000367797.3	-	13	2865_2866	c.2664_2665TA>AT	c.(2662-2667)caTAaa>caATaa	p.888_889HK>Q*	F5_ENST00000367796.3_Nonsense_Mutation_p.893_894HK>Q*	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	888	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CTCCCAACTTTATGTGCTAGTA	0.475																																						uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2662-2667)CATAAA>CAATAA		coagulation factor V precursor	Drotrecogin alfa(DB00055)																																			SO:0001587	stop_gained	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511663_169511664TA>AT	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2664_2665delinsAT	1.37:g.169511663_169511664delinsAT	ENSP00000356771:p.H888_K889delinsQ*						p.888_889HK>Q*	NM_000130	NP_000121	P12259	FA5_HUMAN			13	2809_2810	-	all_hematologic(923;0.208)		888_889			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Nonsense_Mutation	DNP	ENST00000367797.3	37	c.2664_2665TA>AT	CCDS1281.1																																																																																				0.475	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		32	133	0	0	0	0	32	133				
TNN	63923	broad.mit.edu	37	1	175086104	175086104	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:175086104G>T	ENST00000239462.4	+	10	2262	c.2149G>T	c.(2149-2151)Gac>Tac	p.D717Y		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	717	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.D717N(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTGGTGACCGACCGGGTGAC	0.512																																						uc001gkl.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2149-2151)GAC>TAC		tenascin N precursor							62.0	72.0	68.0					1																	175086104		2202	4300	6502	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086104G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2149G>T	1.37:g.175086104G>T	ENSP00000239462:p.Asp717Tyr						p.D717Y	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2262	+		Breast(1374;0.000962)	717			Fibronectin type-III 6.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2149G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250361	0.22880	.	.	ENSG00000120332	ENST00000239462	T	0.57752	0.38	5.37	3.5	0.40072	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.844365	0.10897	N	0.621992	T	0.67078	0.2855	M	0.69248	2.105	0.09310	N	1	D	0.63046	0.992	D	0.71870	0.975	T	0.51888	-0.8648	10	0.39692	T	0.17	.	8.5117	0.33222	0.2416:0.0:0.7584:0.0	.	717	Q9UQP3	TENN_HUMAN	Y	717	ENSP00000239462:D717Y	ENSP00000239462:D717Y	D	+	1	0	TNN	173352727	0.005000	0.15991	0.008000	0.14137	0.018000	0.09664	1.110000	0.31147	0.759000	0.33084	0.655000	0.94253	GAC		0.512	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		25	119	1	0	2.45e-14	4.86e-14	25	119				
PAPPA2	60676	broad.mit.edu	37	1	176525600	176525600	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:176525600G>C	ENST00000367662.3	+	2	1306	c.142G>C	c.(142-144)Gaa>Caa	p.E48Q	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E48Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	48					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTTGGAAGGAGAACGTTGTTG	0.572																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(142-144)GAA>CAA		pappalysin 2 isoform 1							92.0	92.0	92.0					1																	176525600		1995	4175	6170	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525600G>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.142G>C	1.37:g.176525600G>C	ENSP00000356634:p.Glu48Gln					PAPPA2_uc001gky.1_Missense_Mutation_p.E48Q|PAPPA2_uc009www.2_RNA	p.E48Q	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1306	+			48					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.142G>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647972	0.67358	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.42131	4.24;0.98	4.82	4.82	0.62117	.	0.335418	0.21274	U	0.077262	T	0.48205	0.1487	M	0.65975	2.015	0.34236	D	0.677123	P;P	0.52316	0.849;0.952	B;P	0.46585	0.229;0.521	T	0.67432	-0.5672	10	0.87932	D	0	-5.6585	13.391	0.60825	0.0:0.0:1.0:0.0	.	48;48	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	Q	48	ENSP00000356634:E48Q;ENSP00000356633:E48Q	ENSP00000356633:E48Q	E	+	1	0	PAPPA2	174792223	1.000000	0.71417	0.986000	0.45419	0.951000	0.60555	4.952000	0.63618	2.232000	0.73038	0.561000	0.74099	GAA		0.572	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			17	98	0	0	0	0	17	98				
IER5	51278	broad.mit.edu	37	1	181058479	181058479	+	Silent	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:181058479G>C	ENST00000367577.4	+	1	842	c.441G>C	c.(439-441)ccG>ccC	p.P147P	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	147										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						TGGAGGGGCCGCGCCAGGCGG	0.746																																						uc001got.3		NA																	0				pancreas(1)	1						c.(439-441)CCG>CCC		immediate early response 5							6.0	7.0	7.0					1																	181058479		2047	4051	6098	SO:0001819	synonymous_variant	51278							g.chr1:181058479G>C	BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.441G>C	1.37:g.181058479G>C							p.P147P	NM_016545	NP_057629	Q5VY09	IER5_HUMAN			1	842	+			147					B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Silent	SNP	ENST00000367577.4	37	c.441G>C	CCDS1343.1																																																																																				0.746	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085142.1	NM_016545		3	9	0	0	0	0	3	9				
CFHR2	3080	broad.mit.edu	37	1	196920114	196920114	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:196920114G>T	ENST00000367415.5	+	3	486	c.386G>T	c.(385-387)tGt>tTt	p.C129F	CFHR2_ENST00000367421.3_Missense_Mutation_p.C129F|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000476712.2_Missense_Mutation_p.C113F	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	129	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						AACATTTCATGTGTAGAACGG	0.383																																						uc001gtq.1		NA																	0				skin(2)|ovary(1)	3						c.(385-387)TGT>TTT		H factor (complement)-like 3 precursor							126.0	109.0	115.0					1																	196920114		2203	4300	6503	SO:0001583	missense	3080					extracellular region		g.chr1:196920114G>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.386G>T	1.37:g.196920114G>T	ENSP00000356385:p.Cys129Phe					CFHR2_uc001gtr.1_Intron	p.C129F	NM_005666	NP_005657	P36980	FHR2_HUMAN			3	463	+			129			Sushi 2.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.386G>T	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	12.64	1.999558	0.35320	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	D;D	0.99353	-5.77;-5.77	2.77	2.77	0.32553	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.36893	N	0.002360	D	0.99462	0.9809	H	0.95780	3.72	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96405	0.9300	10	0.54805	T	0.06	.	9.0616	0.36438	0.0:0.0:1.0:0.0	.	129	P36980	FHR2_HUMAN	F	129	ENSP00000356391:C129F;ENSP00000356385:C129F	ENSP00000356385:C129F	C	+	2	0	CFHR2	195186737	0.386000	0.25180	0.022000	0.16811	0.004000	0.04260	2.158000	0.42329	1.517000	0.48917	0.430000	0.28490	TGT		0.383	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		7	51	1	0	0.00448238	0.00736304	7	51				
CRB1	23418	broad.mit.edu	37	1	197403914	197403914	+	Missense_Mutation	SNP	C	C	A	rs575358595		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:197403914C>A	ENST00000367400.3	+	9	3056	c.2921C>A	c.(2920-2922)aCc>aAc	p.T974N	CRB1_ENST00000544212.1_Missense_Mutation_p.T455N|CRB1_ENST00000367399.2_Missense_Mutation_p.T862N|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.T950N|CRB1_ENST00000367397.1_Missense_Mutation_p.T355N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	974	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T974S(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGAGAACTCACCAATATCACA	0.333																																						uc001gtz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(2920-2922)ACC>AAC		crumbs homolog 1 precursor							75.0	79.0	78.0					1																	197403914		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197403914C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2921C>A	1.37:g.197403914C>A	ENSP00000356370:p.Thr974Asn					CRB1_uc010poz.1_Missense_Mutation_p.T950N|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.T862N|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.T455N|CRB1_uc001gub.1_Missense_Mutation_p.T623N	p.T974N	NM_201253	NP_957705	P82279	CRUM1_HUMAN			9	3056	+			974			Extracellular (Potential).|Laminin G-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.2921C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422872	0.83559	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.34	5.34	0.76211	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	D	0.83188	0.5200	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.997;0.996;1.0;0.994	T	0.81911	-0.0716	9	0.31617	T	0.26	.	19.0497	0.93038	0.0:1.0:0.0:0.0	.	950;862;623;974	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	N	950;974;862;455;355;623	ENSP00000438786:T950N;ENSP00000356370:T974N;ENSP00000356369:T862N;ENSP00000444556:T455N;ENSP00000356367:T355N	ENSP00000356367:T355N	T	+	2	0	CRB1	195670537	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.313000	0.78978	2.479000	0.83701	0.655000	0.94253	ACC		0.333	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		8	42	1	0	0.00307968	0.00507958	8	42				
PROX1	5629	broad.mit.edu	37	1	214170122	214170122	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:214170122G>C	ENST00000366958.4	+	2	852	c.244G>C	c.(244-246)Gat>Cat	p.D82H	PROX1_ENST00000261454.4_Missense_Mutation_p.D82H|PROX1_ENST00000435016.1_Missense_Mutation_p.D82H|PROX1_ENST00000498508.2_Missense_Mutation_p.D82H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	82					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTCGTATGAAGATGCCATGAT	0.483																																						uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(244-246)GAT>CAT		prospero homeobox 1							90.0	86.0	88.0					1																	214170122		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170122G>C	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.244G>C	1.37:g.214170122G>C	ENSP00000355925:p.Asp82His					PROX1_uc001hkg.1_Missense_Mutation_p.D82H	p.D82H	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	516	+			82					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.244G>C	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342627	0.61073	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.36625	-0.9740	10	0.87932	D	0	-4.6208	20.3626	0.98863	0.0:0.0:1.0:0.0	.	82	Q92786	PROX1_HUMAN	H	82	ENSP00000419517:D82H;ENSP00000420283:D82H;ENSP00000355925:D82H;ENSP00000400694:D82H;ENSP00000261454:D82H	ENSP00000261454:D82H	D	+	1	0	PROX1	212236745	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.885000	0.99019	0.655000	0.94253	GAT		0.483	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		4	83	0	0	0	0	4	83				
USH2A	7399	broad.mit.edu	37	1	215821936	215821936	+	Missense_Mutation	SNP	G	G	A	rs139065588		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:215821936G>A	ENST00000307340.3	-	66	14902	c.14516C>T	c.(14515-14517)aCg>aTg	p.T4839M	USH2A_ENST00000366943.2_Missense_Mutation_p.T4839M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4839	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T4839K(1)|p.T4839M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAGGCCAGCGTCCCGATTTG	0.572										HNSCC(13;0.011)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18628	0.001		0.0	False		,,,				2504	0.0					uc001hku.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14515-14517)ACG>ATG		usherin isoform B		G	MET/THR	0,4406		0,0,2203	109.0	96.0	100.0		14516	-2.0	0.0	1	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	no	missense	USH2A	NM_206933.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	4839/5203	215821936	2,13004	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215821936G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14516C>T	1.37:g.215821936G>A	ENSP00000305941:p.Thr4839Met	HNSCC(13;0.011)					p.T4839M	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	66	14903	-			4839			Extracellular (Potential).|Fibronectin type-III 34.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14516C>T	CCDS31025.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	6.010	0.370200	0.11352	0.0	2.33E-4	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54479	0.57;0.57	5.63	-1.98	0.07480	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.599918	0.13788	N	0.362754	T	0.27900	0.0687	N	0.17674	0.51	0.09310	N	1	B	0.23490	0.086	B	0.19391	0.025	T	0.10314	-1.0635	10	0.44086	T	0.13	.	1.2638	0.02007	0.367:0.1034:0.3182:0.2114	.	4839	O75445	USH2A_HUMAN	M	4839	ENSP00000305941:T4839M;ENSP00000355910:T4839M	ENSP00000305941:T4839M	T	-	2	0	USH2A	213888559	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	1.119000	0.31258	-0.720000	0.04935	0.655000	0.94253	ACG		0.572	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		23	65	0	0	0	0	23	65				
TTC13	79573	broad.mit.edu	37	1	231076226	231076226	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:231076226C>A	ENST00000366661.4	-	7	756	c.749G>T	c.(748-750)cGg>cTg	p.R250L	TTC13_ENST00000366662.4_Missense_Mutation_p.R197L|TTC13_ENST00000414259.1_Missense_Mutation_p.R197L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	250										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCTGTACAGCCGTGCTGAGGG	0.423																																						uc001huf.3		NA																	0				ovary(1)|skin(1)	2						c.(748-750)CGG>CTG		tetratricopeptide repeat domain 13 isoform a							112.0	103.0	106.0					1																	231076226		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231076226C>A		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.749G>T	1.37:g.231076226C>A	ENSP00000355621:p.Arg250Leu					TTC13_uc009xfi.2_Missense_Mutation_p.R197L|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.R197L|TTC13_uc009xfk.1_Missense_Mutation_p.R140L	p.R250L	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	7	780	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	250			TPR 3.		B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.749G>T	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232438	0.95207	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259;ENST00000522399	T;T;T;T	0.73575	0.44;0.34;0.34;-0.76	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.78329	0.4266	N	0.19112	0.55	0.80722	D	1	P;D;P;P	0.69078	0.867;0.997;0.683;0.949	B;D;B;P	0.81914	0.266;0.995;0.149;0.492	T	0.78352	-0.2237	10	0.37606	T	0.19	-1.4026	19.1143	0.93331	0.0:1.0:0.0:0.0	.	175;197;197;250	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	L	250;197;197;140	ENSP00000355621:R250L;ENSP00000355622:R197L;ENSP00000416631:R197L;ENSP00000428622:R140L	ENSP00000355621:R250L	R	-	2	0	TTC13	229142849	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.757000	0.68766	2.520000	0.84964	0.655000	0.94253	CGG		0.423	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		7	35	1	0	0.00198382	0.00329456	7	35				
ACTN2	88	broad.mit.edu	37	1	236900470	236900470	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:236900470G>C	ENST00000366578.4	+	9	998	c.832G>C	c.(832-834)Gag>Cag	p.E278Q	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.E278Q|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	278					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGTGAATCAAGAGAATGAGAG	0.512																																						uc001hyf.2		NA																	0				ovary(4)|skin(1)	5						c.(832-834)GAG>CAG		actinin, alpha 2							124.0	113.0	117.0					1																	236900470		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236900470G>C	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.832G>C	1.37:g.236900470G>C	ENSP00000355537:p.Glu278Gln					ACTN2_uc001hyg.2_Missense_Mutation_p.E70Q|ACTN2_uc009xgi.1_Missense_Mutation_p.E278Q|ACTN2_uc010pxu.1_Missense_Mutation_p.E63Q|ACTN2_uc001hyh.2_5'Flank	p.E278Q	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		9	1036	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	278					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.832G>C	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	34	5.317909	0.95682	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.70749	-0.51;-0.51	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	M	0.84326	2.69	0.80722	D	1	D;P;D;P	0.71674	0.997;0.765;0.998;0.932	D;B;D;D	0.83275	0.996;0.413;0.996;0.915	D	0.87070	0.2159	10	0.72032	D	0.01	.	20.1768	0.98178	0.0:0.0:1.0:0.0	.	63;278;48;278	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	Q	278;278;47	ENSP00000443495:E278Q;ENSP00000355537:E278Q	ENSP00000355537:E278Q	E	+	1	0	ACTN2	234967093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.856000	0.99531	2.766000	0.95052	0.655000	0.94253	GAG		0.512	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		7	45	0	0	0	0	7	45				
MTR	4548	broad.mit.edu	37	1	236979822	236979822	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:236979822T>A	ENST00000366577.5	+	8	1137	c.743T>A	c.(742-744)gTg>gAg	p.V248E	MTR_ENST00000535889.1_Missense_Mutation_p.V248E|MTR_ENST00000418145.2_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	248	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTCATCAGCGTGTCTCATGGA	0.458																																						uc001hyi.3		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(742-744)GTG>GAG		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						156.0	149.0	151.0					1																	236979822		2203	4299	6502	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:236979822T>A	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.743T>A	1.37:g.236979822T>A	ENSP00000355536:p.Val248Glu					MTR_uc010pxv.1_RNA|MTR_uc010pxw.1_5'UTR|MTR_uc010pxx.1_Missense_Mutation_p.V248E|MTR_uc010pxy.1_Missense_Mutation_p.V248E|MTR_uc009xgj.1_Missense_Mutation_p.C79S	p.V248E	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	8	1166	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	248			Hcy-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.743T>A	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.061970	0.55432	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889	T;T	0.16324	2.35;2.35	5.25	5.25	0.73442	Homocysteine S-methyltransferase (4);	0.190313	0.44902	D	0.000415	T	0.48077	0.1480	H	0.94582	3.555	0.33280	D	0.562186	P;P;P	0.50272	0.933;0.933;0.933	P;P;P	0.60682	0.878;0.878;0.878	T	0.70178	-0.4943	10	0.87932	D	0	-14.3585	10.2237	0.43212	0.0:0.078:0.0:0.922	.	248;248;248	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	E	248	ENSP00000355536:V248E;ENSP00000441845:V248E	ENSP00000355536:V248E	V	+	2	0	MTR	235046445	1.000000	0.71417	0.997000	0.53966	0.041000	0.13682	4.289000	0.59013	2.215000	0.71742	0.460000	0.39030	GTG		0.458	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		26	101	0	0	0	0	26	101				
WDR64	128025	broad.mit.edu	37	1	241953918	241953918	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr1:241953918C>G	ENST00000366552.2	+	24	3094	c.2887C>G	c.(2887-2889)Cta>Gta	p.L963V	WDR64_ENST00000437684.2_Missense_Mutation_p.L796V	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	963										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTCAGTGTCTCTACTTTTCAA	0.353																																						uc001hzf.1		NA																	0				skin(1)	1						c.(1546-1548)CTA>GTA		WD repeat domain 64							152.0	158.0	156.0					1																	241953918		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241953918C>G	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2887C>G	1.37:g.241953918C>G	ENSP00000355510:p.Leu963Val					WDR64_uc001hzg.1_Missense_Mutation_p.L429V	p.L516V	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		14	1699	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	963					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1546C>G		.	.	.	.	.	.	.	.	.	.	C	12.80	2.045632	0.36085	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.40476	1.23;1.03;1.03	5.18	-1.64	0.08318	.	0.454089	0.18691	N	0.133880	T	0.38108	0.1028	L	0.57536	1.79	0.19300	N	0.999976	D;D	0.56968	0.967;0.978	P;P	0.50754	0.557;0.649	T	0.36065	-0.9763	10	0.19147	T	0.46	-11.6097	5.4771	0.16702	0.0:0.3234:0.1417:0.5349	.	963;516	B1ANS9;D1MPS4	WDR64_HUMAN;.	V	963;796;567	ENSP00000355510:L963V;ENSP00000402446:L796V;ENSP00000406656:L567V	ENSP00000355510:L963V	L	+	1	2	WDR64	240020541	0.996000	0.38824	0.970000	0.41538	0.487000	0.33371	0.528000	0.23002	-0.147000	0.11254	-0.294000	0.09567	CTA		0.353	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		26	84	0	0	0	0	26	84				
FAM208B	54906	broad.mit.edu	37	10	5799599	5799599	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:5799599G>A	ENST00000328090.5	+	17	7474	c.6849G>A	c.(6847-6849)gtG>gtA	p.V2283V		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2283																	GAGGCTTTGTGATATCAGATG	0.428																																						uc001iij.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(6847-6849)GTG>GTA		hypothetical protein LOC54906							249.0	236.0	240.0					10																	5799599		1901	4118	6019	SO:0001819	synonymous_variant	54906							g.chr10:5799599G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6849G>A	10.37:g.5799599G>A						C10orf18_uc001iik.2_Silent_p.V1127V	p.V2283V	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			17	7474	+			2283					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.6849G>A	CCDS41485.1																																																																																				0.428	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		6	155	0	0	0	0	6	155				
CELF2	10659	broad.mit.edu	37	10	11047378	11047378	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:11047378A>G	ENST00000379261.4	+	1	120	c.28A>G	c.(28-30)Atg>Gtg	p.M10V	CELF2_ENST00000416382.2_Missense_Mutation_p.M10V	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	10	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CGCTGTTACTATGAGAAATGA	0.413																																						uc001iki.3		NA																	0					0						c.(28-30)ATG>GTG		CUG triplet repeat, RNA binding protein 2							395.0	386.0	389.0					10																	11047378		1973	4160	6133	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11047378A>G	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.28A>G	10.37:g.11047378A>G	ENSP00000368563:p.Met10Val					CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.M10V	p.M10V	NM_001025077	NP_001020248	O95319	CELF2_HUMAN			1	120	+			10			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.28A>G	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	A	5.825	0.336453	0.11013	.	.	ENSG00000048740	ENST00000379261;ENST00000416382	T;T	0.78816	-1.21;-1.21	5.26	5.26	0.73747	.	.	.	.	.	T	0.63768	0.2539	N	0.14661	0.345	0.80722	D	1	B;B	0.16603	0.018;0.018	B;B	0.28553	0.091;0.091	T	0.58853	-0.7563	9	0.11182	T	0.66	.	15.4529	0.75290	1.0:0.0:0.0:0.0	.	10;10	B4DS31;O95319	.;CELF2_HUMAN	V	10	ENSP00000368563:M10V;ENSP00000406451:M10V	ENSP00000368563:M10V	M	+	1	0	CELF2	11087384	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.108000	0.77055	2.101000	0.63845	0.533000	0.62120	ATG		0.413	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				6	182	0	0	0	0	6	182				
ITGA8	8516	broad.mit.edu	37	10	15655677	15655677	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:15655677G>C	ENST00000378076.3	-	15	1888	c.1535C>G	c.(1534-1536)tCt>tGt	p.S512C		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	512					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGATGTCATAGAGTCTGGAAC	0.453																																						uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(1534-1536)TCT>TGT		integrin, alpha 8 precursor							143.0	150.0	148.0					10																	15655677		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15655677G>C	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1535C>G	10.37:g.15655677G>C	ENSP00000367316:p.Ser512Cys					ITGA8_uc010qcb.1_Missense_Mutation_p.S497C	p.S512C	NM_003638	NP_003629	P53708	ITA8_HUMAN			15	1535	-			512			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1535C>G	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398415	0.42512	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.48201	0.82	5.38	0.116	0.14647	Integrin alpha-2 (1);	0.386074	0.31989	N	0.006746	T	0.53850	0.1822	M	0.63843	1.955	0.09310	N	1	D;D	0.55800	0.966;0.973	P;P	0.56514	0.698;0.8	T	0.49103	-0.8974	10	0.51188	T	0.08	.	9.7155	0.40272	0.3894:0.0:0.6106:0.0	.	497;512	F5H818;P53708	.;ITA8_HUMAN	C	512;497	ENSP00000367316:S512C	ENSP00000367316:S512C	S	-	2	0	ITGA8	15695683	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	0.376000	0.20535	0.101000	0.17610	0.467000	0.42956	TCT		0.453	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		17	112	0	0	0	0	17	112				
MYO3A	53904	broad.mit.edu	37	10	26414348	26414348	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:26414348G>A	ENST00000265944.5	+	19	2091	c.1925G>A	c.(1924-1926)cGg>cAg	p.R642Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	642	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R642L(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTTTGCATTCGGGCAGATGAG	0.418																																						uc001isn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(1924-1926)CGG>CAG		myosin IIIA							87.0	79.0	81.0					10																	26414348		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26414348G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1925G>A	10.37:g.26414348G>A	ENSP00000265944:p.Arg642Gln					MYO3A_uc009xko.1_Missense_Mutation_p.R642Q|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.R642Q	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			19	2285	+			642			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.1925G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	7.824	0.718459	0.15372	.	.	ENSG00000095777	ENST00000265944	D	0.86769	-2.17	5.91	4.78	0.61160	Myosin head, motor domain (2);	0.106957	0.64402	N	0.000003	T	0.68677	0.3027	N	0.03050	-0.425	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.61907	-0.6966	10	0.09084	T	0.74	.	12.1968	0.54303	0.9331:0.0:0.0669:0.0	.	642	Q8NEV4	MYO3A_HUMAN	Q	642	ENSP00000265944:R642Q	ENSP00000265944:R642Q	R	+	2	0	MYO3A	26454354	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.031000	0.64134	1.048000	0.40298	-0.385000	0.06624	CGG		0.418	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		66	40	0	0	0	0	66	40				
PARD3	56288	broad.mit.edu	37	10	34420402	34420402	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:34420402C>G	ENST00000374789.3	-	23	3863	c.3538G>C	c.(3538-3540)Gag>Cag	p.E1180Q	PARD3_ENST00000545693.1_Missense_Mutation_p.E1164Q|PARD3_ENST00000374794.3_Missense_Mutation_p.E1068Q|PARD3_ENST00000350537.4_Missense_Mutation_p.E1134Q|PARD3_ENST00000374788.3_Missense_Mutation_p.E1177Q|PARD3_ENST00000545260.1_Missense_Mutation_p.E1090Q|PARD3_ENST00000346874.4_Missense_Mutation_p.E1143Q|PARD3_ENST00000374790.3_Missense_Mutation_p.E1120Q	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1180					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CAGGGTTGCTCAAAACTATAG	0.458																																						uc010qej.1		NA																	0				ovary(1)	1						c.(3538-3540)GAG>CAG		partitioning-defective protein 3 homolog							221.0	181.0	195.0					10																	34420402		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34420402C>G	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3538G>C	10.37:g.34420402C>G	ENSP00000363921:p.Glu1180Gln					PARD3_uc010qek.1_Missense_Mutation_p.E1177Q|PARD3_uc010qel.1_Missense_Mutation_p.E1143Q|PARD3_uc010qem.1_Missense_Mutation_p.E1164Q|PARD3_uc010qen.1_Missense_Mutation_p.E1134Q|PARD3_uc010qeo.1_Missense_Mutation_p.E1097Q|PARD3_uc010qep.1_Missense_Mutation_p.E1090Q|PARD3_uc010qeq.1_Missense_Mutation_p.E1068Q	p.E1180Q	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			23	3538	-		Breast(68;0.0707)	1180					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.3538G>C	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463754	0.63513	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.18502	2.26;2.21;2.33;2.33;2.3;2.25;2.21;2.26	5.94	5.94	0.96194	.	0.196730	0.52532	D	0.000077	T	0.35595	0.0937	L	0.43152	1.355	0.80722	D	1	P;D;P;P;P;P;P;P	0.63880	0.835;0.993;0.915;0.915;0.915;0.835;0.915;0.862	P;D;P;P;P;B;P;B	0.63033	0.466;0.91;0.555;0.555;0.555;0.371;0.555;0.352	T	0.00867	-1.1534	10	0.62326	D	0.03	.	20.3594	0.98849	0.0:1.0:0.0:0.0	.	1068;1090;1097;1134;1164;1143;1177;1180	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	Q	1164;1090;1180;1177;1143;1068;1134;1120	ENSP00000443147:E1164Q;ENSP00000440857:E1090Q;ENSP00000363921:E1180Q;ENSP00000363920:E1177Q;ENSP00000340591:E1143Q;ENSP00000363926:E1068Q;ENSP00000311986:E1134Q;ENSP00000363922:E1120Q	ENSP00000340591:E1143Q	E	-	1	0	PARD3	34460408	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	4.425000	0.59875	2.816000	0.96949	0.563000	0.77884	GAG		0.458	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		4	47	0	0	0	0	4	47				
PARD3	56288	broad.mit.edu	37	10	34420469	34420469	+	Silent	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:34420469C>G	ENST00000374789.3	-	23	3796	c.3471G>C	c.(3469-3471)ctG>ctC	p.L1157L	PARD3_ENST00000545693.1_Silent_p.L1141L|PARD3_ENST00000374794.3_Silent_p.L1045L|PARD3_ENST00000350537.4_Silent_p.L1111L|PARD3_ENST00000374788.3_Silent_p.L1154L|PARD3_ENST00000545260.1_Silent_p.L1067L|PARD3_ENST00000346874.4_Silent_p.L1120L|PARD3_ENST00000374790.3_Silent_p.L1097L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1157					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ATTCTTGCCTCAGACGCTGTA	0.433																																						uc010qej.1		NA																	0				ovary(1)	1						c.(3469-3471)CTG>CTC		partitioning-defective protein 3 homolog							215.0	179.0	191.0					10																	34420469		2203	4300	6503	SO:0001819	synonymous_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34420469C>G	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3471G>C	10.37:g.34420469C>G						PARD3_uc010qek.1_Silent_p.L1154L|PARD3_uc010qel.1_Silent_p.L1120L|PARD3_uc010qem.1_Silent_p.L1141L|PARD3_uc010qen.1_Silent_p.L1111L|PARD3_uc010qeo.1_Silent_p.L1074L|PARD3_uc010qep.1_Silent_p.L1067L|PARD3_uc010qeq.1_Silent_p.L1045L	p.L1157L	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			23	3471	-		Breast(68;0.0707)	1157			Potential.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	c.3471G>C	CCDS7178.1																																																																																				0.433	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		9	62	0	0	0	0	9	62				
ANKRD30A	91074	broad.mit.edu	37	10	37440991	37440991	+	Missense_Mutation	SNP	C	C	T	rs45515098		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:37440991C>T	ENST00000602533.1	+	12	1580	c.1481C>T	c.(1480-1482)cCg>cTg	p.P494L	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P494L|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P494L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	550					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTTATAGATCCGATGTTCCCA	0.294													.|||	1	0.000199681	0.0	0.0	5008	,	,		15581	0.0		0.0	False		,,,				2504	0.001					uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(1480-1482)CCG>CTG		ankyrin repeat domain 30A							115.0	103.0	106.0					10																	37440991		1792	4068	5860	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37440991C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1481C>T	10.37:g.37440991C>T	ENSP00000473551:p.Pro494Leu						p.P494L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			12	1580	+			550					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1481C>T		.	.	.	.	.	.	.	.	.	.	.	8.675	0.903663	0.17760	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05580	3.42;3.42	1.44	-2.88	0.05682	.	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	P	0.37083	0.581	B	0.28139	0.086	T	0.41556	-0.9502	9	0.26408	T	0.33	.	2.2373	0.04011	0.2554:0.3756:0.0:0.369	rs45515098	550	Q9BXX3	AN30A_HUMAN	L	494	ENSP00000354432:P494L;ENSP00000363792:P494L	ENSP00000354432:P494L	P	+	2	0	ANKRD30A	37480997	0.587000	0.26791	0.001000	0.08648	0.001000	0.01503	-0.342000	0.07801	-0.955000	0.03636	-2.429000	0.00215	CCG		0.294	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		9	43	0	0	0	0	9	43				
ZNF33A	7581	broad.mit.edu	37	10	38344884	38344884	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:38344884G>A	ENST00000458705.2	+	5	1987	c.1829G>A	c.(1828-1830)tGt>tAt	p.C610Y	ZNF33A_ENST00000307441.9_Missense_Mutation_p.C610Y|ZNF33A_ENST00000432900.2_Missense_Mutation_p.C617Y|ZNF33A_ENST00000374618.3_Missense_Mutation_p.C611Y|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	610					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CCCTATGAATGTAATGAATGT	0.363																																						uc001izh.2		NA																	0				ovary(2)|skin(1)	3						c.(1828-1830)TGT>TAT		zinc finger protein 33A isoform b							72.0	71.0	71.0					10																	38344884		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344884G>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1829G>A	10.37:g.38344884G>A	ENSP00000387713:p.Cys610Tyr					ZNF33A_uc001izg.2_Missense_Mutation_p.C611Y|ZNF33A_uc010qev.1_Missense_Mutation_p.C617Y|ZNF33A_uc001izi.1_Intron	p.C610Y	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	2007	+			610			C2H2-type 11.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.1829G>A	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440812	0.43326	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	1.69	1.69	0.24217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36854	N	0.002376	D	0.93687	0.7983	H	0.97131	3.945	0.29025	N	0.886075	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87391	0.2363	10	0.87932	D	0	.	8.8982	0.35479	0.0:0.0:1.0:0.0	.	617;610;611	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	Y	611;617;610;610	ENSP00000363747:C611Y;ENSP00000402467:C617Y;ENSP00000387713:C610Y;ENSP00000304268:C610Y	ENSP00000304268:C610Y	C	+	2	0	ZNF33A	38384890	1.000000	0.71417	0.987000	0.45799	0.919000	0.55068	8.253000	0.89842	0.902000	0.36520	0.313000	0.20887	TGT		0.363	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		11	58	0	0	0	0	11	58				
CSGALNACT2	55454	broad.mit.edu	37	10	43654256	43654256	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:43654256G>T	ENST00000374466.3	+	3	1090	c.755G>T	c.(754-756)cGc>cTc	p.R252L	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R252L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	252					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACCCTCTTCCGCCCTTTTGGA	0.393																																						uc001jan.2		NA																	0				ovary(1)	1						c.(754-756)CGC>CTC		chondroitin sulfate							98.0	93.0	95.0					10																	43654256		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43654256G>T	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.755G>T	10.37:g.43654256G>T	ENSP00000363590:p.Arg252Leu					CSGALNACT2_uc001jam.1_Missense_Mutation_p.R252L	p.R252L	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			3	1090	+			252			Lumenal (Potential).		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.755G>T	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404425	0.83230	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.23348	1.91;1.91	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.85630	2.765	0.80722	D	1	P;P	0.48503	0.911;0.897	P;B	0.46172	0.506;0.358	T	0.55114	-0.8191	10	0.87932	D	0	-9.3537	19.517	0.95169	0.0:0.0:1.0:0.0	.	252;252	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	L	252	ENSP00000363590:R252L;ENSP00000363588:R252L	ENSP00000363588:R252L	R	+	2	0	CSGALNACT2	42974262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.402000	0.97298	2.618000	0.88619	0.585000	0.79938	CGC		0.393	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		11	50	1	0	3.07e-06	5.41e-06	11	50				
ANK3	288	broad.mit.edu	37	10	61815535	61815535	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:61815535C>G	ENST00000280772.2	-	42	13137	c.12946G>C	c.(12946-12948)Gaa>Caa	p.E4316Q	ANK3_ENST00000355288.2_Missense_Mutation_p.E940Q|ANK3_ENST00000373827.2_Missense_Mutation_p.E1800Q|ANK3_ENST00000503366.1_Missense_Mutation_p.E1807Q|RP11-388P9.2_ENST00000414383.1_RNA	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4316					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTAGTCTCTTCTATTATAAGC	0.438																																						uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(12946-12948)GAA>CAA		ankyrin 3 isoform 1							265.0	251.0	256.0					10																	61815535		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61815535C>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12946G>C	10.37:g.61815535C>G	ENSP00000280772:p.Glu4316Gln					ANK3_uc001jkw.2_Missense_Mutation_p.E940Q|ANK3_uc009xpa.2_Missense_Mutation_p.E940Q|ANK3_uc001jkx.2_Missense_Mutation_p.E984Q|ANK3_uc010qih.1_Missense_Mutation_p.E1807Q|ANK3_uc001jkz.3_Missense_Mutation_p.E1800Q|ANK3_uc001jkv.2_Missense_Mutation_p.E339Q	p.E4316Q	NM_020987	NP_066267	Q12955	ANK3_HUMAN			42	13138	-			4316					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.12946G>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224230	0.79576	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.79845	-0.38;-0.65;-1.31;0.54;0.12;-0.64	6.03	6.03	0.97812	.	0.160368	0.29159	N	0.012974	D	0.83496	0.5267	N	0.19112	0.55	0.80722	D	1	B;B;B;D;B;B;P	0.60575	0.079;0.079;0.079;0.988;0.13;0.079;0.791	B;B;B;D;B;B;B	0.66196	0.029;0.032;0.07;0.942;0.07;0.032;0.203	D	0.83944	0.0313	10	0.51188	T	0.08	.	20.5596	0.99324	0.0:1.0:0.0:0.0	.	1807;940;1800;4316;1041;940;339	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	Q	4316;1800;398;88;940;1807;1786;1041	ENSP00000280772:E4316Q;ENSP00000362933:E1800Q;ENSP00000362926:E398Q;ENSP00000423057:E88Q;ENSP00000347436:E940Q;ENSP00000425236:E1807Q	ENSP00000280772:E4316Q	E	-	1	0	ANK3	61485541	1.000000	0.71417	0.991000	0.47740	0.756000	0.42949	5.677000	0.68142	2.868000	0.98415	0.555000	0.69702	GAA		0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		6	218	0	0	0	0	6	218				
AGAP5	729092	broad.mit.edu	37	10	75457410	75457410	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:75457410C>T	ENST00000374094.4	-	1	144	c.104G>A	c.(103-105)gGa>gAa	p.G35E	RP11-574K11.28_ENST00000580790.1_RNA|AGAP5_ENST00000443782.2_Missense_Mutation_p.G35E|RP11-464F9.1_ENST00000399449.3_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	35					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						GTCCCCAGCTCCTGCCTCATA	0.582																																						uc009xri.2		NA																	0					0						c.(103-105)GGA>GAA		ArfGAP with GTPase domain, ankyrin repeat and PH							57.0	63.0	62.0					10																	75457410		692	1590	2282	SO:0001583	missense	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75457410C>T		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23467	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 2"""	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.104G>A	10.37:g.75457410C>T	ENSP00000363207:p.Gly35Glu					AGAP5_uc001juu.3_5'UTR	p.G35E	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN			1	145	-			35					A8MSN5	Missense_Mutation	SNP	ENST00000374094.4	37	c.104G>A	CCDS44439.1	.	.	.	.	.	.	.	.	.	.	-	13.94	2.388321	0.42308	.	.	ENSG00000172650	ENST00000374094;ENST00000443782	D;D	0.88664	-2.41;-2.41	1.4	0.404	0.16355	.	0.122293	0.52532	D	0.000061	T	0.80539	0.4642	N	0.02802	-0.49	0.20074	N	0.999931	D	0.89917	1.0	D	0.80764	0.994	T	0.72646	-0.4230	10	0.12430	T	0.62	.	5.3394	0.15974	0.0:0.3798:0.6202:0.0	.	35	A6NIR3	AGAP5_HUMAN	E	35	ENSP00000363207:G35E;ENSP00000402792:G35E	ENSP00000363207:G35E	G	-	2	0	AGAP5	75127416	0.462000	0.25791	0.963000	0.40424	0.037000	0.13140	-0.036000	0.12185	0.140000	0.18849	0.184000	0.17185	GGA		0.582	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_001132585		21	152	0	0	0	0	21	152				
WAPAL	23063	broad.mit.edu	37	10	88232004	88232004	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:88232004C>G	ENST00000298767.5	-	7	2463	c.1991G>C	c.(1990-1992)gGc>gCc	p.G664A	WAPAL_ENST00000263070.7_5'Flank	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	664	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GCTCTTTAAGCCACTTAACAA	0.343																																						uc001kdo.2		NA																	0				ovary(1)	1						c.(1990-1992)GGC>GCC		wings apart-like homolog							121.0	110.0	114.0					10																	88232004		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88232004C>G	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1991G>C	10.37:g.88232004C>G	ENSP00000298767:p.Gly664Ala					WAPAL_uc009xsv.2_5'Flank|WAPAL_uc001kdn.2_Missense_Mutation_p.G701A|WAPAL_uc009xsw.2_Missense_Mutation_p.G658A	p.G664A	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			7	2433	-			664			WAPL.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.1991G>C	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945571	0.73672	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.46063	0.88	6.03	6.03	0.97812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	L	0.28608	0.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.39742	-0.9599	10	0.24483	T	0.36	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	658;664;701	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	A	749;664;749	ENSP00000298767:G664A	ENSP00000298767:G664A	G	-	2	0	WAPAL	88221984	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	GGC		0.343	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		4	41	0	0	0	0	4	41				
ABLIM1	3983	broad.mit.edu	37	10	116444079	116444079	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:116444079C>A	ENST00000369252.4	-	1	335	c.34G>T	c.(34-36)Gac>Tac	p.D12Y	ABLIM1_ENST00000533213.2_Missense_Mutation_p.D12Y	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	0					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TGATGAGGGTCCGTGAGCTCA	0.468																																						uc010qsh.1		NA																	0				breast(1)	1						c.(34-36)GAC>TAC		actin-binding LIM protein 1 isoform c							205.0	164.0	178.0					10																	116444079		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116444079C>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000369252.4:c.34G>T	10.37:g.116444079C>A	ENSP00000358256:p.Asp12Tyr					ABLIM1_uc010qsi.1_Missense_Mutation_p.D12Y|ABLIM1_uc009xyp.2_Missense_Mutation_p.D6Y|ABLIM1_uc001lbz.1_Intron	p.D12Y	NM_001003408	NP_001003408	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	1	336	-		Colorectal(252;0.0373)|Breast(234;0.231)	Error:Variant_position_missing_in_O14639_after_alignment					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000369252.4	37	c.34G>T	CCDS31288.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879326	0.33162	.	.	ENSG00000099204	ENST00000369252;ENST00000369267;ENST00000533213	T;T	0.28895	1.59;1.59	5.87	4.97	0.65823	.	.	.	.	.	T	0.20455	0.0492	N	0.08118	0	0.80722	D	1	P;P;P	0.46142	0.873;0.524;0.524	P;B;B	0.46825	0.528;0.305;0.305	T	0.05801	-1.0863	9	0.28530	T	0.3	.	11.1388	0.48390	0.0:0.9156:0.0:0.0844	.	12;12;12	F8W8M4;A6NKJ2;B3KVH2	.;.;.	Y	12	ENSP00000358256:D12Y;ENSP00000433629:D12Y	ENSP00000358256:D12Y	D	-	1	0	ABLIM1	116434069	1.000000	0.71417	0.976000	0.42696	0.346000	0.29079	3.711000	0.54868	1.633000	0.50488	0.655000	0.94253	GAC		0.468	ABLIM1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				12	62	1	0	3.27e-08	6.09e-08	12	62				
KCNK18	338567	broad.mit.edu	37	10	118969465	118969465	+	Silent	SNP	T	T	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:118969465T>C	ENST00000334549.1	+	3	810	c.810T>C	c.(808-810)gaT>gaC	p.D270D		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	270					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		GCAACCTGGATGAAGTTGGAC	0.527																																						uc010qsr.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(808-810)GAT>GAC		potassium channel, subfamily K, member 18							188.0	163.0	172.0					10																	118969465		2203	4300	6503	SO:0001819	synonymous_variant	338567					integral to membrane|plasma membrane		g.chr10:118969465T>C	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.810T>C	10.37:g.118969465T>C							p.D270D	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	810	+		Colorectal(252;0.19)	270			Cytoplasmic (Potential).		Q5SQQ8	Silent	SNP	ENST00000334549.1	37	c.810T>C	CCDS7598.1																																																																																				0.527	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		18	93	0	0	0	0	18	93				
RAB11FIP2	22841	broad.mit.edu	37	10	119768713	119768713	+	Silent	SNP	A	A	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:119768713A>T	ENST00000355624.3	-	5	1774	c.1335T>A	c.(1333-1335)acT>acA	p.T445T	RAB11FIP2_ENST00000476207.1_5'UTR|RAB11FIP2_ENST00000369199.3_Silent_p.T465T	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	445	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.				establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GATACCCTGCAGTGGCATCAA	0.458																																						uc001ldj.1		NA																	0					0						c.(1333-1335)ACT>ACA		RAB11 family interacting protein 2							99.0	95.0	97.0					10																	119768713		2203	4299	6502	SO:0001819	synonymous_variant	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119768713A>T	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1335T>A	10.37:g.119768713A>T						RAB11FIP2_uc009xyz.1_Silent_p.T465T	p.T445T	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	5	1775	-		Colorectal(252;0.235)	445			FIP-RBD.		A6NEI4|Q3I768|Q9Y2F0	Silent	SNP	ENST00000355624.3	37	c.1335T>A	CCDS7602.1																																																																																				0.458	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		25	73	0	0	0	0	25	73				
WDR11	55717	broad.mit.edu	37	10	122618278	122618278	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr10:122618278G>A	ENST00000263461.6	+	3	568	c.322G>A	c.(322-324)Gag>Aag	p.E108K		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	262					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AGCTCAGTGTGAGATCCAAGA	0.458																																						uc010qtf.1		NA																	0					0						c.(322-324)GAG>AAG		bromodomain and WD repeat domain containing 2							163.0	120.0	135.0					10																	122618278		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122618278G>A	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.322G>A	10.37:g.122618278G>A	ENSP00000263461:p.Glu108Lys					WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	p.E108K	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			3	560	+			108			WD 1.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.322G>A	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674148	0.88445	.	.	ENSG00000120008	ENST00000263461	T	0.28454	1.61	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.23261	-1.0193	10	0.06365	T	0.9	-28.2593	19.6383	0.95746	0.0:0.0:1.0:0.0	.	108	Q9BZH6	WDR11_HUMAN	K	108	ENSP00000263461:E108K	ENSP00000263461:E108K	E	+	1	0	WDR11	122608268	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.450000	0.97607	2.631000	0.89168	0.655000	0.94253	GAG		0.458	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			6	41	0	0	0	0	6	41				
OR51G1	79324	broad.mit.edu	37	11	4945474	4945474	+	Silent	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:4945474G>T	ENST00000321961.2	-	1	163	c.96C>A	c.(94-96)ccC>ccA	p.P32P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAAGCAGAAGGGAATAGAGA	0.468																																						uc010qyr.1		NA																	0				ovary(1)|skin(1)	2						c.(94-96)CCC>CCA		olfactory receptor, family 51, subfamily G,							93.0	76.0	82.0					11																	4945474		2201	4298	6499	SO:0001819	synonymous_variant	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945474G>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.96C>A	11.37:g.4945474G>T							p.P32P	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	96	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	32			Helical; Name=1; (Potential).		B9EGW8|Q6IFH6	Silent	SNP	ENST00000321961.2	37	c.96C>A	CCDS31366.1																																																																																				0.468	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		11	50	1	0	1.34e-11	2.59e-11	11	50				
TRIM34	53840	broad.mit.edu	37	11	5653889	5653889	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:5653889G>T	ENST00000514226.1	+	2	665	c.328G>T	c.(328-330)Gag>Tag	p.E110*	HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Nonsense_Mutation_p.E464*|TRIM6-TRIM34_ENST00000457787.2_Nonsense_Mutation_p.E110*|TRIM34_ENST00000429814.2_Nonsense_Mutation_p.E110*	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	110					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCTGTAAGGAGGATAGGAA	0.493																																						uc001mbf.2		NA																	0				ovary(1)	1						c.(1390-1392)GAG>TAG		tripartite motif-containing 6 and tripartite							72.0	66.0	68.0					11																	5653889		2201	4297	6498	SO:0001587	stop_gained	445372					intracellular	zinc ion binding	g.chr11:5653889G>T	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.328G>T	11.37:g.5653889G>T	ENSP00000422947:p.Glu110*					HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Nonsense_Mutation_p.E110*|TRIM34_uc009yeq.2_5'UTR|TRIM34_uc001mbi.2_Nonsense_Mutation_p.E110*|TRIM34_uc001mbj.2_Nonsense_Mutation_p.E110*	p.E464*	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	8	1634	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	464					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Nonsense_Mutation	SNP	ENST00000514226.1	37	c.1390G>T	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	39	7.795622	0.98495	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	.	.	.	3.53	1.65	0.23941	.	0.484856	0.15387	N	0.264996	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	7.6293	0.28230	0.2197:0.0:0.7803:0.0	.	.	.	.	X	464;110;110;110;464	.	ENSP00000402595:E110X	E	+	1	0	TRIM34;TRIM6-TRIM34	5610465	1.000000	0.71417	0.887000	0.34795	0.954000	0.61252	5.600000	0.67599	0.491000	0.27793	0.555000	0.69702	GAG		0.493	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		4	23	1	0	0.00024832	0.000421656	4	23				
OR52E6	390078	broad.mit.edu	37	11	5862952	5862952	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:5862952T>A	ENST00000329322.5	-	1	175	c.176A>T	c.(175-177)gAg>gTg	p.E59V	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.E63V	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTACATGGGCTCATGGAGACT	0.463																																						uc010qzq.1		NA																	0				central_nervous_system(1)	1						c.(175-177)GAG>GTG		olfactory receptor, family 52, subfamily E,							122.0	122.0	122.0					11																	5862952		2201	4296	6497	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862952T>A	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.176A>T	11.37:g.5862952T>A	ENSP00000328878:p.Glu59Val					TRIM5_uc001mbq.1_Intron	p.E59V	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	176	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	59			Helical; Name=2; (Potential).		Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.176A>T	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	T	2.362	-0.346310	0.05208	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00433	7.43;7.43	3.64	1.27	0.21489	GPCR, rhodopsin-like superfamily (1);	0.227349	0.30732	N	0.008997	T	0.00384	0.0012	M	0.64997	1.995	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.45512	-0.9256	10	0.66056	D	0.02	.	8.9324	0.35680	0.0:0.1847:0.0:0.8153	.	59	Q96RD3	O52E6_HUMAN	V	59;63	ENSP00000328878:E59V;ENSP00000369279:E63V	ENSP00000328878:E59V	E	-	2	0	OR52E6	5819528	0.000000	0.05858	0.021000	0.16686	0.075000	0.17131	-0.377000	0.07456	-0.222000	0.09958	-1.494000	0.00967	GAG		0.463	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		17	98	0	0	0	0	17	98				
OR2D2	120776	broad.mit.edu	37	11	6913477	6913477	+	Silent	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:6913477C>A	ENST00000299459.2	-	1	353	c.255G>T	c.(253-255)ctG>ctT	p.L85L		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	85					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCTGGAAAGCAGGTGGACTA	0.468																																						uc010rau.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(253-255)CTG>CTT		olfactory receptor, family 2, subfamily D,							107.0	92.0	97.0					11																	6913477		2201	4296	6497	SO:0001819	synonymous_variant	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913477C>A	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.255G>T	11.37:g.6913477C>A							p.L85L	NM_003700	NP_003691	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	255	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	85			Extracellular (Potential).		B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Silent	SNP	ENST00000299459.2	37	c.255G>T	CCDS31416.1																																																																																				0.468	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		9	52	1	0	0.000274275	0.000464424	9	52				
NLRP14	338323	broad.mit.edu	37	11	7064307	7064307	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:7064307G>A	ENST00000299481.4	+	4	1396	c.1050G>A	c.(1048-1050)atG>atA	p.M350I		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	350	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGTGGGCCATGAAAGTATTCA	0.428																																						uc001mfb.1		NA																	0				ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(1048-1050)ATG>ATA		NLR family, pyrin domain containing 14							103.0	106.0	105.0					11																	7064307		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064307G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1050G>A	11.37:g.7064307G>A	ENSP00000299481:p.Met350Ile						p.M350I	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1373	+			350			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1050G>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	5.467	0.271254	0.10349	.	.	ENSG00000158077	ENST00000299481	T	0.70282	-0.47	4.51	-0.528	0.11905	NACHT nucleoside triphosphatase (1);	0.907430	0.09286	N	0.823014	T	0.50343	0.1610	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32877	-0.9890	10	0.37606	T	0.19	.	5.1798	0.15154	0.3526:0.1494:0.4981:0.0	.	350	Q86W24	NAL14_HUMAN	I	350	ENSP00000299481:M350I	ENSP00000299481:M350I	M	+	3	0	NLRP14	7020883	0.000000	0.05858	0.000000	0.03702	0.487000	0.33371	-0.573000	0.05874	-0.006000	0.14370	0.655000	0.94253	ATG		0.428	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		15	87	0	0	0	0	15	87				
OR10A3	26496	broad.mit.edu	37	11	7960962	7960962	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:7960962C>T	ENST00000360759.3	-	1	179	c.106G>A	c.(106-108)Gtg>Atg	p.V36M		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	36					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGGTCACCACATAAATAACT	0.458																																						uc010rbi.1		NA																	0				pancreas(1)	1						c.(106-108)GTG>ATG		olfactory receptor, family 10, subfamily A,							93.0	91.0	92.0					11																	7960962		2201	4296	6497	SO:0001583	missense	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960962C>T	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.106G>A	11.37:g.7960962C>T	ENSP00000353988:p.Val36Met						p.V36M	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	106	-			36			Helical; Name=1; (Potential).		B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	c.106G>A	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	C	0.492	-0.874705	0.02550	.	.	ENSG00000170683	ENST00000360759	T	0.01304	5.03	4.95	-3.29	0.05017	.	0.259417	0.19753	U	0.106856	T	0.00936	0.0031	N	0.13299	0.325	0.09310	N	1	B	0.19583	0.037	B	0.25759	0.063	T	0.46005	-0.9222	10	0.34782	T	0.22	.	8.0964	0.30831	0.2088:0.3358:0.4555:0.0	.	36	P58181	O10A3_HUMAN	M	36	ENSP00000353988:V36M	ENSP00000353988:V36M	V	-	1	0	OR10A3	7917538	0.000000	0.05858	0.011000	0.14972	0.000000	0.00434	-2.772000	0.00779	-0.338000	0.08413	-2.906000	0.00092	GTG		0.458	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		16	43	0	0	0	0	16	43				
ABCC8	6833	broad.mit.edu	37	11	17482165	17482165	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:17482165G>T	ENST00000389817.3	-	6	949	c.881C>A	c.(880-882)gCc>gAc	p.A294D	ABCC8_ENST00000302539.4_Missense_Mutation_p.A294D			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	294					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCTCCCGAAGGCATGGCTGAG	0.642																																						uc001mnc.2		NA																	0				ovary(1)	1						c.(880-882)GCC>GAC		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						66.0	67.0	67.0					11																	17482165		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17482165G>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.881C>A	11.37:g.17482165G>T	ENSP00000374467:p.Ala294Asp					ABCC8_uc010rcy.1_Missense_Mutation_p.A293D	p.A294D	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	6	1007	-			294			Cytoplasmic (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.881C>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078893	0.94050	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.94457	-3.43;-3.43	5.53	5.53	0.82687	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.96842	0.8969	M	0.78801	2.425	0.80722	D	1	D;D	0.56968	0.978;0.968	P;P	0.59825	0.864;0.67	D	0.97066	0.9774	10	0.72032	D	0.01	.	19.4728	0.94969	0.0:0.0:1.0:0.0	.	293;294	B7Z4N0;Q09428	.;ABCC8_HUMAN	D	294;294;308	ENSP00000374467:A294D;ENSP00000303960:A294D	ENSP00000303960:A294D	A	-	2	0	ABCC8	17438741	1.000000	0.71417	0.999000	0.59377	0.793000	0.44817	9.869000	0.99810	2.608000	0.88229	0.561000	0.74099	GCC		0.642	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		14	73	1	0	3.46e-05	5.99e-05	14	73				
IGSF22	283284	broad.mit.edu	37	11	18741305	18741305	+	Silent	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:18741305C>A	ENST00000513874.1	-	7	793	c.654G>T	c.(652-654)ctG>ctT	p.L218L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	218	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTTCCTGAGCAGCCCCCGAA	0.517																																						uc009yht.2		NA																	0				ovary(4)|large_intestine(2)|kidney(1)	7						c.(652-654)CTG>CTT		immunoglobulin superfamily, member 22							146.0	147.0	147.0					11																	18741305		1893	4114	6007	SO:0001819	synonymous_variant	283284							g.chr11:18741305C>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.654G>T	11.37:g.18741305C>A						IGSF22_uc001mpa.2_RNA	p.L218L	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			7	844	-			218			Lys-rich.		A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.654G>T	CCDS41625.2																																																																																				0.517	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		19	158	1	0	1.02e-10	1.94e-10	19	158				
SLC6A5	9152	broad.mit.edu	37	11	20639323	20639323	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:20639323G>T	ENST00000525748.1	+	7	1426	c.1153G>T	c.(1153-1155)Ggg>Tgg	p.G385W		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	385					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.G385W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GATTTCTGCAGGGATTGAATA	0.502																																						uc001mqd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1153-1155)GGG>TGG		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						157.0	144.0	148.0					11																	20639323		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20639323G>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1153G>T	11.37:g.20639323G>T	ENSP00000434364:p.Gly385Trp					SLC6A5_uc009yic.2_Missense_Mutation_p.G150W	p.G385W	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			7	1426	+			385			Extracellular (Potential).		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1153G>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449603	0.84101	.	.	ENSG00000165970	ENST00000525748	T	0.77229	-1.08	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.90916	0.7145	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93250	0.6634	10	0.87932	D	0	.	17.8734	0.88817	0.0:0.0:1.0:0.0	.	385	Q9Y345	SC6A5_HUMAN	W	385	ENSP00000434364:G385W	ENSP00000434364:G385W	G	+	1	0	SLC6A5	20595899	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.334000	0.96470	2.383000	0.81215	0.655000	0.94253	GGG		0.502	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		10	89	1	0	0.000978159	0.00164478	10	89				
FBXO3	26273	broad.mit.edu	37	11	33768856	33768856	+	Silent	SNP	T	T	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:33768856T>C	ENST00000265651.3	-	10	1077	c.1059A>G	c.(1057-1059)ccA>ccG	p.P353P	FBXO3_ENST00000531080.1_Silent_p.P40P|FBXO3_ENST00000448981.2_Silent_p.P353P|FBXO3_ENST00000530401.1_Silent_p.P348P|FBXO3_ENST00000526785.1_Silent_p.P240P|FBXO3_ENST00000534136.1_Silent_p.P353P|FBXO3_ENST00000532057.1_Silent_p.P40P	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	353	ApaG. {ECO:0000255|PROSITE- ProRule:PRU00412}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GGCTGATGATTGGAAATTCAC	0.343																																						uc001muz.2		NA																	0				pancreas(1)	1						c.(1057-1059)CCA>CCG		F-box only protein 3 isoform 1							96.0	97.0	96.0					11																	33768856		2202	4298	6500	SO:0001819	synonymous_variant	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33768856T>C	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1059A>G	11.37:g.33768856T>C						FBXO3_uc010rej.1_Silent_p.P40P|FBXO3_uc001muy.2_Silent_p.P240P|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Silent_p.P353P|FBXO3_uc001mvb.1_Silent_p.P348P|FBXO3_uc010rek.1_RNA	p.P353P	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	10	1087	-		Lung NSC(402;0.0804)	353			ApaG.		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Silent	SNP	ENST00000265651.3	37	c.1059A>G	CCDS7887.1																																																																																				0.343	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		14	35	0	0	0	0	14	35				
HARBI1	283254	broad.mit.edu	37	11	46637351	46637351	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:46637351C>G	ENST00000326737.3	-	2	684	c.437G>C	c.(436-438)gGg>gCg	p.G146A	ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000451945.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	146						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						GTCAACCACCCCCATCACCCC	0.512																																						uc001ncy.2		NA																	0					0						c.(436-438)GGG>GCG		harbinger transposase derived 1							209.0	205.0	206.0					11																	46637351		2201	4299	6500	SO:0001583	missense	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46637351C>G	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.437G>C	11.37:g.46637351C>G	ENSP00000317743:p.Gly146Ala					KIAA0652_uc009yld.2_5'Flank|KIAA0652_uc001nda.2_5'Flank|KIAA0652_uc001ndb.2_5'Flank|KIAA0652_uc001ncz.2_5'Flank|KIAA0652_uc001ndc.2_5'Flank|KIAA0652_uc010rgv.1_5'Flank	p.G146A	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN			2	685	-			146					D3DQP9	Missense_Mutation	SNP	ENST00000326737.3	37	c.437G>C	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559005	0.86231	.	.	ENSG00000180423	ENST00000326737	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.87758	2.905	0.80722	D	1	D	0.65815	0.995	D	0.66716	0.946	D	0.86376	0.1726	9	0.59425	D	0.04	-16.681	18.8631	0.92281	0.0:1.0:0.0:0.0	.	146	Q96MB7	HARB1_HUMAN	A	146	.	ENSP00000317743:G146A	G	-	2	0	HARBI1	46593927	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.440000	0.80464	2.462000	0.83206	0.655000	0.94253	GGG		0.512	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		46	195	0	0	0	0	46	195				
OR4C15	81309	broad.mit.edu	37	11	55322242	55322242	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:55322242C>A	ENST00000314644.2	+	1	460	c.460C>A	c.(460-462)Ctc>Atc	p.L154I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CATGATGCAGCTCTTTGCTGA	0.478										HNSCC(20;0.049)																												uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(460-462)CTC>ATC		olfactory receptor, family 4, subfamily C,							144.0	128.0	133.0					11																	55322242		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322242C>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.460C>A	11.37:g.55322242C>A	ENSP00000324958:p.Leu154Ile	HNSCC(20;0.049)					p.L154I	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	460	+			100			Helical; Name=3; (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.460C>A	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	8.862	0.947122	0.18356	.	.	ENSG00000181939	ENST00000314644	T	0.00340	8.04	5.12	-0.482	0.12078	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	N	0.17838	0.53	0.09310	N	1	B	0.14805	0.011	B	0.21151	0.033	T	0.17561	-1.0365	9	0.34782	T	0.22	.	3.0797	0.06258	0.4013:0.2554:0.2614:0.0818	.	100	Q8NGM1	OR4CF_HUMAN	I	154	ENSP00000324958:L154I	ENSP00000324958:L154I	L	+	1	0	OR4C15	55078818	0.000000	0.05858	0.051000	0.19133	0.748000	0.42578	-1.437000	0.02419	0.274000	0.22072	0.385000	0.25706	CTC		0.478	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		29	110	1	0	1.25e-16	2.5e-16	29	110				
OR4C15	81309	broad.mit.edu	37	11	55322833	55322833	+	Missense_Mutation	SNP	A	A	T	rs112163324		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:55322833A>T	ENST00000314644.2	+	1	1051	c.1051A>T	c.(1051-1053)Atg>Ttg	p.M351L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AAAACAGGCCATGAGGAGAAT	0.333										HNSCC(20;0.049)																												uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(1051-1053)ATG>TTG		olfactory receptor, family 4, subfamily C,							71.0	70.0	71.0					11																	55322833		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322833A>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.1051A>T	11.37:g.55322833A>T	ENSP00000324958:p.Met351Leu	HNSCC(20;0.049)					p.M351L	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	1051	+			297			Cytoplasmic (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.1051A>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	A	7.109	0.575733	0.13623	.	.	ENSG00000181939	ENST00000314644	T	0.28895	1.59	5.02	2.58	0.30949	.	.	.	.	.	T	0.15262	0.0368	N	0.05487	-0.04	0.21064	N	0.999791	B	0.15141	0.012	B	0.17433	0.018	T	0.17992	-1.0351	9	0.56958	D	0.05	.	5.6605	0.17667	0.581:0.3301:0.0889:0.0	.	297	Q8NGM1	OR4CF_HUMAN	L	351	ENSP00000324958:M351L	ENSP00000324958:M351L	M	+	1	0	OR4C15	55079409	0.000000	0.05858	0.704000	0.30370	0.034000	0.12701	-0.197000	0.09518	0.912000	0.36772	0.317000	0.21355	ATG		0.333	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		9	55	0	0	0	0	9	55				
OR8K3	219473	broad.mit.edu	37	11	56086330	56086330	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:56086330C>A	ENST00000312711.1	+	1	548	c.548C>A	c.(547-549)cCt>cAt	p.P183H		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GACAGTCTCCCTTTGTTACCT	0.328																																						uc010rjf.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(547-549)CCT>CAT		olfactory receptor, family 8, subfamily K,							101.0	102.0	101.0					11																	56086330		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086330C>A	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.548C>A	11.37:g.56086330C>A	ENSP00000323555:p.Pro183His						p.P183H	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	548	+	Esophageal squamous(21;0.00448)		183			Extracellular (Potential).		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.548C>A	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628450	0.46944	.	.	ENSG00000181689	ENST00000312711	T	0.00211	8.54	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.424145	0.22708	N	0.056611	T	0.00637	0.0021	M	0.93106	3.38	0.43632	D	0.996023	P	0.44429	0.835	P	0.53224	0.721	T	0.64643	-0.6359	10	0.87932	D	0	.	16.8563	0.86007	0.0:1.0:0.0:0.0	.	183	Q8NH51	OR8K3_HUMAN	H	183	ENSP00000323555:P183H	ENSP00000323555:P183H	P	+	2	0	OR8K3	55842906	0.113000	0.22115	0.204000	0.23530	0.006000	0.05464	1.981000	0.40628	2.518000	0.84900	0.573000	0.79308	CCT		0.328	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		18	77	1	0	5.35e-07	9.63e-07	18	77				
P2RX3	5024	broad.mit.edu	37	11	57118259	57118259	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:57118259C>T	ENST00000263314.2	+	8	763	c.729C>T	c.(727-729)atC>atT	p.I243I		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	243					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)	p.I243I(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GCATTAAGATCGGCTGGGTGT	0.622																																						uc001nju.2		NA																	1	Substitution - coding silent(1)		prostate(1)		0						c.(727-729)ATC>ATT		purinergic receptor P2X3							77.0	66.0	70.0					11																	57118259		2201	4296	6497	SO:0001819	synonymous_variant	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57118259C>T	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.729C>T	11.37:g.57118259C>T							p.I243I	NM_002559	NP_002550	P56373	P2RX3_HUMAN			8	805	+			243			Extracellular (Potential).		Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	c.729C>T	CCDS7953.1																																																																																				0.622	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		4	26	0	0	0	0	4	26				
OR4D11	219986	broad.mit.edu	37	11	59271774	59271774	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:59271774C>T	ENST00000313253.1	+	1	726	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTTGCACCTCCCACATCACTG	0.547																																						uc001noa.1		NA																	0				ovary(1)|skin(1)	2						c.(724-726)TCC>TCT		olfactory receptor, family 4, subfamily D,							231.0	211.0	218.0					11																	59271774		2201	4295	6496	SO:0001819	synonymous_variant	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271774C>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.726C>T	11.37:g.59271774C>T							p.S242S	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	726	+			242			Helical; Name=6; (Potential).			Silent	SNP	ENST00000313253.1	37	c.726C>T	CCDS31563.1																																																																																				0.547	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		28	160	0	0	0	0	28	160				
MS4A5	64232	broad.mit.edu	37	11	60215208	60215208	+	Silent	SNP	T	T	C	rs199735850		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:60215208T>C	ENST00000300190.2	+	5	665	c.579T>C	c.(577-579)gaT>gaC	p.D193D		NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	193						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						ACTCAGAGGATTGTGATTGTG	0.353													T|||	1	0.000199681	0.0	0.0	5008	,	,		22067	0.0		0.001	False		,,,				2504	0.0					uc001npo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(577-579)GAT>GAC		membrane-spanning 4-domains, subfamily A, member		T		0,4406		0,0,2203	174.0	175.0	175.0		579	-8.4	0.0	11		175	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MS4A5	NM_023945.2		0,2,6501	CC,CT,TT		0.0233,0.0,0.0154		193/201	60215208	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64232					integral to membrane	receptor activity	g.chr11:60215208T>C	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.579T>C	11.37:g.60215208T>C							p.D193D	NM_023945	NP_076434	Q9H3V2	MS4A5_HUMAN			5	665	+			193			Cytoplasmic (Potential).		Q9BZH1	Silent	SNP	ENST00000300190.2	37	c.579T>C	CCDS7987.1																																																																																				0.353	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			16	88	0	0	0	0	16	88				
SART1	9092	broad.mit.edu	37	11	65744017	65744017	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:65744017G>A	ENST00000312397.5	+	13	1816	c.1724G>A	c.(1723-1725)cGc>cAc	p.R575H		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	575					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCTGGCAATCGCGAGGAGCAG	0.687																																						uc001ogl.2		NA																	0				ovary(1)	1						c.(1723-1725)CGC>CAC		squamous cell carcinoma antigen recognized by T							35.0	35.0	35.0					11																	65744017		2201	4296	6497	SO:0001583	missense	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65744017G>A	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1724G>A	11.37:g.65744017G>A	ENSP00000310448:p.Arg575His						p.R575H	NM_005146	NP_005137	O43290	SNUT1_HUMAN			13	1816	+			575					A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	c.1724G>A	CCDS31611.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845741	0.71603	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.24538	1.85	4.88	3.02	0.34903	.	0.061993	0.64402	D	0.000010	T	0.35624	0.0938	M	0.81942	2.565	0.49687	D	0.999812	P	0.46656	0.882	P	0.46659	0.523	T	0.23511	-1.0186	10	0.87932	D	0	-16.0372	8.9805	0.35961	0.1811:0.0:0.8189:0.0	.	575	O43290	SNUT1_HUMAN	H	575;417	ENSP00000310448:R575H	ENSP00000310448:R575H	R	+	2	0	SART1	65500593	1.000000	0.71417	0.968000	0.41197	0.537000	0.34900	5.412000	0.66392	0.671000	0.31185	0.491000	0.48974	CGC		0.687	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			8	39	0	0	0	0	8	39				
SPTBN2	6712	broad.mit.edu	37	11	66454925	66454925	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:66454925T>C	ENST00000533211.1	-	35	7026	c.6695A>G	c.(6694-6696)gAg>gGg	p.E2232G	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E2232G|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E2232G			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2232	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCGAAGGCCTCCATCTCCTG	0.642																																						uc001ojd.2		NA																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(6694-6696)GAG>GGG		spectrin, beta, non-erythrocytic 2							65.0	68.0	67.0					11																	66454925		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66454925T>C	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6695A>G	11.37:g.66454925T>C	ENSP00000432568:p.Glu2232Gly					SPTBN2_uc001ojc.1_Missense_Mutation_p.R93G	p.E2232G	NM_006946	NP_008877	O15020	SPTN2_HUMAN			34	6767	-			2232			PH.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.6695A>G	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.779567	0.90195	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.33438	1.41;1.41;1.41	4.59	4.59	0.56863	Pleckstrin homology-type (1);Pleckstrin homology domain, spectrin-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	T	0.58793	0.2147	M	0.86343	2.81	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.67197	-0.5731	10	0.87932	D	0	.	13.1198	0.59318	0.0:0.0:0.0:1.0	.	2232	O15020	SPTN2_HUMAN	G	2232;2232;2232;776	ENSP00000432568:E2232G;ENSP00000311489:E2232G;ENSP00000433593:E2232G	ENSP00000311489:E2232G	E	-	2	0	SPTBN2	66211501	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.971000	0.70440	1.939000	0.56221	0.528000	0.53228	GAG		0.642	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		3	93	0	0	0	0	3	93				
UVRAG	7405	broad.mit.edu	37	11	75851885	75851885	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:75851885G>A	ENST00000356136.3	+	15	1769	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	UVRAG_ENST00000538870.1_Missense_Mutation_p.E66K|UVRAG_ENST00000531818.1_Missense_Mutation_p.E138K|UVRAG_ENST00000539288.1_Missense_Mutation_p.E138K|UVRAG_ENST00000532130.1_Missense_Mutation_p.E138K|UVRAG_ENST00000533454.1_Missense_Mutation_p.E138K|UVRAG_ENST00000528420.1_Missense_Mutation_p.E409K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	510					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GGCCAGCTCTGAGAATGAGAG	0.527																																						uc001oxc.2		NA																	0				skin(4)|lung(2)	6						c.(1528-1530)GAG>AAG		UV radiation resistance associated							93.0	89.0	90.0					11																	75851885		2200	4292	6492	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75851885G>A	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1528G>A	11.37:g.75851885G>A	ENSP00000348455:p.Glu510Lys					UVRAG_uc010rrw.1_Missense_Mutation_p.E409K|UVRAG_uc001oxd.2_Missense_Mutation_p.E138K|UVRAG_uc010rrx.1_Missense_Mutation_p.E138K|UVRAG_uc010rry.1_Missense_Mutation_p.E66K	p.E510K	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			15	1769	+			510					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.1528G>A	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076122	0.76415	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.53857	0.6	5.3	5.3	0.74995	.	0.203946	0.49916	D	0.000123	T	0.47875	0.1469	N	0.24115	0.695	0.48511	D	0.999662	D;P	0.56746	0.977;0.483	P;B	0.50659	0.647;0.084	T	0.28396	-1.0045	10	0.11794	T	0.64	-12.673	18.3018	0.90165	0.0:0.0:1.0:0.0	.	66;510	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	K	510;409;138;138;138;138;66	ENSP00000348455:E510K	ENSP00000348455:E510K	E	+	1	0	UVRAG	75529533	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.378000	0.97191	2.648000	0.89879	0.655000	0.94253	GAG		0.527	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		7	104	0	0	0	0	7	104				
AQP11	282679	broad.mit.edu	37	11	77301379	77301379	+	Silent	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:77301379C>A	ENST00000313578.3	+	1	700	c.342C>A	c.(340-342)ccC>ccA	p.P114P	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	114					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GCATGTCCCCCGAGACGGGTG	0.607																																						uc001oyj.2		NA																	0					0						c.(340-342)CCC>CCA		aquaporin 11							83.0	68.0	73.0					11																	77301379		2200	4292	6492	SO:0001819	synonymous_variant	282679					cell surface|integral to membrane	transporter activity	g.chr11:77301379C>A	AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"""Ion channels / Aquaporins"""	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.342C>A	11.37:g.77301379C>A						AQP11_uc009yuu.2_Intron	p.P114P	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)		1	700	+	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		114						Silent	SNP	ENST00000313578.3	37	c.342C>A	CCDS8251.1																																																																																				0.607	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382582.1	NM_173039		15	83	1	0	1.45e-14	2.89e-14	15	83				
DLG2	1740	broad.mit.edu	37	11	83673932	83673932	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:83673932T>G	ENST00000532653.1	-	9	1323	c.1021A>C	c.(1021-1023)Acc>Ccc	p.T341P	DLG2_ENST00000398309.2_Missense_Mutation_p.T341P|DLG2_ENST00000376104.2_Missense_Mutation_p.T446P|DLG2_ENST00000330014.6_Missense_Mutation_p.T280P|DLG2_ENST00000280241.8_Missense_Mutation_p.T380P|DLG2_ENST00000524982.1_Missense_Mutation_p.T341P|DLG2_ENST00000418306.2_Missense_Mutation_p.T290P|DLG2_ENST00000543673.1_Missense_Mutation_p.T446P|DLG2_ENST00000537455.1_Missense_Mutation_p.T95P|DLG2_ENST00000398301.2_Missense_Mutation_p.T380P|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000531015.1_Missense_Mutation_p.T308P			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTGACCTGGTGTAGTCGTCG	0.418																																						uc001paj.2		NA																	0				ovary(3)|pancreas(2)|skin(1)	6						c.(1021-1023)ACC>CCC		chapsyn-110 isoform 2							180.0	170.0	173.0					11																	83673932		1933	4145	6078	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83673932T>G	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1021A>C	11.37:g.83673932T>G	ENSP00000435849:p.Thr341Pro					DLG2_uc001pai.2_Missense_Mutation_p.T290P|DLG2_uc010rsy.1_Missense_Mutation_p.T308P|DLG2_uc010rsz.1_Missense_Mutation_p.T341P|DLG2_uc010rta.1_Missense_Mutation_p.T341P|DLG2_uc001pak.2_Missense_Mutation_p.T446P|DLG2_uc010rtb.1_Missense_Mutation_p.T308P|DLG2_uc001pal.1_Missense_Mutation_p.T341P|DLG2_uc001pam.1_Missense_Mutation_p.T380P	p.T341P	NM_001364	NP_001355	Q15700	DLG2_HUMAN			9	1324	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	341					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.1021A>C		.	.	.	.	.	.	.	.	.	.	T	16.15	3.041601	0.55003	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T;T	0.21734	2.66;2.65;2.37;2.65;2.51;2.56;2.27;2.66;2.61;2.46;1.99	5.55	3.16	0.36331	PDZ-associated domain of NMDA receptors (1);	0.239222	0.32401	N	0.006150	T	0.27063	0.0663	L	0.28504	0.86	0.80722	D	1	D;P;D;P;B;D;B;P	0.64830	0.994;0.856;0.971;0.523;0.004;0.986;0.005;0.927	D;B;P;B;B;P;B;P	0.64595	0.927;0.303;0.811;0.303;0.071;0.744;0.033;0.868	T	0.01397	-1.1365	9	.	.	.	.	8.2138	0.31499	0.0:0.0698:0.1346:0.7956	.	308;341;341;280;380;446;341;290	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	P	341;446;290;446;380;280;95;341;341;446;308;380	ENSP00000381355:T341P;ENSP00000365272:T446P;ENSP00000402275:T290P;ENSP00000441994:T446P;ENSP00000280241:T380P;ENSP00000381353:T280P;ENSP00000443248:T95P;ENSP00000432894:T341P;ENSP00000435849:T341P;ENSP00000433848:T308P;ENSP00000381346:T380P	.	T	-	1	0	DLG2	83351580	1.000000	0.71417	0.978000	0.43139	0.980000	0.70556	3.848000	0.55903	0.369000	0.24510	0.533000	0.62120	ACC		0.418	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		4	218	0	0	0	0	4	218				
KBTBD3	143879	broad.mit.edu	37	11	105924580	105924580	+	Missense_Mutation	SNP	T	T	G	rs372335652		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:105924580T>G	ENST00000526793.1	-	3	995	c.836A>C	c.(835-837)cAa>cCa	p.Q279P	KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q200P|KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q279P	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	275										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ACCAGAACCTTGCACACACTT	0.378																																						uc001pja.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(835-837)CAA>CCA		BTB and kelch domain containing 3							126.0	112.0	117.0					11																	105924580		2200	4298	6498	SO:0001583	missense	143879							g.chr11:105924580T>G	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.836A>C	11.37:g.105924580T>G	ENSP00000436262:p.Gln279Pro					KBTBD3_uc001pjb.2_Missense_Mutation_p.Q279P|KBTBD3_uc009yxm.2_Missense_Mutation_p.Q200P	p.Q279P	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	4	1476	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	275					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.836A>C	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293686	0.23564	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.66995	-0.11;-0.24;-0.24	5.62	4.5	0.54988	.	0.398772	0.30036	N	0.010568	T	0.45597	0.1350	N	0.14661	0.345	0.37283	D	0.907939	P;P	0.38335	0.557;0.627	B;B	0.32022	0.122;0.139	T	0.58741	-0.7583	10	0.59425	D	0.04	.	10.9896	0.47541	0.0:0.0727:0.0:0.9273	.	279;275	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	P	200;279;279	ENSP00000431910:Q200P;ENSP00000436262:Q279P;ENSP00000432163:Q279P	ENSP00000436262:Q279P	Q	-	2	0	KBTBD3	105429790	0.998000	0.40836	1.000000	0.80357	0.888000	0.51559	2.680000	0.46918	2.143000	0.66587	0.477000	0.44152	CAA		0.378	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		4	54	0	0	0	0	4	54				
HSPA8	3312	broad.mit.edu	37	11	122930370	122930370	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:122930370G>A	ENST00000532636.1	-	5	1050	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	HSPA8_ENST00000526110.1_Missense_Mutation_p.R292C|HSPA8_ENST00000534624.1_Missense_Mutation_p.R311C|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_Missense_Mutation_p.R311C|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.R75C|HSPA8_ENST00000453788.2_Missense_Mutation_p.R311C|HSPA8_ENST00000533540.1_Missense_Mutation_p.R165C|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	311	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGGTGCCACGGAACAGGTCA	0.488																																					Colon(21;486 594 5900 6733 14272)	uc001pyo.2		NA																	0				central_nervous_system(7)|lung(1)	8						c.(931-933)CGT>TGT		heat shock 70kDa protein 8 isoform 1							49.0	51.0	50.0					11																	122930370		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930370G>A	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.931C>T	11.37:g.122930370G>A	ENSP00000437125:p.Arg311Cys					HSPA8_uc009zbc.2_Missense_Mutation_p.R75C|HSPA8_uc001pyp.2_Missense_Mutation_p.R311C|HSPA8_uc010rzu.1_Missense_Mutation_p.R234C|HSPA8_uc009zbd.1_Missense_Mutation_p.R311C	p.R311C	NM_006597	NP_006588	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	5	1009	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	311			Interaction with BAG1.		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.931C>T	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044085	0.55110	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.01076	5.37;5.37;5.37;5.37;5.37;5.37;5.37;5.37	4.65	4.65	0.58169	.	0.058720	0.64402	D	0.000005	T	0.06917	0.0176	H	0.96833	3.89	0.80722	D	1	B;D;D;B	0.67145	0.307;0.996;0.995;0.307	B;P;P;B	0.49301	0.06;0.606;0.471;0.06	T	0.01337	-1.1381	10	0.87932	D	0	-11.6125	12.9906	0.58616	0.0:0.0:0.8383:0.1617	.	311;311;311;311	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	C	311;165;311;311;311;75;292;251	ENSP00000437125:R311C;ENSP00000437189:R165C;ENSP00000432083:R311C;ENSP00000404372:R311C;ENSP00000227378:R311C;ENSP00000433316:R75C;ENSP00000433584:R292C;ENSP00000432884:R251C	ENSP00000227378:R311C	R	-	1	0	HSPA8	122435580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.484000	0.60271	2.308000	0.77769	0.556000	0.70494	CGT		0.488	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			17	39	0	0	0	0	17	39				
OR8B2	26595	broad.mit.edu	37	11	124252330	124252330	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:124252330G>A	ENST00000375013.2	-	1	928	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATTTTAATCAGAGCTTTCCTC	0.338																																						uc010sai.1		NA																	0					0						c.(910-912)CTG>TTG		olfactory receptor, family 8, subfamily B,							58.0	61.0	60.0					11																	124252330		2201	4298	6499	SO:0001819	synonymous_variant	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252330G>A	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.910C>T	11.37:g.124252330G>A							p.L304L	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	910	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	304			Cytoplasmic (Potential).		Q8NGH2	Silent	SNP	ENST00000375013.2	37	c.910C>T	CCDS31708.1																																																																																				0.338	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		16	37	0	0	0	0	16	37				
STT3A	3703	broad.mit.edu	37	11	125484217	125484217	+	Splice_Site	SNP	A	A	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:125484217A>G	ENST00000529196.1	+	16	1877		c.e16-1		STT3A_ENST00000392708.4_Splice_Site|STT3A_ENST00000531491.1_Splice_Site			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)						cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTGTTTTTCCAGGCAATGGCG	0.453																																						uc001qcd.2		NA																	0					0						c.e15-2		integral membrane protein 1							244.0	245.0	244.0					11																	125484217		2201	4299	6500	SO:0001630	splice_region_variant	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125484217A>G	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1672-1A>G	11.37:g.125484217A>G						STT3A_uc001qce.2_Splice_Site_p.A558_splice|STT3A_uc010sbg.1_Splice_Site_p.A466_splice|STT3A_uc009zbn.2_Splice_Site_p.A280_splice	p.A558_splice	NM_152713	NP_689926	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	15	1782	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)						B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Splice_Site	SNP	ENST00000529196.1	37	c.1672_splice	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.348317	0.82132	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0971	0.81132	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STT3A	124989427	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	9.339000	0.96797	2.279000	0.76181	0.533000	0.62120	.		0.453	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713	Intron	19	222	0	0	0	0	19	222				
ADAMTS15	170689	broad.mit.edu	37	11	130318901	130318901	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr11:130318901C>T	ENST00000299164.2	+	1	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	11						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F11F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCCTGGCTTTCGCCGGGCGAA	0.711																																						uc010scd.1		NA																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(31-33)TTC>TTT		a disintegrin-like and metalloprotease							17.0	17.0	17.0					11																	130318901		2200	4295	6495	SO:0001819	synonymous_variant	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130318901C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.33C>T	11.37:g.130318901C>T							p.F11F	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	1	33	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	11					Q32MI6	Silent	SNP	ENST00000299164.2	37	c.33C>T	CCDS8488.1																																																																																				0.711	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		4	29	0	0	0	0	4	29				
CLEC4E	26253	broad.mit.edu	37	12	8691819	8691819	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:8691819C>A	ENST00000299663.3	-	3	379	c.214G>T	c.(214-216)Gga>Tga	p.G72*	CLEC4E_ENST00000446457.2_Nonsense_Mutation_p.G72*|CLEC4E_ENST00000545274.1_Nonsense_Mutation_p.G72*	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	72					immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					ATACCTGATCCATAATTGTAG	0.383																																						uc001quo.1		NA																	0				central_nervous_system(1)	1						c.(214-216)GGA>TGA		C-type lectin domain family 4, member E							116.0	120.0	118.0					12																	8691819		2203	4300	6503	SO:0001587	stop_gained	26253					integral to membrane	sugar binding	g.chr12:8691819C>A	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.214G>T	12.37:g.8691819C>A	ENSP00000299663:p.Gly72*						p.G72*	NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN			3	379	-	Lung SC(5;0.184)		72			Extracellular (Potential).		B2R6Q6	Nonsense_Mutation	SNP	ENST00000299663.3	37	c.214G>T	CCDS8594.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.51|17.51	3.407837|3.407837	0.62399|0.62399	.|.	.|.	ENSG00000166523|ENSG00000166523	ENST00000299663;ENST00000446457;ENST00000545274|ENST00000537698	.|.	.|.	.|.	3.77|3.77	2.89|2.89	0.33648|0.33648	.|.	0.938854|.	0.08852|.	N|.	0.884266|.	.|T	.|0.42899	.|0.1223	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51710	.|-0.8671	.|3	0.26408|.	T|.	0.33|.	.|.	7.2024|7.2024	0.25889|0.25889	0.0:0.8796:0.0:0.1204|0.0:0.8796:0.0:0.1204	.|.	.|.	.|.	.|.	X|I	72|11	.|.	ENSP00000299663:G72X|.	G|M	-|-	1|3	0|0	CLEC4E|CLEC4E	8583086|8583086	0.000000|0.000000	0.05858|0.05858	0.020000|0.020000	0.16555|0.16555	0.098000|0.098000	0.18820|0.18820	0.050000|0.050000	0.14120|0.14120	1.198000|1.198000	0.43158|0.43158	0.655000|0.655000	0.94253|0.94253	GGA|ATG		0.383	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358		16	108	1	0	2.23e-06	3.97e-06	16	108				
KLRF1	51348	broad.mit.edu	37	12	9984956	9984956	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:9984956T>C	ENST00000279544.3	+	2	194	c.130T>C	c.(130-132)Tct>Cct	p.S44P	KLRF1_ENST00000324214.4_Missense_Mutation_p.S44P|KLRF1_ENST00000354855.3_Missense_Mutation_p.S44P|KLRF1_ENST00000537723.1_Missense_Mutation_p.S44P	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	44					cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						ACTGGGAATATCTGGAACCGT	0.323																																						uc010sgw.1		NA																	0				large_intestine(1)	1						c.(130-132)TCT>CCT		killer cell lectin-like receptor subfamily F,							147.0	140.0	142.0					12																	9984956		1817	4082	5899	SO:0001583	missense	51348				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding	g.chr12:9984956T>C	AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.130T>C	12.37:g.9984956T>C	ENSP00000279544:p.Ser44Pro					KLRF1_uc009zgw.2_Missense_Mutation_p.S44P|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_RNA|KLRF1_uc009zgz.2_Missense_Mutation_p.S44P|KLRF1_uc009zha.2_RNA	p.S44P	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN			2	194	+			44			Helical; Signal-anchor for type II membrane protein; (Potential).		Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Missense_Mutation	SNP	ENST00000279544.3	37	c.130T>C	CCDS41750.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.782119	0.31502	.	.	ENSG00000150045	ENST00000354855;ENST00000324214;ENST00000279544;ENST00000537723	T;T;T	0.56611	4.66;5.03;0.45	3.04	3.04	0.35103	.	0.000000	0.33180	N	0.005190	T	0.53899	0.1825	L	0.27053	0.805	0.25914	N	0.983198	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.83275	0.99;0.996;0.994	T	0.35351	-0.9792	9	.	.	.	.	7.89	0.29672	0.0:0.0:0.0:1.0	.	44;44;44	Q9NZS2;Q4KN30;Q9NZS2-2	KLRF1_HUMAN;.;.	P	44	ENSP00000322487:S44P;ENSP00000279544:S44P;ENSP00000443054:S44P	.	S	+	1	0	KLRF1	9876223	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	1.875000	0.39578	1.651000	0.50673	0.528000	0.53228	TCT		0.323	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399535.1	NM_016523		9	28	0	0	0	0	9	28				
ETV6	2120	broad.mit.edu	37	12	12022820	12022820	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:12022820G>T	ENST00000396373.4	+	5	1200	c.926G>T	c.(925-927)cGg>cTg	p.R309L		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	309					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTCTCTCATCGGGAAGACCTG	0.577			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	uc001qzz.2		NA		Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5		congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL	ETV6/NTRK3(234)|ETV6/JAK2(11)	0				soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250						c.(925-927)CGG>CTG		ets variant 6							103.0	105.0	104.0					12																	12022820		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12022820G>T	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.926G>T	12.37:g.12022820G>T	ENSP00000379658:p.Arg309Leu					ETV6_uc001raa.1_Missense_Mutation_p.R102L	p.R309L	NM_001987	NP_001978	P41212	ETV6_HUMAN			5	1200	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	309					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.926G>T	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409048	0.62399	.	.	ENSG00000139083	ENST00000396373	T	0.04406	3.63	5.76	5.76	0.90799	.	0.121610	0.64402	D	0.000019	T	0.19208	0.0461	L	0.57536	1.79	0.58432	D	0.999998	D;B	0.89917	1.0;0.028	D;B	0.87578	0.998;0.009	T	0.00649	-1.1627	10	0.27082	T	0.32	.	19.571	0.95419	0.0:0.0:1.0:0.0	.	13;309	Q0ZHH2;P41212	.;ETV6_HUMAN	L	309	ENSP00000379658:R309L	ENSP00000379658:R309L	R	+	2	0	ETV6	11914087	1.000000	0.71417	0.993000	0.49108	0.898000	0.52572	4.545000	0.60698	2.713000	0.92767	0.655000	0.94253	CGG		0.577	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		23	98	1	0	1.55e-16	3.11e-16	23	98				
GRIN2B	2904	broad.mit.edu	37	12	14018815	14018815	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:14018815G>T	ENST00000609686.1	-	2	537	c.328C>A	c.(328-330)Cag>Aag	p.Q110K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	110					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCGAGGATCTGGGCGATGGCT	0.542																																						uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(328-330)CAG>AAG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						140.0	137.0	138.0					12																	14018815		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14018815G>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.328C>A	12.37:g.14018815G>T	ENSP00000477455:p.Gln110Lys						p.Q110K	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			2	507	-			110			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.328C>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929837	0.92389	.	.	ENSG00000150086	ENST00000279593	D	0.85484	-1.99	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.93948	0.7229	10	0.66056	D	0.02	.	19.1153	0.93336	0.0:0.0:1.0:0.0	.	110	Q13224	NMDE2_HUMAN	K	110	ENSP00000279593:Q110K	ENSP00000279593:Q110K	Q	-	1	0	GRIN2B	13910082	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.863000	0.99569	2.496000	0.84212	0.563000	0.77884	CAG		0.542	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			23	86	1	0	5.26e-13	1.04e-12	23	86				
C12orf40	283461	broad.mit.edu	37	12	40076630	40076630	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:40076630C>A	ENST00000324616.5	+	8	1058	c.904C>A	c.(904-906)Caa>Aaa	p.Q302K	C12orf40_ENST00000398716.1_Missense_Mutation_p.Q225K|C12orf40_ENST00000405531.3_Missense_Mutation_p.Q302K	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	302										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TTTTGTTAGTCAAAATATGAT	0.323																																						uc001rmc.2		NA																	0				ovary(6)	6						c.(904-906)CAA>AAA		hypothetical protein LOC283461							107.0	103.0	104.0					12																	40076630		1844	4082	5926	SO:0001583	missense	283461							g.chr12:40076630C>A	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.904C>A	12.37:g.40076630C>A	ENSP00000317671:p.Gln302Lys					C12orf40_uc009zjv.1_RNA	p.Q302K	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			8	1071	+			302					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.904C>A	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	C	7.545	0.661451	0.14645	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.39056	1.11;1.1	5.26	2.19	0.27852	.	0.782496	0.11441	N	0.563748	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.18561	0.022	T	0.29366	-1.0014	10	0.07990	T	0.79	.	3.7087	0.08411	0.1356:0.4012:0.3658:0.0973	.	302	Q86WS4	CL040_HUMAN	K	302;225;302	ENSP00000383897:Q302K;ENSP00000317671:Q302K	ENSP00000317671:Q302K	Q	+	1	0	C12orf40	38362897	0.005000	0.15991	0.167000	0.22817	0.709000	0.40893	-0.017000	0.12590	0.838000	0.34948	0.591000	0.81541	CAA		0.323	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		18	53	1	0	2e-07	3.64e-07	18	53				
LMBR1L	55716	broad.mit.edu	37	12	49495950	49495950	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:49495950G>A	ENST00000267102.8	-	11	1225	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	LMBR1L_ENST00000547382.1_Missense_Mutation_p.R295W|LMBR1L_ENST00000553204.1_5'Flank|LMBR1L_ENST00000395141.4_Missense_Mutation_p.R290W	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	295					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCAGGTTCCGTTGCCAGGCT	0.597																																						uc001rth.3		NA																	0				pancreas(1)	1						c.(883-885)CGG>TGG		lipocalin-interacting membrane receptor							102.0	93.0	96.0					12																	49495950		2203	4300	6503	SO:0001583	missense	55716				endocytosis	integral to membrane|plasma membrane	receptor activity	g.chr12:49495950G>A	AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.883C>T	12.37:g.49495950G>A	ENSP00000267102:p.Arg295Trp					LMBR1L_uc001rtg.3_Missense_Mutation_p.R290W|LMBR1L_uc001rti.3_Missense_Mutation_p.R295W|LMBR1L_uc001rtj.1_Missense_Mutation_p.R139W|LMBR1L_uc009zld.1_Missense_Mutation_p.R168W	p.R295W	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN			11	1225	-			295			Cytoplasmic (Potential).		Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	ENST00000267102.8	37	c.883C>T	CCDS8780.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920183	0.92249	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000395141;ENST00000552449	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	6.08	5.16	0.70880	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.61763	0.2373	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.999;0.996;0.998;0.999	T	0.64537	-0.6384	10	0.87932	D	0	.	15.7303	0.77794	0.0:0.0:0.8628:0.1372	.	293;295;295;295;290	Q6UX01-2;Q6UX01-5;Q6UX01-3;Q6UX01;Q6UX01-4	.;.;.;LMBRL_HUMAN;.	W	295;295;290;4	ENSP00000267102:R295W;ENSP00000447329:R295W;ENSP00000378573:R290W;ENSP00000450362:R4W	ENSP00000267102:R295W	R	-	1	2	LMBR1L	47782217	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.601000	0.61090	2.894000	0.99253	0.591000	0.81541	CGG		0.597	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113		11	63	0	0	0	0	11	63				
DGKA	1606	broad.mit.edu	37	12	56332340	56332340	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:56332340G>C	ENST00000331886.5	+	6	849	c.395G>C	c.(394-396)aGc>aCc	p.S132T	DGKA_ENST00000551156.1_Missense_Mutation_p.S132T|DGKA_ENST00000394147.1_Missense_Mutation_p.S132T|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	132	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ATCCTGGACAGCTCAGTGAGT	0.507																																						uc001sij.2		NA																	0				ovary(3)|pancreas(1)	4						c.(394-396)AGC>ACC		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						178.0	163.0	168.0					12																	56332340		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56332340G>C	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.395G>C	12.37:g.56332340G>C	ENSP00000328405:p.Ser132Thr					DGKA_uc009zoc.1_Missense_Mutation_p.S132T|DGKA_uc001sih.1_Intron|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Missense_Mutation_p.S51T|DGKA_uc009zoe.1_Missense_Mutation_p.S132T|DGKA_uc001sik.2_Missense_Mutation_p.S132T|DGKA_uc001sil.2_Missense_Mutation_p.S132T|DGKA_uc001sim.2_Missense_Mutation_p.S132T|DGKA_uc001sin.2_Missense_Mutation_p.S132T|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_5'UTR	p.S132T	NM_001345	NP_001336	P23743	DGKA_HUMAN			6	659	+			132			1 (Probable).|EF-hand 1.		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.395G>C	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171998	0.78452	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000549368;ENST00000394147;ENST00000551156;ENST00000556001;ENST00000551707	T;T;T;T	0.68331	1.57;-0.32;1.57;1.57	4.72	4.72	0.59763	EF-hand-like domain (1);	0.088166	0.85682	D	0.000000	T	0.74612	0.3739	L	0.40543	1.245	0.58432	D	0.999999	D;P;D;P	0.76494	0.999;0.83;0.999;0.55	D;P;D;B	0.85130	0.995;0.646;0.997;0.348	T	0.70622	-0.4821	10	0.27785	T	0.31	.	16.9773	0.86316	0.0:0.0:1.0:0.0	.	132;51;132;132	Q3ZE25;G3V4E1;B4E0C6;P23743	.;.;.;DGKA_HUMAN	T	132;51;132;132;132;132;132	ENSP00000328405:S132T;ENSP00000451743:S51T;ENSP00000377703:S132T;ENSP00000450359:S132T	ENSP00000328405:S132T	S	+	2	0	DGKA	54618607	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.195000	0.72088	2.619000	0.88677	0.561000	0.74099	AGC		0.507	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			29	122	0	0	0	0	29	122				
OS9	10956	broad.mit.edu	37	12	58090152	58090152	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:58090152T>G	ENST00000315970.7	+	5	616	c.575T>G	c.(574-576)gTt>gGt	p.V192G	OS9_ENST00000435406.2_Intron|OS9_ENST00000551035.1_Intron|OS9_ENST00000257966.8_Missense_Mutation_p.V192G|OS9_ENST00000439210.2_Missense_Mutation_p.V133G|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Intron|OS9_ENST00000552285.1_Missense_Mutation_p.V192G|OS9_ENST00000389146.6_Missense_Mutation_p.V192G|OS9_ENST00000389142.5_Missense_Mutation_p.V192G	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	192					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GAGGCCGAGGTTCGGGTGAGT	0.592																																						uc001spj.2		NA																	0				ovary(1)	1						c.(574-576)GTT>GGT		osteosarcoma amplified 9, endoplasmic reticulum							62.0	61.0	61.0					12																	58090152		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58090152T>G	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.575T>G	12.37:g.58090152T>G	ENSP00000318165:p.Val192Gly					OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.V192G|OS9_uc001spl.2_Missense_Mutation_p.V192G|OS9_uc001spm.2_Missense_Mutation_p.V192G|OS9_uc001spn.2_Missense_Mutation_p.V192G|OS9_uc010sry.1_Intron|OS9_uc010srz.1_Missense_Mutation_p.V133G	p.V192G	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		5	634	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		192					A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.575T>G	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.763782	0.89932	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000257966;ENST00000550372;ENST00000389142	T;T;T;T;T;T;T	0.05139	3.81;3.81;3.81;3.81;3.81;3.49;3.81	5.53	5.53	0.82687	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	M	0.88377	2.95	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;0.999;0.997	T	0.16660	-1.0395	10	0.87932	D	0	.	14.6229	0.68599	0.0:0.0:0.0:1.0	.	133;192;192;192;192;192	E7EW91;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;OS9_HUMAN	G	192;192;133;192;192;132;192	ENSP00000450010:V192G;ENSP00000318165:V192G;ENSP00000407360:V133G;ENSP00000373798:V192G;ENSP00000257966:V192G;ENSP00000447719:V132G;ENSP00000373794:V192G	ENSP00000257966:V192G	V	+	2	0	OS9	56376419	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.072000	0.76777	2.107000	0.64212	0.482000	0.46254	GTT		0.592	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		12	52	0	0	0	0	12	52				
EEA1	8411	broad.mit.edu	37	12	93196189	93196189	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:93196189T>C	ENST00000322349.8	-	19	2925	c.2661A>G	c.(2659-2661)atA>atG	p.I887M		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	887					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CCAAGTCTAATATAGCGGCTT	0.289																																						uc001tck.2		NA																	0				ovary(2)|skin(1)	3						c.(2659-2661)ATA>ATG		early endosome antigen 1, 162kD							50.0	54.0	53.0					12																	93196189		2200	4294	6494	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93196189T>C	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2661A>G	12.37:g.93196189T>C	ENSP00000317955:p.Ile887Met						p.I887M	NM_003566	NP_003557	Q15075	EEA1_HUMAN			19	2926	-			887			Potential.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.2661A>G	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.677137	0.29783	.	.	ENSG00000102189	ENST00000322349	T	0.64991	-0.13	5.4	0.343	0.16001	.	0.442204	0.19156	N	0.121338	T	0.32615	0.0835	N	0.14661	0.345	0.22489	N	0.999056	P	0.39216	0.664	B	0.31191	0.125	T	0.19224	-1.0312	10	0.46703	T	0.11	.	3.2257	0.06731	0.3015:0.3266:0.0:0.3719	.	887	Q15075	EEA1_HUMAN	M	887	ENSP00000317955:I887M	ENSP00000317955:I887M	I	-	3	3	EEA1	91720320	0.083000	0.21467	0.997000	0.53966	0.965000	0.64279	-0.741000	0.04855	0.030000	0.15379	-0.608000	0.04076	ATA		0.289	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		4	37	0	0	0	0	4	37				
EEA1	8411	broad.mit.edu	37	12	93219970	93219970	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:93219970C>A	ENST00000322349.8	-	13	1760	c.1496G>T	c.(1495-1497)aGc>aTc	p.S499I		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	499	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TGCCGTGGTGCTTTGCTGAAG	0.328																																						uc001tck.2		NA																	0				ovary(2)|skin(1)	3						c.(1495-1497)AGC>ATC		early endosome antigen 1, 162kD							226.0	203.0	211.0					12																	93219970		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93219970C>A	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1496G>T	12.37:g.93219970C>A	ENSP00000317955:p.Ser499Ile						p.S499I	NM_003566	NP_003557	Q15075	EEA1_HUMAN			13	1761	-			499			Gln/Glu/Lys-rich.|Potential.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.1496G>T	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164004	0.38217	.	.	ENSG00000102189	ENST00000322349	T	0.80033	-1.33	5.14	4.25	0.50352	.	0.097718	0.44688	D	0.000428	T	0.64327	0.2588	L	0.29908	0.895	0.37065	D	0.898248	P	0.38250	0.624	B	0.29077	0.098	T	0.66296	-0.5959	10	0.34782	T	0.22	.	8.3083	0.32055	0.0:0.7446:0.0:0.2554	.	499	Q15075	EEA1_HUMAN	I	499	ENSP00000317955:S499I	ENSP00000317955:S499I	S	-	2	0	EEA1	91744101	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	1.131000	0.31406	1.176000	0.42840	0.460000	0.39030	AGC		0.328	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		5	27	1	0	0.00116845	0.00195658	5	27				
NR1H4	9971	broad.mit.edu	37	12	100955661	100955661	+	Splice_Site	SNP	A	A	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:100955661A>T	ENST00000551379.1	+	8	1136		c.e8-1		NR1H4_ENST00000549996.1_Splice_Site|NR1H4_ENST00000392986.3_Splice_Site|NR1H4_ENST00000548884.1_Splice_Site|NR1H4_ENST00000188403.7_Splice_Site			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4						bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TTTCCCCCACAGGTATCTCTG	0.318																																						uc001tht.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.e8-2		nuclear receptor subfamily 1, group H, member 4							70.0	71.0	70.0					12																	100955661		2203	4298	6501	SO:0001630	splice_region_variant	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100955661A>T	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1109-1A>T	12.37:g.100955661A>T						NR1H4_uc001thp.1_Splice_Site_p.G356_splice|NR1H4_uc001thq.1_Splice_Site_p.G360_splice|NR1H4_uc010svj.1_Splice_Site|NR1H4_uc001thr.1_Splice_Site_p.G360_splice|NR1H4_uc010svk.1_Splice_Site_p.G309_splice|NR1H4_uc001ths.1_Splice_Site_p.G366_splice	p.G370_splice	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			8	1137	+								A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Splice_Site	SNP	ENST00000551379.1	37	c.1109_splice	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868761	0.51588	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0681	0.80903	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NR1H4	99479792	1.000000	0.71417	0.926000	0.36857	0.387000	0.30353	8.459000	0.90367	2.188000	0.69820	0.528000	0.53228	.		0.318	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123	Intron	11	17	0	0	0	0	11	17				
WSCD2	9671	broad.mit.edu	37	12	108589738	108589738	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:108589738C>T	ENST00000332082.4	+	3	947	c.129C>T	c.(127-129)ccC>ccT	p.P43P	WSCD2_ENST00000547525.1_Silent_p.P43P|WSCD2_ENST00000261400.3_Silent_p.P43P|WSCD2_ENST00000549903.1_Silent_p.P43P			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	43						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGGGCCAGCCCGCTGTCTCGG	0.612																																						uc001tms.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(127-129)CCC>CCT		WSC domain containing 2							97.0	104.0	102.0					12																	108589738		2033	4185	6218	SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108589738C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.129C>T	12.37:g.108589738C>T						WSCD2_uc001tmt.2_Silent_p.P43P	p.P43P	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			2	873	+			43					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.129C>T	CCDS41828.1																																																																																				0.612	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		30	135	0	0	0	0	30	135				
FAM222A	84915	broad.mit.edu	37	12	110205834	110205834	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:110205834G>T	ENST00000538780.1	+	3	816	c.100G>T	c.(100-102)Gcc>Tcc	p.A34S	FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.A34S|FAM222A-AS1_ENST00000541723.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	34																	GGTGGCCAGCGCCATGCATTC	0.652																																						uc001tpd.1		NA																	0				ovary(1)	1						c.(100-102)GCC>TCC		hypothetical protein LOC84915							59.0	54.0	56.0					12																	110205834		2203	4300	6503	SO:0001583	missense	84915							g.chr12:110205834G>T	AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 34"""	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.100G>T	12.37:g.110205834G>T	ENSP00000443292:p.Ala34Ser					MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.A34S	p.A34S	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN			3	659	+			34					Q8NCD5|Q96SP6	Missense_Mutation	SNP	ENST00000538780.1	37	c.100G>T	CCDS9133.1	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.200897	0.01581	.	.	ENSG00000139438	ENST00000538780;ENST00000358906	T;T	0.28895	1.59;1.59	3.16	2.0	0.26442	.	0.218997	0.38326	N	0.001729	T	0.07234	0.0183	N	0.00926	-1.1	0.23669	N	0.997152	B	0.02656	0.0	B	0.04013	0.001	T	0.30001	-0.9993	10	0.10902	T	0.67	-22.2481	2.8961	0.05691	0.0:0.2398:0.2649:0.4953	.	34	Q5U5X8	CL034_HUMAN	S	34	ENSP00000443292:A34S;ENSP00000351783:A34S	ENSP00000351783:A34S	A	+	1	0	C12orf34	108690217	0.997000	0.39634	1.000000	0.80357	0.757000	0.42996	0.557000	0.23454	0.322000	0.23283	0.305000	0.20034	GCC		0.652	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403175.1	NM_032829		7	52	1	0	0.00307968	0.00507958	7	52				
ATP2A2	488	broad.mit.edu	37	12	110784230	110784230	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:110784230G>T	ENST00000539276.2	+	20	3193	c.3084G>T	c.(3082-3084)tgG>tgT	p.W1028C	ATP2A2_ENST00000395494.2_Missense_Mutation_p.W1001C|ATP2A2_ENST00000308664.6_Intron			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	1028					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGGTGATCTGGGTCTATAGCA	0.433																																						uc001tqk.3		NA																	0				ovary(3)|skin(1)	4						c.(3082-3084)TGG>TGT		ATPase, Ca++ transporting, slow twitch 2 isoform							85.0	75.0	78.0					12																	110784230		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110784230G>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.3084G>T	12.37:g.110784230G>T	ENSP00000440045:p.Trp1028Cys					ATP2A2_uc001tql.3_Intron|ATP2A2_uc010sxy.1_Missense_Mutation_p.W1001C|ATP2A2_uc001tqn.3_Missense_Mutation_p.W105C|ATP2A2_uc009zvn.2_Intron	p.W1028C	NM_170665	NP_733765	P16615	AT2A2_HUMAN			20	3647	+			1028			Cytoplasmic (By similarity).		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.3084G>T	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.99|19.99	3.928675|3.928675	0.73327|0.73327	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000548169|ENST00000395494;ENST00000539276	.|D;D	.|0.94828	.|-3.53;-3.5	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91868|0.91868	0.7426|0.7426	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D;D	.|0.57257	.|0.979;0.973	.|P;B	.|0.53313	.|0.723;0.43	D|D	0.90690|0.90690	0.4612|0.4612	5|9	.|.	.|.	.|.	.|.	20.6439|20.6439	0.99570|0.99570	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1001;1028	.|P16615-4;P16615	.|.;AT2A2_HUMAN	C|C	919|1001;1028	.|ENSP00000378872:W1001C;ENSP00000440045:W1028C	.|.	G|W	+|+	1|3	0|0	ATP2A2|ATP2A2	109268613|109268613	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.869000|9.869000	0.99810|0.99810	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.433	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		6	31	1	0	0.00198382	0.00329456	6	31				
RILPL1	353116	broad.mit.edu	37	12	124008157	124008157	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:124008157C>T	ENST00000376874.4	-	2	580	c.345G>A	c.(343-345)gaG>gaA	p.E115E		NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	115					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGTCCTGCGCCTCCCCTCGCC	0.627																																						uc001ufe.2		NA																	0					0						c.(343-345)GAG>GAA		Rab interacting lysosomal protein-like 1							46.0	51.0	49.0					12																	124008157		2131	4231	6362	SO:0001819	synonymous_variant	353116				neuroprotection	cytosol		g.chr12:124008157C>T	AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.345G>A	12.37:g.124008157C>T						RILPL1_uc010tas.1_Silent_p.E115E	p.E115E	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)	2	581	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		115			Potential.		Q66K36|Q8N1M0	Silent	SNP	ENST00000376874.4	37	c.345G>A	CCDS45006.1																																																																																				0.627	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		10	31	0	0	0	0	10	31				
SFSWAP	6433	broad.mit.edu	37	12	132281832	132281832	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr12:132281832C>G	ENST00000261674.4	+	16	2785	c.2644C>G	c.(2644-2646)Ccc>Gcc	p.P882A	SFSWAP_ENST00000541286.1_Missense_Mutation_p.P934A|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	882	Arg/Ser-rich (RS domain).				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						gcccgcggcccccgcggcccA	0.697																																						uc001uja.1		NA																	0					0						c.(2644-2646)CCC>GCC		splicing factor, arginine/serine-rich 8							24.0	33.0	30.0					12																	132281832		2185	4278	6463	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132281832C>G	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2644C>G	12.37:g.132281832C>G	ENSP00000261674:p.Pro882Ala					SFRS8_uc010tbn.1_Missense_Mutation_p.P934A	p.P882A	NM_004592	NP_004583	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	16	2784	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		882			Arg/Ser-rich (RS domain).		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.2644C>G	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	C	0.491	-0.875171	0.02550	.	.	ENSG00000061936	ENST00000261674;ENST00000541286	T;T	0.22134	1.97;2.73	0.589	0.589	0.17452	.	0.443301	0.16092	N	0.230024	T	0.08223	0.0205	N	0.08118	0	0.09310	N	1	B;B	0.20988	0.05;0.012	B;B	0.14578	0.011;0.003	T	0.38628	-0.9652	9	0.13853	T	0.58	.	.	.	.	.	934;882	F5H6B8;Q12872	.;SFSWA_HUMAN	A	882;934	ENSP00000261674:P882A;ENSP00000437738:P934A	ENSP00000261674:P882A	P	+	1	0	SFSWAP	130847785	0.004000	0.15560	0.009000	0.14445	0.172000	0.22775	0.381000	0.20619	0.621000	0.30232	0.134000	0.15878	CCC		0.697	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		15	60	0	0	0	0	15	60				
TUBA3C	7278	broad.mit.edu	37	13	19748110	19748110	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr13:19748110C>A	ENST00000400113.3	-	5	1350	c.1246G>T	c.(1246-1248)Ggg>Tgg	p.G416W		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	416					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAGAACTCCCCCTCCTCCATG	0.602																																						uc009zzj.2		NA																	0				ovary(3)|skin(2)	5						c.(1246-1248)GGG>TGG		tubulin, alpha 3c							147.0	141.0	143.0					13																	19748110		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748110C>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1246G>T	13.37:g.19748110C>A	ENSP00000382982:p.Gly416Trp						p.G416W	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1295	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	416					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1246G>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	10.88	1.476240	0.26511	.	.	ENSG00000198033	ENST00000400113	D	0.84944	-1.92	1.22	1.22	0.21188	.	0.000000	0.47852	U	0.000219	D	0.86973	0.6062	.	.	.	0.48632	D	0.99968	.	.	.	.	.	.	D	0.86326	0.1695	7	0.87932	D	0	.	8.3643	0.32378	0.0:1.0:0.0:0.0	.	.	.	.	W	416	ENSP00000382982:G416W	ENSP00000382982:G416W	G	-	1	0	TUBA3C	18646110	1.000000	0.71417	0.998000	0.56505	0.627000	0.37826	6.395000	0.73228	0.982000	0.38575	0.194000	0.17425	GGG		0.602	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		31	113	1	0	3.87e-22	7.82e-22	31	113				
ATP8A2	51761	broad.mit.edu	37	13	26154054	26154054	+	Missense_Mutation	SNP	G	G	T	rs566960742		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr13:26154054G>T	ENST00000381655.2	+	22	2118	c.1976G>T	c.(1975-1977)cGg>cTg	p.R659L	ATP8A2_ENST00000255283.8_Missense_Mutation_p.R619L|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	619					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGAGCTCAACGGTTGGAAGAG	0.438																																						uc001uqk.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(1975-1977)CGG>CTG		ATPase, aminophospholipid transporter-like,							99.0	97.0	97.0					13																	26154054		1991	4174	6165	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26154054G>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1976G>T	13.37:g.26154054G>T	ENSP00000371070:p.Arg659Leu					ATP8A2_uc010tdi.1_Missense_Mutation_p.R619L|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.R169L	p.R659L	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	22	2118	+		Breast(139;0.0201)|Lung SC(185;0.0225)	619			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.1976G>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055980	0.55325	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.79845	-1.31;-1.31	5.94	4.12	0.48240	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.230191	0.41712	D	0.000836	T	0.61185	0.2327	N	0.11927	0.2	0.40965	D	0.984655	B;B;B	0.10296	0.001;0.002;0.003	B;B;B	0.19666	0.012;0.007;0.026	T	0.59584	-0.7427	10	0.49607	T	0.09	.	4.4323	0.11533	0.1985:0.0:0.6005:0.201	.	619;439;619	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	L	659;619;439	ENSP00000371070:R659L;ENSP00000255283:R619L	ENSP00000255283:R619L	R	+	2	0	ATP8A2	25052054	1.000000	0.71417	0.305000	0.25099	0.983000	0.72400	3.878000	0.56130	2.816000	0.96949	0.563000	0.77884	CGG		0.438	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		13	28	1	0	2.62e-11	5.05e-11	13	28				
FLT3	2322	broad.mit.edu	37	13	28589793	28589793	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr13:28589793C>A	ENST00000241453.7	-	21	2668	c.2587G>T	c.(2587-2589)Ggc>Tgc	p.G863C	FLT3_ENST00000537084.1_Missense_Mutation_p.G822C|FLT3_ENST00000380982.4_Missense_Mutation_p.G866C|FLT3_ENST00000469894.1_5'Flank	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	863	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGTAGATGCCTTCAAACAGG	0.483			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2		NA		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		0				haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(2587-2589)GGC>TGC		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						100.0	98.0	99.0					13																	28589793		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28589793C>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2587G>T	13.37:g.28589793C>A	ENSP00000241453:p.Gly863Cys					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.G822C	p.G863C	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	21	2669	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	863			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2587G>T	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593214	0.46214	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.83163	-1.69;-1.69;-1.69	5.74	5.74	0.90152	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.88687	0.6504	L	0.46819	1.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.85330	0.1089	10	0.29301	T	0.29	.	19.8931	0.96937	0.0:1.0:0.0:0.0	.	822;863	P36888-2;P36888	.;FLT3_HUMAN	C	863;866;822	ENSP00000241453:G863C;ENSP00000370369:G866C;ENSP00000438139:G822C	ENSP00000241453:G863C	G	-	1	0	FLT3	27487793	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	2.788000	0.47806	2.873000	0.98535	0.563000	0.77884	GGC		0.483	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			18	50	1	0	1.02e-10	1.94e-10	18	50				
FREM2	341640	broad.mit.edu	37	13	39425083	39425083	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr13:39425083G>C	ENST00000280481.7	+	10	6796	c.6580G>C	c.(6580-6582)Gag>Cag	p.E2194Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2194	Calx-beta 4.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTTCCAGGTGAGACAGAAAA	0.478																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(6580-6582)GAG>CAG		FRAS1-related extracellular matrix protein 2							109.0	104.0	106.0					13																	39425083		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39425083G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6580G>C	13.37:g.39425083G>C	ENSP00000280481:p.Glu2194Gln					FREM2_uc001uww.2_Missense_Mutation_p.E280Q	p.E2194Q	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	10	6889	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2194			Extracellular (Potential).|Calx-beta 4.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.6580G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546790	0.45383	.	.	ENSG00000150893	ENST00000280481	T	0.32515	1.45	5.8	5.8	0.92144	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	M	0.79475	2.455	0.80722	D	1	D;P	0.76494	0.999;0.776	D;B	0.67382	0.951;0.406	T	0.50600	-0.8809	10	0.30854	T	0.27	.	19.0387	0.92989	0.0:0.0:1.0:0.0	.	2194;2194	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	Q	2194	ENSP00000280481:E2194Q	ENSP00000280481:E2194Q	E	+	1	0	FREM2	38323083	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	9.457000	0.97630	2.749000	0.94314	0.650000	0.86243	GAG		0.478	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		11	49	0	0	0	0	11	49				
LHFP	10186	broad.mit.edu	37	13	39952599	39952599	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr13:39952599C>G	ENST00000379589.3	-	3	912	c.450G>C	c.(448-450)caG>caC	p.Q150H		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	150						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGCCACAAGTCTGCCGGACTT	0.493			T	HMGA2	lipoma																																	uc001uxf.2		NA		Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	0				soft_tissue(2)|lung(1)|breast(1)	4						c.(448-450)CAG>CAC		lipoma HMGIC fusion partner precursor							78.0	71.0	73.0					13																	39952599		2203	4300	6503	SO:0001583	missense	10186					integral to membrane	DNA binding	g.chr13:39952599C>G	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.450G>C	13.37:g.39952599C>G	ENSP00000368908:p.Gln150His						p.Q150H	NM_005780	NP_005771	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	3	961	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	150					B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	ENST00000379589.3	37	c.450G>C	CCDS9369.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229103	0.79688	.	.	ENSG00000183722	ENST00000379589	T	0.72725	-0.68	5.76	4.92	0.64577	.	0.000000	0.64402	D	0.000005	D	0.83166	0.5195	M	0.80616	2.505	0.45318	D	0.998319	D	0.76494	0.999	D	0.74023	0.982	D	0.84332	0.0522	9	.	.	.	.	12.5124	0.56013	0.0:0.9194:0.0:0.0806	.	150	Q9Y693	LHFP_HUMAN	H	150	ENSP00000368908:Q150H	.	Q	-	3	2	LHFP	38850599	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.257000	0.51500	1.431000	0.47355	0.555000	0.69702	CAG		0.493	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		16	51	0	0	0	0	16	51				
NALCN	259232	broad.mit.edu	37	13	101747987	101747987	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr13:101747987C>G	ENST00000251127.6	-	28	3288	c.3207G>C	c.(3205-3207)aaG>aaC	p.K1069N		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1069					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATTTAAGTTCTTTGACACAC	0.358																																						uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(3205-3207)AAG>AAC		voltage gated channel like 1							75.0	80.0	79.0					13																	101747987		2203	4299	6502	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101747987C>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3207G>C	13.37:g.101747987C>G	ENSP00000251127:p.Lys1069Asn						p.K1069N	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			28	3396	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1069			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3207G>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623906	0.66901	.	.	ENSG00000102452	ENST00000251127	D	0.97870	-4.58	5.01	2.98	0.34508	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96059	0.8716	L	0.49126	1.545	0.80722	D	1	P	0.48350	0.909	P	0.52856	0.711	D	0.92866	0.6310	10	0.25106	T	0.35	.	4.0934	0.09980	0.0:0.466:0.0:0.534	.	1069	Q8IZF0	NALCN_HUMAN	N	1069	ENSP00000251127:K1069N	ENSP00000251127:K1069N	K	-	3	2	NALCN	100545988	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.043000	0.49823	1.111000	0.41721	0.561000	0.74099	AAG		0.358	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		9	47	0	0	0	0	9	47				
TEP1	7011	broad.mit.edu	37	14	20849805	20849805	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:20849805G>A	ENST00000262715.5	-	31	4505	c.4465C>T	c.(4465-4467)Ctg>Ttg	p.L1489L	TEP1_ENST00000545983.1_Intron|TEP1_ENST00000556935.1_Silent_p.L1381L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1489	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGAGGCACAGCCGGGCACCA	0.602																																						uc001vxe.2		NA																	0				ovary(5)	5						c.(4465-4467)CTG>TTG		telomerase-associated protein 1							89.0	86.0	87.0					14																	20849805		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20849805G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4465C>T	14.37:g.20849805G>A						TEP1_uc010ahk.2_Silent_p.L832L|TEP1_uc010tlf.1_Intron|TEP1_uc010tlg.1_Silent_p.L1381L|TEP1_uc010tlh.1_Intron	p.L1489L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	31	4505	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1489			NACHT.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.4465C>T	CCDS9548.1																																																																																				0.602	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		17	92	0	0	0	0	17	92				
OR4E2	26686	broad.mit.edu	37	14	22133982	22133982	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:22133982C>G	ENST00000408935.1	+	1	686	c.686C>G	c.(685-687)tCa>tGa	p.S229*		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CGAAAACACTCAGCTGAAGGG	0.517																																						uc010tmd.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(685-687)TCA>TGA		olfactory receptor, family 4, subfamily E,							124.0	115.0	118.0					14																	22133982		1963	4147	6110	SO:0001587	stop_gained	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22133982C>G		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.686C>G	14.37:g.22133982C>G	ENSP00000386195:p.Ser229*						p.S229*	NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	686	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	229			Cytoplasmic (Potential).		Q6IET6|Q96R62	Nonsense_Mutation	SNP	ENST00000408935.1	37	c.686C>G	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499031	0.64298	.	.	ENSG00000221977	ENST00000408935	.	.	.	5.59	5.59	0.84812	.	0.000000	0.32785	U	0.005651	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4289	0.87534	0.0:1.0:0.0:0.0	.	.	.	.	X	229	.	ENSP00000386195:S229X	S	+	2	0	OR4E2	21203822	0.000000	0.05858	1.000000	0.80357	0.390000	0.30446	0.850000	0.27737	2.782000	0.95742	0.591000	0.81541	TCA		0.517	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			11	64	0	0	0	0	11	64				
PRKD1	5587	broad.mit.edu	37	14	30066700	30066700	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:30066700C>G	ENST00000331968.5	-	16	2660	c.2431G>C	c.(2431-2433)Gaa>Caa	p.E811Q	PRKD1_ENST00000415220.2_Missense_Mutation_p.E819Q	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	811	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATATTACCTTCATGAGATATT	0.279																																						uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(2431-2433)GAA>CAA		protein kinase D1							101.0	100.0	100.0					14																	30066700		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30066700C>G		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2431G>C	14.37:g.30066700C>G	ENSP00000333568:p.Glu811Gln						p.E811Q	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	16	2612	-	Hepatocellular(127;0.0604)		811			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2431G>C	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378165	0.42105	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.68624	-0.34;-0.34	5.44	5.44	0.79542	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063724	0.64402	D	0.000007	T	0.63604	0.2525	L	0.43152	1.355	0.53005	D	0.999967	B	0.23128	0.08	B	0.27608	0.081	T	0.57991	-0.7715	10	0.35671	T	0.21	.	19.6286	0.95691	0.0:1.0:0.0:0.0	.	811	Q15139	KPCD1_HUMAN	Q	811;819	ENSP00000333568:E811Q;ENSP00000390535:E819Q	ENSP00000333568:E811Q	E	-	1	0	PRKD1	29136451	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	6.002000	0.70693	2.692000	0.91855	0.650000	0.86243	GAA		0.279	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		12	66	0	0	0	0	12	66				
NPAS3	64067	broad.mit.edu	37	14	33684490	33684490	+	Silent	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:33684490T>A	ENST00000356141.4	+	3	243	c.243T>A	c.(241-243)ccT>ccA	p.P81P	NPAS3_ENST00000341321.4_Silent_p.P81P|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000551492.1_Silent_p.P88P|NPAS3_ENST00000346562.2_Silent_p.P51P|NPAS3_ENST00000548645.1_Silent_p.P51P|NPAS3_ENST00000357798.5_Silent_p.P51P|NPAS3_ENST00000551008.1_5'UTR			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	81	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.			PLP -> LS (in Ref. 4; CAB45154). {ECO:0000305}.	locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGCCTCTTCCTGCAGCCATTA	0.493																																						uc001wru.2		NA																	0				ovary(1)|skin(1)	2						c.(241-243)CCT>CCA		neuronal PAS domain protein 3 isoform 3							102.0	102.0	102.0					14																	33684490		2203	4300	6503	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:33684490T>A	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.243T>A	14.37:g.33684490T>A						NPAS3_uc001wrs.2_Silent_p.P51P|NPAS3_uc001wrt.2_Silent_p.P51P|NPAS3_uc001wrv.2_Silent_p.P51P|NPAS3_uc001wrw.2_5'UTR	p.P81P	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	3	307	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		81	PLP -> LS (in Ref. 4; CAB45154).		Helix-loop-helix motif.		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.243T>A	CCDS53891.1																																																																																				0.493	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			17	103	0	0	0	0	17	103				
MIPOL1	145282	broad.mit.edu	37	14	37754564	37754564	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:37754564G>T	ENST00000327441.7	+	8	1001	c.535G>T	c.(535-537)Gaa>Taa	p.E179*	MIPOL1_ENST00000539062.2_Nonsense_Mutation_p.E148*|MIPOL1_ENST00000396294.2_Nonsense_Mutation_p.E179*|MIPOL1_ENST00000556451.1_Nonsense_Mutation_p.E148*|MIPOL1_ENST00000536774.1_5'UTR|MIPOL1_ENST00000537471.1_Nonsense_Mutation_p.E179*|MIPOL1_ENST00000545536.1_Nonsense_Mutation_p.E148*	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	179						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GGAACGTGATGAAGCTGTTAT	0.378																																						uc001wuc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(535-537)GAA>TAA		mirror-image polydactyly 1							227.0	212.0	217.0					14																	37754564		2203	4300	6503	SO:0001587	stop_gained	145282							g.chr14:37754564G>T	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.535G>T	14.37:g.37754564G>T	ENSP00000333539:p.Glu179*					MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Nonsense_Mutation_p.E148*|MIPOL1_uc001wud.2_Nonsense_Mutation_p.E179*|MIPOL1_uc010ams.2_Nonsense_Mutation_p.E179*|MIPOL1_uc001wue.2_Nonsense_Mutation_p.E148*|MIPOL1_uc010amt.2_5'UTR	p.E179*	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	8	1038	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		179			Potential.		D3DSA4|Q7Z3J0|Q8IV14	Nonsense_Mutation	SNP	ENST00000327441.7	37	c.535G>T	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	G	44	10.906383	0.99486	.	.	ENSG00000151338	ENST00000327441;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	.	.	.	5.4	4.5	0.54988	.	0.478127	0.23680	N	0.045622	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-3.8931	15.1578	0.72759	0.1322:0.0:0.8678:0.0	.	.	.	.	X	179;148;148;179;179;148	.	ENSP00000333539:E179X	E	+	1	0	MIPOL1	36824315	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.565000	0.36386	0.670000	0.31165	-1.134000	0.01955	GAA		0.378	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		14	79	1	0	1.03e-11	1.99e-11	14	79				
SSTR1	6751	broad.mit.edu	37	14	38679680	38679680	+	Silent	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:38679680C>A	ENST00000267377.2	+	3	1703	c.1086C>A	c.(1084-1086)gcC>gcA	p.A362A		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	362					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	AGAGCCGTGCCTACAGTGTGG	0.612																																						uc001wul.1		NA																	0				central_nervous_system(3)|ovary(1)|lung(1)	5						c.(1084-1086)GCC>GCA		somatostatin receptor 1	Octreotide(DB00104)						66.0	66.0	66.0					14																	38679680		2203	4300	6503	SO:0001819	synonymous_variant	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679680C>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.1086C>A	14.37:g.38679680C>A						SSTR1_uc010amu.1_Intron	p.A362A	NM_001049	NP_001040	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1703	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		362			Cytoplasmic (Potential).			Silent	SNP	ENST00000267377.2	37	c.1086C>A	CCDS9666.1																																																																																				0.612	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			18	75	1	0	3.52e-12	6.88e-12	18	75				
LRFN5	145581	broad.mit.edu	37	14	42356976	42356976	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:42356976G>T	ENST00000298119.4	+	3	2337	c.1148G>T	c.(1147-1149)aGt>aTt	p.S383I	LRFN5_ENST00000554171.1_Missense_Mutation_p.S383I|LRFN5_ENST00000554120.1_Missense_Mutation_p.S383I	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	383						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTACTAAATAGTACAAACCAT	0.393										HNSCC(30;0.082)																												uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1147-1149)AGT>ATT		leucine rich repeat and fibronectin type III							77.0	80.0	79.0					14																	42356976		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356976G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1148G>T	14.37:g.42356976G>T	ENSP00000298119:p.Ser383Ile	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.S383I	p.S383I	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2346	+			383			Extracellular (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1148G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124300	0.37533	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.53857	0.73;0.6;0.6	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000002	T	0.54062	0.1835	L	0.49778	1.585	0.51233	D	0.99991	P;P	0.39071	0.658;0.527	B;B	0.42245	0.381;0.374	T	0.56980	-0.7889	10	0.56958	D	0.05	.	17.0338	0.86468	0.0:0.0:1.0:0.0	.	383;383	G3V364;Q96NI6	.;LRFN5_HUMAN	I	383	ENSP00000298119:S383I;ENSP00000451897:S383I;ENSP00000451067:S383I	ENSP00000298119:S383I	S	+	2	0	LRFN5	41426726	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.516000	0.60496	2.680000	0.91292	0.563000	0.77884	AGT		0.393	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		10	56	1	0	1.59e-06	2.84e-06	10	56				
FSCB	84075	broad.mit.edu	37	14	44975712	44975712	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:44975712C>A	ENST00000340446.4	-	1	770	c.479G>T	c.(478-480)aGt>aTt	p.S160I	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	160						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTCTGATTCACTAAAGTATGT	0.418																																						uc001wvn.2		NA																	0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(478-480)AGT>ATT		fibrous sheath CABYR binding protein							186.0	187.0	187.0					14																	44975712		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975712C>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.479G>T	14.37:g.44975712C>A	ENSP00000344579:p.Ser160Ile						p.S160I	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	788	-			160					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.479G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	c	13.49	2.253066	0.39797	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.23552	1.9	5.4	1.32	0.21799	.	.	.	.	.	T	0.40767	0.1130	L	0.52573	1.65	0.09310	N	0.999999	D	0.71674	0.998	D	0.69142	0.962	T	0.21008	-1.0258	9	0.72032	D	0.01	-1.6018	9.9882	0.41854	0.0:0.5347:0.3911:0.0742	.	160	Q5H9T9	FSCB_HUMAN	I	160	ENSP00000344579:S160I	ENSP00000344579:S160I	S	-	2	0	FSCB	44045462	0.252000	0.23972	0.552000	0.28243	0.272000	0.26649	0.270000	0.18607	0.043000	0.15746	-0.119000	0.15052	AGT		0.418	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		29	157	1	0	1.14e-10	2.16e-10	29	157				
FSCB	84075	broad.mit.edu	37	14	44975773	44975773	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:44975773A>T	ENST00000340446.4	-	1	709	c.418T>A	c.(418-420)Tgg>Agg	p.W140R	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	140						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ATCATGGTCCAGTATCCTGTA	0.423																																						uc001wvn.2		NA																	0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(418-420)TGG>AGG		fibrous sheath CABYR binding protein							197.0	199.0	198.0					14																	44975773		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975773A>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.418T>A	14.37:g.44975773A>T	ENSP00000344579:p.Trp140Arg						p.W140R	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	727	-			140					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.418T>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.623224	0.28889	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.21361	2.01	4.9	2.35	0.29111	.	.	.	.	.	T	0.26955	0.0660	L	0.59436	1.845	0.24971	N	0.991662	P	0.50943	0.94	P	0.51135	0.66	T	0.14420	-1.0473	9	0.87932	D	0	-0.0204	3.887	0.09102	0.7146:0.0:0.1005:0.1849	.	140	Q5H9T9	FSCB_HUMAN	R	140	ENSP00000344579:W140R	ENSP00000344579:W140R	W	-	1	0	FSCB	44045523	0.923000	0.31300	0.975000	0.42487	0.076000	0.17211	1.924000	0.40065	0.835000	0.34877	0.459000	0.35465	TGG		0.423	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		39	164	0	0	0	0	39	164				
FKBP3	2287	broad.mit.edu	37	14	45590112	45590112	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:45590112C>G	ENST00000216330.3	-	6	910	c.500G>C	c.(499-501)gGa>gCa	p.G167A	FKBP3_ENST00000396062.3_Missense_Mutation_p.G167A			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	167	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TTTGCCTACTCCGACCTTAAA	0.333																																						uc010tqf.1		NA																	0					0						c.(499-501)GGA>GCA		FK506 binding protein 3, 25kDa							150.0	143.0	145.0					14																	45590112		2202	4300	6502	SO:0001583	missense	2287				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity	g.chr14:45590112C>G	M96256	CCDS9683.1	14q21.2	2008-08-11	2002-08-29		ENSG00000100442	ENSG00000100442			3719	protein-coding gene	gene with protein product		186947	"""FK506-binding protein 3 (25kD)"""			1374240, 1532945	Standard	NM_002013		Approved	FKBP-25, PPIase	uc010tqf.2	Q00688	OTTHUMG00000140267	ENST00000216330.3:c.500G>C	14.37:g.45590112C>G	ENSP00000216330:p.Gly167Ala						p.G167A	NM_002013	NP_002004	Q00688	FKBP3_HUMAN			5	573	-			167			PPIase FKBP-type.		B2R4Q9|Q14317	Missense_Mutation	SNP	ENST00000216330.3	37	c.500G>C	CCDS9683.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206723	0.95033	.	.	ENSG00000100442	ENST00000216330;ENST00000396062	D;D	0.92299	-3.01;-3.01	5.55	5.55	0.83447	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	M	0.93062	3.375	0.80722	D	1	D	0.63046	0.992	P	0.62740	0.906	D	0.97548	1.0090	10	0.87932	D	0	-9.6698	19.0943	0.93244	0.0:1.0:0.0:0.0	.	167	Q00688	FKBP3_HUMAN	A	167	ENSP00000216330:G167A;ENSP00000379374:G167A	ENSP00000216330:G167A	G	-	2	0	FKBP3	44659862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.678000	0.84035	2.598000	0.87819	0.655000	0.94253	GGA		0.333	FKBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276796.1	NM_002013		3	61	0	0	0	0	3	61				
FRMD6	122786	broad.mit.edu	37	14	52194577	52194577	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:52194577C>G	ENST00000344768.5	+	14	1895	c.1699C>G	c.(1699-1701)Cag>Gag	p.Q567E	FRMD6_ENST00000395718.2_Missense_Mutation_p.Q559E|FRMD6_ENST00000554167.1_Missense_Mutation_p.Q490E|FRMD6_ENST00000356218.4_Missense_Mutation_p.Q559E|FRMD6_ENST00000553556.1_Missense_Mutation_p.Q209E			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	567					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GGACACTGCTCAGAGTTACAC	0.502																																						uc001wzd.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1699-1701)CAG>GAG		FERM domain containing 6							138.0	108.0	118.0					14																	52194577		2203	4300	6503	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52194577C>G	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1699C>G	14.37:g.52194577C>G	ENSP00000343899:p.Gln567Glu					FRMD6_uc001wzb.2_Missense_Mutation_p.Q559E|FRMD6_uc001wzc.2_Missense_Mutation_p.Q559E|FRMD6_uc001wze.2_Missense_Mutation_p.Q490E|FRMD6_uc001wzf.2_Missense_Mutation_p.Q260E|FRMD6_uc001wzg.2_Missense_Mutation_p.Q209E	p.Q567E	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			14	1984	+	all_epithelial(31;0.0163)|Breast(41;0.089)		567					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.1699C>G	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770551	0.69992	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000553556	T;T;T;T	0.78003	-1.14;-1.14;-0.92;-0.72	5.96	5.96	0.96718	.	0.058536	0.64402	D	0.000001	T	0.67221	0.2870	N	0.22421	0.69	0.58432	D	0.999998	B;B;B	0.33883	0.43;0.255;0.372	B;B;B	0.33254	0.16;0.038;0.083	T	0.63184	-0.6694	10	0.13853	T	0.58	.	20.017	0.97481	0.0:1.0:0.0:0.0	.	490;567;559	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	E	559;559;567;490;209	ENSP00000348550:Q559E;ENSP00000379068:Q559E;ENSP00000343899:Q567E;ENSP00000451977:Q490E	ENSP00000343899:Q567E	Q	+	1	0	FRMD6	51264327	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	CAG		0.502	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		11	45	0	0	0	0	11	45				
ABCD4	5826	broad.mit.edu	37	14	74761852	74761852	+	Splice_Site	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:74761852T>A	ENST00000356924.4	-	7	861	c.718A>T	c.(718-720)Aga>Tga	p.R240*	ABCD4_ENST00000557588.1_Splice_Site_p.S198C|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000298816.7_Intron|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	240	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CAGACTCACCTGTAGAAAGCA	0.562																																						uc001xpr.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4						c.(718-720)AGA>TGA		ATP-binding cassette, sub-family D, member 4							146.0	113.0	125.0					14																	74761852		2203	4300	6503	SO:0001630	splice_region_variant	5826					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr14:74761852T>A	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.719+1A>T	14.37:g.74761852T>A						ABCD4_uc001xps.2_Nonsense_Mutation_p.R81*|ABCD4_uc001xpt.2_Nonsense_Mutation_p.R81*|ABCD4_uc010tur.1_Intron|ABCD4_uc001xpu.2_Silent_p.T8T|ABCD4_uc001xpv.2_RNA	p.R240*	NM_005050	NP_005041	O14678	ABCD4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00153)	7	870	-			240			ABC transmembrane type-1.		A8K5L7|Q6IAQ0|Q96E75	Nonsense_Mutation	SNP	ENST00000356924.4	37	c.718A>T	CCDS9828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	38|38	7.185952|7.185952	0.98121|0.98121	.|.	.|.	ENSG00000119688|ENSG00000119688	ENST00000356924|ENST00000557588	.|D	.|0.99105	.|-5.43	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|D	.|0.98782	.|0.9590	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.99038	.|1.0823	.|5	0.02654|.	T|.	1|.	.|.	14.6597|14.6597	0.68861|0.68861	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|C	240|198	.|ENSP00000451993:S198C	ENSP00000349396:R240X|.	R|S	-|-	1|1	2|0	ABCD4|ABCD4	73831605|73831605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	4.907000|4.907000	0.63300|0.63300	2.047000|2.047000	0.60756|0.60756	0.482000|0.482000	0.46254|0.46254	AGA|AGT		0.562	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050	Nonsense_Mutation	17	54	0	0	0	0	17	54				
SYNDIG1L	646658	broad.mit.edu	37	14	74874270	74874270	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:74874270C>T	ENST00000554823.1	-	3	746	c.685G>A	c.(685-687)Gca>Aca	p.A229T	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.A229T			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	229					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						ATGTAAGCTGCCAGAGCCACC	0.652																																						uc001xpx.2		NA																	0					0						c.(685-687)GCA>ACA		transmembrane protein 90A							50.0	62.0	58.0					14																	74874270		2148	4261	6409	SO:0001583	missense	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74874270C>T		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"""caudate-and putamen-enriched sequence"", ""interferon induced transmembrane protein domain containing 4"""	609999	"""transmembrane protein 90A"""	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.685G>A	14.37:g.74874270C>T	ENSP00000450439:p.Ala229Thr						p.A229T	NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00159)	4	933	-			229						Missense_Mutation	SNP	ENST00000554823.1	37	c.685G>A	CCDS41970.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305790	0.81247	.	.	ENSG00000183379	ENST00000331628;ENST00000554823	D;D	0.95307	-3.67;-3.67	4.84	4.84	0.62591	.	0.217654	0.37261	N	0.002176	D	0.85483	0.5707	N	0.14661	0.345	0.34064	D	0.657646	P	0.44734	0.842	B	0.37731	0.257	D	0.86946	0.2082	10	0.40728	T	0.16	-0.0028	5.7412	0.18094	0.0:0.7692:0.0:0.2308	.	229	A6NDD5	SYN1L_HUMAN	T	229	ENSP00000331474:A229T;ENSP00000450439:A229T	ENSP00000331474:A229T	A	-	1	0	SYNDIG1L	73944023	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.591000	0.46163	2.510000	0.84645	0.561000	0.74099	GCA		0.652	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		17	68	0	0	0	0	17	68				
KCNK10	54207	broad.mit.edu	37	14	88707107	88707107	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:88707107T>A	ENST00000340700.5	-	3	896	c.445A>T	c.(445-447)Agc>Tgc	p.S149C	KCNK10_ENST00000319231.5_Missense_Mutation_p.S154C|KCNK10_ENST00000312350.5_Missense_Mutation_p.S154C	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	149					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CAGTGGCTGCTGTTGTTGGAA	0.458																																						uc001xwo.2		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(445-447)AGC>TGC		potassium channel, subfamily K, member 10							116.0	104.0	108.0					14																	88707107		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88707107T>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.445A>T	14.37:g.88707107T>A	ENSP00000343104:p.Ser149Cys					KCNK10_uc001xwm.2_Missense_Mutation_p.S154C|KCNK10_uc001xwn.2_Missense_Mutation_p.S154C	p.S149C	NM_021161	NP_066984	P57789	KCNKA_HUMAN			3	902	-			149					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.445A>T	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.340092	0.81911	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231;ENST00000556282	T;T;T;D	0.97850	1.49;1.49;1.49;-4.57	5.91	5.91	0.95273	Ion transport 2 (1);	0.165812	0.64402	D	0.000002	D	0.98488	0.9496	M	0.75447	2.3	0.80722	D	1	D;D;B	0.89917	1.0;0.999;0.392	D;D;B	0.74674	0.984;0.984;0.262	D	0.99349	1.0914	10	0.56958	D	0.05	.	16.0128	0.80413	0.0:0.0:0.0:1.0	.	149;154;154	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	C	149;154;154;137	ENSP00000343104:S149C;ENSP00000310568:S154C;ENSP00000312811:S154C;ENSP00000452587:S137C	ENSP00000310568:S154C	S	-	1	0	KCNK10	87776860	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.854000	0.69503	2.252000	0.74401	0.533000	0.62120	AGC		0.458	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		27	105	0	0	0	0	27	105				
SPATA7	55812	broad.mit.edu	37	14	88904701	88904701	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:88904701G>C	ENST00000393545.4	+	12	2024	c.1735G>C	c.(1735-1737)Gac>Cac	p.D579H	SPATA7_ENST00000556553.1_Missense_Mutation_p.D547H|SPATA7_ENST00000356583.5_Missense_Mutation_p.D547H|SPATA7_ENST00000045347.7_Missense_Mutation_p.D438H	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	579					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CAATAATCATGACATGGAGTT	0.383																																						uc001xwq.2		NA																	0				ovary(1)	1						c.(1735-1737)GAC>CAC		spermatogenesis-associated protein 7 isoform a							66.0	54.0	58.0					14																	88904701		2203	4300	6503	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88904701G>C	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.1735G>C	14.37:g.88904701G>C	ENSP00000377176:p.Asp579His					SPATA7_uc001xwr.2_Missense_Mutation_p.D547H|SPATA7_uc001xws.2_Missense_Mutation_p.D515H|SPATA7_uc001xwt.2_Missense_Mutation_p.D473H|SPATA7_uc001xwu.2_Missense_Mutation_p.D94H	p.D579H	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN			12	1886	+			579					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.1735G>C	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256077	0.59321	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000045347	T;T;T;T	0.50277	1.28;1.33;1.28;0.75	6.17	4.33	0.51752	.	0.540278	0.19017	N	0.124937	T	0.53981	0.1830	L	0.47716	1.5	0.09310	N	1	D;D;D;D	0.76494	0.98;0.994;0.994;0.999	P;P;P;P	0.61592	0.788;0.882;0.845;0.891	T	0.41484	-0.9506	10	0.37606	T	0.19	-3.7269	8.1133	0.30928	0.079:0.0:0.7646:0.1565	.	438;547;547;579	Q9P0W8-3;A8K3L6;Q9P0W8-2;Q9P0W8	.;.;.;SPAT7_HUMAN	H	547;579;547;438	ENSP00000451128:D547H;ENSP00000377176:D579H;ENSP00000348991:D547H;ENSP00000045347:D438H	ENSP00000045347:D438H	D	+	1	0	SPATA7	87974454	0.188000	0.23250	0.002000	0.10522	0.133000	0.20885	1.703000	0.37846	0.913000	0.36797	0.655000	0.94253	GAC		0.383	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			7	28	0	0	0	0	7	28				
TTC8	123016	broad.mit.edu	37	14	89305909	89305909	+	Silent	SNP	A	A	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:89305909A>G	ENST00000345383.5	+	2	312	c.228A>G	c.(226-228)caA>caG	p.Q76Q	Y_RNA_ENST00000384612.1_RNA|TTC8_ENST00000380656.2_Silent_p.Q86Q|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000346301.4_Silent_p.Q76Q|TTC8_ENST00000358622.5_5'Flank|TTC8_ENST00000338104.6_Silent_p.Q76Q	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	86					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CTATAGCTCAAGTTCCACGTA	0.328																																						uc010ath.2		NA																	0					0						c.(226-228)CAA>CAG		tetratricopeptide repeat domain 8 isoform B							120.0	121.0	121.0					14																	89305909		2203	4300	6503	SO:0001819	synonymous_variant	123016	Bardet-Biedl_syndrome			cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89305909A>G	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.228A>G	14.37:g.89305909A>G						TTC8_uc010atg.1_RNA|TTC8_uc001xxl.2_5'UTR|TTC8_uc010ati.2_5'UTR|TTC8_uc001xxm.2_Silent_p.Q76Q|TTC8_uc010atj.2_Intron|TTC8_uc001xxi.2_Silent_p.Q86Q|TTC8_uc001xxj.2_Silent_p.Q76Q|TTC8_uc001xxk.2_Silent_p.Q76Q	p.Q76Q	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN			2	362	+			86					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Silent	SNP	ENST00000345383.5	37	c.228A>G	CCDS9885.1	.	.	.	.	.	.	.	.	.	.	A	9.524	1.108984	0.20714	.	.	ENSG00000165533	ENST00000554686	.	.	.	6.02	2.39	0.29439	.	.	.	.	.	T	0.58736	0.2143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50972	-0.8764	4	.	.	.	-9.8944	9.6442	0.39857	0.7994:0.0:0.2006:0.0	.	.	.	.	R	66	.	.	K	+	2	0	TTC8	88375662	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.247000	0.32815	0.165000	0.19558	0.528000	0.53228	AAG		0.328	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		6	45	0	0	0	0	6	45				
CCDC88C	440193	broad.mit.edu	37	14	91780146	91780146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:91780146G>A	ENST00000389857.6	-	15	2100	c.2014C>T	c.(2014-2016)Cag>Tag	p.Q672*		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	672					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTCTCCAGCTGCAGGCCCTGG	0.627																																						uc010aty.2		NA																	0				ovary(3)	3						c.(2014-2016)CAG>TAG		DVL-binding protein DAPLE							23.0	24.0	24.0					14																	91780146		1986	4141	6127	SO:0001587	stop_gained	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91780146G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2014C>T	14.37:g.91780146G>A	ENSP00000374507:p.Gln672*						p.Q672*	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			15	2113	-		all_cancers(154;0.0468)	672			Potential.		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Nonsense_Mutation	SNP	ENST00000389857.6	37	c.2014C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	38	7.097212	0.98063	.	.	ENSG00000015133	ENST00000389857	.	.	.	5.62	1.65	0.23941	.	0.271872	0.25230	U	0.032162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-3.2505	6.6339	0.22872	0.1165:0.5481:0.2674:0.0679	.	.	.	.	X	672	.	ENSP00000374507:Q672X	Q	-	1	0	CCDC88C	90849899	1.000000	0.71417	0.944000	0.38274	0.987000	0.75469	2.401000	0.44513	0.031000	0.15407	0.561000	0.74099	CAG		0.627	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		6	15	0	0	0	0	6	15				
PAPOLA	10914	broad.mit.edu	37	14	97022574	97022574	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:97022574C>T	ENST00000216277.8	+	19	2048	c.1828C>T	c.(1828-1830)Cct>Tct	p.P610S	PAPOLA_ENST00000392990.2_Missense_Mutation_p.P610S	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	610	Ser/Thr-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCACCAAAGCCTACGGTCTC	0.418																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.2		NA																	0					0						c.(1828-1830)CCT>TCT		poly(A) polymerase alpha							153.0	139.0	144.0					14																	97022574		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97022574C>T	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1828C>T	14.37:g.97022574C>T	ENSP00000216277:p.Pro610Ser					PAPOLA_uc001yfr.2_Missense_Mutation_p.P609S|PAPOLA_uc010twv.1_Missense_Mutation_p.P610S|PAPOLA_uc010avp.2_Missense_Mutation_p.P360S	p.P610S	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	19	2038	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	610			Ser/Thr-rich.		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.1828C>T	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505155	0.26949	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	6.01	6.01	0.97437	.	0.058781	0.64402	D	0.000002	T	0.50616	0.1626	L	0.55481	1.735	0.40630	D	0.981844	B;B;B	0.33612	0.419;0.295;0.295	B;B;B	0.35413	0.202;0.1;0.1	T	0.47548	-0.9109	9	0.05525	T	0.97	.	15.2498	0.73536	0.1404:0.8596:0.0:0.0	.	626;626;610	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	S	610;626;610;360	.	ENSP00000216277:P610S	P	+	1	0	PAPOLA	96092327	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.632000	0.54287	2.855000	0.98099	0.585000	0.79938	CCT		0.418	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			22	86	0	0	0	0	22	86				
DIO3	1735	broad.mit.edu	37	14	102028010	102028010	+	Silent	SNP	C	C	G	rs371249251		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:102028010C>G	ENST00000510508.4	+	1	323	c.177C>G	c.(175-177)ctC>ctG	p.L59L	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Silent_p.L33L			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	59					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CCTTCATGCTCTGGCTTCTCG	0.657																																						uc010txq.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(97-99)CTC>CTG		deiodinase, iodothyronine, type III				0,4192		0,0,2096	49.0	53.0	52.0		177	-2.5	0.7	14		52	1,8389		0,1,4194	no	coding-synonymous	DIO3	NM_001362.3		0,1,6290	GG,GC,CC		0.0119,0.0,0.0079		59/305	102028010	1,12581	2096	4195	6291	SO:0001819	synonymous_variant	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028010C>G	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.177C>G	14.37:g.102028010C>G						DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	p.L33L	NM_001362	NP_001353	P55073	IOD3_HUMAN			1	323	+		all_neural(303;0.185)	33			Helical; Signal-anchor for type II membrane protein; (Potential).		G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	c.99C>G	CCDS41992.2																																																																																				0.657	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		10	77	0	0	0	0	10	77				
MAGEL2	54551	broad.mit.edu	37	15	23890179	23890179	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr15:23890179G>A	ENST00000532292.1	-	1	996	c.902C>T	c.(901-903)gCc>gTc	p.A301V		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	184	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GTCATGAAAGGCTAGCGTGTG	0.627																																						uc001ywj.3		NA																	0					0						c.(901-903)GCC>GTC		MAGE-like protein 2							43.0	52.0	49.0					15																	23890179		2140	4277	6417	SO:0001583	missense	54551							g.chr15:23890179G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.902C>T	15.37:g.23890179G>A	ENSP00000433433:p.Ala301Val						p.A301V	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	997	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.902C>T		.	.	.	.	.	.	.	.	.	.	G	7.102	0.574228	0.13623	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.94	2.06	0.26882	.	.	.	.	.	T	0.20455	0.0492	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.23940	-1.0174	5	.	.	.	.	6.8198	0.23851	0.0:0.1952:0.6026:0.2023	.	.	.	.	S	333	.	.	P	-	1	0	MAGEL2	21441272	0.014000	0.17966	0.008000	0.14137	0.236000	0.25371	0.196000	0.17176	0.631000	0.30412	0.655000	0.94253	CCT		0.627	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		18	46	0	0	0	0	18	46				
TTBK2	146057	broad.mit.edu	37	15	43067454	43067454	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr15:43067454G>A	ENST00000267890.6	-	13	1985	c.1877C>T	c.(1876-1878)cCt>cTt	p.P626L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	626					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGCAGCAGTAGGAGGACCCTC	0.488																																						uc001zqo.2		NA																	0				ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7						c.(1876-1878)CCT>CTT		tau tubulin kinase 2							113.0	109.0	110.0					15																	43067454		1872	4109	5981	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43067454G>A	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1877C>T	15.37:g.43067454G>A	ENSP00000267890:p.Pro626Leu					TTBK2_uc010bcy.2_Missense_Mutation_p.P557L	p.P626L	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	13	2316	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	626					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.1877C>T	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	8.586	0.883544	0.17467	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.37058	1.22	5.77	3.89	0.44902	.	0.332930	0.30020	N	0.010610	T	0.16727	0.0402	N	0.08118	0	0.58432	D	0.999999	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.05305	-1.0893	10	0.39692	T	0.17	.	5.0683	0.14592	0.0742:0.2496:0.5312:0.1451	.	557;626	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	L	626;556;1031	ENSP00000267890:P626L	ENSP00000263802:P1031L	P	-	2	0	TTBK2	40854746	0.991000	0.36638	0.999000	0.59377	0.230000	0.25150	0.730000	0.26043	0.781000	0.33589	0.650000	0.86243	CCT		0.488	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		63	67	0	0	0	0	63	67				
USP8	9101	broad.mit.edu	37	15	50786338	50786338	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr15:50786338G>A	ENST00000396444.3	+	16	2857	c.2519G>A	c.(2518-2520)gGa>gAa	p.G840E	USP8_ENST00000433963.1_Missense_Mutation_p.G840E|USP8_ENST00000425032.3_Missense_Mutation_p.G734E|USP8_ENST00000307179.4_Missense_Mutation_p.G840E|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	840	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTGTGGACAGGACAGTATAGA	0.383																																						uc001zym.3		NA																	0				lung(1)|central_nervous_system(1)	2						c.(2518-2520)GGA>GAA		ubiquitin specific peptidase 8							117.0	113.0	114.0					15																	50786338		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50786338G>A	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2519G>A	15.37:g.50786338G>A	ENSP00000379721:p.Gly840Glu					USP8_uc001zyl.3_Missense_Mutation_p.G840E|USP8_uc001zyn.3_Missense_Mutation_p.G840E|USP8_uc010ufh.1_Missense_Mutation_p.G734E|uc001zyo.1_RNA|USP8_uc001zyp.3_Missense_Mutation_p.G7E	p.G840E	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	17	3019	+			840					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.2519G>A	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934692	0.92458	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.18	5.18	0.71444	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.490245	0.22925	N	0.053961	T	0.39279	0.1072	L	0.34521	1.04	0.80722	D	1	D;D	0.56968	0.978;0.963	P;P	0.53518	0.653;0.728	T	0.12451	-1.0547	10	0.48119	T	0.1	-25.0227	19.0607	0.93091	0.0:0.0:1.0:0.0	.	734;840	B4DKA8;P40818	.;UBP8_HUMAN	E	840;840;840;734;65;60	ENSP00000379721:G840E;ENSP00000405537:G840E;ENSP00000302239:G840E;ENSP00000412682:G734E	ENSP00000302239:G840E	G	+	2	0	USP8	48573630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.444000	0.97578	2.577000	0.86979	0.650000	0.86243	GGA		0.383	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		19	87	0	0	0	0	19	87				
NOX5	79400	broad.mit.edu	37	15	69335123	69335123	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr15:69335123G>C	ENST00000388866.3	+	10	1666	c.1625G>C	c.(1624-1626)aGa>aCa	p.R542T	NOX5_ENST00000448182.3_Missense_Mutation_p.R496T|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000260364.5_Missense_Mutation_p.R524T|NOX5_ENST00000530406.2_Missense_Mutation_p.R514T|NOX5_ENST00000455873.3_Missense_Mutation_p.R507T	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	542	C-terminal catalytic region.|FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GTGACAATGAGAAAGAGTCAA	0.552																																						uc002ars.1		NA																	0				breast(1)|pancreas(1)	2						c.(1624-1626)AGA>ACA		NADPH oxidase, EF-hand calcium binding domain 5							148.0	127.0	134.0					15																	69335123		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69335123G>C	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1625G>C	15.37:g.69335123G>C	ENSP00000373518:p.Arg542Thr					NOX5_uc002arp.1_Missense_Mutation_p.R524T|NOX5_uc002arq.1_Missense_Mutation_p.R496T|NOX5_uc010bid.1_Missense_Mutation_p.R507T|NOX5_uc002arr.1_Missense_Mutation_p.R514T|NOX5_uc010bie.1_Missense_Mutation_p.R342T|NOX5_uc010bif.1_RNA	p.R542T	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			10	1645	+			542			FAD-binding FR-type.|Cytoplasmic (Potential).|C-terminal catalytic region.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.1625G>C	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	G	7.864	0.726766	0.15439	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.94232	-2.82;-3.38;-2.82	3.52	2.6	0.31112	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.289166	0.31809	N	0.007038	D	0.91536	0.7327	M	0.72894	2.215	0.35868	D	0.828045	P;P;P	0.46512	0.879;0.684;0.493	P;B;B	0.47573	0.55;0.425;0.3	D	0.88332	0.2969	10	0.14252	T	0.57	-4.4324	6.8511	0.24014	0.1355:0.0:0.8645:0.0	.	507;542;514	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	T	507;524;542;514	ENSP00000416828:R507T;ENSP00000373518:R542T;ENSP00000432440:R514T	ENSP00000373518:R542T	R	+	2	0	NOX5	67122177	0.957000	0.32711	0.264000	0.24511	0.341000	0.28922	0.773000	0.26661	0.477000	0.27464	0.313000	0.20887	AGA		0.552	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		19	17	0	0	0	0	19	17				
LINGO1	84894	broad.mit.edu	37	15	77906424	77906424	+	Missense_Mutation	SNP	C	C	A	rs367728067		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr15:77906424C>A	ENST00000355300.6	-	2	1999	c.1825G>T	c.(1825-1827)Gcc>Tcc	p.A609S	LINGO1_ENST00000561030.1_Missense_Mutation_p.A603S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	609					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGCGCGTCGGCGGAGCTGATG	0.672																																						uc002bct.1		NA																	0				ovary(1)|lung(1)	2						c.(1825-1827)GCC>TCC		leucine-rich repeat neuronal 6A							40.0	42.0	41.0					15																	77906424		1996	4139	6135	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906424C>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1825G>T	15.37:g.77906424C>A	ENSP00000347451:p.Ala609Ser					LINGO1_uc002bcu.1_Missense_Mutation_p.A603S	p.A609S	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	1877	-			609			Cytoplasmic (Potential).		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1825G>T	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	2.129	-0.399665	0.04865	.	.	ENSG00000169783	ENST00000355300	T	0.52526	0.66	5.36	3.49	0.39957	.	0.238525	0.42821	D	0.000641	T	0.29423	0.0733	N	0.16368	0.405	0.58432	D	0.999996	B	0.14805	0.011	B	0.11329	0.006	T	0.04565	-1.0942	10	0.17832	T	0.49	.	11.8131	0.52194	0.0:0.8594:0.0:0.1406	.	609	Q96FE5	LIGO1_HUMAN	S	609	ENSP00000347451:A609S	ENSP00000347451:A609S	A	-	1	0	LINGO1	75693479	0.998000	0.40836	0.061000	0.19648	0.188000	0.23474	4.976000	0.63785	0.651000	0.30788	0.561000	0.74099	GCC		0.672	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		10	15	1	0	2.18e-05	3.78e-05	10	15				
ADAMTS17	170691	broad.mit.edu	37	15	100672232	100672232	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr15:100672232C>G	ENST00000268070.4	-	12	1806	c.1701G>C	c.(1699-1701)caG>caC	p.Q567H	RP11-90E5.1_ENST00000560128.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	567	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CACATTTCCTCTGCCTGAAGC	0.627											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002bvv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1699-1701)CAG>CAC		ADAM metallopeptidase with thrombospondin type 1							60.0	62.0	61.0					15																	100672232		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100672232C>G	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1701G>C	15.37:g.100672232C>G	ENSP00000268070:p.Gln567His		OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1353	ADAMTS17_uc002bvx.1_Missense_Mutation_p.Q324H	p.Q567H	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	12	1780	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		567			TSP type-1 1.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.1701G>C	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610376	0.66558	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.54479	0.57	5.24	4.11	0.48088	.	0.000000	0.64402	D	0.000001	T	0.49355	0.1552	N	0.13003	0.285	0.51233	D	0.999918	D;D	0.61080	0.983;0.989	P;P	0.61070	0.807;0.883	T	0.48007	-0.9072	10	0.40728	T	0.16	.	11.2664	0.49112	0.0:0.8409:0.0:0.1591	.	324;567	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	H	567;324	ENSP00000268070:Q567H	ENSP00000268070:Q567H	Q	-	3	2	ADAMTS17	98489755	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.366000	0.34193	2.423000	0.82170	0.561000	0.74099	CAG		0.627	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		8	79	0	0	0	0	8	79				
RPL3L	6123	broad.mit.edu	37	16	1996719	1996719	+	Silent	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:1996719G>C	ENST00000268661.7	-	7	952	c.858C>G	c.(856-858)cgC>cgG	p.R286R		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	286					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCCTGCCGATGCGGAAGATCT	0.632																																						uc002cnh.2		NA																	0					0						c.(856-858)CGC>CGG		ribosomal protein L3-like							37.0	36.0	37.0					16																	1996719		2198	4298	6496	SO:0001819	synonymous_variant	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1996719G>C	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.858C>G	16.37:g.1996719G>C							p.R286R	NM_005061	NP_005052	Q92901	RL3L_HUMAN			7	905	-			286						Silent	SNP	ENST00000268661.7	37	c.858C>G	CCDS10450.1																																																																																				0.632	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		8	28	0	0	0	0	8	28				
CLEC16A	23274	broad.mit.edu	37	16	11071128	11071128	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:11071128G>C	ENST00000409790.1	+	8	1005	c.775G>C	c.(775-777)Gac>Cac	p.D259H	CLEC16A_ENST00000409552.3_Missense_Mutation_p.D257H	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGAGCACCTAGACCACCTGCA	0.537																																						uc002dao.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(775-777)GAC>CAC		C-type lectin domain family 16, member A							161.0	162.0	162.0					16																	11071128		2084	4218	6302	SO:0001583	missense	23274							g.chr16:11071128G>C	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.775G>C	16.37:g.11071128G>C	ENSP00000387122:p.Asp259His					CLEC16A_uc002dan.3_Missense_Mutation_p.D257H	p.D259H	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			8	1005	+			259						Missense_Mutation	SNP	ENST00000409790.1	37	c.775G>C	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988024	0.93106	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.70282	-0.47	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.84772	0.5546	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85619	0.1263	10	0.87932	D	0	-35.3586	19.0707	0.93134	0.0:0.0:1.0:0.0	.	259;257	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	H	259;259;257	ENSP00000387122:D259H	ENSP00000386495:D257H	D	+	1	0	CLEC16A	10978629	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.751000	0.98889	2.746000	0.94184	0.655000	0.94253	GAC		0.537	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		11	69	0	0	0	0	11	69				
ITGAL	3683	broad.mit.edu	37	16	30518132	30518132	+	Silent	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:30518132G>C	ENST00000356798.6	+	21	2643	c.2463G>C	c.(2461-2463)ctG>ctC	p.L821L	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.L737L|MIR4518_ENST00000580665.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	821					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AGCTGGACCTGCACTTCCCCC	0.602																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	0				ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(2461-2463)CTG>CTC		integrin alpha L isoform a precursor	Efalizumab(DB00095)						146.0	141.0	142.0					16																	30518132		2197	4300	6497	SO:0001819	synonymous_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30518132G>C		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2463G>C	16.37:g.30518132G>C						ITGAL_uc002dyj.3_Silent_p.L737L|ITGAL_uc010vev.1_Intron	p.L821L	NM_002209	NP_002200	P20701	ITAL_HUMAN			21	2639	+			821			Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.2463G>C	CCDS32433.1																																																																																				0.602	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			33	180	0	0	0	0	33	180				
ZNF668	79759	broad.mit.edu	37	16	31073227	31073227	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:31073227C>T	ENST00000538906.1	-	3	1806	c.1022G>A	c.(1021-1023)tGt>tAt	p.C341Y	ZNF668_ENST00000426488.2_Missense_Mutation_p.C364Y|ZNF668_ENST00000535577.1_Missense_Mutation_p.C341Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.C341Y|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000539836.3_Missense_Mutation_p.C364Y|ZNF668_ENST00000417110.2_Missense_Mutation_p.H139Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.C341Y	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGTCTTGTCACATTGCAGGCA	0.677																																					Colon(181;1111 1980 5060 10512 25785)	uc010caf.2		NA																	0				breast(4)	4						c.(1021-1023)TGT>TAT		zinc finger protein 668							40.0	42.0	41.0					16																	31073227		2195	4296	6491	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31073227C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1022G>A	16.37:g.31073227C>T	ENSP00000440149:p.Cys341Tyr					ZNF668_uc002eao.2_Missense_Mutation_p.C341Y	p.C341Y	NM_024706	NP_078982	Q96K58	ZN668_HUMAN			3	1379	-			341			C2H2-type 11.		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.1022G>A	CCDS10701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.293415|4.293415	0.80914|0.80914	.|.	.|.	ENSG00000167394|ENSG00000232748	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849|ENST00000417110	D;D;D;D;D|.	0.85861|.	-2.04;-2.04;-2.04;-2.04;-2.04|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87783|0.87783	0.6264|0.6264	H|H	0.95712|0.95712	3.71|3.71	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.91025|0.91025	0.4860|0.4860	10|6	0.72032|0.87932	D|D	0.01|0	-15.8338|-15.8338	18.4629|18.4629	0.90746|0.90746	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	341|.	Q96K58|.	ZN668_HUMAN|.	Y|Y	364;341;341;341;341|139	ENSP00000442573:C364Y;ENSP00000441349:C341Y;ENSP00000440149:C341Y;ENSP00000378434:C341Y;ENSP00000300849:C341Y|.	ENSP00000300849:C341Y|ENSP00000391989:H139Y	C|H	-|+	2|1	0|0	ZNF668|AC135050.1	30980728|30980728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.707000|0.707000	0.40811|0.40811	7.797000|7.797000	0.85911|0.85911	2.644000|2.644000	0.89710|0.89710	0.563000|0.563000	0.77884|0.77884	TGT|CAT		0.677	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		13	59	0	0	0	0	13	59				
C16orf58	64755	broad.mit.edu	37	16	31502206	31502206	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:31502206C>T	ENST00000327237.2	-	13	1396	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N	C16orf58_ENST00000567994.1_Missense_Mutation_p.D408N|C16orf58_ENST00000570164.1_Missense_Mutation_p.D451N|AC026471.6_ENST00000565137.1_RNA			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	453				D -> G (in Ref. 1; BAB14730). {ECO:0000305}.		integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						CTCCACTCATCCACCTCTAGC	0.612																																						uc002eci.1		NA																	0				ovary(1)|breast(1)	2						c.(1357-1359)GGT>AGT		hypothetical protein LOC64755							95.0	81.0	86.0					16																	31502206		2197	4300	6497	SO:0001583	missense	64755					integral to membrane		g.chr16:31502206C>T	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.1357G>A	16.37:g.31502206C>T	ENSP00000317579:p.Asp453Asn					C16orf58_uc002ecg.2_5'Flank|C16orf58_uc002ech.1_Missense_Mutation_p.D191N	p.G453S	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN			13	1369	-			453	D -> G (in Ref. 1; BAB14730).				Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Missense_Mutation	SNP	ENST00000327237.2	37	c.1357G>A	CCDS10715.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111604	0.77210	.	.	ENSG00000140688	ENST00000327237;ENST00000452223	T	0.46451	0.87	5.7	5.7	0.88788	.	0.092713	0.64402	D	0.000001	T	0.54886	0.1886	L	0.43152	1.355	0.80722	D	1	P;D	0.89917	0.681;1.0	B;D	0.91635	0.345;0.999	T	0.40831	-0.9542	10	0.20046	T	0.44	-9.0139	15.3472	0.74346	0.0:1.0:0.0:0.0	.	453;191	Q96GQ5;Q96GQ5-2	CP058_HUMAN;.	N	453;407	ENSP00000317579:D453N	ENSP00000317579:D453N	D	-	1	0	C16orf58	31409707	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.442000	0.59988	2.688000	0.91661	0.655000	0.94253	GAT		0.612	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		20	71	0	0	0	0	20	71				
CSNK2A2	1459	broad.mit.edu	37	16	58198043	58198043	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:58198043C>A	ENST00000262506.3	-	11	1168	c.985G>T	c.(985-987)Gtg>Ttg	p.V329L	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	329					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)	1						TGCTCCTTCACCACAGGGTCT	0.547																																					Melanoma(54;119 1219 18349 35700 39738)	uc002enc.2		NA																	0				central_nervous_system(1)	1						c.(985-987)GTG>TTG		casein kinase 2, alpha prime polypeptide							99.0	82.0	88.0					16																	58198043		2198	4300	6498	SO:0001583	missense	1459				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr16:58198043C>A	M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.985G>T	16.37:g.58198043C>A	ENSP00000262506:p.Val329Leu						p.V329L	NM_001896	NP_001887	P19784	CSK22_HUMAN			11	1127	-			329						Missense_Mutation	SNP	ENST00000262506.3	37	c.985G>T	CCDS10794.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036504	0.35893	.	.	ENSG00000070770	ENST00000262506	T	0.05996	3.36	5.91	5.91	0.95273	Protein kinase-like domain (1);	0.122490	0.56097	D	0.000032	T	0.06508	0.0167	N	0.16478	0.41	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39542	-0.9609	10	0.56958	D	0.05	-12.954	19.2867	0.94077	0.0:1.0:0.0:0.0	.	329	P19784	CSK22_HUMAN	L	329	ENSP00000262506:V329L	ENSP00000262506:V329L	V	-	1	0	CSNK2A2	56755544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.530000	0.53539	2.793000	0.96121	0.655000	0.94253	GTG		0.547	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257386.2	NM_001896		13	58	1	0	1.62e-10	3.06e-10	13	58				
CALB2	794	broad.mit.edu	37	16	71406097	71406097	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:71406097C>T	ENST00000302628.4	+	2	213	c.136C>T	c.(136-138)Caa>Taa	p.Q46*	CALB2_ENST00000349553.5_Nonsense_Mutation_p.Q46*	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	46	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AAACTTTTTCCAAGAGCTGGA	0.458																																						uc002faa.3		NA																	0					0						c.(136-138)CAA>TAA		calbindin 2 isoform 1							90.0	96.0	94.0					16																	71406097		2198	4300	6498	SO:0001587	stop_gained	794						calcium ion binding	g.chr16:71406097C>T	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.136C>T	16.37:g.71406097C>T	ENSP00000307508:p.Gln46*					CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Nonsense_Mutation_p.Q46*	p.Q46*	NM_001740	NP_001731	P22676	CALB2_HUMAN			2	206	+		Ovarian(137;0.125)	46			EF-hand 1.		A8K4Y1|Q53HD2|Q96BK4	Nonsense_Mutation	SNP	ENST00000302628.4	37	c.136C>T	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	C	36	5.635685	0.96682	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	.	.	.	5.79	5.79	0.91817	.	0.226367	0.45867	D	0.000325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-11.3568	14.3223	0.66493	0.1491:0.8509:0.0:0.0	.	.	.	.	X	46	.	ENSP00000307508:Q46X	Q	+	1	0	CALB2	69963598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.657000	0.54474	2.707000	0.92482	0.655000	0.94253	CAA		0.458	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		13	58	0	0	0	0	13	58				
USP10	9100	broad.mit.edu	37	16	84808830	84808830	+	Splice_Site	SNP	A	A	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr16:84808830A>T	ENST00000219473.7	+	13	2321	c.2208A>T	c.(2206-2208)gcA>gcT	p.A736A	USP10_ENST00000570191.1_Splice_Site_p.A740A	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	736	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGCTCTTTGCAGGTGAGTAAA	0.403																																						uc002fii.2		NA																	0					0						c.(2206-2208)GCA>GCT		ubiquitin specific protease 10							71.0	68.0	69.0					16																	84808830		1844	4096	5940	SO:0001630	splice_region_variant	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84808830A>T	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.2209+1A>T	16.37:g.84808830A>T						USP10_uc010voe.1_Silent_p.A740A|USP10_uc010vof.1_Silent_p.A298A|USP10_uc002fij.2_Silent_p.A262A	p.A736A	NM_005153	NP_005144	Q14694	UBP10_HUMAN			13	2350	+			736					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	c.2208A>T	CCDS45537.1																																																																																				0.403	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1		Silent	19	58	0	0	0	0	19	58				
USP6	9098	broad.mit.edu	37	17	5036229	5036229	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:5036229A>G	ENST00000574788.1	+	13	2450	c.220A>G	c.(220-222)Acg>Gcg	p.T74A	USP6_ENST00000332776.4_Missense_Mutation_p.T74A|USP6_ENST00000250066.6_Missense_Mutation_p.T74A|USP6_ENST00000572429.1_3'UTR|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	74					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GATGACACGAACGAGCAAGTG	0.532			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1		NA		Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		0				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(220-222)ACG>GCG		ubiquitin specific protease 6							159.0	179.0	172.0					17																	5036229		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5036229A>G	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.220A>G	17.37:g.5036229A>G	ENSP00000460380:p.Thr74Ala					USP6_uc002gav.1_Missense_Mutation_p.T74A|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.2_Missense_Mutation_p.T135A|uc002gay.1_5'Flank	p.T74A	NM_004505	NP_004496	P35125	UBP6_HUMAN			13	2450	+			74					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.220A>G	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	A	2.157	-0.393117	0.04899	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.27557	1.66;1.66	0.0465	0.0465	0.14256	Rab-GAP/TBC domain (1);	0.175187	0.50627	D	0.000105	T	0.15392	0.0371	N	0.13272	0.32	0.80722	D	1	B;B	0.15930	0.015;0.001	B;B	0.09377	0.004;0.0	T	0.06162	-1.0842	9	0.42905	T	0.14	.	.	.	.	.	74;74	B9A6N0;P35125	.;UBP6_HUMAN	A	74	ENSP00000328010:T74A;ENSP00000250066:T74A	ENSP00000250066:T74A	T	+	1	0	USP6	4976953	0.705000	0.27846	0.002000	0.10522	0.002000	0.02628	0.413000	0.21148	0.115000	0.18071	0.113000	0.15668	ACG		0.532	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		3	153	0	0	0	0	3	153				
BCL6B	255877	broad.mit.edu	37	17	6930932	6930932	+	Silent	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:6930932G>T	ENST00000293805.5	+	9	1526	c.1434G>T	c.(1432-1434)ggG>ggT	p.G478G		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	478					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						TTCTCGGGGGGCCCTAGCTGA	0.622																																						uc002geg.2		NA																	0				skin(1)	1						c.(1432-1434)GGG>GGT		B-cell CLL/lymphoma 6, member B (zinc finger							48.0	53.0	51.0					17																	6930932		1978	4160	6138	SO:0001819	synonymous_variant	255877					nucleus	zinc ion binding	g.chr17:6930932G>T	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.1434G>T	17.37:g.6930932G>T						BCL6B_uc010clt.1_Silent_p.G479G	p.G478G	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN			9	1491	+			478					Q6PCB4	Silent	SNP	ENST00000293805.5	37	c.1434G>T	CCDS42248.1																																																																																				0.622	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		11	48	1	0	1.62e-10	3.06e-10	11	48				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	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		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	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.chr17:7578406C>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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; 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	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	36	0	0	0	0	13	36				
NTN1	9423	broad.mit.edu	37	17	9143248	9143248	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:9143248A>G	ENST00000173229.2	+	7	1885	c.1778A>G	c.(1777-1779)cAg>cGg	p.Q593R	NTN1_ENST00000546090.1_Missense_Mutation_p.Q593R|NTN1_ENST00000538852.1_Missense_Mutation_p.Q593R	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	593	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CGCAAGTTCCAGCAGCGTGAG	0.721																																						uc002glw.3		NA																	0					0						c.(1777-1779)CAG>CGG		netrin 1 precursor							16.0	17.0	17.0					17																	9143248		2195	4287	6482	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:9143248A>G	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1778A>G	17.37:g.9143248A>G	ENSP00000173229:p.Gln593Arg						p.Q593R	NM_004822	NP_004813	O95631	NET1_HUMAN			7	1885	+			593			NTR.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.1778A>G	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107877	0.77096	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	T;T;T	0.22539	1.95;1.95;1.95	4.08	4.08	0.47627	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	M	0.76002	2.32	0.46542	D	0.999099	P	0.46277	0.875	P	0.51895	0.683	T	0.15954	-1.0419	10	0.13108	T	0.6	.	12.7049	0.57056	1.0:0.0:0.0:0.0	.	593	O95631	NET1_HUMAN	R	593	ENSP00000173229:Q593R;ENSP00000443259:Q593R;ENSP00000441611:Q593R	ENSP00000173229:Q593R	Q	+	2	0	NTN1	9083973	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.721000	0.91446	1.491000	0.48482	0.346000	0.21813	CAG		0.721	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1			3	13	0	0	0	0	3	13				
MYH13	8735	broad.mit.edu	37	17	10213055	10213055	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:10213055C>A	ENST00000418404.3	-	33	4912	c.4749G>T	c.(4747-4749)aaG>aaT	p.K1583N	MYH13_ENST00000252172.4_Missense_Mutation_p.K1583N|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1583					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTCTTCATCCTTCTCAATGA	0.562																																						uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(4747-4749)AAG>AAT		myosin, heavy polypeptide 13, skeletal muscle							45.0	46.0	46.0					17																	10213055		2085	4226	6311	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10213055C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4749G>T	17.37:g.10213055C>A	ENSP00000404570:p.Lys1583Asn						p.K1583N	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			34	4839	-			1583			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4749G>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447103	0.43429	.	.	ENSG00000006788	ENST00000252172	D	0.85088	-1.94	4.56	3.59	0.41128	Myosin tail (1);	.	.	.	.	D	0.92414	0.7592	M	0.91249	3.19	0.34818	D	0.738441	D	0.67145	0.996	D	0.72625	0.978	D	0.93971	0.7249	9	0.87932	D	0	.	7.9955	0.30265	0.0:0.7318:0.0:0.2682	.	1583	Q9UKX3	MYH13_HUMAN	N	1583	ENSP00000252172:K1583N	ENSP00000252172:K1583N	K	-	3	2	MYH13	10153780	0.943000	0.32029	1.000000	0.80357	0.616000	0.37450	0.097000	0.15168	1.060000	0.40578	-0.355000	0.07637	AAG		0.562	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		3	7	1	0	6.4e-05	0.00011009	3	7				
NOS2	4843	broad.mit.edu	37	17	26107912	26107912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:26107912C>T	ENST00000313735.6	-	9	1118	c.885G>A	c.(883-885)tgG>tgA	p.W295*		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	295					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	ACTTGGGCTTCCAGCCCAGGT	0.627																																						uc002gzu.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(883-885)TGG>TGA		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						51.0	50.0	50.0					17																	26107912		2203	4300	6503	SO:0001587	stop_gained	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26107912C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.885G>A	17.37:g.26107912C>T	ENSP00000327251:p.Trp295*					NOS2_uc010crh.1_Nonsense_Mutation_p.W295*|NOS2_uc010wab.1_Nonsense_Mutation_p.W295*	p.W295*	NM_000625	NP_000616	P35228	NOS2_HUMAN			9	1149	-			295					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Nonsense_Mutation	SNP	ENST00000313735.6	37	c.885G>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	40	8.249258	0.98724	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0142	0.89233	0.0:1.0:0.0:0.0	.	.	.	.	X	295;270;295	.	ENSP00000305638:W295X	W	-	3	0	NOS2	23132039	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.089000	0.71384	2.465000	0.83290	0.655000	0.94253	TGG		0.627	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		11	39	0	0	0	0	11	39				
LRRC46	90506	broad.mit.edu	37	17	45914142	45914142	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:45914142C>A	ENST00000269025.4	+	8	985	c.622C>A	c.(622-624)Ctg>Atg	p.L208M		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	208										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGAGCAGGAGCTGAGCAGGCA	0.687																																						uc002ima.2		NA																	0				ovary(1)	1						c.(622-624)CTG>ATG		leucine rich repeat containing 46							28.0	34.0	32.0					17																	45914142		2203	4300	6503	SO:0001583	missense	90506							g.chr17:45914142C>A		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.622C>A	17.37:g.45914142C>A	ENSP00000269025:p.Leu208Met					LRRC46_uc002imb.2_Missense_Mutation_p.L161M	p.L208M	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN			8	878	+			208			Potential.		A8K9Q0	Missense_Mutation	SNP	ENST00000269025.4	37	c.622C>A	CCDS11518.1	.	.	.	.	.	.	.	.	.	.	C	7.058	0.565897	0.13560	.	.	ENSG00000141294	ENST00000269025	T	0.75589	-0.95	5.33	-1.88	0.07713	.	0.527310	0.17328	N	0.178223	T	0.48059	0.1479	N	0.03016	-0.435	0.09310	N	1	B;B	0.28082	0.2;0.2	B;B	0.22152	0.038;0.038	T	0.21280	-1.0250	10	0.28530	T	0.3	-0.7902	16.972	0.86302	0.1935:0.8065:0.0:0.0	.	208;208	A8K9Q0;Q96FV0	.;LRC46_HUMAN	M	208	ENSP00000269025:L208M	ENSP00000269025:L208M	L	+	1	2	LRRC46	43269141	0.011000	0.17503	0.028000	0.17463	0.527000	0.34593	-0.015000	0.12634	-0.240000	0.09696	-0.280000	0.10049	CTG		0.687	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413		5	41	1	0	0.00116845	0.00195658	5	41				
NFE2L1	4779	broad.mit.edu	37	17	46135825	46135825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:46135825G>T	ENST00000362042.3	+	6	1757	c.1141G>T	c.(1141-1143)Gag>Tag	p.E381*	RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000357480.5_Nonsense_Mutation_p.E351*|NFE2L1_ENST00000536222.1_Nonsense_Mutation_p.E225*|NFE2L1_ENST00000361665.3_Nonsense_Mutation_p.E370*|NFE2L1_ENST00000582155.1_Nonsense_Mutation_p.E193*|NFE2L1_ENST00000583378.1_Nonsense_Mutation_p.E182*|NFE2L1_ENST00000585291.1_Nonsense_Mutation_p.E351*	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	381					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTCAGCCCCGAGGTGGAAAG	0.607																																						uc002imz.3		NA																	0				skin(1)	1						c.(1141-1143)GAG>TAG		nuclear factor erythroid 2-like 1							83.0	87.0	86.0					17																	46135825		2203	4300	6503	SO:0001587	stop_gained	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46135825G>T	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1141G>T	17.37:g.46135825G>T	ENSP00000354855:p.Glu381*					NFE2L1_uc002ina.3_Nonsense_Mutation_p.E351*|NFE2L1_uc002inb.3_Nonsense_Mutation_p.E351*|NFE2L1_uc010wle.1_Nonsense_Mutation_p.E193*|NFE2L1_uc010wlf.1_Nonsense_Mutation_p.E225*	p.E381*	NM_003204	NP_003195	Q14494	NF2L1_HUMAN			6	1792	+			381					D3DTU3|D3DTU5|Q12877|Q96FN6	Nonsense_Mutation	SNP	ENST00000362042.3	37	c.1141G>T	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961645	0.92791	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	.	.	.	5.5	5.5	0.81552	.	0.363112	0.30043	N	0.010558	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-32.5539	16.3177	0.82934	0.0:0.0:1.0:0.0	.	.	.	.	X	400;381;351;225	.	ENSP00000350072:E351X	E	+	1	0	NFE2L1	43490824	1.000000	0.71417	0.965000	0.40720	0.980000	0.70556	4.912000	0.63335	2.588000	0.87417	0.555000	0.69702	GAG		0.607	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		32	85	1	0	9.78e-22	1.97e-21	32	85				
TTLL6	284076	broad.mit.edu	37	17	46867429	46867429	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:46867429C>T	ENST00000393382.3	-	10	1405	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	TTLL6_ENST00000433608.2_Missense_Mutation_p.D115N	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ACCTCTTTATCCAACCGAGAG	0.512																																						uc010wlo.1		NA																	0					0						c.(1264-1266)GAT>AAT		tubulin tyrosine ligase-like family, member 6							113.0	103.0	106.0					17																	46867429		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46867429C>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1264G>A	17.37:g.46867429C>T	ENSP00000377043:p.Asp422Asn					TTLL6_uc002iob.2_Missense_Mutation_p.D115N|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.D175N|TTLL6_uc002iod.2_Missense_Mutation_p.D269N	p.D422N	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN			11	1299	-			374			TTL.			Missense_Mutation	SNP	ENST00000393382.3	37	c.1264G>A	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671257	0.88348	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.63	5.63	0.86233	ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.87450	0.6180	H	0.94658	3.565	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.90230	0.4278	9	0.87932	D	0	.	18.8174	0.92081	0.0:1.0:0.0:0.0	.	374;175;115	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	N	422;115;100;374	.	ENSP00000302547:D115N	D	-	1	0	TTLL6	44222428	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	7.487000	0.81328	2.815000	0.96918	0.561000	0.74099	GAT		0.512	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		19	68	0	0	0	0	19	68				
C17orf47	284083	broad.mit.edu	37	17	56620420	56620420	+	Silent	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:56620420G>C	ENST00000321691.3	-	1	1309	c.1128C>G	c.(1126-1128)acC>acG	p.T376T	RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	376										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGTTTTTGGGTTTGCTGTT	0.493																																						uc002iwq.1		NA																	0				breast(1)	1						c.(1126-1128)ACC>ACG		hypothetical protein LOC284083							146.0	133.0	138.0					17																	56620420		2203	4300	6503	SO:0001819	synonymous_variant	284083							g.chr17:56620420G>C		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1128C>G	17.37:g.56620420G>C						SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	p.T376T	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN			1	1264	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		376					Q8N821	Silent	SNP	ENST00000321691.3	37	c.1128C>G	CCDS32691.1																																																																																				0.493	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		13	61	0	0	0	0	13	61				
ERN1	2081	broad.mit.edu	37	17	62122729	62122729	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:62122729G>A	ENST00000433197.3	-	20	2738	c.2643C>T	c.(2641-2643)ccC>ccT	p.P881P		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTGTCTGGAGGGGGACAGTGA	0.562																																						uc002jdz.2		NA																	0				central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						c.(2641-2643)CCC>CCT		endoplasmic reticulum to nucleus signalling 1							60.0	64.0	63.0					17																	62122729		2039	4204	6243	SO:0001819	synonymous_variant	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62122729G>A	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2643C>T	17.37:g.62122729G>A							p.P881P	NM_001433	NP_001424	O75460	ERN1_HUMAN			20	2756	-			881			Cytoplasmic (Potential).|KEN.			Silent	SNP	ENST00000433197.3	37	c.2643C>T	CCDS45762.1																																																																																				0.562	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		6	37	0	0	0	0	6	37				
CEP112	201134	broad.mit.edu	37	17	64059084	64059084	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:64059084T>A	ENST00000392769.2	-	11	1289	c.1071A>T	c.(1069-1071)aaA>aaT	p.K357N	CEP112_ENST00000541355.1_5'UTR|CEP112_ENST00000537949.1_Missense_Mutation_p.K315N|CEP112_ENST00000535342.2_Missense_Mutation_p.K357N	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	357					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						AGCTTACCTTTTTTTCCCAGT	0.299																																						uc002jfl.2		NA																	0					0						c.(1069-1071)AAA>AAT		coiled-coil domain containing 46 isoform a							115.0	109.0	111.0					17																	64059084		2201	4296	6497	SO:0001583	missense	201134					centrosome		g.chr17:64059084T>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1071A>T	17.37:g.64059084T>A	ENSP00000376522:p.Lys357Asn					CCDC46_uc010deo.2_Missense_Mutation_p.K99N|CCDC46_uc002jfm.2_Missense_Mutation_p.K357N|CCDC46_uc010dep.2_Missense_Mutation_p.K315N	p.K357N	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		11	1290	-			357			Potential.		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.1071A>T	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.634372	0.67130	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.55234	0.53;0.53;0.55	5.45	1.95	0.26073	.	0.051651	0.85682	D	0.000000	T	0.63534	0.2519	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.71870	0.964;0.964;0.975	T	0.58640	-0.7601	10	0.46703	T	0.11	-24.6029	8.3923	0.32535	0.0:0.3094:0.0:0.6906	.	315;315;357	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	N	357;357;315	ENSP00000442784:K357N;ENSP00000376522:K357N;ENSP00000440775:K315N	ENSP00000376522:K357N	K	-	3	2	CEP112	61489546	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	1.409000	0.34680	0.036000	0.15547	0.477000	0.44152	AAA		0.299	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		7	35	0	0	0	0	7	35				
GPR142	350383	broad.mit.edu	37	17	72368159	72368159	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:72368159C>T	ENST00000335666.4	+	4	857	c.809C>T	c.(808-810)tCg>tTg	p.S270L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	270						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CGGGCCGCCTCGTCCCCAGGC	0.657																																						uc010wqy.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(808-810)TCG>TTG		G protein-coupled receptor 142							53.0	44.0	47.0					17																	72368159		2201	4300	6501	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368159C>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.809C>T	17.37:g.72368159C>T	ENSP00000335158:p.Ser270Leu					GPR142_uc010wqx.1_Missense_Mutation_p.S182L	p.S270L	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			4	809	+			270			Cytoplasmic (Potential).		A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.809C>T	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117994	0.56505	.	.	ENSG00000257008	ENST00000335666	T	0.35236	1.32	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.175811	0.50627	D	0.000101	T	0.59032	0.2164	M	0.64997	1.995	0.39246	D	0.96394	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.59354	-0.7470	10	0.45353	T	0.12	-11.2329	18.8605	0.92270	0.0:1.0:0.0:0.0	.	270;1232	Q7Z601;Q8NGB0	GP142_HUMAN;.	L	270	ENSP00000335158:S270L	ENSP00000335158:S270L	S	+	2	0	GPR142	69879754	1.000000	0.71417	0.106000	0.21319	0.530000	0.34684	4.008000	0.57103	2.708000	0.92522	0.650000	0.86243	TCG		0.657	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		5	24	0	0	0	0	5	24				
GPRC5C	55890	broad.mit.edu	37	17	72443133	72443133	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:72443133C>G	ENST00000392627.1	+	4	2553	c.1427C>G	c.(1426-1428)tCt>tGt	p.S476C	GPRC5C_ENST00000342648.5_Missense_Mutation_p.S116C|GPRC5C_ENST00000392629.2_Missense_Mutation_p.S443C|GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000582873.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	431					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)	p.S443C(1)|p.S476C(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GGCAAGAACTCTCAGGTCTTT	0.652																																						uc002jks.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						c.(1291-1293)TCT>TGT		G protein-coupled receptor family C, group 5,							76.0	84.0	81.0					17																	72443133		2203	4300	6503	SO:0001583	missense	55890					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72443133C>G	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1427C>G	17.37:g.72443133C>G	ENSP00000376403:p.Ser476Cys					GPRC5C_uc002jkp.2_Missense_Mutation_p.S476C|GPRC5C_uc002jkq.2_3'UTR|GPRC5C_uc002jkr.2_Missense_Mutation_p.S443C|GPRC5C_uc002jkt.2_Missense_Mutation_p.S431C|GPRC5C_uc002jku.2_Missense_Mutation_p.S186C	p.S431C	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN			3	1331	+			431			Cytoplasmic (Potential).		B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.1292C>G	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.006062	0.35415	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.20069	2.1	5.72	3.72	0.42706	.	0.242885	0.36444	N	0.002597	T	0.33206	0.0855	L	0.40543	1.245	0.19575	N	0.999966	D;P;P;D	0.89917	1.0;0.938;0.938;0.963	D;P;B;P	0.73380	0.98;0.541;0.436;0.639	T	0.05666	-1.0871	10	0.87932	D	0	-22.387	9.1033	0.36683	0.0:0.7754:0.1465:0.0782	.	142;431;431;443	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	C	431;476;142;443;431	ENSP00000376405:S443C	ENSP00000262616:S142C	S	+	2	0	GPRC5C	69954728	0.070000	0.21116	0.704000	0.30370	0.054000	0.15201	0.866000	0.27954	0.771000	0.33359	-0.175000	0.13238	TCT		0.652	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			16	91	0	0	0	0	16	91				
CASKIN2	57513	broad.mit.edu	37	17	73498200	73498200	+	Silent	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:73498200C>A	ENST00000321617.3	-	18	3541	c.2955G>T	c.(2953-2955)acG>acT	p.T985T	CASKIN2_ENST00000433559.2_Silent_p.T903T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	985	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTCTGATTCCGTGAGGTTGA	0.667																																						uc002joc.2		NA																	0				pancreas(1)	1						c.(2953-2955)ACG>ACT		cask-interacting protein 2 isoform a							22.0	32.0	29.0					17																	73498200		2164	4254	6418	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73498200C>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2955G>T	17.37:g.73498200C>A						CASKIN2_uc010wsc.1_Silent_p.T903T	p.T985T	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3505	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		985			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.2955G>T	CCDS11723.1																																																																																				0.667	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		17	71	1	0	4.97e-08	9.2e-08	17	71				
EPB41L3	23136	broad.mit.edu	37	18	5397146	5397146	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr18:5397146C>G	ENST00000341928.2	-	18	3092	c.2752G>C	c.(2752-2754)Gag>Cag	p.E918Q	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E918Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E749Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E696Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E696Q|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E223Q|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E215Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	918	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCGGCTGTCTCTTCCTGTTCC	0.522																																						uc002kmt.1		NA																	0				ovary(5)	5						c.(2752-2754)GAG>CAG		erythrocyte membrane protein band 4.1-like 3							112.0	92.0	99.0					18																	5397146		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397146C>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2752G>C	18.37:g.5397146C>G	ENSP00000343158:p.Glu918Gln					EPB41L3_uc010wzh.1_Missense_Mutation_p.E749Q|EPB41L3_uc002kmu.1_Missense_Mutation_p.E696Q|EPB41L3_uc010dkq.1_Missense_Mutation_p.E587Q|EPB41L3_uc002kms.1_Missense_Mutation_p.E153Q|EPB41L3_uc010wze.1_Missense_Mutation_p.E223Q|EPB41L3_uc010wzf.1_Missense_Mutation_p.E215Q|EPB41L3_uc010wzg.1_Missense_Mutation_p.E190Q|EPB41L3_uc010dkr.2_Missense_Mutation_p.E310Q	p.E918Q	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			18	2838	-			918			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2752G>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	3.348	-0.133104	0.06711	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.87	4.02	0.46733	.	1.085000	0.06816	N	0.791310	T	0.36166	0.0957	N	0.15975	0.35	0.20764	N	0.999851	B;B;B;B;B;B;B;B	0.22983	0.014;0.078;0.036;0.003;0.001;0.001;0.003;0.021	B;B;B;B;B;B;B;B	0.26770	0.013;0.057;0.073;0.006;0.002;0.004;0.004;0.007	T	0.30119	-0.9989	10	0.19147	T	0.46	.	14.7235	0.69326	0.0:0.7154:0.2846:0.0	.	749;215;223;310;587;696;918;153	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	Q	918;587;749;587;215;223;918;696	ENSP00000343158:E918Q;ENSP00000441174:E749Q;ENSP00000392195:E215Q;ENSP00000442233:E223Q;ENSP00000341138:E918Q;ENSP00000382981:E696Q	ENSP00000343158:E918Q	E	-	1	0	EPB41L3	5387146	0.783000	0.28701	0.005000	0.12908	0.056000	0.15407	2.550000	0.45811	0.755000	0.32990	0.591000	0.81541	GAG		0.522	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		6	136	0	0	0	0	6	136				
TMEM241	85019	broad.mit.edu	37	18	20979546	20979546	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr18:20979546C>G	ENST00000383233.3	-	4	315	c.263G>C	c.(262-264)aGa>aCa	p.R88T	TMEM241_ENST00000399707.1_Missense_Mutation_p.R62T|TMEM241_ENST00000450466.2_Intron|TMEM241_ENST00000542162.1_Missense_Mutation_p.R88T	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	88						integral component of membrane (GO:0016021)											GGACAATGCTCTGGACCCAGC	0.443																																						uc002kuf.2		NA																	0					0						c.(262-264)AGA>ACA		hypothetical protein LOC85019							143.0	136.0	138.0					18																	20979546		2203	4300	6503	SO:0001583	missense	85019					integral to membrane		g.chr18:20979546C>G	BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"""chromosome 18 open reading frame 45"""	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.263G>C	18.37:g.20979546C>G	ENSP00000372720:p.Arg88Thr					C18orf45_uc010xaq.1_Intron|C18orf45_uc010xar.1_RNA|C18orf45_uc002kug.2_RNA|C18orf45_uc002kuh.2_RNA	p.R88T	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN			4	372	-	all_cancers(21;0.000238)|all_epithelial(16;5.29e-06)|Lung NSC(20;0.00925)|Colorectal(14;0.0202)|all_lung(20;0.0255)|Ovarian(20;0.127)		88					I0J130|Q6ZTS7|Q6ZW41	Missense_Mutation	SNP	ENST00000383233.3	37	c.263G>C	CCDS11876.2	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482372	0.26598	.	.	ENSG00000134490	ENST00000383233;ENST00000542162;ENST00000399707	T;T;T	0.41400	1.0;1.0;1.0	5.36	4.48	0.54585	.	0.062767	0.64402	D	0.000004	T	0.45115	0.1326	M	0.66939	2.045	0.33819	D	0.628838	P	0.51791	0.948	P	0.48982	0.597	T	0.56631	-0.7947	10	0.19147	T	0.46	-18.9635	9.1799	0.37134	0.0:0.8966:0.0:0.1034	.	88	Q24JQ0	CR045_HUMAN	T	88;88;62	ENSP00000372720:R88T;ENSP00000440152:R88T;ENSP00000382615:R62T	ENSP00000372720:R88T	R	-	2	0	C18orf45	19233544	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.993000	0.49425	1.230000	0.43646	0.563000	0.77884	AGA		0.443	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254702.3	NM_032933		8	69	0	0	0	0	8	69				
ZNF521	25925	broad.mit.edu	37	18	22806305	22806305	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr18:22806305G>C	ENST00000361524.3	-	4	1725	c.1577C>G	c.(1576-1578)tCt>tGt	p.S526C	ZNF521_ENST00000538137.2_Missense_Mutation_p.S526C|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.S306C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	526					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTCCAGGGAAGAGTCAGTGAG	0.468			T	PAX5	ALL																																	uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(1576-1578)TCT>TGT		zinc finger protein 521							74.0	80.0	78.0					18																	22806305		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806305G>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1577C>G	18.37:g.22806305G>C	ENSP00000354794:p.Ser526Cys					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S526C|ZNF521_uc002kvl.2_Missense_Mutation_p.S306C	p.S526C	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1824	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		526			C2H2-type 12.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1577C>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384218	0.25031	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.33654	1.4;1.4	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.165254	0.56097	D	0.000031	T	0.46639	0.1403	L	0.27053	0.805	0.43381	D	0.995482	P	0.52577	0.954	P	0.58577	0.841	T	0.34850	-0.9812	10	0.52906	T	0.07	-18.871	20.2227	0.98327	0.0:0.0:1.0:0.0	.	526	Q96K83	ZN521_HUMAN	C	526;560;526	ENSP00000354794:S526C;ENSP00000382352:S526C	ENSP00000354794:S526C	S	-	2	0	ZNF521	21060303	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.778000	0.95560	0.650000	0.86243	TCT		0.468	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		7	70	0	0	0	0	7	70				
MOCOS	55034	broad.mit.edu	37	18	33828964	33828964	+	Splice_Site	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr18:33828964G>T	ENST00000261326.5	+	10	2060		c.e10+1			NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTGCTGACAGGTGAGACTCTG	0.473																																						uc002kzq.3		NA																	0				skin(1)	1						c.e10+1		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						79.0	74.0	76.0					18																	33828964		2203	4300	6503	SO:0001630	splice_region_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33828964G>T	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.2039+1G>T	18.37:g.33828964G>T							p.R680_splice	NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN			10	2062	+									Splice_Site	SNP	ENST00000261326.5	37	c.2039_splice	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124075	0.77436	.	.	ENSG00000075643	ENST00000261326	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4206	0.67180	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MOCOS	32082962	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.856000	0.69518	2.458000	0.83093	0.561000	0.74099	.		0.473	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1		Intron	7	21	1	0	8.13e-05	0.000138603	7	21				
FAM69C	125704	broad.mit.edu	37	18	72103843	72103843	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr18:72103843G>C	ENST00000343998.6	-	4	1161	c.1153C>G	c.(1153-1155)Cct>Gct	p.P385A	FAM69C_ENST00000400291.2_Missense_Mutation_p.P86A	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	385						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						GGGACCCCAGGGTCTGCACAT	0.587																																						uc002llk.2		NA																	0					0						c.(1153-1155)CCT>GCT		hypothetical protein LOC125704							27.0	31.0	30.0					18																	72103843		1904	4123	6027	SO:0001583	missense	125704					endoplasmic reticulum membrane|integral to membrane		g.chr18:72103843G>C	BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"""chromosome 18 open reading frame 51"""	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.1153C>G	18.37:g.72103843G>C	ENSP00000344331:p.Pro385Ala						p.P385A	NM_001044369	NP_001037834	Q0P6D2	FA69C_HUMAN			4	1162	-			385			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000343998.6	37	c.1153C>G	CCDS42445.2	.	.	.	.	.	.	.	.	.	.	G	8.124	0.781596	0.16120	.	.	ENSG00000187773	ENST00000400291;ENST00000343998	.	.	.	4.41	2.54	0.30619	.	0.459427	0.24532	N	0.037710	T	0.29158	0.0725	L	0.59436	1.845	0.09310	N	1	B	0.22480	0.07	B	0.19148	0.024	T	0.34650	-0.9820	9	0.02654	T	1	-5.9174	5.7365	0.18069	0.1771:0.1609:0.6619:0.0	.	385	Q0P6D2	FA69C_HUMAN	A	86;385	.	ENSP00000344331:P385A	P	-	1	0	FAM69C	70254823	0.826000	0.29277	0.002000	0.10522	0.014000	0.08584	1.148000	0.31614	0.407000	0.25591	0.460000	0.39030	CCT		0.587	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346971.2	XM_058931		6	21	0	0	0	0	6	21				
POLRMT	5442	broad.mit.edu	37	19	619032	619032	+	Missense_Mutation	SNP	C	C	T	rs370808958		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:619032C>T	ENST00000588649.2	-	15	3316	c.3232G>A	c.(3232-3234)Gtc>Atc	p.V1078I	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1078	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGGATGACGGGGACGCCC	0.632																																						uc002lpf.1		NA																	0				ovary(1)|pancreas(1)	2						c.(3232-3234)GTC>ATC		mitochondrial DNA-directed RNA polymerase		C	ILE/VAL	0,4392		0,0,2196	54.0	47.0	50.0		3232	-3.1	0.0	19		50	1,8593		0,1,4296	no	missense	POLRMT	NM_005035.3	29	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	benign	1078/1231	619032	1,12985	2196	4297	6493	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:619032C>T		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3232G>A	19.37:g.619032C>T	ENSP00000465759:p.Val1078Ile						p.V1078I	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	3288	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	1078			Mediates interaction with TEFM.		O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.3232G>A	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.815833	0.00595	0.0	1.16E-4	ENSG00000099821	ENST00000215591	T	0.55760	0.5	4.35	-3.08	0.05347	.	0.300406	0.34435	N	0.003976	T	0.26122	0.0637	N	0.15975	0.35	0.25593	N	0.986671	B	0.12630	0.006	B	0.15870	0.014	T	0.29941	-0.9995	10	0.07813	T	0.8	-24.7737	10.8056	0.46516	0.0:0.4671:0.0:0.5329	.	1078	O00411	RPOM_HUMAN	I	1078	ENSP00000215591:V1078I	ENSP00000215591:V1078I	V	-	1	0	POLRMT	570032	0.002000	0.14202	0.018000	0.16275	0.013000	0.08279	-0.127000	0.10547	-1.033000	0.03299	-0.518000	0.04402	GTC		0.632	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		4	19	0	0	0	0	4	19				
ABCA7	10347	broad.mit.edu	37	19	1043352	1043352	+	Silent	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:1043352G>C	ENST00000263094.6	+	9	1041	c.810G>C	c.(808-810)ctG>ctC	p.L270L	ABCA7_ENST00000433129.1_Silent_p.L270L|ABCA7_ENST00000435683.2_Silent_p.L132L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	270					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.L270L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCGGAGCTGATTGGAGCCC	0.627																																						uc002lqw.3		NA																	1	Substitution - coding silent(1)	p.L270L(1)	pancreas(1)	pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(808-810)CTG>CTC		ATP-binding cassette, sub-family A, member 7							41.0	51.0	48.0					19																	1043352		2203	4299	6502	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043352G>C	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.810G>C	19.37:g.1043352G>C						ABCA7_uc010dsb.1_Silent_p.L132L	p.L270L	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1041	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	270			Extracellular (By similarity).		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.810G>C	CCDS12055.1																																																																																				0.627	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		12	79	0	0	0	0	12	79				
FZR1	51343	broad.mit.edu	37	19	3527705	3527705	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:3527705G>A	ENST00000395095.3	+	6	547	c.547G>A	c.(547-549)Gag>Aag	p.E183K	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000441788.2_Missense_Mutation_p.E183K	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	183					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACGCGCCCGAGCTGCAGGA	0.632																																						uc010dtk.2		NA																	0				lung(1)|kidney(1)	2						c.(547-549)GAG>AAG		Fzr1 protein isoform 1							118.0	95.0	103.0					19																	3527705		2200	4298	6498	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3527705G>A	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.547G>A	19.37:g.3527705G>A	ENSP00000378529:p.Glu183Lys					FZR1_uc002lxt.2_Missense_Mutation_p.E183K|FZR1_uc002lxv.2_Intron	p.E183K	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	6	581	+			183			WD 1.		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.547G>A	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	G	35	5.445497	0.96187	.	.	ENSG00000105325	ENST00000441788;ENST00000395095	T;T	0.28895	1.59;1.59	5.14	5.14	0.70334	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	M	0.87381	2.88	0.80722	D	1	P;B	0.37612	0.602;0.395	B;B	0.31101	0.097;0.124	T	0.52756	-0.8533	10	0.56958	D	0.05	-56.1256	17.2027	0.86910	0.0:0.0:1.0:0.0	.	183;183	Q9UM11;Q9UM11-2	FZR_HUMAN;.	K	183	ENSP00000410369:E183K;ENSP00000378529:E183K	ENSP00000378529:E183K	E	+	1	0	FZR1	3478705	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	9.571000	0.98176	2.399000	0.81585	0.655000	0.94253	GAG		0.632	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		6	42	0	0	0	0	6	42				
SEMA6B	10501	broad.mit.edu	37	19	4548323	4548323	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:4548323G>C	ENST00000586582.1	-	13	1716	c.1406C>G	c.(1405-1407)tCt>tGt	p.S469C	SEMA6B_ENST00000301293.3_Missense_Mutation_p.S469C|RN7SL121P_ENST00000584223.1_RNA|SEMA6B_ENST00000586965.1_Missense_Mutation_p.S469C	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	469	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGAGCCCAGACGTCCCTGA	0.647																																						uc010duc.1		NA																	0				skin(1)	1						c.(1405-1407)TCT>TGT		semaphorin 6B precursor							52.0	52.0	52.0					19																	4548323		2203	4300	6503	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4548323G>C	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1406C>G	19.37:g.4548323G>C	ENSP00000467290:p.Ser469Cys					SEMA6B_uc010dud.2_Missense_Mutation_p.S469C|SEMA6B_uc010xih.1_Missense_Mutation_p.S469C	p.S469C	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1444	-		Hepatocellular(1079;0.137)	469			Extracellular (Potential).|Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.1406C>G	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	11.69	1.714487	0.30413	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.12465	2.68	4.01	4.01	0.46588	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	8.881020	0.00575	U	0.000318	T	0.37320	0.0999	L	0.56280	1.765	0.09310	N	1	P;P	0.51791	0.948;0.708	P;P	0.61874	0.895;0.722	T	0.44590	-0.9318	10	0.59425	D	0.04	.	14.9113	0.70758	0.0:0.0:1.0:0.0	.	469;469	B4DT36;Q9H3T3	.;SEM6B_HUMAN	C	469	ENSP00000301293:S469C	ENSP00000301292:S469C	S	-	2	0	SEMA6B	4499323	0.101000	0.21875	0.025000	0.17156	0.180000	0.23129	2.906000	0.48735	2.086000	0.62901	0.485000	0.47835	TCT		0.647	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		8	61	0	0	0	0	8	61				
FEM1A	55527	broad.mit.edu	37	19	4792971	4792971	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:4792971G>A	ENST00000269856.3	+	1	1244	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	AC005523.2_ENST00000601192.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	369					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CGACCCGGATGAGATGCGCAT	0.632																																						uc002mbf.2		NA																	0					0						c.(1105-1107)GAG>AAG		fem-1 homolog a							50.0	51.0	51.0					19																	4792971		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4792971G>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1105G>A	19.37:g.4792971G>A	ENSP00000269856:p.Glu369Lys					uc002mbg.1_RNA	p.E369K	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1244	+		Hepatocellular(1079;0.137)	369					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1105G>A	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594924	0.66219	.	.	ENSG00000141965	ENST00000269856	T	0.68479	-0.33	4.88	4.88	0.63580	.	0.069054	0.56097	U	0.000023	T	0.73118	0.3546	M	0.84683	2.71	0.80722	D	1	P	0.36222	0.544	B	0.42555	0.391	T	0.72218	-0.4357	10	0.08599	T	0.76	-23.0229	18.0399	0.89316	0.0:0.0:1.0:0.0	.	369	Q9BSK4	FEM1A_HUMAN	K	369	ENSP00000269856:E369K	ENSP00000269856:E369K	E	+	1	0	FEM1A	4743971	1.000000	0.71417	0.969000	0.41365	0.796000	0.44982	9.634000	0.98435	2.249000	0.74217	0.491000	0.48974	GAG		0.632	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			16	61	0	0	0	0	16	61				
MUC16	94025	broad.mit.edu	37	19	9056573	9056573	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:9056573G>A	ENST00000397910.4	-	3	31076	c.30873C>T	c.(30871-30873)acC>acT	p.T10291T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10293	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAACTCCAGTGGTGGCAAATG	0.517																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(30871-30873)ACC>ACT		mucin 16							103.0	103.0	103.0					19																	9056573		2068	4208	6276	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056573G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30873C>T	19.37:g.9056573G>A							p.T10291T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	31077	-			10293			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30873C>T	CCDS54212.1																																																																																				0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	92	0	0	0	0	10	92				
MUC16	94025	broad.mit.edu	37	19	9068476	9068476	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:9068476C>T	ENST00000397910.4	-	3	19173	c.18970G>A	c.(18970-18972)Gac>Aac	p.D6324N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6326	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTATATGGGTCTGAGTCAGGT	0.443																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(18970-18972)GAC>AAC		mucin 16							163.0	152.0	156.0					19																	9068476		1983	4173	6156	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068476C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18970G>A	19.37:g.9068476C>T	ENSP00000381008:p.Asp6324Asn						p.D6324N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	19174	-			6326			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18970G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.895	0.534609	0.13188	.	.	ENSG00000181143	ENST00000397910	T	0.21543	2.0	2.41	1.33	0.21861	.	.	.	.	.	T	0.10465	0.0256	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.11329	0.006	T	0.12630	-1.0540	8	0.87932	D	0	.	6.9986	0.24797	0.0:0.7132:0.2868:0.0	.	6324	B5ME49	.	N	6324	ENSP00000381008:D6324N	ENSP00000381008:D6324N	D	-	1	0	MUC16	8929476	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-1.225000	0.02956	0.557000	0.29117	0.195000	0.17529	GAC		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	79	0	0	0	0	9	79				
ZNF136	7695	broad.mit.edu	37	19	12297490	12297490	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:12297490G>A	ENST00000343979.4	+	4	437	c.297G>A	c.(295-297)gtG>gtA	p.V99V	ZNF136_ENST00000398616.2_Silent_p.V33V	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	99					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TCCCTGGAGTGAAACTCTGTG	0.398																																						uc002mti.2		NA																	0				ovary(1)|pancreas(1)	2						c.(295-297)GTG>GTA		zinc finger protein 136							100.0	96.0	98.0					19																	12297490		2203	4300	6503	SO:0001819	synonymous_variant	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12297490G>A	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.297G>A	19.37:g.12297490G>A						ZNF136_uc010xmh.1_Silent_p.V33V	p.V99V	NM_003437	NP_003428	P52737	ZN136_HUMAN			4	397	+			99						Silent	SNP	ENST00000343979.4	37	c.297G>A	CCDS32916.1																																																																																				0.398	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		5	33	0	0	0	0	5	33				
LPHN1	22859	broad.mit.edu	37	19	14262129	14262129	+	Silent	SNP	A	A	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:14262129A>C	ENST00000340736.6	-	24	4278	c.3981T>G	c.(3979-3981)ggT>ggG	p.G1327G	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1322G	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1327					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGGTCAGCACCCCCGGGCC	0.716																																						uc010xnn.1		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(3979-3981)GGT>GGG		latrophilin 1 isoform 1 precursor							5.0	6.0	6.0					19																	14262129		2111	4119	6230	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14262129A>C	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3981T>G	19.37:g.14262129A>C						LPHN1_uc010xno.1_Silent_p.G1322G|uc002myf.2_Intron	p.G1327G	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			24	4277	-			1327			Cytoplasmic (Potential).		Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.3981T>G	CCDS32928.1																																																																																				0.716	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		6	8	0	0	0	0	6	8				
ZNF85	7639	broad.mit.edu	37	19	21132951	21132951	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:21132951G>A	ENST00000328178.8	+	4	1744	c.1631G>A	c.(1630-1632)gGc>gAc	p.G544D	ZNF85_ENST00000601023.1_Missense_Mutation_p.G485D|ZNF85_ENST00000345030.6_Missense_Mutation_p.G511D	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	544					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)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAAGAATGTGGCAAAGCCTTT	0.348																																						uc002npg.3		NA																	0				central_nervous_system(1)	1						c.(1630-1632)GGC>GAC		zinc finger protein 85							33.0	37.0	36.0					19																	21132951		2186	4288	6474	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132951G>A	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1631G>A	19.37:g.21132951G>A	ENSP00000329793:p.Gly544Asp					ZNF85_uc010ecn.2_Missense_Mutation_p.G479D|ZNF85_uc010eco.2_Missense_Mutation_p.G492D|ZNF85_uc002npi.2_Missense_Mutation_p.G485D	p.G544D	NM_003429	NP_003420	Q03923	ZNF85_HUMAN			4	1758	+			544			C2H2-type 15.		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.1631G>A	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	10.40	1.338429	0.24253	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.07021	3.23;4.9	1.35	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20700	0.0498	L	0.57536	1.79	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.92	D;D;P	0.91635	0.999;0.999;0.679	T	0.00901	-1.1521	9	0.49607	T	0.09	.	9.5712	0.39429	0.0:0.0:1.0:0.0	.	511;485;544	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	D	544;511;419	ENSP00000329793:G544D;ENSP00000342340:G511D	ENSP00000329793:G544D	G	+	2	0	ZNF85	20924791	0.999000	0.42202	0.263000	0.24496	0.442000	0.32017	1.224000	0.32539	0.681000	0.31386	0.462000	0.41574	GGC		0.348	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		5	41	0	0	0	0	5	41				
ZNF98	148198	broad.mit.edu	37	19	22575547	22575547	+	Missense_Mutation	SNP	G	G	A	rs371639044		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:22575547G>A	ENST00000357774.5	-	4	611	c.490C>T	c.(490-492)Cat>Tat	p.H164Y		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GAAAATTTATGAAAGACTTTC	0.313																																						uc002nqt.2		NA																	0				ovary(1)|skin(1)	2						c.(490-492)CAT>TAT		zinc finger protein 98							33.0	32.0	32.0					19																	22575547		2029	4219	6248	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22575547G>A		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.490C>T	19.37:g.22575547G>A	ENSP00000350418:p.His164Tyr						p.H164Y	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			4	612	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	164						Missense_Mutation	SNP	ENST00000357774.5	37	c.490C>T	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	0.516	-0.864394	0.02590	.	.	ENSG00000197360	ENST00000357774	T	0.50001	0.76	1.28	-2.56	0.06268	.	.	.	.	.	T	0.30947	0.0781	L	0.41824	1.3	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.26189	-1.0110	9	0.17832	T	0.49	.	5.4819	0.16729	0.0:0.3764:0.4336:0.19	.	164	A6NK75	ZNF98_HUMAN	Y	164	ENSP00000350418:H164Y	ENSP00000350418:H164Y	H	-	1	0	ZNF98	22367387	0.000000	0.05858	0.005000	0.12908	0.155000	0.21991	-0.011000	0.12721	-0.946000	0.03677	0.305000	0.20034	CAT		0.313	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		3	7	0	0	0	0	3	7				
ZNF536	9745	broad.mit.edu	37	19	31039948	31039948	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:31039948C>G	ENST00000355537.3	+	4	3569	c.3422C>G	c.(3421-3423)tCt>tGt	p.S1141C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1141					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGGCCCACTCTGAAGAGGAT	0.542																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(3421-3423)TCT>TGT		zinc finger protein 536							72.0	70.0	71.0					19																	31039948		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039948C>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3422C>G	19.37:g.31039948C>G	ENSP00000347730:p.Ser1141Cys					ZNF536_uc010edd.1_Missense_Mutation_p.S1141C	p.S1141C	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3560	+	Esophageal squamous(110;0.0834)		1141					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3422C>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	6.083	0.383660	0.11524	.	.	ENSG00000198597	ENST00000355537	T	0.09350	2.99	5.59	1.02	0.19986	.	0.963263	0.08616	N	0.919144	T	0.07638	0.0192	N	0.19112	0.55	0.09310	N	1	P;P	0.47106	0.89;0.89	B;B	0.39185	0.293;0.293	T	0.38329	-0.9666	10	0.48119	T	0.1	0.3872	10.6279	0.45519	0.0:0.7377:0.0:0.2623	.	1141;1141	A7E228;O15090	.;ZN536_HUMAN	C	1141	ENSP00000347730:S1141C	ENSP00000347730:S1141C	S	+	2	0	ZNF536	35731788	0.000000	0.05858	0.020000	0.16555	0.545000	0.35147	0.514000	0.22786	0.313000	0.23062	0.655000	0.94253	TCT		0.542	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	38	0	0	0	0	6	38				
CHST8	64377	broad.mit.edu	37	19	34263714	34263714	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:34263714G>A	ENST00000262622.4	+	4	1779	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	CHST8_ENST00000434302.1_Missense_Mutation_p.D341N|CHST8_ENST00000438847.3_Missense_Mutation_p.D341N	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	341					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CTGCCTCATCGACTACGATTT	0.607																																						uc002nus.3		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(1021-1023)GAC>AAC		carbohydrate (N-acetylgalactosamine 4-0)							73.0	56.0	62.0					19																	34263714		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263714G>A	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.1021G>A	19.37:g.34263714G>A	ENSP00000262622:p.Asp341Asn					CHST8_uc002nut.3_Missense_Mutation_p.D341N|CHST8_uc002nuu.2_Missense_Mutation_p.D341N	p.D341N	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN			5	1526	+	Esophageal squamous(110;0.162)		341			Lumenal (Potential).		Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.1021G>A	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	5.187	0.220042	0.09863	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.74526	-0.85;-0.85;-0.85	5.01	3.96	0.45880	.	0.199092	0.43260	N	0.000596	T	0.54711	0.1875	N	0.10916	0.065	0.43740	D	0.996231	B	0.31879	0.344	B	0.37508	0.252	T	0.50329	-0.8841	10	0.06494	T	0.89	-15.2489	12.3767	0.55283	0.0823:0.0:0.9177:0.0	.	341	Q9H2A9	CHST8_HUMAN	N	341	ENSP00000392604:D341N;ENSP00000393879:D341N;ENSP00000262622:D341N	ENSP00000262622:D341N	D	+	1	0	CHST8	38955554	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	3.959000	0.56744	1.104000	0.41587	0.297000	0.19635	GAC		0.607	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		13	34	0	0	0	0	13	34				
ZNF565	147929	broad.mit.edu	37	19	36673999	36673999	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:36673999C>T	ENST00000355114.5	-	5	1715	c.989G>A	c.(988-990)cGt>cAt	p.R330H	ZNF565_ENST00000392173.2_Missense_Mutation_p.R290H|ZNF565_ENST00000304116.5_Missense_Mutation_p.R290H			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R290P(1)		large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TTGGGAGCCACGAATGAAAGC	0.502																																						uc002odn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(868-870)CGT>CAT		zinc finger protein 565							94.0	83.0	87.0					19																	36673999		2203	4300	6503	SO:0001583	missense	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673999C>T	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.989G>A	19.37:g.36673999C>T	ENSP00000347234:p.Arg330His					ZNF565_uc010ees.2_Missense_Mutation_p.R225H|ZNF565_uc002odo.2_Missense_Mutation_p.R290H	p.R290H	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	977	-	Esophageal squamous(110;0.162)		290			C2H2-type 5.		B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37	c.869G>A		.	.	.	.	.	.	.	.	.	.	c	7.777	0.708628	0.15239	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.05580	3.42;3.42;3.42	4.27	2.14	0.27477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39985	N	0.001214	T	0.03871	0.0109	L	0.33137	0.985	0.09310	N	1	B	0.29232	0.238	B	0.13407	0.009	T	0.40156	-0.9578	10	0.25751	T	0.34	.	5.4122	0.16354	0.0:0.6743:0.0:0.3257	.	290	Q8N9K5	ZN565_HUMAN	H	290;290;330	ENSP00000376013:R290H;ENSP00000306869:R290H;ENSP00000347234:R330H	ENSP00000306869:R290H	R	-	2	0	ZNF565	41365839	0.000000	0.05858	0.996000	0.52242	0.004000	0.04260	-0.033000	0.12246	1.151000	0.42436	0.585000	0.79938	CGT		0.502	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		14	81	0	0	0	0	14	81				
ZNF345	25850	broad.mit.edu	37	19	37367985	37367985	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:37367985A>G	ENST00000529555.1	+	2	1041	c.253A>G	c.(253-255)Act>Gct	p.T85A	ZNF345_ENST00000589046.1_Missense_Mutation_p.T85A|ZNF345_ENST00000420450.1_Missense_Mutation_p.T85A|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	85					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCGAATTCATACTGGTGAGAA	0.403																																						uc002oex.2		NA																	0				ovary(1)	1						c.(253-255)ACT>GCT		zinc finger protein 345							94.0	99.0	98.0					19																	37367985		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37367985A>G	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.253A>G	19.37:g.37367985A>G	ENSP00000431202:p.Thr85Ala					ZNF345_uc002oey.3_Missense_Mutation_p.T85A|ZNF345_uc002oez.2_Intron	p.T85A	NM_003419	NP_003410	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	631	+	Esophageal squamous(110;0.183)		85						Missense_Mutation	SNP	ENST00000529555.1	37	c.253A>G	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.058750	0.55325	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000331800	T;T;T	0.26518	1.73;1.73;1.73	4.28	3.26	0.37387	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19005	0.0456	L	0.38692	1.165	0.22796	N	0.998729	B	0.26935	0.164	B	0.27500	0.08	T	0.12426	-1.0548	8	.	.	.	.	7.7223	0.28740	0.8947:0.0:0.1053:0.0	.	85	Q14585	ZN345_HUMAN	A	85	ENSP00000431216:T85A;ENSP00000431202:T85A;ENSP00000331120:T85A	.	T	+	1	0	ZNF345	42059825	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.067000	0.14510	1.902000	0.55061	0.533000	0.62120	ACT		0.403	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			6	38	0	0	0	0	6	38				
ZNF45	7596	broad.mit.edu	37	19	44417888	44417888	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:44417888C>A	ENST00000269973.5	-	10	2790	c.1700G>T	c.(1699-1701)cGg>cTg	p.R567L	ZNF45_ENST00000589703.1_Missense_Mutation_p.R567L|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	567					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATTGGAGGCCCGACAGAAGCC	0.517																																						uc002oxu.1		NA																	0				ovary(1)	1						c.(1699-1701)CGG>CTG		zinc finger protein 45							116.0	117.0	117.0					19																	44417888		2203	4300	6503	SO:0001583	missense	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44417888C>A	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1700G>T	19.37:g.44417888C>A	ENSP00000269973:p.Arg567Leu					ZNF45_uc002oxw.1_Missense_Mutation_p.R567L|ZNF45_uc002oxv.1_Missense_Mutation_p.R567L	p.R567L	NM_003425	NP_003416	Q02386	ZNF45_HUMAN			4	1799	-			567			C2H2-type 15.		P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	c.1700G>T	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858498	0.17178	.	.	ENSG00000124459	ENST00000269973	T	0.15017	2.46	3.73	2.69	0.31865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.250565	0.20361	N	0.093852	T	0.10508	0.0257	L	0.45285	1.41	0.30984	N	0.722193	P	0.51537	0.946	B	0.40982	0.345	T	0.03641	-1.1017	10	0.11794	T	0.64	-11.6838	4.3425	0.11117	0.0:0.6796:0.0:0.3204	.	567	Q02386	ZNF45_HUMAN	L	567	ENSP00000269973:R567L	ENSP00000269973:R567L	R	-	2	0	ZNF45	49109728	0.000000	0.05858	0.991000	0.47740	0.992000	0.81027	-0.698000	0.05092	2.087000	0.62958	0.455000	0.32223	CGG		0.517	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		17	85	1	0	3.41e-10	6.43e-10	17	85				
MYADM	91663	broad.mit.edu	37	19	54377171	54377171	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:54377171C>A	ENST00000391769.2	+	3	668	c.388C>A	c.(388-390)Cac>Aac	p.H130N	MYADM_ENST00000391771.1_Missense_Mutation_p.H130N|MYADM_ENST00000336967.3_Missense_Mutation_p.H130N|MYADM_ENST00000391770.4_Missense_Mutation_p.H130N|MYADM_ENST00000391768.2_Missense_Mutation_p.H130N|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	130	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GTTCCTGTCCCACGGCCGTTC	0.662																																						uc002qcl.2		NA																	0				ovary(1)	1						c.(388-390)CAC>AAC		myeloid-associated differentiation marker							89.0	86.0	87.0					19																	54377171		2203	4300	6503	SO:0001583	missense	91663					integral to membrane		g.chr19:54377171C>A	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.388C>A	19.37:g.54377171C>A	ENSP00000375649:p.His130Asn					MYADM_uc002qcm.2_Missense_Mutation_p.H130N|MYADM_uc002qcn.2_Missense_Mutation_p.H130N|MYADM_uc002qco.2_Missense_Mutation_p.H130N|MYADM_uc002qcp.2_Missense_Mutation_p.H130N	p.H130N	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	536	+	Ovarian(34;0.19)		130			MARVEL 1.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	c.388C>A	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	C	2.784	-0.252882	0.05829	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000448420;ENST00000439000;ENST00000391771;ENST00000391769;ENST00000391768;ENST00000414489	T;T;T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82	4.21	1.78	0.24846	Marvel (1);MARVEL-like domain (1);	0.415730	0.22648	N	0.057370	T	0.15825	0.0381	N	0.14661	0.345	0.09310	N	1	P	0.48589	0.912	P	0.50049	0.629	T	0.05616	-1.0874	10	0.28530	T	0.3	-21.4563	2.4666	0.04554	0.1982:0.502:0.1923:0.1075	.	130	Q96S97	MYADM_HUMAN	N	130	ENSP00000398269:H130N;ENSP00000337222:H130N;ENSP00000375650:H130N;ENSP00000399722:H130N;ENSP00000416919:H130N;ENSP00000375651:H130N;ENSP00000375649:H130N;ENSP00000375648:H130N;ENSP00000404958:H130N	ENSP00000337222:H130N	H	+	1	0	MYADM	59068983	0.000000	0.05858	0.009000	0.14445	0.255000	0.26057	0.128000	0.15810	0.866000	0.35629	0.313000	0.20887	CAC		0.662	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		20	98	1	0	7.45e-12	1.46e-11	20	98				
LILRB5	10990	broad.mit.edu	37	19	54756392	54756392	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:54756392C>T	ENST00000316219.5	-	10	1599	c.1492G>A	c.(1492-1494)Ggg>Agg	p.G498R	LILRB5_ENST00000345866.6_Missense_Mutation_p.G399R|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000449561.2_Missense_Mutation_p.G499R|LILRB5_ENST00000450632.1_Missense_Mutation_p.G490R	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	498					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCGCAGCCCCTGCAGGACGG	0.607																																						uc002qex.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1492-1494)GGG>AGG		leukocyte immunoglobulin-like receptor,							89.0	86.0	87.0					19																	54756392		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54756392C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1492G>A	19.37:g.54756392C>T	ENSP00000320390:p.Gly498Arg					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.G490R|LILRB5_uc002qey.2_Missense_Mutation_p.G499R|LILRB5_uc002qez.2_Missense_Mutation_p.G399R|LILRB5_uc002qfa.1_3'UTR	p.G498R	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1603	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		498			Cytoplasmic (Potential).		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1492G>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148428	0.37923	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00510	7.01;6.9;6.96;6.95	1.91	1.91	0.25777	.	.	.	.	.	T	0.00524	0.0017	L	0.53729	1.69	0.09310	N	1	P;P;B;P	0.46277	0.875;0.511;0.018;0.5	B;B;B;B	0.41440	0.357;0.317;0.015;0.178	T	0.54111	-0.8342	9	0.46703	T	0.11	.	7.3327	0.26592	0.0:1.0:0.0:0.0	.	490;399;499;498	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	R	498;490;499;399	ENSP00000320390:G498R;ENSP00000414225:G490R;ENSP00000406478:G499R;ENSP00000263430:G399R	ENSP00000320390:G498R	G	-	1	0	LILRB5	59448204	0.009000	0.17119	0.057000	0.19452	0.005000	0.04900	0.494000	0.22467	1.360000	0.45960	0.460000	0.39030	GGG		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			8	76	0	0	0	0	8	76				
LILRA1	11024	broad.mit.edu	37	19	55106219	55106219	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:55106219G>A	ENST00000251372.3	+	4	342	c.160G>A	c.(160-162)Gag>Aag	p.E54K	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.E54K|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	54	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGGGATCCTGGAGACCCAGGA	0.577																																						uc002qgh.1		NA																	0				skin(2)|ovary(1)	3						c.(160-162)GAG>AAG		leukocyte immunoglobulin-like receptor,							101.0	99.0	100.0					19																	55106219		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106219G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.160G>A	19.37:g.55106219G>A	ENSP00000251372:p.Glu54Lys					LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.E54K	p.E54K	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	342	+			54			Ig-like C2-type 1.|Extracellular (Potential).		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.160G>A	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	7.191	0.591623	0.13812	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.11821	2.74;2.74	1.58	-0.807	0.10872	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.878297	0.09717	N	0.764904	T	0.13243	0.0321	M	0.66439	2.03	0.09310	N	1	B;B	0.25486	0.127;0.019	B;B	0.23716	0.048;0.027	T	0.33523	-0.9865	10	0.48119	T	0.1	.	3.2373	0.06768	0.1878:0.2717:0.5405:0.0	.	54;54	O75019-2;O75019	.;LIRA1_HUMAN	K	54	ENSP00000251372:E54K;ENSP00000413715:E54K	ENSP00000251372:E54K	E	+	1	0	LILRA1	59798031	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.546000	0.00114	-0.158000	0.11040	-1.188000	0.01700	GAG		0.577	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		19	91	0	0	0	0	19	91				
LILRB1	10859	broad.mit.edu	37	19	55148286	55148286	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:55148286C>T	ENST00000396331.1	+	16	2267	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F	LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.S688F|LILRB1_ENST00000418536.2_Missense_Mutation_p.S621F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S639F|LILRB1_ENST00000396332.4_Missense_Mutation_p.S638F|LILRB1_ENST00000396317.1_Missense_Mutation_p.S621F|LILRB1_ENST00000462628.1_3'UTR|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000434867.2_Missense_Mutation_p.S637F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S639F|LILRB1_ENST00000396321.2_Missense_Mutation_p.S637F|LILRB1_ENST00000396327.3_Missense_Mutation_p.S638F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	637					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GAAGGGCCCTCTCCAGCTGTG	0.642										HNSCC(37;0.09)																												uc002qgj.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1909-1911)TCT>TTT		leukocyte immunoglobulin-like receptor,							89.0	77.0	81.0					19																	55148286		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55148286C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1910C>T	19.37:g.55148286C>T	ENSP00000379622:p.Ser637Phe	HNSCC(37;0.09)				LILRB1_uc002qgl.2_Missense_Mutation_p.S638F|LILRB1_uc002qgk.2_Missense_Mutation_p.S638F|LILRB1_uc002qgm.2_Missense_Mutation_p.S639F|LILRB1_uc010erq.2_Missense_Mutation_p.S621F|LILRB1_uc010err.2_RNA	p.S637F	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	16	2250	+			637			Cytoplasmic (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1910C>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	7.331	0.618864	0.14129	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00492	7.09;7.07;7.09;7.06;7.05;7.09;7.09;7.01;7.07;7.05	1.79	0.718	0.18202	.	.	.	.	.	T	0.00552	0.0018	N	0.22421	0.69	0.09310	N	1	P;D;B;D;D	0.55385	0.604;0.963;0.429;0.963;0.971	B;P;B;P;P	0.56823	0.252;0.807;0.372;0.807;0.736	T	0.57195	-0.7853	9	0.87932	D	0	.	4.0395	0.09745	0.0:0.7737:0.0:0.2263	.	621;639;638;638;637	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	F	637;621;637;638;639;637;638;688;621;639	ENSP00000379614:S637F;ENSP00000391514:S621F;ENSP00000379622:S637F;ENSP00000379618:S638F;ENSP00000315997:S639F;ENSP00000405243:S637F;ENSP00000379623:S638F;ENSP00000395004:S688F;ENSP00000379610:S621F;ENSP00000379608:S639F	ENSP00000315997:S639F	S	+	2	0	LILRB1	59840098	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.321000	0.19558	0.334000	0.23590	0.194000	0.17425	TCT		0.642	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			17	47	0	0	0	0	17	47				
PXDN	7837	broad.mit.edu	37	2	1664703	1664703	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:1664703G>C	ENST00000252804.4	-	14	1837	c.1787C>G	c.(1786-1788)gCc>gGc	p.A596G		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	596	Ig-like C2-type 4.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTGTTCCGGGCCACACACTC	0.522																																						uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(1786-1788)GCC>GGC		peroxidasin precursor							97.0	102.0	100.0					2																	1664703		2059	4190	6249	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1664703G>C	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1787C>G	2.37:g.1664703G>C	ENSP00000252804:p.Ala596Gly					PXDN_uc002qxb.1_Missense_Mutation_p.A596G	p.A596G	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	14	1851	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	596			Ig-like C2-type 4.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1787C>G	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.21|19.21	3.782746|3.782746	0.70222|0.70222	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.76709|.	-1.04|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.061993|.	0.64402|.	D|.	0.000005|.	D|D	0.86447|0.86447	0.5935|0.5935	M|M	0.92412|0.92412	3.305|3.305	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.994|.	D;D|.	0.79108|.	0.992;0.968|.	D|D	0.89673|0.89673	0.3885|0.3885	10|5	0.72032|.	D|.	0.01|.	-27.4962|-27.4962	18.7395|18.7395	0.91768|0.91768	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	596;596|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	G|A	596|592	ENSP00000252804:A596G|.	ENSP00000252804:A596G|.	A|P	-|-	2|1	0|0	PXDN|PXDN	1643710|1643710	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.110000|0.110000	0.19582|0.19582	9.700000|9.700000	0.98707|0.98707	2.508000|2.508000	0.84585|0.84585	0.591000|0.591000	0.81541|0.81541	GCC|CCC		0.522	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		5	57	0	0	0	0	5	57				
ADCY3	109	broad.mit.edu	37	2	25050956	25050956	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:25050956C>T	ENST00000260600.5	-	13	3098	c.2247G>A	c.(2245-2247)gaG>gaA	p.E749E	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Intron|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	749					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ACTTGGGGTTCTCCAGGCAGC	0.607											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rfs.3		NA																	0				breast(3)|ovary(1)	4						c.(2245-2247)GAG>GAA		adenylate cyclase 3							102.0	78.0	86.0					2																	25050956		2203	4300	6503	SO:0001819	synonymous_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25050956C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2247G>A	2.37:g.25050956C>T			OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	776	ADCY3_uc002rfr.3_Intron|ADCY3_uc010ykm.1_Silent_p.E749E	p.E749E	NM_004036	NP_004027	O60266	ADCY3_HUMAN			13	2446	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		749					B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.2247G>A	CCDS1715.1																																																																																				0.607	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			6	36	0	0	0	0	6	36				
MAPRE3	22924	broad.mit.edu	37	2	27247054	27247054	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:27247054G>C	ENST00000233121.2	+	4	556	c.358G>C	c.(358-360)Gat>Cat	p.D120H	MAPRE3_ENST00000402218.1_Missense_Mutation_p.D120H|MAPRE3_ENST00000405074.3_Missense_Mutation_p.D120H			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	120					mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCAAACTATGATGGAAAGGA	0.413																																						uc002rhw.2		NA																	0				ovary(1)	1						c.(358-360)GAT>CAT		microtubule-associated protein, RP/EB family,							59.0	61.0	61.0					2																	27247054		2203	4300	6503	SO:0001583	missense	22924				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity	g.chr2:27247054G>C	Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.358G>C	2.37:g.27247054G>C	ENSP00000233121:p.Asp120His					MAPRE3_uc002rhx.2_Missense_Mutation_p.D120H	p.D120H	NM_012326	NP_036458	Q9UPY8	MARE3_HUMAN			4	511	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		120					B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Missense_Mutation	SNP	ENST00000233121.2	37	c.358G>C	CCDS1731.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040895	0.55003	.	.	ENSG00000084764	ENST00000233121;ENST00000405074;ENST00000458529;ENST00000402218	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.06	4.18	0.49190	Calponin homology domain (2);	0.107611	0.64402	D	0.000009	T	0.61825	0.2378	M	0.83118	2.625	0.80722	D	1	B;B	0.25772	0.134;0.046	P;B	0.47015	0.534;0.334	T	0.65721	-0.6099	10	0.87932	D	0	-13.7155	12.3702	0.55250	0.0832:0.0:0.9168:0.0	.	120;120	Q9UPY8-2;Q9UPY8	.;MARE3_HUMAN	H	120	ENSP00000233121:D120H;ENSP00000383915:D120H;ENSP00000391705:D120H;ENSP00000385715:D120H	ENSP00000233121:D120H	D	+	1	0	MAPRE3	27100558	1.000000	0.71417	0.997000	0.53966	0.038000	0.13279	7.879000	0.87236	1.136000	0.42199	0.655000	0.94253	GAT		0.413	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	NM_012326		7	34	0	0	0	0	7	34				
BIRC6	57448	broad.mit.edu	37	2	32667279	32667279	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:32667279C>T	ENST00000421745.2	+	18	4225	c.4091C>T	c.(4090-4092)tCa>tTa	p.S1364L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1364					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGAGTTCATTCAAATGGACCC	0.388																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(4090-4092)TCA>TTA		baculoviral IAP repeat-containing 6							60.0	60.0	60.0					2																	32667279		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32667279C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4091C>T	2.37:g.32667279C>T	ENSP00000393596:p.Ser1364Leu						p.S1364L	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			18	4225	+	Acute lymphoblastic leukemia(172;0.155)		1364					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.4091C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	8.231	0.804584	0.16467	.	.	ENSG00000115760	ENST00000421745	T	0.72394	-0.65	5.4	5.4	0.78164	.	0.086438	0.49305	D	0.000159	T	0.42720	0.1215	N	0.03608	-0.345	0.52099	D	0.999944	B	0.02656	0.0	B	0.06405	0.002	T	0.45614	-0.9249	10	0.02654	T	1	.	12.5123	0.56013	0.0:0.9238:0.0:0.0762	.	1364	Q9NR09	BIRC6_HUMAN	L	1364	ENSP00000393596:S1364L	ENSP00000393596:S1364L	S	+	2	0	BIRC6	32520783	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.730000	0.68546	2.520000	0.84964	0.637000	0.83480	TCA		0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		6	43	0	0	0	0	6	43				
HEATR5B	54497	broad.mit.edu	37	2	37217854	37217854	+	Silent	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:37217854G>C	ENST00000233099.5	-	34	5729	c.5634C>G	c.(5632-5634)gtC>gtG	p.V1878V	HEATR5B_ENST00000354531.2_Silent_p.V1789V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1878						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTAATGACTGGACTCCTATTA	0.373																																						uc002rpp.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(5632-5634)GTC>GTG		HEAT repeat containing 5B							124.0	114.0	117.0					2																	37217854		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37217854G>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5634C>G	2.37:g.37217854G>C						HEATR5B_uc002rpo.1_Silent_p.V190V|HEATR5B_uc010ezy.1_Silent_p.V373V	p.V1878V	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			34	5730	-		all_hematologic(82;0.21)	1878					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.5634C>G	CCDS33181.1																																																																																				0.373	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		10	47	0	0	0	0	10	47				
C2orf78	388960	broad.mit.edu	37	2	74041177	74041177	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:74041177C>G	ENST00000409561.1	+	2	792	c.671C>G	c.(670-672)tCc>tGc	p.S224C		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	224										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCTCAACTATCCTGCCTGCAA	0.483																																						uc002sjr.1		NA																	0				ovary(2)	2						c.(670-672)TCC>TGC		hypothetical protein LOC388960							73.0	71.0	72.0					2																	74041177		1972	4151	6123	SO:0001583	missense	388960							g.chr2:74041177C>G	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.671C>G	2.37:g.74041177C>G	ENSP00000387124:p.Ser224Cys						p.S224C	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			2	792	+			224						Missense_Mutation	SNP	ENST00000409561.1	37	c.671C>G	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	8.408	0.843549	0.16963	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	5.48	5.48	0.80851	.	0.644172	0.11715	U	0.536568	T	0.48295	0.1492	M	0.62723	1.935	0.09310	N	1	B	0.32382	0.368	B	0.28553	0.091	T	0.48559	-0.9025	9	0.62326	D	0.03	0.0076	15.2226	0.73324	0.0:1.0:0.0:0.0	.	224	A6NCI8	CB078_HUMAN	C	224	.	ENSP00000340692:S224C	S	+	2	0	C2orf78	73894685	0.109000	0.22037	0.060000	0.19600	0.017000	0.09413	3.062000	0.49971	2.745000	0.94114	0.655000	0.94253	TCC		0.483	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		18	74	0	0	0	0	18	74				
CTNNA2	1496	broad.mit.edu	37	2	80097015	80097016	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:80097015_80097016GG>TT	ENST00000402739.4	+	4	544_545	c.539_540GG>TT	c.(538-540)gGG>gTT	p.G180V	CTNNA2_ENST00000466387.1_Missense_Mutation_p.G180V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.G180V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.G180V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.G180V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.G214V	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	180					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAAGAGTTTGGGAAAGAGATGG	0.401																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(538-540)GGG>GTT		catenin, alpha 2 isoform 1																																				SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80097015_80097016GG>TT		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	Exception_encountered	2.37:g.80097015_80097016delinsTT	ENSP00000384638:p.Gly180Val					CTNNA2_uc010yse.1_Missense_Mutation_p.G180V|CTNNA2_uc010ysf.1_Missense_Mutation_p.G180V|CTNNA2_uc010ysg.1_Missense_Mutation_p.G180V	p.G180V	NM_004389	NP_004380	P26232	CTNA2_HUMAN			4	544_545	+			180					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	DNP	ENST00000402739.4	37	c.539_540GG>TT																																																																																					0.401	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		8	52	0	0	0	0	8	52				
LRRTM1	347730	broad.mit.edu	37	2	80530635	80530635	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:80530635C>G	ENST00000295057.3	-	2	966	c.310G>C	c.(310-312)Gtg>Ctg	p.V104L	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.V104L|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	104					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TCCCCCTGCACGGAGCAGATG	0.597										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(310-312)GTG>CTG		leucine rich repeat transmembrane neuronal 1							158.0	149.0	152.0					2																	80530635		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530635C>G	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.310G>C	2.37:g.80530635C>G	ENSP00000295057:p.Val104Leu	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.V104L	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	580	-			104			LRR 1.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.310G>C	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953978	0.73902	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811;ENST00000415098	T;T;T;T;D	0.87334	-0.97;-0.97;4.54;4.54;-2.24	4.78	4.78	0.61160	.	0.000000	0.64402	U	0.000001	D	0.87653	0.6231	N	0.17901	0.54	0.80722	D	1	D	0.64830	0.994	D	0.64687	0.928	D	0.86894	0.2050	9	.	.	.	.	17.8107	0.88614	0.0:1.0:0.0:0.0	.	104	Q86UE6	LRRT1_HUMAN	L	104	ENSP00000295057:V104L;ENSP00000386646:V104L;ENSP00000415368:V104L;ENSP00000389473:V104L;ENSP00000404557:V104L	.	V	-	1	0	LRRTM1	80384146	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.805000	0.86005	2.191000	0.70037	0.543000	0.68304	GTG		0.597	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		22	110	0	0	0	0	22	110				
GPAT2	150763	broad.mit.edu	37	2	96689186	96689186	+	Silent	SNP	G	G	A	rs577560612		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:96689186G>A	ENST00000434632.1	-	19	2358	c.1899C>T	c.(1897-1899)acC>acT	p.T633T	FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000453542.1_Silent_p.T562T|GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000359548.4_Silent_p.T633T			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	633					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GGGAGCCTGGGGTCTAGGGGC	0.567																																						uc002svf.2		NA																	0					0						c.(1897-1899)ACC>ACT		glycerol-3-phosphate acyltransferase 2,							38.0	35.0	36.0					2																	96689186		1982	4153	6135	SO:0001819	synonymous_variant	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96689186G>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1899C>T	2.37:g.96689186G>A						GPAT2_uc002svd.2_Silent_p.T452T|GPAT2_uc002sve.2_Silent_p.T435T|GPAT2_uc002svg.2_Silent_p.T512T|GPAT2_uc010yuh.1_Silent_p.T562T|GPAT2_uc002svh.2_Intron	p.T633T	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN			18	2122	-			633					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	ENST00000434632.1	37	c.1899C>T	CCDS42714.1																																																																																				0.567	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		10	41	0	0	0	0	10	41				
KYNU	8942	broad.mit.edu	37	2	143712377	143712377	+	Splice_Site	SNP	A	A	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:143712377A>G	ENST00000264170.4	+	5	631		c.e5-1		KYNU_ENST00000375773.2_Splice_Site|KYNU_ENST00000409512.1_Splice_Site	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TTTATTTTACAGGAGCCAATG	0.303																																						uc002tvl.2		NA																	0				skin(2)	2						c.e5-2		kynureninase (L-kynurenine hydrolase) isoform a	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						92.0	98.0	96.0					2																	143712377		2203	4298	6501	SO:0001630	splice_region_variant	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143712377A>G	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.374-1A>G	2.37:g.143712377A>G						KYNU_uc002tvk.2_Splice_Site_p.G125_splice|KYNU_uc010fnm.2_Splice_Site_p.G125_splice	p.G125_splice	NM_003937	NP_003928	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	5	504	+									Splice_Site	SNP	ENST00000264170.4	37	c.374_splice	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129826	0.77549	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3786	0.83431	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KYNU	143428847	1.000000	0.71417	0.995000	0.50966	0.915000	0.54546	8.512000	0.90538	2.323000	0.78572	0.528000	0.53228	.		0.303	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998	Intron	11	27	0	0	0	0	11	27				
ATP5G3	518	broad.mit.edu	37	2	176043799	176043799	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:176043799G>C	ENST00000284727.4	-	4	3324	c.300C>G	c.(298-300)atC>atG	p.I100M	Y_RNA_ENST00000363251.1_RNA|ATP5G3_ENST00000409194.1_Missense_Mutation_p.I100M|ATP5G3_ENST00000392541.3_Missense_Mutation_p.I100M	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	100					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CATAACCAATGATAAGGCTGC	0.413																																					GBM(30;387 605 18606 28805 47989)	uc002ujz.3		NA																	0				ovary(1)	1						c.(298-300)ATC>ATG		ATP synthase, H+ transporting, mitochondrial F0							104.0	98.0	100.0					2																	176043799		2203	4300	6503	SO:0001583	missense	518				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding	g.chr2:176043799G>C	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.300C>G	2.37:g.176043799G>C	ENSP00000284727:p.Ile100Met					ATP5G3_uc002uka.3_Missense_Mutation_p.I100M|ATP5G3_uc002ukb.1_Missense_Mutation_p.I100M	p.I100M	NM_001002258	NP_001002258	P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)		3	570	-			100			Helical; (Potential).		B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	ENST00000284727.4	37	c.300C>G	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173254	0.57584	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.49139	0.79;0.79;0.79	5.66	3.49	0.39957	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.60727	-0.7206	10	0.62326	D	0.03	-7.8008	8.22	0.31537	0.14:0.0:0.7226:0.1375	.	100	P48201	AT5G3_HUMAN	M	100	ENSP00000284727:I100M;ENSP00000387317:I100M;ENSP00000376324:I100M	ENSP00000284727:I100M	I	-	3	3	ATP5G3	175752045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.193000	0.50997	1.378000	0.46305	0.644000	0.83932	ATC		0.413	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	NM_001689		11	42	0	0	0	0	11	42				
OSBPL6	114880	broad.mit.edu	37	2	179259094	179259094	+	Silent	SNP	G	G	A	rs369599097		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:179259094G>A	ENST00000190611.4	+	24	3004	c.2628G>A	c.(2626-2628)gaG>gaA	p.E876E	OSBPL6_ENST00000359685.3_Silent_p.E840E|OSBPL6_ENST00000409045.3_Silent_p.E845E|OSBPL6_ENST00000315022.2_Silent_p.E880E|OSBPL6_ENST00000409631.1_Silent_p.E840E|OSBPL6_ENST00000392505.2_Silent_p.E901E	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	876					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AAAGAGTAGAGGAACTCCAGA	0.348																																						uc002ulx.2		NA																	0				pancreas(1)	1						c.(2626-2628)GAG>GAA		oxysterol-binding protein-like protein 6 isoform		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	114.0	129.0	124.0		2703,2535,2520,2628,2640	-2.0	1.0	2		124	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OSBPL6	NM_001201480.1,NM_001201481.1,NM_001201482.1,NM_032523.3,NM_145739.2	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	901/960,845/904,840/899,876/935,880/939	179259094	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114880				lipid transport		lipid binding	g.chr2:179259094G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2628G>A	2.37:g.179259094G>A						OSBPL6_uc002uly.2_Silent_p.E901E|OSBPL6_uc010zfe.1_Silent_p.E845E|OSBPL6_uc002ulz.2_Silent_p.E840E|OSBPL6_uc002uma.2_Silent_p.E880E	p.E876E	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		24	3006	+			876					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	c.2628G>A	CCDS2277.1																																																																																				0.348	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		22	66	0	0	0	0	22	66				
TTN	7273	broad.mit.edu	37	2	179579978	179579978	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:179579978G>A	ENST00000591111.1	-	88	25208	c.24984C>T	c.(24982-24984)ttC>ttT	p.F8328F	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.F7401F|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.F8645F			Q8WZ42	TITIN_HUMAN	titin	12502	Ig-like 66.				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)			GCTTTTTGCGGAAAATGGGTG	0.388																																						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.(22201-22203)TTC>TTT		titin isoform N2-A							101.0	91.0	94.0					2																	179579978		1841	4098	5939	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579978G>A	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.24984C>T	2.37:g.179579978G>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.F4062F	p.F7401F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		87	22427	-			8328					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.22203C>T																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	43	0	0	0	0	19	43				
FRZB	2487	broad.mit.edu	37	2	183731215	183731215	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:183731215G>A	ENST00000295113.4	-	1	675	c.66C>T	c.(64-66)ctC>ctT	p.L22L		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	22					brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGAGCAGGCAGAGAGCAGCCA	0.706																																						uc002upa.1		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(64-66)CTC>CTT		frizzled-related protein precursor							12.0	12.0	12.0					2																	183731215		2200	4290	6490	SO:0001819	synonymous_variant	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183731215G>A	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.66C>T	2.37:g.183731215G>A							p.L22L	NM_001463	NP_001454	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		1	284	-			22					O00181|Q99686	Silent	SNP	ENST00000295113.4	37	c.66C>T	CCDS2286.1																																																																																				0.706	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		4	5	0	0	0	0	4	5				
CFLAR	8837	broad.mit.edu	37	2	202005138	202005138	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:202005138C>T	ENST00000309955.3	+	5	1097	c.582C>T	c.(580-582)ctC>ctT	p.L194L	CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000494258.1_Silent_p.L98L|CFLAR_ENST00000479953.2_Silent_p.L98L|RNU7-45P_ENST00000459460.1_RNA|CFLAR_ENST00000340870.5_Silent_p.L194L|CFLAR_ENST00000440180.1_Silent_p.L194L|CFLAR_ENST00000341222.6_Silent_p.L194L|CFLAR_ENST00000443227.1_Silent_p.L98L|CFLAR_ENST00000355558.4_Silent_p.L194L|CFLAR_ENST00000423241.2_Silent_p.L194L|CFLAR_ENST00000457277.1_Silent_p.L194L|CFLAR-AS1_ENST00000474886.2_RNA|CFLAR_ENST00000341582.6_Silent_p.L194L|CFLAR_ENST00000342795.5_Silent_p.L194L	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	194	Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)	p.L194L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						AAAAGAGTCTCAAGGATCCTT	0.388																																					Pancreas(16;548 657 22190 32864 42338)	uc002uxb.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(580-582)CTC>CTT		CASP8 and FADD-like apoptosis regulator isoform							118.0	119.0	118.0					2																	202005138		2203	4300	6503	SO:0001819	synonymous_variant	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202005138C>T	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.582C>T	2.37:g.202005138C>T						CFLAR_uc002uwz.2_Silent_p.L194L|CFLAR_uc002uxa.3_Silent_p.L194L|CFLAR_uc010zhk.1_Silent_p.L98L|CFLAR_uc002uxc.3_Silent_p.L194L|CFLAR_uc010zhl.1_Silent_p.L98L|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Silent_p.L194L|CFLAR_uc002uxe.2_Silent_p.L194L|CFLAR_uc002uxf.2_Silent_p.L194L|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Silent_p.L194L|CFLAR_uc010zhm.1_Silent_p.L98L|CFLAR_uc010fsz.2_5'UTR|CFLAR_uc002uxg.2_5'UTR|uc002uxh.1_RNA	p.L194L	NM_003879	NP_003870	O15519	CFLAR_HUMAN			5	1034	+			194			Interaction with caspase-8 propeptide.|Interaction with FADD.|Interaction with caspase-3.|Not proteolytically processed and involved in apoptosis inhibition.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-8.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Silent	SNP	ENST00000309955.3	37	c.582C>T	CCDS2337.1																																																																																				0.388	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		13	38	0	0	0	0	13	38				
ING5	84289	broad.mit.edu	37	2	242662623	242662623	+	Splice_Site	SNP	A	A	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr2:242662623A>T	ENST00000313552.6	+	7	644		c.e7-1		ING5_ENST00000406941.1_Splice_Site|AC114730.11_ENST00000435195.1_RNA	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5						chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTTACTTTGCAGTGTCCAATT	0.522																																						uc002wcd.2		NA																	0					0						c.e7-2		inhibitor of growth family, member 5							248.0	240.0	243.0					2																	242662623		2203	4300	6503	SO:0001630	splice_region_variant	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242662623A>T	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.619-1A>T	2.37:g.242662623A>T							p.C207_splice	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	7	644	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)						A8K1P3|Q53NU6|Q57Z54|Q9BS30	Splice_Site	SNP	ENST00000313552.6	37	c.619_splice	CCDS33425.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961852	0.74016	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5978	0.76599	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ING5	242311296	1.000000	0.71417	0.998000	0.56505	0.841000	0.47740	8.199000	0.89731	2.091000	0.63221	0.523000	0.50628	.		0.522	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329	Intron	57	191	0	0	0	0	57	191				
CPXM1	56265	broad.mit.edu	37	20	2775946	2775946	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr20:2775946C>A	ENST00000380605.2	-	12	1901	c.1837G>T	c.(1837-1839)Gcc>Tcc	p.A613S		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	613					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.A613P(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTGAGGAGGGCGTCTTTGTTG	0.572																																						uc002wgu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1837-1839)GCC>TCC		carboxypeptidase X, member 1 precursor							116.0	103.0	107.0					20																	2775946		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2775946C>A	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1837G>T	20.37:g.2775946C>A	ENSP00000369979:p.Ala613Ser					CPXM1_uc010gas.2_Missense_Mutation_p.A539S	p.A613S	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN			12	1901	-			613					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1837G>T	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	7.404	0.633319	0.14322	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.03635	3.86	5.4	4.45	0.53987	Peptidase M14, carboxypeptidase A (1);	0.105207	0.64402	N	0.000003	T	0.02156	0.0067	N	0.02916	-0.46	0.41461	D	0.988044	B	0.30851	0.297	B	0.40066	0.318	T	0.48801	-0.9003	10	0.05620	T	0.96	-29.0088	10.9685	0.47426	0.3406:0.6594:0.0:0.0	.	613	Q96SM3	CPXM1_HUMAN	S	613;309	ENSP00000369979:A613S	ENSP00000369979:A613S	A	-	1	0	CPXM1	2723946	0.997000	0.39634	0.914000	0.36105	0.971000	0.66376	3.545000	0.53648	1.480000	0.48289	0.563000	0.77884	GCC		0.572	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		6	43	1	0	8.13e-05	0.000138603	6	43				
ADAM33	80332	broad.mit.edu	37	20	3655732	3655732	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr20:3655732T>A	ENST00000356518.2	-	4	516	c.275A>T	c.(274-276)tAc>tTc	p.Y92F	ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000350009.2_Missense_Mutation_p.Y92F|ADAM33_ENST00000379861.4_Missense_Mutation_p.Y92F	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	92					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGTTTCTATGTATCCTGGGGC	0.602																																						uc002wit.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(274-276)TAC>TTC		ADAM metallopeptidase domain 33 isoform alpha							49.0	50.0	50.0					20																	3655732		2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3655732T>A	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.275A>T	20.37:g.3655732T>A	ENSP00000348912:p.Tyr92Phe					ADAM33_uc002wir.1_Missense_Mutation_p.Y92F|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.Y92F|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.Y91F|ADAM33_uc010zqg.1_Missense_Mutation_p.Y91F|ADAM33_uc010zqh.1_Missense_Mutation_p.Y92F	p.Y92F	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			4	362	-			92			Extracellular (Potential).		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.275A>T	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.088810	0.76756	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000360630;ENST00000444535;ENST00000439201;ENST00000358035;ENST00000322570;ENST00000339622	T;T;T	0.05319	3.46;3.46;3.46	4.75	4.75	0.60458	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.16471	0.0396	L	0.41824	1.3	0.53688	D	0.999975	D;P;D;P;P;P	0.89917	0.984;0.922;1.0;0.944;0.955;0.955	P;P;D;P;P;P	0.87578	0.887;0.721;0.998;0.448;0.583;0.583	T	0.00972	-1.1495	9	0.46703	T	0.11	.	13.2326	0.59951	0.0:0.0:0.0:1.0	.	92;91;91;92;92;92	B4DTZ3;B4E1Y6;Q7Z7E1;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;.;ADA33_HUMAN;.	F	92;92;92;91;92;92;92;91;91	ENSP00000348912:Y92F;ENSP00000369190:Y92F;ENSP00000322550:Y92F	ENSP00000318839:Y91F	Y	-	2	0	ADAM33	3603732	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.800000	0.38833	2.015000	0.59207	0.459000	0.35465	TAC		0.602	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		21	52	0	0	0	0	21	52				
DZANK1	55184	broad.mit.edu	37	20	18393348	18393348	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr20:18393348C>G	ENST00000358866.6	-	12	1396	c.1374G>C	c.(1372-1374)caG>caC	p.Q458H	DZANK1_ENST00000262547.5_Missense_Mutation_p.Q458H|DZANK1_ENST00000329494.5_Missense_Mutation_p.Q460H|DZANK1_ENST00000357236.4_Missense_Mutation_p.Q344H|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	458							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TCTCCTGCCTCTGCTTTTGAG	0.517																																						uc010zsa.1		NA																	0				ovary(1)	1						c.(1429-1431)CAG>CAC		hypothetical protein LOC55184							243.0	225.0	231.0					20																	18393348		1921	4142	6063	SO:0001583	missense	55184					intracellular	zinc ion binding	g.chr20:18393348C>G	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1374G>C	20.37:g.18393348C>G	ENSP00000351734:p.Gln458His					C20orf12_uc010zrz.1_5'UTR|C20orf12_uc002wqp.3_Missense_Mutation_p.Q168H|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.Q344H|C20orf12_uc002wqq.3_Missense_Mutation_p.Q458H	p.Q477H	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN			13	1640	-		Myeloproliferative disorder(85;0.0122)	285					B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	c.1431G>C	CCDS46582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.35|19.35	3.810473|3.810473	0.70797|0.70797	.|.	.|.	ENSG00000089091|ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236|ENST00000358866	T;T;T;T|.	0.64991|.	0.03;-0.13;0.55;0.0|.	5.67|5.67	3.52|3.52	0.40303|0.40303	.|.	0.453747|.	0.26193|.	N|.	0.025786|.	T|T	0.51805|0.51805	0.1696|0.1696	M|M	0.70595|0.70595	2.14|2.14	0.29147|0.29147	N|N	0.878658|0.878658	D;D;D;D|.	0.76494|.	0.997;0.999;0.984;0.979|.	P;D;P;P|.	0.67725|.	0.825;0.953;0.747;0.659|.	T|T	0.50906|0.50906	-0.8772|-0.8772	10|5	0.66056|.	D|.	0.02|.	-3.0719|-3.0719	6.1937|6.1937	0.20538|0.20538	0.0:0.5763:0.0:0.4237|0.0:0.5763:0.0:0.4237	.|.	477;344;458;243|.	B7Z631;Q9NVP4-4;Q9NVP4;A6NKD0|.	.;.;DZAN1_HUMAN;.|.	H|T	291;458;460;290;243;344|257	ENSP00000366857:Q291H;ENSP00000262547:Q458H;ENSP00000328866:Q460H;ENSP00000349774:Q344H|.	ENSP00000262547:Q458H|.	Q|R	-|-	3|2	2|0	C20orf12|C20orf12	18341348|18341348	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.907000|0.907000	0.53573|0.53573	1.416000|1.416000	0.34759|0.34759	1.301000|1.301000	0.44836|0.44836	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.517	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407		19	174	0	0	0	0	19	174				
BPIFB6	128859	broad.mit.edu	37	20	31620830	31620830	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr20:31620830G>A	ENST00000349552.1	+	2	138	c.138G>A	c.(136-138)aaG>aaA	p.K46K		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	46						extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCCTGGAGAAGATGGCAGCCG	0.557																																						uc010zuc.1		NA																	0				ovary(1)|pancreas(1)	2						c.(136-138)AAG>AAA		bactericidal/permeability-increasing							107.0	98.0	101.0					20																	31620830		2203	4300	6503	SO:0001819	synonymous_variant	128859					extracellular region	lipid binding	g.chr20:31620830G>A	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.138G>A	20.37:g.31620830G>A						BPIL3_uc010zud.1_5'UTR	p.K46K	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN			2	138	+			46						Silent	SNP	ENST00000349552.1	37	c.138G>A	CCDS13211.1																																																																																				0.557	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		16	87	0	0	0	0	16	87				
ZNF831	128611	broad.mit.edu	37	20	57767508	57767508	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr20:57767508C>G	ENST00000371030.2	+	1	1434	c.1434C>G	c.(1432-1434)gaC>gaG	p.D478E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	478							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGCCCCCAGACAAGTCTCGGC	0.662																																						uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(1432-1434)GAC>GAG		zinc finger protein 831							33.0	40.0	38.0					20																	57767508		1993	4155	6148	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767508C>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1434C>G	20.37:g.57767508C>G	ENSP00000360069:p.Asp478Glu						p.D478E	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1434	+	all_lung(29;0.0085)		478					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1434C>G	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.313198	0.01331	.	.	ENSG00000124203	ENST00000371030	T	0.05580	3.42	5.21	0.682	0.17992	.	.	.	.	.	T	0.02267	0.0070	N	0.11154	0.105	0.09310	N	1	B	0.32071	0.355	B	0.24974	0.057	T	0.39333	-0.9619	9	0.02654	T	1	-7.6983	4.9575	0.14050	0.2187:0.5286:0.1719:0.0808	.	478	Q5JPB2	ZN831_HUMAN	E	478	ENSP00000360069:D478E	ENSP00000360069:D478E	D	+	3	2	ZNF831	57200903	0.035000	0.19736	0.057000	0.19452	0.029000	0.11900	-0.346000	0.07760	0.538000	0.28769	0.655000	0.94253	GAC		0.662	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		13	47	0	0	0	0	13	47				
OGFR	11054	broad.mit.edu	37	20	61444725	61444725	+	Silent	SNP	G	G	A	rs74520364		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr20:61444725G>A	ENST00000290291.6	+	7	1783	c.1758G>A	c.(1756-1758)ccG>ccA	p.P586P	OGFR_ENST00000370461.1_Silent_p.P534P	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	586	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GCCCCAGCCCGGCAGGACCTA	0.741																																						uc002ydj.2		NA																	0					0						c.(1756-1758)CCG>CCA		opioid growth factor receptor		A		0,4046		0,0,2023	7.0	14.0	12.0		1758	-3.2	0.0	20	dbSNP_131	12	9,8325		0,9,4158	no	coding-synonymous	OGFR	NM_007346.2		0,9,6181	AA,AG,GG		0.108,0.0,0.0727		586/678	61444725	9,12371	2023	4167	6190	SO:0001819	synonymous_variant	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444725G>A	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1758G>A	20.37:g.61444725G>A						OGFR_uc002ydk.2_Silent_p.P569P|OGFR_uc002ydl.2_Silent_p.P534P|uc011aam.1_Intron	p.P586P	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN			7	1793	+	Breast(26;3.65e-08)		586			7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].|4.		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	c.1758G>A	CCDS13504.1																																																																																				0.741	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			3	7	0	0	0	0	3	7				
KRTAP20-1	337975	broad.mit.edu	37	21	31988891	31988891	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr21:31988891G>T	ENST00000334664.2	+	1	142	c.118G>T	c.(118-120)Ggc>Tgc	p.G40C	KRTAP6-1_ENST00000329122.2_5'Flank	NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	40						intermediate filament (GO:0005882)				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						CTATGGAAATGGCTACTACTG	0.463																																						uc011ade.1		NA																	0				breast(1)	1						c.(118-120)GGC>TGC		keratin associated protein 20-1							328.0	277.0	294.0					21																	31988891		2203	4300	6503	SO:0001583	missense	337975					intermediate filament		g.chr21:31988891G>T	AP001708	CCDS13603.1	21q22.1	2011-02-10			ENSG00000244624	ENSG00000244624		"""Keratin associated proteins"""	18943	protein-coding gene	gene with protein product						12359730	Standard	NM_181615		Approved	KAP20.1	uc011ade.2	Q3LI63	OTTHUMG00000057801	ENST00000334664.2:c.118G>T	21.37:g.31988891G>T	ENSP00000335503:p.Gly40Cys					KRTAP6-1_uc002yop.2_5'Flank	p.G40C	NM_181615	NP_853646	Q3LI63	KR201_HUMAN			1	118	+			40						Missense_Mutation	SNP	ENST00000334664.2	37	c.118G>T	CCDS13603.1	.	.	.	.	.	.	.	.	.	.	G	5.891	0.348576	0.11126	.	.	ENSG00000244624	ENST00000334664	T	0.17054	2.3	4.76	-1.51	0.08664	.	.	.	.	.	T	0.33265	0.0857	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.66847	0.947	T	0.16600	-1.0397	8	0.87932	D	0	.	8.9418	0.35733	0.5609:0.0:0.4391:0.0	.	40	Q3LI63	KR201_HUMAN	C	40	ENSP00000335503:G40C	ENSP00000335503:G40C	G	+	1	0	KRTAP20-1	30910762	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.363000	0.07593	-0.454000	0.07066	-0.843000	0.03049	GGC		0.463	KRTAP20-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128253.3			11	42	1	0	1.09e-07	1.99e-07	11	42				
ADARB1	104	broad.mit.edu	37	21	46596174	46596174	+	Silent	SNP	G	G	A	rs146135960		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr21:46596174G>A	ENST00000360697.3	+	2	573	c.558G>A	c.(556-558)gcG>gcA	p.A186A	ADARB1_ENST00000348831.4_Silent_p.A186A|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000539173.1_Silent_p.A186A|ADARB1_ENST00000389863.4_Silent_p.A186A			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	186					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CTGACAAGGCGGAGCCTCCCT	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15644	0.0		0.0	False		,,,				2504	0.0					uc002zgy.2		NA																	0				skin(1)	1						c.(556-558)GCG>GCA		RNA-specific adenosine deaminase B1 isoform 2		G	,,,	3,4403	6.2+/-15.9	0,3,2200	49.0	49.0	49.0		558,558,558,558	-2.0	0.0	21	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ADARB1	NM_001112.3,NM_001160230.1,NM_015833.3,NM_015834.3	,,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,,	186/702,186/675,186/742,186/715	46596174	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46596174G>A	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.558G>A	21.37:g.46596174G>A						ADARB1_uc002zgr.2_Silent_p.A186A|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.A186A|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.A186A|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Silent_p.A235A	p.A186A	NM_015833	NP_056648	P78563	RED1_HUMAN		Colorectal(79;0.115)	4	993	+			186					A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Silent	SNP	ENST00000360697.3	37	c.558G>A	CCDS33589.1																																																																																				0.592	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		6	26	0	0	0	0	6	26				
PI4KA	5297	broad.mit.edu	37	22	21064999	21064999	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:21064999T>C	ENST00000572273.1	-	52	6127	c.5897A>G	c.(5896-5898)tAc>tGc	p.Y1966C	PI4KA_ENST00000255882.6_Missense_Mutation_p.Y2024C|PI4KA_ENST00000414196.3_Missense_Mutation_p.Y776C			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1966	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CACAGCCAGGTAGCCTCGGAC	0.587																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3		NA																	0				lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(5896-5898)TAC>TGC		phosphatidylinositol 4-kinase type 3 alpha							230.0	197.0	208.0					22																	21064999		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21064999T>C	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5897A>G	22.37:g.21064999T>C	ENSP00000458238:p.Tyr1966Cys					PI4KA_uc010gsp.2_Missense_Mutation_p.Y357C|PI4KA_uc002zsy.3_Missense_Mutation_p.Y776C	p.Y1966C	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		52	6128	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1966			PI3K/PI4K.		Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.5897A>G		.	.	.	.	.	.	.	.	.	.	T	21.1	4.102770	0.76983	.	.	ENSG00000241973	ENST00000255882;ENST00000414196;ENST00000399213	T;T	0.13538	2.58;2.58	5.01	5.01	0.66863	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.80764	0.981;0.994	T	0.58983	-0.7539	10	0.87932	D	0	-14.5207	15.0591	0.71939	0.0:0.0:0.0:1.0	.	357;1966	A8MTF1;P42356	.;PI4KA_HUMAN	C	1966;776;357	ENSP00000402981:Y776C;ENSP00000382162:Y357C	ENSP00000255882:Y1966C	Y	-	2	0	PI4KA	19394999	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.861000	0.87004	2.027000	0.59764	0.439000	0.28862	TAC		0.587	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		40	171	0	0	0	0	40	171				
HIC2	23119	broad.mit.edu	37	22	21799710	21799710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:21799710C>T	ENST00000443632.2	+	2	898	c.526C>T	c.(526-528)Cag>Tag	p.Q176*	HIC2_ENST00000407598.2_Nonsense_Mutation_p.Q176*|HIC2_ENST00000407464.2_Nonsense_Mutation_p.Q176*			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	176				Q -> R (in Ref. 3; BAA82972). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				AGCTCGGTATCAGGGGCTCGT	0.677																																					NSCLC(23;437 858 2282 27947 40366)	uc002zur.3		NA																	0				skin(1)	1						c.(526-528)CAG>TAG		hypermethylated in cancer 2							6.0	8.0	8.0					22																	21799710		2059	4178	6237	SO:0001587	stop_gained	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21799710C>T	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.526C>T	22.37:g.21799710C>T	ENSP00000387757:p.Gln176*					HIC2_uc002zus.3_Nonsense_Mutation_p.Q176*	p.Q176*	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN			3	756	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	176	Q -> R (in Ref. 3; BAA82972).				Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Nonsense_Mutation	SNP	ENST00000443632.2	37	c.526C>T	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613699	0.87359	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	.	.	.	5.13	5.13	0.70059	.	0.255513	0.41938	D	0.000792	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4749	0.38864	0.0:0.9065:0.0:0.0935	.	.	.	.	X	176	.	ENSP00000385319:Q176X	Q	+	1	0	HIC2	20129710	1.000000	0.71417	0.451000	0.26982	0.065000	0.16274	1.904000	0.39868	2.667000	0.90743	0.561000	0.74099	CAG		0.677	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			14	12	0	0	0	0	14	12				
ZNRF3	84133	broad.mit.edu	37	22	29442723	29442723	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:29442723C>A	ENST00000544604.2	+	6	939	c.764C>A	c.(763-765)gCt>gAt	p.A255D	ZNRF3_ENST00000402174.1_Missense_Mutation_p.A155D|ZNRF3_ENST00000406323.3_Missense_Mutation_p.A155D|ZNRF3_ENST00000332811.4_Missense_Mutation_p.A155D	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	255					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						AACAGGCTGGCTGTGCAGGCT	0.562																																						uc003aeg.2		NA																	0				ovary(1)	1						c.(463-465)GCT>GAT		zinc and ring finger 3							74.0	81.0	79.0					22																	29442723		1936	4132	6068	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29442723C>A	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.764C>A	22.37:g.29442723C>A	ENSP00000443824:p.Ala255Asp					ZNRF3_uc003aeh.1_Missense_Mutation_p.A155D	p.A155D	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN			6	629	+			255			Cytoplasmic (Potential).		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.464C>A	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813641	0.90790	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	T;T;T;T	0.09723	3.05;2.95;2.95;2.95	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.20088	0.0483	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.64321	0.924	T	0.01341	-1.1380	10	0.62326	D	0.03	-5.7055	18.657	0.91458	0.0:1.0:0.0:0.0	.	255	Q9ULT6	ZNRF3_HUMAN	D	255;155;155;155	ENSP00000443824:A255D;ENSP00000328614:A155D;ENSP00000384456:A155D;ENSP00000384553:A155D	ENSP00000328614:A155D	A	+	2	0	ZNRF3	27772723	1.000000	0.71417	0.972000	0.41901	0.892000	0.51952	7.487000	0.81328	2.747000	0.94245	0.655000	0.94253	GCT		0.562	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		50	131	1	0	4.86e-25	9.9e-25	50	131				
MTMR3	8897	broad.mit.edu	37	22	30412531	30412531	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:30412531G>A	ENST00000401950.2	+	15	1860	c.1518G>A	c.(1516-1518)caG>caA	p.Q506Q	MTMR3_ENST00000323630.5_Silent_p.Q370Q|MTMR3_ENST00000406629.1_Silent_p.Q506Q|MTMR3_ENST00000351488.3_Silent_p.Q506Q|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Silent_p.Q506Q|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	506	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AACTGGTGCAGCATACCTATT	0.478																																						uc003agv.3		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.(1516-1518)CAG>CAA		myotubularin-related protein 3 isoform c							264.0	206.0	226.0					22																	30412531		2203	4300	6503	SO:0001819	synonymous_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30412531G>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1518G>A	22.37:g.30412531G>A						MTMR3_uc003agu.3_Silent_p.Q506Q|MTMR3_uc003agw.3_Silent_p.Q506Q	p.Q506Q	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		15	1846	+			506			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	c.1518G>A	CCDS13870.1																																																																																				0.478	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		39	120	0	0	0	0	39	120				
PES1	23481	broad.mit.edu	37	22	30977575	30977575	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:30977575C>T	ENST00000405677.1	-	9	1213	c.270G>A	c.(268-270)acG>acA	p.T90T	PES1_ENST00000335214.6_Silent_p.T229T|PES1_ENST00000402284.3_Silent_p.T212T|PES1_ENST00000402281.1_Silent_p.T90T|PES1_ENST00000354694.7_Silent_p.T229T	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						AGCCCAGCAGCGTGGTGTAGA	0.597																																						uc003aij.1		NA																	0					0						c.(685-687)ACG>ACA		pescadillo homolog 1, containing BRCT domain							94.0	65.0	75.0					22																	30977575		2203	4300	6503	SO:0001819	synonymous_variant	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30977575C>T	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.270G>A	22.37:g.30977575C>T						PES1_uc003aik.1_Silent_p.T229T|PES1_uc003ail.1_Silent_p.T212T|PES1_uc003aim.1_Silent_p.T229T|PES1_uc003ain.1_Silent_p.T90T|PES1_uc003aio.1_Silent_p.T90T	p.T229T	NM_014303	NP_055118	O00541	PESC_HUMAN			7	761	-			229			Sufficient for nucleolar localization.			Silent	SNP	ENST00000405677.1	37	c.687G>A																																																																																					0.597	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		5	34	0	0	0	0	5	34				
DEPDC5	9681	broad.mit.edu	37	22	32217595	32217595	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:32217595G>A	ENST00000382112.3	+	22	2048	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	DEPDC5_ENST00000400249.2_Missense_Mutation_p.E660K|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E660K|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E660K|DEPDC5_ENST00000400248.2_Missense_Mutation_p.E660K|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000400246.1_Missense_Mutation_p.E660K	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	660					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAGCTGCTGGAGTTAGCATA	0.557																																						uc003als.2		NA																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(1978-1980)GAG>AAG		DEP domain containing 5 isoform 1							134.0	141.0	139.0					22																	32217595		2112	4240	6352	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32217595G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1978G>A	22.37:g.32217595G>A	ENSP00000371546:p.Glu660Lys					DEPDC5_uc011als.1_Intron|DEPDC5_uc011alu.1_Missense_Mutation_p.E660K|DEPDC5_uc011alv.1_Intron|DEPDC5_uc003alt.2_Missense_Mutation_p.E660K|DEPDC5_uc003alu.2_Missense_Mutation_p.E100K|DEPDC5_uc003alv.2_Intron|DEPDC5_uc011alw.1_5'Flank|DEPDC5_uc011alt.1_Intron	p.E660K	NM_014662	NP_055477	O75140	DEPD5_HUMAN			23	2120	+			660					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1978G>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.538707|5.538707	0.96474|0.96474	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000266091;ENST00000400249;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248|ENST00000433147	T;T;T;T;T;T|.	0.26957|.	1.74;1.8;1.7;1.8;1.7;1.8|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69797|0.69797	0.3151|0.3151	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.67145|.	0.995;0.996;0.988;0.979|.	P;P;P;P|.	0.61874|.	0.837;0.895;0.709;0.644|.	T|T	0.64145|0.64145	-0.6476|-0.6476	10|5	0.08599|.	T|.	0.76|.	.|.	19.2671|19.2671	0.93993|0.93993	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	660;660;660;660|.	B9EGN9;O75140-4;A8MPX9;O75140|.	.;.;.;DEPD5_HUMAN|.	K|E	660|57	ENSP00000266091:E660K;ENSP00000383108:E660K;ENSP00000383105:E660K;ENSP00000371546:E660K;ENSP00000371545:E660K;ENSP00000383107:E660K|.	ENSP00000266091:E660K|.	E|G	+|+	1|2	0|0	DEPDC5|DEPDC5	30547595|30547595	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.293000|9.293000	0.96082|0.96082	2.801000|2.801000	0.96364|0.96364	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.557	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		24	217	0	0	0	0	24	217				
MPPED1	758	broad.mit.edu	37	22	43821067	43821067	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:43821067G>C	ENST00000417669.2	+	2	520	c.76G>C	c.(76-78)Gca>Cca	p.A26P	MPPED1_ENST00000542779.1_Missense_Mutation_p.A26P|MPPED1_ENST00000538182.1_Missense_Mutation_p.A59P|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000443721.1_Missense_Mutation_p.A26P			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	26							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CCTGGGCATGGCATTCTCCCA	0.697																																						uc011apv.1		NA																	0					0						c.(76-78)GCA>CCA		metallophosphoesterase domain containing 1							25.0	29.0	28.0					22																	43821067		2117	4243	6360	SO:0001583	missense	758						hydrolase activity	g.chr22:43821067G>C	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.76G>C	22.37:g.43821067G>C	ENSP00000388137:p.Ala26Pro					MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Missense_Mutation_p.A26P|MPPED1_uc011apz.1_Missense_Mutation_p.A59P	p.A26P	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN			2	299	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	26					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.76G>C	CCDS46723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.10|18.10	3.548566|3.548566	0.65311|0.65311	.|.	.|.	ENSG00000186732|ENSG00000186732	ENST00000545165|ENST00000417669;ENST00000334209;ENST00000443721;ENST00000447567;ENST00000542779;ENST00000538182	.|T;T;T;T;T	.|0.57436	.|0.59;0.4;0.59;0.59;0.73	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.43433	.|0.1247	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B;B	.|0.15141	.|0.012;0.002	.|B;B	.|0.11329	.|0.006;0.003	.|T	.|0.34129	.|-0.9841	.|10	.|0.59425	.|D	.|0.04	.|-40.1284	16.8942|16.8942	0.86095|0.86095	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|59;26	.|B7Z2S9;O15442	.|.;MPPD1_HUMAN	.|P	-1|26;26;26;26;26;59	.|ENSP00000388137:A26P;ENSP00000335568:A26P;ENSP00000400686:A26P;ENSP00000444532:A26P;ENSP00000438335:A59P	.|ENSP00000335568:A26P	.|A	+|+	.|1	.|0	MPPED1|MPPED1	42151011|42151011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.895000|4.895000	0.63214|0.63214	2.430000|2.430000	0.82344|0.82344	0.655000|0.655000	0.94253|0.94253	.|GCA		0.697	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		12	22	0	0	0	0	12	22				
PARVG	64098	broad.mit.edu	37	22	44585010	44585010	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:44585010C>T	ENST00000444313.3	+	6	748	c.264C>T	c.(262-264)ctC>ctT	p.L88L	PARVG_ENST00000415224.1_Silent_p.L88L|PARVG_ENST00000422871.1_Silent_p.L88L	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	88	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TGGCGGCGCTCAAGCTGGAAG	0.652																																						uc011aqe.1		NA																	0					0						c.(262-264)CTC>CTT		parvin, gamma							63.0	62.0	62.0					22																	44585010		2203	4300	6503	SO:0001819	synonymous_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44585010C>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.264C>T	22.37:g.44585010C>T						PARVG_uc003bep.2_Silent_p.L88L|PARVG_uc011aqf.1_Silent_p.L88L|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	p.L88L	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN			6	688	+		Ovarian(80;0.024)|all_neural(38;0.0299)	88			CH 1.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Silent	SNP	ENST00000444313.3	37	c.264C>T	CCDS14057.1																																																																																				0.652	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		5	61	0	0	0	0	5	61				
GRAMD4	23151	broad.mit.edu	37	22	47033858	47033858	+	Splice_Site	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:47033858G>T	ENST00000406902.1	+	3	496		c.e3+1		GRAMD4_ENST00000361034.3_Splice_Site			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4						apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CATTTCTTACGTGAGTACCAG	0.522																																						uc003bhx.2		NA																	0				ovary(1)	1						c.e2+1		death-inducing-protein							105.0	107.0	106.0					22																	47033858		2203	4300	6503	SO:0001630	splice_region_variant	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47033858G>T		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.283+1G>T	22.37:g.47033858G>T						GRAMD4_uc010had.2_Splice_Site_p.Q34_splice	p.Q95_splice	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	2	322	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)						A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Splice_Site	SNP	ENST00000406902.1	37	c.283_splice	CCDS33672.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.772882	0.69992	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3847	0.74687	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRAMD4	45412522	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.935000	0.92923	2.046000	0.60703	0.306000	0.20318	.		0.522	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124	Intron	31	94	1	0	9.04e-19	1.82e-18	31	94				
CERK	64781	broad.mit.edu	37	22	47095335	47095335	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:47095335G>T	ENST00000216264.8	-	8	930	c.818C>A	c.(817-819)tCa>tAa	p.S273*	CERK_ENST00000541677.1_Nonsense_Mutation_p.S75*	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	273	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTGGTGGACTGAGGACACATC	0.612																																						uc003bia.2		NA																	0				skin(1)	1						c.(817-819)TCA>TAA		ceramide kinase							210.0	151.0	171.0					22																	47095335		2203	4300	6503	SO:0001587	stop_gained	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47095335G>T	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.818C>A	22.37:g.47095335G>T	ENSP00000216264:p.Ser273*					CERK_uc010hae.2_Nonsense_Mutation_p.S75*	p.S273*	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	8	925	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	273			DAGKc.		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Nonsense_Mutation	SNP	ENST00000216264.8	37	c.818C>A	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209050	0.79240	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	.	.	.	4.96	4.96	0.65561	.	0.064956	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.5409	16.7951	0.85600	0.0:0.0:1.0:0.0	.	.	.	.	X	273;75	.	ENSP00000216264:S273X	S	-	2	0	CERK	45473999	1.000000	0.71417	0.071000	0.20095	0.031000	0.12232	8.959000	0.93110	2.301000	0.77427	0.563000	0.77884	TCA		0.612	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		16	113	1	0	1.15e-07	2.11e-07	16	113				
SMARCC1	6599	broad.mit.edu	37	3	47712147	47712147	+	Splice_Site	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:47712147C>A	ENST00000254480.5	-	19	2019		c.e19+1		SMARCC1_ENST00000425518.1_Splice_Site	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1						ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AATCTGCTTACCTCCAGGAGT	0.388																																						uc003crq.2		NA																	0				skin(2)|lung(1)	3						c.e19+1		SWI/SNF-related matrix-associated							126.0	108.0	114.0					3																	47712147		2203	4300	6503	SO:0001630	splice_region_variant	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47712147C>A	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1899+1G>T	3.37:g.47712147C>A						SMARCC1_uc011bbc.1_Splice_Site|SMARCC1_uc011bbd.1_Splice_Site_p.E524_splice	p.E633_splice	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	19	2017	-								Q17RS0|Q6P172|Q8IWH2	Splice_Site	SNP	ENST00000254480.5	37	c.1899_splice	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602314	0.87157	.	.	ENSG00000173473	ENST00000254480	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5595	0.91095	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMARCC1	47687151	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.549000	0.82163	2.626000	0.88956	0.655000	0.94253	.		0.388	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1		Intron	5	20	1	0	0.00198382	0.00329456	5	20				
CNTN3	5067	broad.mit.edu	37	3	74350693	74350693	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:74350693C>A	ENST00000263665.6	-	15	1978	c.1951G>T	c.(1951-1953)Gag>Tag	p.E651*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	651	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCGATGACCTCAGGCACTACA	0.448																																						uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.(1951-1953)GAG>TAG		contactin 3 precursor							108.0	104.0	106.0					3																	74350693		2203	4300	6503	SO:0001587	stop_gained	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74350693C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1951G>T	3.37:g.74350693C>A	ENSP00000263665:p.Glu651*						p.E651*	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	15	2031	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	651			Fibronectin type-III 1.		B9EK50|Q9H039	Nonsense_Mutation	SNP	ENST00000263665.6	37	c.1951G>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	39	7.811687	0.98504	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.54	5.54	0.83059	.	0.104191	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.5023	0.95100	0.0:1.0:0.0:0.0	.	.	.	.	X	651	.	ENSP00000263665:E651X	E	-	1	0	CNTN3	74433383	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.202000	0.77856	2.605000	0.88082	0.591000	0.81541	GAG		0.448	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		25	48	1	0	1.66e-10	3.14e-10	25	48				
CNTN3	5067	broad.mit.edu	37	3	74411068	74411068	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:74411068C>T	ENST00000263665.6	-	10	1364	c.1337G>A	c.(1336-1338)gGg>gAg	p.G446E		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	446	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCTCACATCCCCCTTCTTCCA	0.473																																						uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.(1336-1338)GGG>GAG		contactin 3 precursor							76.0	74.0	75.0					3																	74411068		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74411068C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1337G>A	3.37:g.74411068C>T	ENSP00000263665:p.Gly446Glu						p.G446E	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	10	1417	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	446			Ig-like C2-type 5.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1337G>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404812	0.62288	.	.	ENSG00000113805	ENST00000263665	T	0.28255	1.62	5.41	5.41	0.78517	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	L	0.41027	1.25	0.80722	D	1	P	0.51057	0.941	P	0.59221	0.854	T	0.18147	-1.0346	10	0.46703	T	0.11	.	19.1769	0.93605	0.0:1.0:0.0:0.0	.	446	Q9P232	CNTN3_HUMAN	E	446	ENSP00000263665:G446E	ENSP00000263665:G446E	G	-	2	0	CNTN3	74493758	1.000000	0.71417	0.585000	0.28666	0.053000	0.15095	5.387000	0.66243	2.697000	0.92050	0.591000	0.81541	GGG		0.473	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		12	35	0	0	0	0	12	35				
POU1F1	5449	broad.mit.edu	37	3	87325510	87325510	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:87325510G>A	ENST00000350375.2	-	1	227	c.103C>T	c.(103-105)Cta>Tta	p.L35L	POU1F1_ENST00000344265.3_Silent_p.L35L|POU1F1_ENST00000560656.1_Silent_p.L35L	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	35					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		GAGACTGGTAGACACTCGGCA	0.453																																						uc003dqq.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(103-105)CTA>TTA		pituitary specific transcription factor 1							118.0	118.0	118.0					3																	87325510		2203	4300	6503	SO:0001819	synonymous_variant	5449				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:87325510G>A	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.103C>T	3.37:g.87325510G>A						POU1F1_uc010hoj.1_Silent_p.L35L	p.L35L	NM_000306	NP_000297	P28069	PIT1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)	1	228	-	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	35					O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Silent	SNP	ENST00000350375.2	37	c.103C>T	CCDS2919.1																																																																																				0.453	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		14	64	0	0	0	0	14	64				
LNP1	348801	broad.mit.edu	37	3	100170695	100170695	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:100170695C>A	ENST00000383693.3	+	3	1569	c.289C>A	c.(289-291)Cca>Aca	p.P97T	LNP1_ENST00000489752.1_Missense_Mutation_p.P110T	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	97										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						ATTCAAGGAGCCACTGGAATC	0.453																																						uc003dtx.3		NA																	0					0						c.(289-291)CCA>ACA		leukemia NUP98 fusion partner 1							105.0	98.0	100.0					3																	100170695		1849	4087	5936	SO:0001583	missense	348801							g.chr3:100170695C>A		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.289C>A	3.37:g.100170695C>A	ENSP00000373191:p.Pro97Thr					LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	p.P97T	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN			3	1569	+			97					B7ZLT3	Missense_Mutation	SNP	ENST00000383693.3	37	c.289C>A	CCDS43120.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156864	0.38119	.	.	ENSG00000206535	ENST00000383693;ENST00000489752	.	.	.	5.32	2.57	0.30868	.	0.239840	0.32769	N	0.005666	T	0.24392	0.0591	L	0.32530	0.975	0.09310	N	1	P	0.36909	0.573	B	0.39217	0.294	T	0.09400	-1.0676	9	0.30854	T	0.27	-10.7862	5.0139	0.14326	0.0:0.5928:0.1523:0.255	.	97	A1A4G5	LNP1_HUMAN	T	97;110	.	ENSP00000373191:P97T	P	+	1	0	LNP1	101653385	0.626000	0.27120	0.158000	0.22627	0.847000	0.48162	0.086000	0.14935	0.260000	0.21731	0.461000	0.40582	CCA		0.453	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			15	59	1	0	3.46e-05	5.99e-05	15	59				
ADCY5	111	broad.mit.edu	37	3	123019032	123019032	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:123019032G>A	ENST00000462833.1	-	15	4047	c.2835C>T	c.(2833-2835)ctC>ctT	p.L945L	ADCY5_ENST00000309879.5_Silent_p.L595L|ADCY5_ENST00000491190.1_Silent_p.L578L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	945					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCTCCACGATGAGCACGTAGA	0.632																																						uc003egh.1		NA																	0				ovary(4)	4						c.(2833-2835)CTC>CTT		adenylate cyclase 5							147.0	109.0	122.0					3																	123019032		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123019032G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2835C>T	3.37:g.123019032G>A						ADCY5_uc003egg.1_Silent_p.L578L|ADCY5_uc003egi.1_Silent_p.L504L	p.L945L	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	15	2835	-			945			Helical; (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.2835C>T	CCDS3022.1																																																																																				0.632	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		5	58	0	0	0	0	5	58				
PIK3R4	30849	broad.mit.edu	37	3	130463595	130463595	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:130463595G>A	ENST00000356763.3	-	2	1025	c.468C>T	c.(466-468)gtC>gtT	p.V156V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	156	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TCCAACTGGTGACCATCACAT	0.443																																						uc003enj.2		NA																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(466-468)GTC>GTT		phosphoinositide-3-kinase, regulatory subunit 4							95.0	93.0	93.0					3																	130463595		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130463595G>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.468C>T	3.37:g.130463595G>A							p.V156V	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			2	1049	-			156			Protein kinase.		Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.468C>T	CCDS3067.1																																																																																				0.443	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		14	84	0	0	0	0	14	84				
NEK11	79858	broad.mit.edu	37	3	130828653	130828653	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:130828653G>A	ENST00000510769.1	+	4	596	c.343G>A	c.(343-345)Gat>Aat	p.D115N	NEK11_ENST00000508196.1_Missense_Mutation_p.D115N|NEK11_ENST00000383366.4_Missense_Mutation_p.D115N|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000356918.4_Missense_Mutation_p.D115N|NEK11_ENST00000429253.2_Missense_Mutation_p.D115N|NEK11_ENST00000511262.1_Missense_Mutation_p.D115N|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510688.1_Missense_Mutation_p.D115N|NEK11_ENST00000507910.1_Missense_Mutation_p.D115N|AC121332.1_ENST00000390784.1_RNA					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCAGGGCCGAGATCTGGACGA	0.333																																						uc003eny.2		NA																	0				large_intestine(4)|stomach(1)|central_nervous_system(1)	6						c.(343-345)GAT>AAT		NIMA-related kinase 11 isoform 1							70.0	78.0	75.0					3																	130828653		2202	4299	6501	SO:0001583	missense	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130828653G>A	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.343G>A	3.37:g.130828653G>A	ENSP00000421549:p.Asp115Asn					NEK11_uc003enx.2_Missense_Mutation_p.D115N|NEK11_uc003eoa.2_Missense_Mutation_p.D115N|NEK11_uc003enz.2_5'UTR|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_5'UTR|NEK11_uc011bll.1_Missense_Mutation_p.D115N|NEK11_uc003enw.1_Missense_Mutation_p.D115N|NEK11_uc011blm.1_Missense_Mutation_p.D115N|NEK11_uc010hto.1_5'UTR	p.D115N	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN			5	669	+			115			Protein kinase.			Missense_Mutation	SNP	ENST00000510769.1	37	c.343G>A		.	.	.	.	.	.	.	.	.	.	G	27.5	4.836938	0.91117	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.88	5.88	0.94601	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	0.52532	D	0.000067	T	0.63698	0.2533	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;0.998;0.999;0.998	T	0.63319	-0.6664	10	0.72032	D	0.01	.	19.0075	0.92857	0.0:0.0:1.0:0.0	.	115;115;115;115;115	Q8NG66-3;E9PHI8;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;NEK11_HUMAN;.	N	115	ENSP00000421549:D115N;ENSP00000397180:D115N;ENSP00000349389:D115N;ENSP00000423458:D115N;ENSP00000425114:D115N;ENSP00000372857:D115N;ENSP00000426662:D115N;ENSP00000421851:D115N	ENSP00000349389:D115N	D	+	1	0	NEK11	132311343	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.056000	0.76662	2.788000	0.95919	0.643000	0.83706	GAT		0.333	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		8	101	0	0	0	0	8	101				
ATP1B3	483	broad.mit.edu	37	3	141622516	141622516	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:141622516C>G	ENST00000286371.3	+	2	352	c.164C>G	c.(163-165)tCa>tGa	p.S55*	ATP1B3_ENST00000539728.1_Nonsense_Mutation_p.S41*|ATP1B3_ENST00000462082.1_Missense_Mutation_p.H9D|RNU6-509P_ENST00000363519.1_RNA	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	55					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)			cervix(1)|endometrium(1)|lung(2)	4						GCACTCTTCTCATTCACGATG	0.413																																						uc003eug.1		NA																	0					0						c.(163-165)TCA>TGA		Na+/K+ -ATPase beta 3 subunit							163.0	149.0	154.0					3																	141622516		2203	4300	6503	SO:0001587	stop_gained	483				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	g.chr3:141622516C>G	BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849		"""CD molecules"", ""ATPases / P-type"""	806	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-3"", ""sodium pump subunit beta-3"", ""sodium-potassium ATPase subunit beta 3 (non-catalytic)"""	601867				8798450, 9457675	Standard	NM_001679		Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.164C>G	3.37:g.141622516C>G	ENSP00000286371:p.Ser55*					ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Nonsense_Mutation_p.S41*	p.S55*	NM_001679	NP_001670	P54709	AT1B3_HUMAN			2	338	+			55			Helical; Signal-anchor for type II membrane protein; (Potential).		B7Z1N7	Nonsense_Mutation	SNP	ENST00000286371.3	37	c.164C>G	CCDS3121.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.727523|6.727523	0.97792|0.97792	.|.	.|.	ENSG00000069849|ENSG00000069849	ENST00000462082|ENST00000286371;ENST00000539728;ENST00000495216	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.547896	.|0.20862	.|N	.|0.084328	T|.	0.72622|.	0.3483|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67133|.	-0.5747|.	4|.	0.87932|0.30078	D|T	0|0.28	-8.0341|-8.0341	19.6022|19.6022	0.95568|0.95568	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	9|55;41;41	.|.	ENSP00000418353:H9D|ENSP00000286371:S55X	H|S	+|+	1|2	0|0	ATP1B3|ATP1B3	143105206|143105206	0.731000|0.731000	0.28111|0.28111	0.479000|0.479000	0.27329|0.27329	0.979000|0.979000	0.70002|0.70002	3.536000|3.536000	0.53582|0.53582	2.706000|2.706000	0.92434|0.92434	0.555000|0.555000	0.69702|0.69702	CAT|TCA		0.413	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353218.1	NM_001679		16	81	0	0	0	0	16	81				
CPB1	1360	broad.mit.edu	37	3	148562481	148562481	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:148562481G>T	ENST00000491148.1	+	9	1039	c.705G>T	c.(703-705)aaG>aaT	p.K235N	CPB1_ENST00000282957.4_Missense_Mutation_p.K235N			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	235						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTTGGAGAAAGACTCGCTCCA	0.438																																						uc003ewl.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(703-705)AAG>AAT		pancreatic carboxypeptidase B1 preproprotein							114.0	113.0	113.0					3																	148562481		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148562481G>T	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.705G>T	3.37:g.148562481G>T	ENSP00000417222:p.Lys235Asn						p.K235N	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		8	728	+			235					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.705G>T	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.758936	0.69763	.	.	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	T;T;T	0.39592	1.07;1.07;1.07	5.78	3.02	0.34903	Peptidase M14, carboxypeptidase A (2);	0.044249	0.85682	N	0.000000	T	0.71550	0.3353	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75563	-0.3274	10	0.87932	D	0	.	10.3927	0.44181	0.2124:0.0:0.7876:0.0	.	235	P15086	CBPB1_HUMAN	N	235;235;201	ENSP00000417222:K235N;ENSP00000282957:K235N;ENSP00000419427:K201N	ENSP00000282957:K235N	K	+	3	2	CPB1	150045171	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.867000	0.39499	0.369000	0.24510	0.655000	0.94253	AAG		0.438	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		14	101	1	0	9.05e-12	1.76e-11	14	101				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; 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; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	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	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(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.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	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.chr3:178936091G>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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	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	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (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; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	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	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			9	56	0	0	0	0	9	56				
ZNF639	51193	broad.mit.edu	37	3	179051458	179051458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:179051458C>T	ENST00000326361.3	+	7	1151	c.706C>T	c.(706-708)Cga>Tga	p.R236*	ZNF639_ENST00000496856.1_Nonsense_Mutation_p.R236*|ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000484866.1_Nonsense_Mutation_p.R236*	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	236					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAATGTGTGTCGAGTATGCAA	0.353																																						uc003fjq.1		NA																	0					0						c.(706-708)CGA>TGA		zinc finger protein 639							77.0	70.0	72.0					3																	179051458		2203	4300	6503	SO:0001587	stop_gained	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051458C>T	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.706C>T	3.37:g.179051458C>T	ENSP00000325634:p.Arg236*					ZNF639_uc003fjr.1_Nonsense_Mutation_p.R236*	p.R236*	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	1049	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		236			C2H2-type 2.		A9X3Z9|D3DNR3	Nonsense_Mutation	SNP	ENST00000326361.3	37	c.706C>T	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	C	37	6.165117	0.97338	.	.	ENSG00000121864	ENST00000496856;ENST00000326361;ENST00000466264;ENST00000484866	.	.	.	5.78	4.91	0.64330	.	0.129373	0.35970	N	0.002861	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	9.0935	0.36625	0.2388:0.6893:0.0:0.0718	.	.	.	.	X	236	.	ENSP00000325634:R236X	R	+	1	2	ZNF639	180534152	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.502000	0.35704	1.588000	0.49971	0.655000	0.94253	CGA		0.353	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		18	71	0	0	0	0	18	71				
TTC14	151613	broad.mit.edu	37	3	180324283	180324283	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:180324283G>T	ENST00000296015.4	+	9	1196	c.1064G>T	c.(1063-1065)gGa>gTa	p.G355V	TTC14_ENST00000382584.4_Missense_Mutation_p.G355V|TTC14_ENST00000412756.2_Missense_Mutation_p.G355V	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	355							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCGACAAAAGGAAGTTTGAAC	0.373																																						uc003fkk.2		NA																	0				ovary(1)	1						c.(1063-1065)GGA>GTA		tetratricopeptide repeat domain 14 isoform a							108.0	115.0	112.0					3																	180324283		2203	4300	6503	SO:0001583	missense	151613						RNA binding	g.chr3:180324283G>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1064G>T	3.37:g.180324283G>T	ENSP00000296015:p.Gly355Val					TTC14_uc003fkl.2_Missense_Mutation_p.G355V|TTC14_uc003fkm.2_Missense_Mutation_p.G355V	p.G355V	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		9	1196	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		355			TPR 3.		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1064G>T	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742161	0.89573	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584	T;T;T	0.71817	-0.6;-0.6;-0.6	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.050969	0.85682	D	0.000000	D	0.89473	0.6725	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;0.991;1.0	D	0.91376	0.5123	10	0.87932	D	0	-17.5617	20.3465	0.98790	0.0:0.0:1.0:0.0	.	355;355;355	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	V	355	ENSP00000296015:G355V;ENSP00000413743:G355V;ENSP00000372027:G355V	ENSP00000296015:G355V	G	+	2	0	TTC14	181806977	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.624000	0.98398	2.798000	0.96311	0.655000	0.94253	GGA		0.373	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		11	135	1	0	5.51e-06	9.69e-06	11	135				
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311							protein complex binding (GO:0032403)	p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557																																						uc011bsp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(931-933)CAG>GAG		hypothetical protein LOC151963							34.0	35.0	34.0					3																	192516720		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192516720G>C	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.931C>G	3.37:g.192516720G>C	ENSP00000376246:p.Gln311Glu						p.Q311E	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	1252	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		311					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.931C>G	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453077	0.43531	.	.	ENSG00000180611	ENST00000392452	T	0.07800	3.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	L	0.51422	1.61	0.80722	D	1	P	0.46784	0.884	B	0.42959	0.403	T	0.07102	-1.0790	10	0.05351	T	0.99	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	311	Q8IYB1	M21D2_HUMAN	E	311	ENSP00000376246:Q311E	ENSP00000376246:Q311E	Q	-	1	0	MB21D2	193999414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	CAG		0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		3	73	0	0	0	0	3	73				
ATP13A3	79572	broad.mit.edu	37	3	194169313	194169313	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:194169313C>T	ENST00000439040.1	-	12	1814	c.1023G>A	c.(1021-1023)gtG>gtA	p.V341V	ATP13A3_ENST00000256031.4_Silent_p.V341V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	341						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CTATTCCTTTCACATCCACTG	0.333																																						uc003fty.3		NA																	0				ovary(1)	1						c.(1021-1023)GTG>GTA		ATPase type 13A3							132.0	115.0	120.0					3																	194169313		1847	4097	5944	SO:0001819	synonymous_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194169313C>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1023G>A	3.37:g.194169313C>T						ATP13A3_uc003ftz.1_Silent_p.V47V	p.V341V	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	11	1425	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	341					Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	c.1023G>A	CCDS43187.1																																																																																				0.333	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		11	53	0	0	0	0	11	53				
MUC20	200958	broad.mit.edu	37	3	195451995	195451995	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr3:195451995C>G	ENST00000447234.2	+	2	647	c.521C>G	c.(520-522)tCa>tGa	p.S174*	MUC20_ENST00000320736.6_Nonsense_Mutation_p.S174*|MUC20_ENST00000445522.2_Nonsense_Mutation_p.S139*|MUC20_ENST00000436408.1_Nonsense_Mutation_p.S174*	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	174	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GGCCTGTCCTCAGAGAGCAGC	0.587																																						uc010hzo.2		NA																	0					0						c.(520-522)TCA>TGA		mucin 20 isoform L							51.0	50.0	50.0					3																	195451995		1869	4105	5974	SO:0001587	stop_gained	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195451995C>G	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.521C>G	3.37:g.195451995C>G	ENSP00000414350:p.Ser174*					MUC20_uc010hzp.2_Nonsense_Mutation_p.S139*|MUC20_uc011bte.1_5'Flank	p.S174*	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	2	647	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	345		Missing.|Missing.|Missing.|Missing.	10.|12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Nonsense_Mutation	SNP	ENST00000447234.2	37	c.521C>G		.	.	.	.	.	.	.	.	.	.	C	15.66	2.897862	0.52227	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	.	.	.	3.85	-2.31	0.06765	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	3.6851	8.4471	0.32849	0.0:0.5222:0.0:0.4778	.	.	.	.	X	174;174;174;139	.	ENSP00000325431:S174X	S	+	2	0	MUC20	196937666	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-0.559000	0.05971	-0.417000	0.07461	0.442000	0.29010	TCA		0.587	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		19	133	0	0	0	0	19	133				
LDB2	9079	broad.mit.edu	37	4	16760821	16760821	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:16760821T>A	ENST00000304523.5	-	2	518	c.195A>T	c.(193-195)ttA>ttT	p.L65F	LDB2_ENST00000515064.1_Missense_Mutation_p.L65F|LDB2_ENST00000502640.1_Missense_Mutation_p.L65F|LDB2_ENST00000441778.2_Missense_Mutation_p.L65F	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	65					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						ATGAAAGGGTTAATGTGGCGT	0.388																																						uc003goz.2		NA																	0					0						c.(193-195)TTA>TTT		LIM domain binding 2 isoform a							100.0	97.0	98.0					4																	16760821		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16760821T>A	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.195A>T	4.37:g.16760821T>A	ENSP00000306772:p.Leu65Phe					LDB2_uc003gpa.2_Missense_Mutation_p.L65F|LDB2_uc003gpb.2_Missense_Mutation_p.L65F|LDB2_uc011bxh.1_Missense_Mutation_p.L65F|LDB2_uc010iee.2_Missense_Mutation_p.L65F	p.L65F	NM_001290	NP_001281	O43679	LDB2_HUMAN			2	511	-			65					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.195A>T	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.933076	0.73442	.	.	ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000506732	.	.	.	5.53	4.35	0.52113	.	0.000000	0.64402	D	0.000005	T	0.76478	0.3993	M	0.86953	2.85	0.80722	D	1	D;P;D;P;B	0.62365	0.984;0.941;0.991;0.927;0.192	P;P;P;P;B	0.59595	0.834;0.766;0.86;0.654;0.398	T	0.76735	-0.2850	9	0.35671	T	0.21	-9.5253	10.8751	0.46906	0.0:0.0738:0.0:0.9262	.	31;65;65;65;65	B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679	.;.;.;.;LDB2_HUMAN	F	65;65;65;65;41	.	ENSP00000306772:L65F	L	-	3	2	LDB2	16369919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.828000	0.48120	1.039000	0.40074	0.459000	0.35465	TTA		0.388	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			11	47	0	0	0	0	11	47				
SOD3	6649	broad.mit.edu	37	4	24801160	24801160	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:24801160G>T	ENST00000382120.3	+	2	222	c.17G>T	c.(16-18)tGt>tTt	p.C6F		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	6					removal of superoxide radicals (GO:0019430)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	copper ion binding (GO:0005507)|heparin binding (GO:0008201)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				GCGCTACTGTGTTCCTGCCTG	0.662																																						uc003gqz.2		NA																	0					0						c.(16-18)TGT>TTT		superoxide dismutase 3, extracellular precursor							12.0	13.0	12.0					4																	24801160		2191	4291	6482	SO:0001583	missense	6649				removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding	g.chr4:24801160G>T		CCDS3430.1	4p15.2	2012-09-20			ENSG00000109610	ENSG00000109610	1.15.1.1		11181	protein-coding gene	gene with protein product		185490					Standard	NM_003102		Approved	EC-SOD	uc003gqz.3	P08294	OTTHUMG00000128565	ENST00000382120.3:c.17G>T	4.37:g.24801160G>T	ENSP00000371554:p.Cys6Phe					SOD3_uc003gqy.1_RNA	p.C6F	NM_003102	NP_003093	P08294	SODE_HUMAN			2	222	+		Breast(46;0.0503)	6					Q5U781|Q6FHA2	Missense_Mutation	SNP	ENST00000382120.3	37	c.17G>T	CCDS3430.1	.	.	.	.	.	.	.	.	.	.	G	6.029	0.373754	0.11409	.	.	ENSG00000109610	ENST00000382120	D	0.99089	-5.41	5.01	3.2	0.36748	.	0.793325	0.11205	N	0.588370	D	0.95027	0.8390	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.90120	0.4198	10	0.44086	T	0.13	-23.1595	3.267	0.06869	0.0875:0.1432:0.4566:0.3127	.	6	P08294	SODE_HUMAN	F	6	ENSP00000371554:C6F	ENSP00000371554:C6F	C	+	2	0	SOD3	24410258	0.246000	0.23909	0.154000	0.22540	0.945000	0.59286	1.163000	0.31798	0.447000	0.26695	0.561000	0.74099	TGT		0.662	SOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250416.1			3	13	1	0	0.004672	0.00764337	3	13				
ATP8A1	10396	broad.mit.edu	37	4	42602537	42602538	+	Splice_Site	DNP	TG	TG	AT			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:42602537_42602538TG>AT	ENST00000381668.5	-	6	641		c.e6-2		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTCTCAAAACTGGAAAGAGAAA	0.332																																						uc003gwr.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.e6-1		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)																																			SO:0001630	splice_region_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42602537_42602538TG>AT	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.410_410delinsAT	4.37:g.42602537_42602538delinsAT						ATP8A1_uc003gws.2_Splice_Site_p.V137_splice|ATP8A1_uc011byz.1_Splice_Site_p.V137_splice	p.V137_splice	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			6	642	-								Q32M35|Q32M36|Q4W5J7|Q4W5P2	Splice_Site	DNP	ENST00000381668.5	37	c.410_splice	CCDS3466.1																																																																																				0.332	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	Intron	5	27	0	0	0	0	5	27				
ATP10D	57205	broad.mit.edu	37	4	47559897	47559897	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:47559897G>C	ENST00000273859.3	+	12	2310	c.2041G>C	c.(2041-2043)Gag>Cag	p.E681Q	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	681					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCAGGTGTGTGAGAGCCCCCA	0.552																																						uc003gxk.1		NA																	0				ovary(2)|pancreas(1)	3						c.(2041-2043)GAG>CAG		ATPase, class V, type 10D							76.0	77.0	77.0					4																	47559897		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47559897G>C	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2041G>C	4.37:g.47559897G>C	ENSP00000273859:p.Glu681Gln					ATP10D_uc003gxl.1_Intron	p.E681Q	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			12	2205	+			681			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.2041G>C	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	6.524	0.464954	0.12402	.	.	ENSG00000145246	ENST00000273859	T	0.38560	1.13	5.06	2.4	0.29515	HAD-like domain (1);	1.376190	0.04112	N	0.314804	T	0.37517	0.1006	M	0.62723	1.935	0.09310	N	1	B	0.13594	0.008	B	0.16722	0.016	T	0.17048	-1.0382	10	0.14656	T	0.56	.	2.3526	0.04287	0.2199:0.1297:0.5165:0.1338	.	681	Q9P241	AT10D_HUMAN	Q	681	ENSP00000273859:E681Q	ENSP00000273859:E681Q	E	+	1	0	ATP10D	47254654	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.072000	0.14617	0.316000	0.23135	-0.224000	0.12420	GAG		0.552	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		6	44	0	0	0	0	6	44				
AASDH	132949	broad.mit.edu	37	4	57221514	57221514	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:57221514G>A	ENST00000205214.6	-	6	1117	c.937C>T	c.(937-939)Cga>Tga	p.R313*	AASDH_ENST00000602986.1_Nonsense_Mutation_p.R160*|AASDH_ENST00000513376.1_Nonsense_Mutation_p.R213*|AASDH_ENST00000451613.1_Nonsense_Mutation_p.R313*|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000502617.1_Nonsense_Mutation_p.R313*	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	313					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GCTAATACTCGAAGAGAAGTA	0.368																																						uc003hbn.2		NA																	0				ovary(4)	4						c.(937-939)CGA>TGA		aminoadipate-semialdehyde dehydrogenase							120.0	114.0	116.0					4																	57221514		2203	4300	6503	SO:0001587	stop_gained	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57221514G>A	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.937C>T	4.37:g.57221514G>A	ENSP00000205214:p.Arg313*					AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Nonsense_Mutation_p.R160*|AASDH_uc003hbo.2_Nonsense_Mutation_p.R213*|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Nonsense_Mutation_p.R313*|AASDH_uc003hbp.2_Nonsense_Mutation_p.R313*	p.R313*	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			6	1090	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	313					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Nonsense_Mutation	SNP	ENST00000205214.6	37	c.937C>T	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448589	0.84101	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	.	.	.	5.68	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6573	16.2595	0.82533	0.0:0.0:0.8668:0.1332	.	.	.	.	X	313;213;313;160;313	.	ENSP00000205214:R313X	R	-	1	2	AASDH	56916271	1.000000	0.71417	0.985000	0.45067	0.175000	0.22909	3.172000	0.50832	1.381000	0.46364	0.650000	0.86243	CGA		0.368	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		10	59	0	0	0	0	10	59				
PPM1K	152926	broad.mit.edu	37	4	89189447	89189447	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:89189447C>A	ENST00000608933.1	-	5	1136	c.747G>T	c.(745-747)ttG>ttT	p.L249F	PPM1K_ENST00000508256.1_Missense_Mutation_p.L30F|PPM1K_ENST00000506423.1_5'Flank|PPM1K_ENST00000295908.7_Missense_Mutation_p.L249F	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	249	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GAGGCTGCCCCAAACTATTCC	0.433																																						uc003hrm.3		NA																	0					0						c.(745-747)TTG>TTT		protein phosphatase 1K (PP2C domain containing)							132.0	121.0	125.0					4																	89189447		2203	4300	6503	SO:0001583	missense	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89189447C>A	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.747G>T	4.37:g.89189447C>A	ENSP00000477341:p.Leu249Phe						p.L249F	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	5	1137	-		Hepatocellular(203;0.114)	249			PP2C-like.		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	c.747G>T	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862208	0.51482	.	.	ENSG00000163644	ENST00000295908	T	0.23147	1.92	4.94	4.1	0.47936	Protein phosphatase 2C-like (5);	0.144524	0.45361	D	0.000370	T	0.12305	0.0299	N	0.12611	0.24	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.11966	-1.0566	10	0.18710	T	0.47	-1.512	7.6806	0.28511	0.1627:0.753:0.0:0.0843	.	249	Q8N3J5	PPM1K_HUMAN	F	249	ENSP00000295908:L249F	ENSP00000295908:L249F	L	-	3	2	PPM1K	89408471	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	2.220000	0.42908	1.455000	0.47813	0.655000	0.94253	TTG		0.433	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		12	37	1	0	6.43e-13	1.27e-12	12	37				
FAM13A	10144	broad.mit.edu	37	4	89668809	89668809	+	Silent	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:89668809C>A	ENST00000264344.5	-	18	2562	c.2355G>T	c.(2353-2355)gcG>gcT	p.A785A	FAM13A_ENST00000508369.1_Silent_p.A459A|FAM13A_ENST00000395002.2_Silent_p.A459A|FAM13A_ENST00000503556.1_Silent_p.A445A|FAM13A_ENST00000511976.1_Silent_p.A371A|FAM13A_ENST00000513837.1_Silent_p.A431A	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	785					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GGCTGCTTTCCGCTCGCTTCT	0.498																																						uc003hse.1		NA																	0				ovary(1)|liver(1)	2						c.(2353-2355)GCG>GCT		family with sequence similarity 13, member A1							152.0	157.0	155.0					4																	89668809		2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89668809C>A	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2355G>T	4.37:g.89668809C>A						FAM13A_uc003hsa.1_Silent_p.A256A|FAM13A_uc003hsb.1_Silent_p.A459A|FAM13A_uc003hsd.1_Silent_p.A459A|FAM13A_uc003hsc.1_Silent_p.A445A|FAM13A_uc011cdq.1_Silent_p.A431A|FAM13A_uc003hsf.1_Silent_p.A371A|FAM13A_uc003hsg.1_Silent_p.A256A	p.A785A	NM_014883	NP_055698	O94988	FA13A_HUMAN			18	2563	-			785					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.2355G>T	CCDS34029.1																																																																																				0.498	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			25	141	1	0	3.74e-18	7.5e-18	25	141				
GRID2	2895	broad.mit.edu	37	4	94693335	94693335	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:94693335C>G	ENST00000282020.4	+	16	2968	c.2710C>G	c.(2710-2712)Cct>Gct	p.P904A	GRID2_ENST00000510992.1_Missense_Mutation_p.P809A	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	904					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TGATTTGACCCCTCTGGACAT	0.458																																						uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(2710-2712)CCT>GCT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						172.0	163.0	166.0					4																	94693335		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94693335C>G	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2710C>G	4.37:g.94693335C>G	ENSP00000282020:p.Pro904Ala					GRID2_uc011cdu.1_Missense_Mutation_p.P809A	p.P904A	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	16	2968	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	904			Cytoplasmic (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2710C>G	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	6.379	0.438015	0.12104	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.12672	2.71;2.66	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	N	0.02247	-0.625	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.41288	-0.9517	10	0.08381	T	0.77	.	19.2246	0.93814	0.0:1.0:0.0:0.0	.	809;904	E9PH24;O43424	.;GRID2_HUMAN	A	904;809	ENSP00000282020:P904A;ENSP00000421257:P809A	ENSP00000282020:P904A	P	+	1	0	GRID2	94912358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.452000	0.80683	2.531000	0.85337	0.650000	0.86243	CCT		0.458	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			5	80	0	0	0	0	5	80				
CENPE	1062	broad.mit.edu	37	4	104035710	104035710	+	Splice_Site	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:104035710C>T	ENST00000265148.3	-	46	7532		c.e46-1		CENPE_ENST00000380026.3_Splice_Site	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGCACTGATTCTAACAAAAAC	0.348																																						uc003hxb.1		NA																	0				ovary(5)|breast(4)	9						c.e46-1		centromere protein E							105.0	97.0	100.0					4																	104035710		2202	4299	6501	SO:0001630	splice_region_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104035710C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7443-1G>A	4.37:g.104035710C>T						CENPE_uc003hxc.1_Splice_Site_p.E2360_splice	p.E2481_splice	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	46	7533	-								A6NKY9|A8K2U7|Q4LE75	Splice_Site	SNP	ENST00000265148.3	37	c.7443_splice	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521489	0.27211	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0565	0.58984	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CENPE	104255159	1.000000	0.71417	0.994000	0.49952	0.196000	0.23810	3.577000	0.53885	2.145000	0.66743	0.591000	0.81541	.		0.348	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Intron	5	25	0	0	0	0	5	25				
COL25A1	84570	broad.mit.edu	37	4	109769944	109769944	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:109769944G>C	ENST00000399132.1	-	27	1935	c.1405C>G	c.(1405-1407)Cca>Gca	p.P469A	COL25A1_ENST00000399126.1_Missense_Mutation_p.P469A|COL25A1_ENST00000399127.1_Missense_Mutation_p.P442A	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGGATTCCTGGAGATCCCTGC	0.348																																						uc003hze.1		NA																	0				ovary(2)	2						c.(1405-1407)CCA>GCA		collagen, type XXV, alpha 1 isoform 1							124.0	112.0	116.0					4																	109769944		1834	4084	5918	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109769944G>C	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1405C>G	4.37:g.109769944G>C	ENSP00000382083:p.Pro469Ala					COL25A1_uc003hzg.2_Missense_Mutation_p.P469A|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.P227A	p.P469A	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	26	1936	-		Hepatocellular(203;0.217)	469			Extracellular (Potential).|Collagen-like 6.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1405C>G	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233774	0.39498	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.96967	-4.19;-4.19;-4.19	5.01	5.01	0.66863	.	0.108055	0.64402	D	0.000004	D	0.97461	0.9169	M	0.62088	1.915	0.38616	D	0.951019	P;D	0.69078	0.942;0.997	P;D	0.77004	0.627;0.989	D	0.98059	1.0392	9	.	.	.	-3.8769	16.4954	0.84238	0.0:0.0:1.0:0.0	.	469;469	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	A	469;471;450;442;469;399	ENSP00000382083:P469A;ENSP00000382078:P442A;ENSP00000382077:P469A	.	P	-	1	0	COL25A1	109989393	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.071000	0.57556	2.494000	0.84150	0.552000	0.68991	CCA		0.348	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		9	36	0	0	0	0	9	36				
CAMK2D	817	broad.mit.edu	37	4	114376956	114376956	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:114376956C>T	ENST00000342666.5	-	18	1454	c.1455G>A	c.(1453-1455)ggG>ggA	p.G485G	CAMK2D_ENST00000394526.2_Silent_p.G496G|CAMK2D_ENST00000394524.3_Intron|CAMK2D_ENST00000296402.5_Intron|CAMK2D_ENST00000454265.2_Silent_p.G510G|CAMK2D_ENST00000515496.1_Silent_p.G496G|CAMK2D_ENST00000514328.1_Silent_p.G484G|CAMK2D_ENST00000418639.2_Silent_p.G499G|CAMK2D_ENST00000511664.1_Silent_p.G519G|CAMK2D_ENST00000429180.1_Silent_p.G505G			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	485					calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AGTTTTCTTTCCCATTTGGAA	0.423																																						uc003ibi.2		NA																	0				ovary(1)	1						c.(1453-1455)GGG>GGA		calcium/calmodulin-dependent protein kinase II							116.0	113.0	114.0					4																	114376956		2203	4300	6503	SO:0001819	synonymous_variant	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114376956C>T	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.1455G>A	4.37:g.114376956C>T						CAMK2D_uc003ibj.2_Intron|CAMK2D_uc003ibk.2_Intron|CAMK2D_uc003ibo.3_Silent_p.G519G	p.G485G	NM_001221	NP_001212	Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	18	2314	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	485					A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Silent	SNP	ENST00000342666.5	37	c.1455G>A	CCDS3703.1																																																																																				0.423	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			6	36	0	0	0	0	6	36				
PCDH10	57575	broad.mit.edu	37	4	134084409	134084409	+	Silent	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:134084409G>T	ENST00000264360.5	+	4	3901	c.3075G>T	c.(3073-3075)acG>acT	p.T1025T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	1025					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGACTAATACGCGAGCGCCTT	0.483																																						uc003iha.2		NA																	0				ovary(2)	2						c.(3073-3075)ACG>ACT		protocadherin 10 isoform 1 precursor							106.0	117.0	113.0					4																	134084409		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084409G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.3075G>T	4.37:g.134084409G>T							p.T1025T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3901	+			1025			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.3075G>T	CCDS34063.1																																																																																				0.483	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		14	134	1	0	6.72e-11	1.29e-10	14	134				
ELF2	1998	broad.mit.edu	37	4	139980635	139980635	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:139980635C>T	ENST00000394235.2	-	10	1750	c.1248G>A	c.(1246-1248)gcG>gcA	p.A416A	ELF2_ENST00000510408.1_Silent_p.A356A|ELF2_ENST00000379550.1_Silent_p.A428A|ELF2_ENST00000358635.3_Silent_p.A368A|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000265495.4_Silent_p.A416A|ELF2_ENST00000379549.2_Silent_p.A339A	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)									p.A416A(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TTGGAGAGGTCGCTGTTGTTG	0.428																																						uc003ihp.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(1246-1248)GCG>GCA		E74-like factor 2 (ets domain transcription							80.0	73.0	76.0					4																	139980635		2203	4297	6500	SO:0001819	synonymous_variant	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity	g.chr4:139980635C>T	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1248G>A	4.37:g.139980635C>T						ELF2_uc003ihm.1_Silent_p.A368A|ELF2_uc003ihn.1_Silent_p.A356A|ELF2_uc003iho.1_Silent_p.A339A|ELF2_uc011chc.1_Silent_p.A231A	p.A416A	NM_201999	NP_973728	Q15723	ELF2_HUMAN			9	1454	-	all_hematologic(180;0.162)		428						Silent	SNP	ENST00000394235.2	37	c.1248G>A	CCDS3744.1																																																																																				0.428	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		12	34	0	0	0	0	12	34				
FBXW7	55294	broad.mit.edu	37	4	153247311	153247311	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:153247311C>T	ENST00000281708.4	-	10	2720	c.1491G>A	c.(1489-1491)ttG>ttA	p.L497L	FBXW7_ENST00000296555.5_Silent_p.L379L|FBXW7_ENST00000603841.1_Silent_p.L497L|FBXW7_ENST00000603548.1_Silent_p.L497L|FBXW7_ENST00000263981.5_Silent_p.L417L|FBXW7_ENST00000393956.3_Silent_p.L321L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	497					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CATGACCCATCAAAACATGTA	0.453			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NA		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		1	Unknown(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1489-1491)TTG>TTA		F-box and WD repeat domain containing 7 isoform							145.0	136.0	139.0					4																	153247311		2203	4300	6503	SO:0001819	synonymous_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247311C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1491G>A	4.37:g.153247311C>T						FBXW7_uc011cii.1_Silent_p.L497L|FBXW7_uc003imt.2_Silent_p.L497L|FBXW7_uc011cih.1_Silent_p.L321L|FBXW7_uc003imq.2_Silent_p.L417L|FBXW7_uc003imr.2_Silent_p.L379L	p.L497L	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1640	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	497			WD 3.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	c.1491G>A	CCDS3777.1																																																																																				0.453	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			5	74	0	0	0	0	5	74				
MARCH1	55016	broad.mit.edu	37	4	164466767	164466767	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:164466767G>C	ENST00000503008.1	-	7	1528	c.552C>G	c.(550-552)atC>atG	p.I184M	MARCH1_ENST00000514618.1_Missense_Mutation_p.I440M|MARCH1_ENST00000339875.5_Missense_Mutation_p.I167M|MARCH1_ENST00000274056.7_Missense_Mutation_p.I184M	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	184					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGCCTTGCTTGATTTCCTCCG	0.438																																						uc003iqs.1		NA																	0				lung(2)	2						c.(550-552)ATC>ATG		membrane-associated RING-CH protein I							228.0	173.0	192.0					4																	164466767		2203	4300	6503	SO:0001583	missense	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164466767G>C	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.552C>G	4.37:g.164466767G>C	ENSP00000427223:p.Ile184Met					MARCH1_uc003iqr.1_Missense_Mutation_p.I167M	p.I184M	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN			7	1529	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	184					D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.552C>G	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851604	0.32699	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875	T;T;T;T	0.36340	1.72;1.72;1.26;1.33	5.03	4.18	0.49190	.	0.000000	0.64402	D	0.000002	T	0.47303	0.1438	L	0.52126	1.63	0.43453	D	0.995645	P;D	0.65815	0.781;0.995	P;D	0.64776	0.459;0.929	T	0.38757	-0.9646	10	0.45353	T	0.12	.	7.9582	0.30055	0.1234:0.0:0.7339:0.1426	.	184;167	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	M	184;184;440;167	ENSP00000274056:I184M;ENSP00000427223:I184M;ENSP00000421322:I440M;ENSP00000345676:I167M	ENSP00000274056:I184M	I	-	3	3	MARCH1	164686217	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.259000	0.58828	1.097000	0.41459	0.655000	0.94253	ATC		0.438	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		3	39	0	0	0	0	3	39				
TLL1	7092	broad.mit.edu	37	4	166795090	166795090	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:166795090G>A	ENST00000061240.2	+	1	681	c.34G>A	c.(34-36)Gtg>Atg	p.V12M	TLL1_ENST00000513213.1_Missense_Mutation_p.V12M|TLL1_ENST00000507499.1_Missense_Mutation_p.V12M	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	12					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAGGATGCTCGTGTGGCTGGT	0.592																																						uc003irh.1		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(34-36)GTG>ATG		tolloid-like 1 precursor							151.0	152.0	152.0					4																	166795090		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166795090G>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.34G>A	4.37:g.166795090G>A	ENSP00000061240:p.Val12Met					TLL1_uc011cjn.1_Missense_Mutation_p.V12M|TLL1_uc011cjo.1_Translation_Start_Site	p.V12M	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	1	681	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	12					B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.34G>A	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	3.177	-0.168700	0.06461	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.50813	0.73;0.73;0.73	4.14	-8.27	0.01017	.	0.575147	0.15865	N	0.240806	T	0.19525	0.0469	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.002	B;B	0.06405	0.002;0.001	T	0.06862	-1.0803	10	0.41790	T	0.15	.	9.1954	0.37224	0.0835:0.5839:0.2356:0.097	.	12;12	E9PD25;O43897	.;TLL1_HUMAN	M	12	ENSP00000061240:V12M;ENSP00000426082:V12M;ENSP00000422937:V12M	ENSP00000061240:V12M	V	+	1	0	TLL1	167014540	0.000000	0.05858	0.425000	0.26659	0.138000	0.21146	-0.965000	0.03829	-1.681000	0.01448	-0.502000	0.04539	GTG		0.592	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			8	120	0	0	0	0	8	120				
GPM6A	2823	broad.mit.edu	37	4	176573010	176573010	+	Silent	SNP	A	A	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr4:176573010A>G	ENST00000280187.7	-	5	561	c.516T>C	c.(514-516)aaT>aaC	p.N172N	GPM6A_ENST00000506894.1_Silent_p.N161N|GPM6A_ENST00000515090.1_Silent_p.N165N|GPM6A_ENST00000393658.2_Silent_p.N172N	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	172					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CCAAGCAGAGATTTGCTCCCT	0.463																																						uc003iuf.2		NA																	0					0						c.(514-516)AAT>AAC		glycoprotein M6A isoform 2							147.0	137.0	140.0					4																	176573010		2203	4300	6503	SO:0001819	synonymous_variant	2823					cell surface|integral to membrane		g.chr4:176573010A>G		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.516T>C	4.37:g.176573010A>G						GPM6A_uc011ckj.1_Silent_p.N165N|GPM6A_uc003iug.2_Silent_p.N172N|GPM6A_uc003iuh.2_Silent_p.N161N	p.N172N	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	4	1320	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	172			Extracellular (Potential).		B7Z642|E9PHI5|Q92602	Silent	SNP	ENST00000280187.7	37	c.516T>C	CCDS3824.1																																																																																				0.463	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			10	74	0	0	0	0	10	74				
SDHA	6389	broad.mit.edu	37	5	228381	228381	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:228381A>T	ENST00000264932.6	+	6	818	c.703A>T	c.(703-705)Atc>Ttc	p.I235F	SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	235					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCGTGGTGTCATCGCACTGTG	0.428									Familial Paragangliomas																													uc003jao.3		NA																	0					0						c.(703-705)ATC>TTC		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)						99.0	91.0	94.0					5																	228381		2203	4300	6503	SO:0001583	missense	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228381A>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.703A>T	5.37:g.228381A>T	ENSP00000264932:p.Ile235Phe					SDHA_uc003jan.2_Missense_Mutation_p.I235F|SDHA_uc011clv.1_Missense_Mutation_p.I235F|SDHA_uc011clw.1_Missense_Mutation_p.I187F|SDHA_uc003jap.3_Missense_Mutation_p.I235F|SDHA_uc003jaq.3_Missense_Mutation_p.I10F|SDHA_uc003jar.3_5'Flank	p.I235F	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	818	+			235					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.703A>T	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	a	19.19	3.779259	0.70107	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70869	-0.52;-0.52;-0.52	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.136916	0.47455	U	0.000240	D	0.82774	0.5110	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.69078	0.98;0.993;0.997;0.997;0.997	P;D;P;D;D	0.63703	0.883;0.917;0.88;0.917;0.917	D	0.85499	0.1190	10	0.87932	D	0	.	13.4155	0.60966	1.0:0.0:0.0:0.0	.	187;235;235;235;241	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	F	235;235;187	ENSP00000264932:I235F;ENSP00000426514:I235F;ENSP00000427703:I187F	ENSP00000264932:I235F	I	+	1	0	SDHA	281381	1.000000	0.71417	0.042000	0.18584	0.341000	0.28922	8.895000	0.92512	2.127000	0.65507	0.524000	0.50904	ATC		0.428	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		3	38	0	0	0	0	3	38				
ADCY2	108	broad.mit.edu	37	5	7717278	7717278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:7717278C>A	ENST00000338316.4	+	12	1720	c.1631C>A	c.(1630-1632)tCa>tAa	p.S544*	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Nonsense_Mutation_p.S364*	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	544					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGAACCAAGTCACAAAAGAAG	0.269																																						uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1630-1632)TCA>TAA		adenylate cyclase 2							84.0	89.0	87.0					5																	7717278		2203	4299	6502	SO:0001587	stop_gained	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7717278C>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1631C>A	5.37:g.7717278C>A	ENSP00000342952:p.Ser544*					ADCY2_uc011cmo.1_Nonsense_Mutation_p.S364*	p.S544*	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			12	1698	+			544			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Nonsense_Mutation	SNP	ENST00000338316.4	37	c.1631C>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	40	8.433692	0.98810	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	.	.	.	6.17	6.17	0.99709	.	0.064020	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	544;377;364	.	ENSP00000342952:S544X	S	+	2	0	ADCY2	7770278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.274000	0.78538	2.941000	0.99782	0.655000	0.94253	TCA		0.269	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		5	50	1	0	8.13e-05	0.000138603	5	50				
CTNND2	1501	broad.mit.edu	37	5	11236806	11236806	+	Silent	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:11236806G>T	ENST00000304623.8	-	10	1947	c.1758C>A	c.(1756-1758)gcC>gcA	p.A586A	CTNND2_ENST00000458100.2_Silent_p.A153A|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.A249A|CTNND2_ENST00000511377.1_Silent_p.A495A|CTNND2_ENST00000359640.2_Silent_p.A586A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	586					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CACTGACCTCGGCTTTAATTT	0.443																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1756-1758)GCC>GCA		catenin (cadherin-associated protein), delta 2							110.0	117.0	115.0					5																	11236806		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11236806G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1758C>A	5.37:g.11236806G>T						CTNND2_uc010itt.2_Silent_p.A495A|CTNND2_uc011cmy.1_Silent_p.A249A|CTNND2_uc011cmz.1_Silent_p.A153A|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.A153A	p.A586A	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			10	1903	-			586			ARM 3.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.1758C>A	CCDS3881.1																																																																																				0.443	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		27	115	1	0	2.8e-10	5.28e-10	27	115				
PARP8	79668	broad.mit.edu	37	5	50092850	50092850	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:50092850G>A	ENST00000281631.5	+	13	1621	c.1463G>A	c.(1462-1464)cGt>cAt	p.R488H	PARP8_ENST00000514342.2_Missense_Mutation_p.R241H|PARP8_ENST00000503750.2_Missense_Mutation_p.R488H|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.R488H|PARP8_ENST00000514067.2_Missense_Mutation_p.R488H|PARP8_ENST00000505554.1_Missense_Mutation_p.R467H	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	488						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GTACGAGACCGTGGCTTCCTG	0.308																																						uc003jon.3		NA																	0				lung(3)|large_intestine(1)|ovary(1)	5						c.(1462-1464)CGT>CAT		poly (ADP-ribose) polymerase family, member 8							86.0	87.0	87.0					5																	50092850		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50092850G>A	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1463G>A	5.37:g.50092850G>A	ENSP00000281631:p.Arg488His					PARP8_uc011cpz.1_Missense_Mutation_p.R380H|PARP8_uc003joo.2_Missense_Mutation_p.R488H|PARP8_uc003jop.2_Missense_Mutation_p.R488H	p.R488H	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			14	1645	+		Lung NSC(810;0.0305)|Breast(144;0.222)	488					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1463G>A	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	8.990	0.977415	0.18812	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.67	3.89	0.44902	.	0.197352	0.42548	N	0.000691	T	0.40767	0.1130	L	0.29908	0.895	0.41145	D	0.985988	B;B;B	0.11235	0.004;0.0;0.004	B;B;B	0.06405	0.002;0.001;0.002	T	0.15867	-1.0422	8	.	.	.	-7.6718	8.4216	0.32703	0.2936:0.0:0.7064:0.0	.	380;488;488	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	H	488;488;241;488;488;467;241;241	.	.	R	+	2	0	PARP8	50128607	0.640000	0.27243	0.899000	0.35326	0.951000	0.60555	0.959000	0.29240	0.759000	0.33084	0.591000	0.81541	CGT		0.308	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		8	20	0	0	0	0	8	20				
HTR1A	3350	broad.mit.edu	37	5	63256365	63256365	+	Silent	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:63256365C>A	ENST00000323865.3	-	1	1415	c.1182G>T	c.(1180-1182)ctG>ctT	p.L394L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	394					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CGGGGTTAAGCAGAGAGTTGG	0.498																																						uc011cqt.1		NA																	0				ovary(2)|pancreas(2)	4						c.(1180-1182)CTG>CTT		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						188.0	196.0	193.0					5																	63256365		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256365C>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1182G>T	5.37:g.63256365C>A							p.L394L	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1182	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	394			Helical; Name=7; (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.1182G>T	CCDS34168.1																																																																																				0.498	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		47	159	1	0	4.01e-20	8.09e-20	47	159				
HTR1A	3350	broad.mit.edu	37	5	63256923	63256923	+	Silent	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:63256923C>A	ENST00000323865.3	-	1	857	c.624G>T	c.(622-624)ctG>ctT	p.L208L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	208					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCATGAGCAGCAGCGGGATGT	0.592																																						uc011cqt.1		NA																	0				ovary(2)|pancreas(2)	4						c.(622-624)CTG>CTT		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						106.0	118.0	114.0					5																	63256923		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256923C>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.624G>T	5.37:g.63256923C>A							p.L208L	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	624	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	208			Helical; Name=5; (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.624G>T	CCDS34168.1																																																																																				0.592	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		37	122	1	0	2.66e-13	5.26e-13	37	122				
MSH3	4437	broad.mit.edu	37	5	79966002	79966002	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:79966002C>G	ENST00000265081.6	+	4	746	c.666C>G	c.(664-666)aaC>aaG	p.N222K		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	222	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AATCAGCTAACAAACGGTCCA	0.378								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2		NA																	0				lung(2)|ovary(1)|breast(1)	4						c.(664-666)AAC>AAG	MMR	mutS homolog 3							109.0	104.0	106.0					5																	79966002		2203	4300	6503	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79966002C>G	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.666C>G	5.37:g.79966002C>G	ENSP00000265081:p.Asn222Lys						p.N222K	NM_002439	NP_002430	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	4	919	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	222			Interaction with EXO1.		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.666C>G	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	5.486	0.274682	0.10403	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.86230	-2.09	5.56	-0.281	0.12882	DNA mismatch repair protein MutS, N-terminal (2);	0.061920	0.64402	D	0.000012	D	0.88702	0.6508	L	0.48642	1.525	0.21984	N	0.999439	D	0.89917	1.0	D	0.85130	0.997	T	0.80953	-0.1152	9	.	.	.	-19.8953	9.9368	0.41556	0.0:0.4837:0.0:0.5163	.	222	P20585	MSH3_HUMAN	K	222;213	ENSP00000265081:N222K	.	N	+	3	2	MSH3	80001758	1.000000	0.71417	0.018000	0.16275	0.075000	0.17131	1.915000	0.39976	-0.134000	0.11516	-0.768000	0.03414	AAC		0.378	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		8	22	0	0	0	0	8	22				
SRFBP1	153443	broad.mit.edu	37	5	121355833	121355833	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:121355833T>A	ENST00000339397.4	+	6	475	c.403T>A	c.(403-405)Tca>Aca	p.S135T		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TGAAGTTGAGTCATCAAAGAA	0.368																																						uc003kst.1		NA																	0					0						c.(403-405)TCA>ACA		serum response factor binding protein 1							57.0	52.0	54.0					5																	121355833		1874	4117	5991	SO:0001583	missense	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121355833T>A	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.403T>A	5.37:g.121355833T>A	ENSP00000341324:p.Ser135Thr						p.S135T	NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	475	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	135			Potential.			Missense_Mutation	SNP	ENST00000339397.4	37	c.403T>A	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.677099	0.29783	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.46	1.5	0.22942	.	0.747402	0.13081	N	0.415322	T	0.31327	0.0793	M	0.70595	2.14	0.09310	N	0.999997	P	0.43094	0.799	B	0.37650	0.255	T	0.13764	-1.0497	9	0.26408	T	0.33	-2.5436	6.0529	0.19794	0.0:0.1561:0.3975:0.4463	.	135	Q8NEF9	SRFB1_HUMAN	T	135	.	ENSP00000341324:S135T	S	+	1	0	SRFBP1	121383732	0.661000	0.27430	0.854000	0.33618	0.088000	0.18126	1.075000	0.30716	0.377000	0.24735	0.482000	0.46254	TCA		0.368	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		12	31	0	0	0	0	12	31				
PCDHB16	57717	broad.mit.edu	37	5	140562680	140562680	+	Silent	SNP	C	C	T	rs377183903		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:140562680C>T	ENST00000361016.2	+	1	1701	c.546C>T	c.(544-546)atC>atT	p.I182I		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	182	Cadherin 2. {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)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGTTCTAATCCATGAATTCA	0.458																																						uc003liv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(544-546)ATC>ATT		protocadherin beta 16 precursor		C		1,4405	2.1+/-5.4	0,1,2202	48.0	50.0	49.0		546	-2.9	0.0	5		49	0,8600		0,0,4300	no	coding-synonymous	PCDHB16	NM_020957.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		182/777	140562680	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140562680C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.546C>T	5.37:g.140562680C>T						PCDHB16_uc010jfw.1_Intron	p.I182I	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1701	+			182			Extracellular (Potential).|Cadherin 2.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.546C>T	CCDS4251.1																																																																																				0.458	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		12	33	0	0	0	0	12	33				
PCDHB16	57717	broad.mit.edu	37	5	140563947	140563947	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:140563947C>A	ENST00000361016.2	+	1	2968	c.1813C>A	c.(1813-1815)Cag>Aag	p.Q605K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	605	Cadherin 6. {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)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCGTACCAGCTGCTCAA	0.706																																						uc003liv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1813-1815)CAG>AAG		protocadherin beta 16 precursor							23.0	24.0	23.0					5																	140563947		2037	3843	5880	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563947C>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1813C>A	5.37:g.140563947C>A	ENSP00000354293:p.Gln605Lys					PCDHB9_uc003liw.1_5'Flank	p.Q605K	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2968	+			605			Cadherin 6.|Extracellular (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1813C>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	c	16.18	3.050588	0.55218	.	.	ENSG00000196963	ENST00000361016	T	0.50277	0.75	4.22	3.32	0.38043	Cadherin (4);Cadherin-like (1);	0.540328	0.13934	N	0.352646	T	0.41743	0.1172	L	0.31157	0.91	0.26733	N	0.970553	P	0.42584	0.784	P	0.45913	0.497	T	0.26018	-1.0115	10	0.72032	D	0.01	.	9.0567	0.36410	0.1511:0.5546:0.2944:0.0	.	605	Q9NRJ7	PCDBG_HUMAN	K	605	ENSP00000354293:Q605K	ENSP00000354293:Q605K	Q	+	1	0	PCDHB16	140544131	0.118000	0.22208	0.996000	0.52242	0.983000	0.72400	0.772000	0.26647	0.740000	0.32651	0.479000	0.44913	CAG		0.706	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		35	101	1	0	2.87e-16	5.73e-16	35	101				
ARAP3	64411	broad.mit.edu	37	5	141033762	141033762	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:141033762C>G	ENST00000239440.4	-	33	4455	c.4390G>C	c.(4390-4392)Gag>Cag	p.E1464Q	ARAP3_ENST00000508305.1_Missense_Mutation_p.E1295Q|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.E1113Q|FCHSD1_ENST00000519800.1_5'Flank|FCHSD1_ENST00000522783.1_5'Flank|FCHSD1_ENST00000435817.2_5'Flank	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1464	Pro-rich.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGAGGGGGCTCAGGTGGCCTC	0.612																																						uc003llm.2		NA																	0				breast(5)|ovary(1)|large_intestine(1)	7						c.(4390-4392)GAG>CAG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							65.0	73.0	70.0					5																	141033762		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141033762C>G	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.4390G>C	5.37:g.141033762C>G	ENSP00000239440:p.Glu1464Gln					ARAP3_uc003lll.2_Missense_Mutation_p.E415Q|ARAP3_uc011dbe.1_Missense_Mutation_p.E1113Q|ARAP3_uc003lln.2_Missense_Mutation_p.E1295Q	p.E1464Q	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			33	4468	-			1464			Pro-rich.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.4390G>C	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339356	0.41398	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.47869	0.83;0.83;0.83	5.05	5.05	0.67936	.	0.245968	0.28821	N	0.014037	T	0.36744	0.0978	N	0.19112	0.55	0.09310	N	1	B;B;B	0.25609	0.079;0.13;0.079	B;B;B	0.29353	0.029;0.101;0.047	T	0.21621	-1.0240	10	0.31617	T	0.26	.	17.1297	0.86724	0.0:1.0:0.0:0.0	.	1113;1295;1464	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	Q	1295;1464;1113	ENSP00000421826:E1295Q;ENSP00000239440:E1464Q;ENSP00000421468:E1113Q	ENSP00000239440:E1464Q	E	-	1	0	ARAP3	141013946	0.036000	0.19791	0.120000	0.21714	0.068000	0.16541	1.978000	0.40598	2.605000	0.88082	0.655000	0.94253	GAG		0.612	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		15	48	0	0	0	0	15	48				
PCDH1	5097	broad.mit.edu	37	5	141233941	141233941	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:141233941A>T	ENST00000287008.3	-	5	3527	c.3380T>A	c.(3379-3381)tTt>tAt	p.F1127Y	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AGAGTGGCCAAACTCACTGCA	0.587																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llp.2		NA																	0				ovary(5)	5						c.(3379-3381)TTT>TAT		protocadherin 1 isoform 2 precursor							38.0	30.0	33.0					5																	141233941		2202	4296	6498	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141233941A>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3380T>A	5.37:g.141233941A>T	ENSP00000287008:p.Phe1127Tyr						p.F1127Y	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	5	3497	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	Error:Variant_position_missing_in_Q08174_after_alignment					Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	c.3380T>A	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	A	0.886	-0.727108	0.03158	.	.	ENSG00000156453	ENST00000287008	T	0.52057	0.68	4.48	3.26	0.37387	.	0.000000	0.41712	U	0.000826	T	0.26629	0.0651	N	0.24115	0.695	0.80722	D	1	B	0.25441	0.126	B	0.25140	0.058	T	0.05451	-1.0884	10	0.07175	T	0.84	.	7.1959	0.25853	0.6411:0.0:0.0:0.3589	.	1127	Q08174-2	.	Y	1127	ENSP00000287008:F1127Y	ENSP00000287008:F1127Y	F	-	2	0	PCDH1	141214125	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.738000	0.55067	0.620000	0.30215	0.379000	0.24179	TTT		0.587	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420		8	21	0	0	0	0	8	21				
DOCK2	1794	broad.mit.edu	37	5	169484632	169484632	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:169484632G>C	ENST00000256935.8	+	44	4509	c.4429G>C	c.(4429-4431)Ggg>Cgg	p.G1477R	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.G538R|DOCK2_ENST00000520908.1_Missense_Mutation_p.G969R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1477	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAAGCTGCCGGGGATCCTGCG	0.582																																						uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(4429-4431)GGG>CGG		dedicator of cytokinesis 2							118.0	96.0	103.0					5																	169484632		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169484632G>C	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4429G>C	5.37:g.169484632G>C	ENSP00000256935:p.Gly1477Arg					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.G969R|DOCK2_uc003mah.2_Missense_Mutation_p.G33R	p.G1477R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		44	4509	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1477			DHR-2.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4429G>C	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127759	0.94473	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.17691	2.26;2.26;2.26	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.67711	-0.5600	10	0.72032	D	0.01	.	19.3254	0.94260	0.0:0.0:1.0:0.0	.	969;33;1477	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	R	1477;969;538	ENSP00000256935:G1477R;ENSP00000429283:G969R;ENSP00000438827:G538R	ENSP00000256935:G1477R	G	+	1	0	DOCK2	169417210	1.000000	0.71417	0.903000	0.35520	0.793000	0.44817	9.864000	0.99589	2.556000	0.86216	0.655000	0.94253	GGG		0.582	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		12	43	0	0	0	0	12	43				
FLT4	2324	broad.mit.edu	37	5	180057697	180057697	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr5:180057697G>A	ENST00000261937.6	-	3	336	c.258C>T	c.(256-258)ggC>ggT	p.G86G	FLT4_ENST00000393347.3_Silent_p.G86G|FLT4_ENST00000502649.1_Silent_p.G86G|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	86	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCGTCTGTGCCCTCGCAGT	0.632																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NA																	0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(256-258)GGC>GGT		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						194.0	155.0	168.0					5																	180057697		2203	4299	6502	SO:0001819	synonymous_variant	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057697G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.258C>T	5.37:g.180057697G>A						FLT4_uc003mlz.3_Silent_p.G86G|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Silent_p.G86G|FLT4_uc011dgz.1_Silent_p.G86G|FLT4_uc011dha.1_Silent_p.G86G	p.G86G	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	3	337	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	86			Ig-like C2-type 1.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.258C>T	CCDS4457.1																																																																																				0.632	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			16	51	0	0	0	0	16	51				
HIST1H2BG	8339	broad.mit.edu	37	6	26216847	26216847	+	Missense_Mutation	SNP	G	G	C	rs149681157		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:26216847G>C	ENST00000244601.3	-	1	25	c.25C>G	c.(25-27)Cct>Gct	p.P9A	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	9					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TTCGGAGCAGGAGCTGACTTA	0.483																																						uc003ngz.2		NA																	0				ovary(1)	1						c.(25-27)CCT>GCT		histone cluster 1, H2bg							103.0	95.0	98.0					6																	26216847		2203	4300	6503	SO:0001583	missense	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216847G>C	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.25C>G	6.37:g.26216847G>C	ENSP00000244601:p.Pro9Ala					HIST1H2AE_uc003nha.1_5'Flank	p.P9A	NM_003518	NP_003509	P62807	H2B1C_HUMAN			1	26	-		all_hematologic(11;0.196)	9					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	c.25C>G	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	16.93	3.257398	0.59321	.	.	ENSG00000187990	ENST00000244601	T	0.22134	1.97	3.9	3.9	0.45041	.	.	.	.	.	T	0.29749	0.0743	.	.	.	0.38099	D	0.937194	.	.	.	.	.	.	T	0.09228	-1.0684	6	0.66056	D	0.02	.	15.3941	0.74778	0.0:0.0:1.0:0.0	.	.	.	.	A	9	ENSP00000244601:P9A	ENSP00000244601:P9A	P	-	1	0	HIST1H2BG	26324826	1.000000	0.71417	0.030000	0.17652	0.150000	0.21749	5.481000	0.66826	2.163000	0.67991	0.655000	0.94253	CCT		0.483	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		11	67	0	0	0	0	11	67				
TNXB	7148	broad.mit.edu	37	6	32036752	32036752	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:32036752C>G	ENST00000375244.3	-	16	5950	c.5749G>C	c.(5749-5751)Gat>Cat	p.D1917H	TNXB_ENST00000375247.2_Missense_Mutation_p.D1917H			P22105	TENX_HUMAN	tenascin XB	1999	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGTCTCTATCTGTGTACTGG	0.552																																						uc003nzl.2		NA																	0					0						c.(5749-5751)GAT>CAT		tenascin XB isoform 1 precursor							134.0	151.0	145.0					6																	32036752		1325	2581	3906	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036752C>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5749G>C	6.37:g.32036752C>G	ENSP00000364393:p.Asp1917His						p.D1917H	NM_019105	NP_061978	P22105	TENX_HUMAN			16	5951	-			1999			Fibronectin type-III 12.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5749G>C		.	.	.	.	.	.	.	.	.	.	C	20.3	3.959222	0.74016	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57595	0.39;0.39	4.41	3.54	0.40534	.	0.139498	0.32884	N	0.005521	T	0.61350	0.2340	M	0.85197	2.74	0.09310	N	0.999995	D	0.76494	0.999	D	0.71414	0.973	T	0.55829	-0.8079	10	0.59425	D	0.04	.	9.9423	0.41587	0.0:0.9028:0.0:0.0972	.	1917	P22105-3	.	H	1917	ENSP00000364393:D1917H;ENSP00000364396:D1917H	ENSP00000364393:D1917H	D	-	1	0	TNXB	32144730	0.798000	0.28890	0.301000	0.25044	0.666000	0.39218	4.024000	0.57218	1.233000	0.43693	0.655000	0.94253	GAT		0.552	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		17	61	0	0	0	0	17	61				
APOBEC2	10930	broad.mit.edu	37	6	41029282	41029282	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:41029282G>A	ENST00000244669.2	+	2	391	c.347G>A	c.(346-348)cGg>cAg	p.R116Q		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	116					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R116Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGCCCTGCGGTACAATGTC	0.562																																					Ovarian(118;1320 2185 8096 29684)	uc003opl.2		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(346-348)CGG>CAG		apolipoprotein B mRNA editing enzyme, catalytic							167.0	148.0	154.0					6																	41029282		2203	4300	6503	SO:0001583	missense	10930				DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	g.chr6:41029282G>A	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.347G>A	6.37:g.41029282G>A	ENSP00000244669:p.Arg116Gln					UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_RNA	p.R116Q	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN			2	494	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		116					B2R899|Q53F28|Q5TGU5|Q5TGU6	Missense_Mutation	SNP	ENST00000244669.2	37	c.347G>A	CCDS4848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.666|4.666	0.123917|0.123917	0.08931|0.08931	.|.	.|.	ENSG00000124701|ENSG00000124701	ENST00000426505|ENST00000244669	.|T	.|0.42131	.|0.98	5.69|5.69	0.879|0.879	0.19155|0.19155	.|APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.|0.723863	.|0.13823	.|N	.|0.360275	T|T	0.11153|0.11153	0.0272|0.0272	L|L	0.39245|0.39245	1.2|1.2	0.09310|0.09310	N|N	1|1	.|B	.|0.16396	.|0.017	.|B	.|0.04013	.|0.001	T|T	0.37314|0.37314	-0.9711|-0.9711	6|10	0.40728|0.13470	T|T	0.16|0.59	.|.	8.4782|8.4782	0.33027|0.33027	0.4754:0.0:0.5246:0.0|0.4754:0.0:0.5246:0.0	.|.	.|116	.|Q9Y235	.|ABEC2_HUMAN	S|Q	81|116	.|ENSP00000244669:R116Q	ENSP00000395214:G81S|ENSP00000244669:R116Q	G|R	+|+	1|2	0|0	APOBEC2|APOBEC2	41137260|41137260	0.959000|0.959000	0.32827|0.32827	0.796000|0.796000	0.32109|0.32109	0.486000|0.486000	0.33341|0.33341	1.934000|1.934000	0.40163|0.40163	0.071000|0.071000	0.16664|0.16664	-0.140000|-0.140000	0.14226|0.14226	GGT|CGG		0.562	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		13	155	0	0	0	0	13	155				
BAI3	577	broad.mit.edu	37	6	70040462	70040462	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:70040462C>T	ENST00000370598.1	+	23	3921	c.3100C>T	c.(3100-3102)Ctg>Ttg	p.L1034L	BAI3_ENST00000238918.8_Silent_p.L240L|BAI3_ENST00000546190.1_5'Flank	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1034					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CGCTGTTGTCCTGGTAAACAT	0.353																																						uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3100-3102)CTG>TTG		brain-specific angiogenesis inhibitor 3							85.0	78.0	80.0					6																	70040462		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70040462C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3100C>T	6.37:g.70040462C>T						BAI3_uc010kak.2_Silent_p.L1034L|BAI3_uc011dxx.1_Silent_p.L240L|BAI3_uc003pex.1_Silent_p.L164L	p.L1034L	NM_001704	NP_001695	O60242	BAI3_HUMAN			23	3548	+		all_lung(197;0.212)	1034			Helical; Name=5; (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.3100C>T	CCDS4968.1																																																																																				0.353	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			5	26	0	0	0	0	5	26				
FUT9	10690	broad.mit.edu	37	6	96651056	96651056	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:96651056C>G	ENST00000302103.5	+	3	351	c.25C>G	c.(25-27)Ctt>Gtt	p.L9V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	9					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CAAAGGAATTCTTCGCCCATT	0.393																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3		NA																	0				skin(4)|ovary(1)	5						c.(25-27)CTT>GTT		fucosyltransferase 9 (alpha (1,3)							91.0	95.0	94.0					6																	96651056		2201	4300	6501	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651056C>G	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.25C>G	6.37:g.96651056C>G	ENSP00000302599:p.Leu9Val						p.L9V	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	366	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	9			Cytoplasmic (Potential).		Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.25C>G	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.242872	0.22796	.	.	ENSG00000172461	ENST00000302103	T	0.26373	1.74	5.58	4.69	0.59074	.	0.232496	0.39985	N	0.001201	T	0.11665	0.0284	L	0.56769	1.78	0.41069	D	0.985432	B	0.20052	0.041	B	0.21360	0.034	T	0.06058	-1.0848	10	0.23891	T	0.37	-15.1894	7.6866	0.28544	0.0:0.7872:0.0:0.2128	.	9	Q9Y231	FUT9_HUMAN	V	9	ENSP00000302599:L9V	ENSP00000302599:L9V	L	+	1	0	FUT9	96757777	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.865000	0.48412	2.780000	0.95670	0.655000	0.94253	CTT		0.393	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		15	69	0	0	0	0	15	69				
FUT9	10690	broad.mit.edu	37	6	96651727	96651727	+	Silent	SNP	T	T	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:96651727T>C	ENST00000302103.5	+	3	1022	c.696T>C	c.(694-696)atT>atC	p.I232I		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	232					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AAAATTTGATTCCTACCATAT	0.358																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3		NA																	0				skin(4)|ovary(1)	5						c.(694-696)ATT>ATC		fucosyltransferase 9 (alpha (1,3)							45.0	45.0	45.0					6																	96651727		2203	4300	6503	SO:0001819	synonymous_variant	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651727T>C	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.696T>C	6.37:g.96651727T>C							p.I232I	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	1037	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	232			Lumenal (Potential).		Q5T0W4	Silent	SNP	ENST00000302103.5	37	c.696T>C	CCDS5033.1																																																																																				0.358	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		5	21	0	0	0	0	5	21				
TMEM200A	114801	broad.mit.edu	37	6	130762242	130762243	+	Missense_Mutation	DNP	CG	CG	GT			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:130762242_130762243CG>GT	ENST00000296978.3	+	3	1546_1547	c.675_676CG>GT	c.(673-678)tcCGtg>tcGTtg	p.V226L	TMEM200A_ENST00000392429.1_Missense_Mutation_p.V226L|TMEM200A_ENST00000545622.1_Missense_Mutation_p.V226L	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	226						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGGACAGCTCCGTGGAGGAGGA	0.49																																						uc003qca.2		NA																	0				ovary(1)	1						c.(673-678)TCCGTG>TCGTTG		transmembrane protein 200A																																				SO:0001583	missense	114801					integral to membrane		g.chr6:130762242_130762243CG>GT	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	Exception_encountered	6.37:g.130762242_130762243delinsGT	ENSP00000296978:p.Val226Leu					TMEM200A_uc010kfh.2_Missense_Mutation_p.V226L|TMEM200A_uc010kfi.2_Missense_Mutation_p.V226L|TMEM200A_uc003qcb.2_Missense_Mutation_p.V226L	p.V226L	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1546_1547	+			226			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	DNP	ENST00000296978.3	37	c.675_676CG>GT	CCDS5140.1																																																																																				0.490	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		6	44	0	0	0	0	6	44				
TAAR6	319100	broad.mit.edu	37	6	132891511	132891511	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:132891511C>A	ENST00000275198.1	+	1	51	c.51C>A	c.(49-51)aaC>aaA	p.N17K		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	17					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.N17K(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GCTACGCGAACGTGAATGGGT	0.493																																						uc011eck.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(49-51)AAC>AAA		trace amine associated receptor 6							119.0	112.0	115.0					6																	132891511		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891511C>A	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.51C>A	6.37:g.132891511C>A	ENSP00000275198:p.Asn17Lys						p.N17K	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	51	+	Breast(56;0.112)		17			Extracellular (Potential).		Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.51C>A	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	C	7.682	0.689241	0.14973	.	.	ENSG00000146383	ENST00000275198	T	0.61510	0.1	4.99	-5.69	0.02428	.	0.392376	0.20710	U	0.087101	T	0.24699	0.0599	M	0.66439	2.03	0.09310	N	1	B	0.22604	0.072	B	0.28849	0.095	T	0.31364	-0.9946	10	0.29301	T	0.29	-2.2376	4.8735	0.13644	0.0906:0.3466:0.0894:0.4733	.	17	Q96RI8	TAAR6_HUMAN	K	17	ENSP00000275198:N17K	ENSP00000275198:N17K	N	+	3	2	TAAR6	132933204	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.166000	0.01273	-1.551000	0.01706	-2.497000	0.00192	AAC		0.493	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		18	76	1	0	2.35e-11	4.54e-11	18	76				
TAAR1	134864	broad.mit.edu	37	6	132966284	132966284	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:132966284C>G	ENST00000275216.1	-	1	858	c.859G>C	c.(859-861)Gat>Cat	p.D287H		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	287					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	ATCAATACATCATTCAAAGTA	0.373																																						uc003qdm.1		NA																	0					0						c.(859-861)GAT>CAT		trace amine associated receptor 1	Amphetamine(DB00182)						80.0	74.0	76.0					6																	132966284		2203	4298	6501	SO:0001583	missense	134864					plasma membrane		g.chr6:132966284C>G	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.859G>C	6.37:g.132966284C>G	ENSP00000275216:p.Asp287His						p.D287H	NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	859	-	Breast(56;0.135)		287			Extracellular (Potential).		Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.859G>C	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907451	0.33721	.	.	ENSG00000146399	ENST00000275216	T	0.36878	1.23	5.94	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.216554	0.46758	D	0.000280	T	0.49813	0.1579	M	0.74389	2.26	0.44816	D	0.997825	D	0.65815	0.995	P	0.61874	0.895	T	0.57854	-0.7739	10	0.62326	D	0.03	-6.44	17.0728	0.86579	0.0:0.8731:0.1269:0.0	.	287	Q96RJ0	TAAR1_HUMAN	H	287	ENSP00000275216:D287H	ENSP00000275216:D287H	D	-	1	0	TAAR1	133007977	1.000000	0.71417	0.031000	0.17742	0.119000	0.20118	5.946000	0.70234	1.475000	0.48197	0.557000	0.71058	GAT		0.373	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		10	45	0	0	0	0	10	45				
EYA4	2070	broad.mit.edu	37	6	133802716	133802716	+	Silent	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:133802716G>T	ENST00000367895.5	+	12	1550	c.1086G>T	c.(1084-1086)ccG>ccT	p.P362P	EYA4_ENST00000355167.3_Silent_p.P362P|EYA4_ENST00000525849.1_Silent_p.P339P|EYA4_ENST00000452339.2_Silent_p.P308P|EYA4_ENST00000531901.1_Silent_p.P368P|EYA4_ENST00000430974.2_Silent_p.P314P|EYA4_ENST00000355286.6_Silent_p.P339P|EYA4_ENST00000431403.2_Silent_p.P362P	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	362					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ATCCCTCCCCGCCTCCTGATA	0.448																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NA																	0				large_intestine(2)	2						c.(1084-1086)CCG>CCT		eyes absent 4 isoform a							111.0	116.0	114.0					6																	133802716		2203	4300	6503	SO:0001819	synonymous_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133802716G>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1086G>T	6.37:g.133802716G>T						EYA4_uc011ecq.1_Silent_p.P308P|EYA4_uc011ecr.1_Silent_p.P314P|EYA4_uc003qed.3_Silent_p.P362P|EYA4_uc003qee.3_Silent_p.P339P|EYA4_uc011ecs.1_Silent_p.P368P|uc003qef.1_Intron	p.P362P	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	12	1544	+	Colorectal(23;0.221)		362					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	c.1086G>T	CCDS5165.1																																																																																				0.448	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		23	82	1	0	7.42e-09	1.38e-08	23	82				
SYNE1	23345	broad.mit.edu	37	6	152554980	152554980	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:152554980C>T	ENST00000367255.5	-	112	21249	c.20648G>A	c.(20647-20649)cGc>cAc	p.R6883H	SYNE1_ENST00000423061.1_Missense_Mutation_p.R6812H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6883H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6812H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6495H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R1407H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6883					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTATCAATGCGCGACAGCTC	0.512										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(20647-20649)CGC>CAC		spectrin repeat containing, nuclear envelope 1							87.0	76.0	80.0					6																	152554980		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152554980C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20648G>A	6.37:g.152554980C>T	ENSP00000356224:p.Arg6883His	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.R1407H|SYNE1_uc003qos.3_Missense_Mutation_p.R1407H|SYNE1_uc003qot.3_Missense_Mutation_p.R6812H|SYNE1_uc003qou.3_Missense_Mutation_p.R6883H	p.R6883H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	112	21250	-		Ovarian(120;0.0955)	6883			Spectrin 21.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.20648G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	8.843	0.942616	0.18281	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.82	5.93	2.29	0.28610	.	0.515331	0.19330	N	0.116909	T	0.12603	0.0306	L	0.29908	0.895	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.33828	-0.9853	10	0.15066	T	0.55	.	9.4189	0.38539	0.0:0.2041:0.0:0.7959	.	6883;6883;6812	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	H	6883;6812;6883;6812;6495;1407	ENSP00000356224:R6883H;ENSP00000396024:R6812H;ENSP00000265368:R6883H;ENSP00000390975:R6812H;ENSP00000341887:R6495H;ENSP00000349276:R1407H	ENSP00000265368:R6883H	R	-	2	0	SYNE1	152596673	0.768000	0.28519	0.025000	0.17156	0.643000	0.38383	1.130000	0.31393	0.164000	0.19529	-1.063000	0.02288	CGC		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		10	39	0	0	0	0	10	39				
RSPH3	83861	broad.mit.edu	37	6	159420840	159420840	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:159420840C>G	ENST00000252655.1	-	1	358	c.169G>C	c.(169-171)Gac>Cac	p.D57H	RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RSPH3_ENST00000449822.1_5'Flank|RSPH3_ENST00000297262.3_Missense_Mutation_p.D57H|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	57										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AGGGTTCTGTCTGGGGGCGGG	0.682																																						uc003qrx.2		NA																	0				ovary(1)|skin(1)	2						c.(169-171)GAC>CAC		radial spoke 3 homolog							29.0	38.0	35.0					6																	159420840		2200	4295	6495	SO:0001583	missense	83861							g.chr6:159420840C>G	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.169G>C	6.37:g.159420840C>G	ENSP00000252655:p.Asp57His					RSPH3_uc010kju.2_Missense_Mutation_p.D57H|RSPH3_uc003qry.1_Missense_Mutation_p.D57H	p.D57H	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	1	359	-		Breast(66;0.00519)|Ovarian(120;0.123)	57					Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	c.169G>C	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111166	0.37242	.	.	ENSG00000130363	ENST00000252655;ENST00000297262	T;T	0.15834	2.5;2.39	5.07	-1.43	0.08884	.	1.393470	0.04567	N	0.392553	T	0.05640	0.0148	N	0.24115	0.695	0.09310	N	1	P;P	0.49447	0.924;0.697	P;B	0.47941	0.562;0.275	T	0.16660	-1.0395	10	0.59425	D	0.04	0.038	4.5194	0.11952	0.1465:0.4422:0.0:0.4113	.	57;57	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	H	57	ENSP00000252655:D57H;ENSP00000297262:D57H	ENSP00000252655:D57H	D	-	1	0	RSPH3	159340828	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.645000	0.05409	-0.266000	0.09339	-0.274000	0.10170	GAC		0.682	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		13	66	0	0	0	0	13	66				
COL28A1	340267	broad.mit.edu	37	7	7412695	7412695	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:7412695C>G	ENST00000399429.3	-	32	2982	c.2842G>C	c.(2842-2844)Gaa>Caa	p.E948Q		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	948	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGATTCATTTCTTTGTGGAAT	0.428																																						uc003src.1		NA																	0				skin(3)	3						c.(2842-2844)GAA>CAA		collagen, type XXVIII precursor							128.0	120.0	122.0					7																	7412695		1848	4092	5940	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7412695C>G	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2842G>C	7.37:g.7412695C>G	ENSP00000382356:p.Glu948Gln					COL28A1_uc011jxe.1_Missense_Mutation_p.E631Q	p.E948Q	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	32	2959	-		Ovarian(82;0.0789)	948			VWFA 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.2842G>C	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354861	0.82243	.	.	ENSG00000215018	ENST00000399429	D	0.85171	-1.95	4.09	4.09	0.47781	von Willebrand factor, type A (3);	0.000000	0.53938	U	0.000046	D	0.91341	0.7269	M	0.70787	2.145	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.91309	0.5073	10	0.44086	T	0.13	-20.862	16.8665	0.86030	0.0:1.0:0.0:0.0	.	948	Q2UY09	COSA1_HUMAN	Q	948	ENSP00000382356:E948Q	ENSP00000382356:E948Q	E	-	1	0	COL28A1	7379220	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	7.416000	0.80143	2.284000	0.76573	0.655000	0.94253	GAA		0.428	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		8	39	0	0	0	0	8	39				
TRGC1	6966	broad.mit.edu	37	7	38305125	38305125	+	RNA	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:38305125G>T	ENST00000443402.2	-	0	154					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											CCAGAATCGTGTTGCTCTTCT	0.418																																						uc003tge.1		NA																	0					0						c.(580-582)AAC>AAA		Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.							166.0	170.0	169.0					7																	38305125		1818	4072	5890			445347							g.chr7:38305125G>T	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38305125G>T						uc003tfz.1_Intron|TARP_uc003tgb.2_5'UTR|TARP_uc003tgc.1_5'UTR|TARP_uc003tgd.1_5'UTR|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA	p.N194K			A2JGV3	A2JGV3_HUMAN			5	959	-			Error:Variant_position_missing_in_A2JGV3_after_alignment						Missense_Mutation	SNP	ENST00000443402.2	37	c.582C>A																																																																																					0.418	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		20	183	1	0	6.13e-19	1.23e-18	20	183				
PKD1L1	168507	broad.mit.edu	37	7	47913505	47913505	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:47913505G>A	ENST00000289672.2	-	24	3938	c.3888C>T	c.(3886-3888)ggC>ggT	p.G1296G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1296	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGGTCCTCGCCCAGACAGT	0.502																																						uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(3886-3888)GGC>GGT		polycystin-1L1							117.0	95.0	102.0					7																	47913505		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47913505G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3888C>T	7.37:g.47913505G>A							p.G1296G	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			24	3888	-			1296			Extracellular (Potential).|REJ.		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.3888C>T	CCDS34633.1																																																																																				0.502	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		6	42	0	0	0	0	6	42				
EGFR	1956	broad.mit.edu	37	7	55221793	55221793	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:55221793G>A	ENST00000275493.2	+	7	1014	c.837G>A	c.(835-837)gtG>gtA	p.V279V	EGFR_ENST00000454757.2_Silent_p.V226V|EGFR_ENST00000455089.1_Silent_p.V234V|EGFR_ENST00000442591.1_Silent_p.V279V|EGFR_ENST00000342916.3_Silent_p.V279V|EGFR_ENST00000420316.2_Silent_p.V279V|EGFR_ENST00000344576.2_Silent_p.V279V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	279			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGATGGATGTGAACCCCGAGG	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(835-837)GTG>GTA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						188.0	149.0	162.0					7																	55221793		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221793G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.837G>A	7.37:g.55221793G>A		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Silent_p.V279V|EGFR_uc003tqi.2_Silent_p.V279V|EGFR_uc003tqj.2_Silent_p.V279V|EGFR_uc010kzg.1_Silent_p.V234V|EGFR_uc011kco.1_Silent_p.V226V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.V279V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1083	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		279			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.837G>A	CCDS5514.1																																																																																				0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		7	67	0	0	0	0	7	67				
AKAP9	10142	broad.mit.edu	37	7	91730347	91730347	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:91730347G>C	ENST00000359028.2	+	45	11311	c.11086G>C	c.(11086-11088)Gat>Cat	p.D3696H	AKAP9_ENST00000358100.2_Missense_Mutation_p.D3642H|AKAP9_ENST00000356239.3_Missense_Mutation_p.D3692H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3696					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCTGAGCCCTGATTCTGAACA	0.383			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(11074-11076)GAT>CAT		A-kinase anchor protein 9 isoform 2							65.0	65.0	65.0					7																	91730347		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91730347G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11086G>C	7.37:g.91730347G>C	ENSP00000351922:p.Asp3696His					AKAP9_uc003ulf.2_Missense_Mutation_p.D3684H|AKAP9_uc003uli.2_Missense_Mutation_p.D3315H|AKAP9_uc003ulj.2_Missense_Mutation_p.D1462H|AKAP9_uc003ull.2_Missense_Mutation_p.D588H	p.D3692H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		45	11299	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3696					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.11074G>C		.	.	.	.	.	.	.	.	.	.	G	8.322	0.824515	0.16678	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03772	3.91;3.9;3.92;3.81	5.28	4.33	0.51752	.	0.197190	0.24864	N	0.034984	T	0.16257	0.0391	M	0.63428	1.95	0.23802	N	0.996805	P;D;D;D;D	0.69078	0.942;0.995;0.995;0.997;0.997	P;P;P;D;D	0.63192	0.602;0.847;0.819;0.912;0.912	T	0.00664	-1.1620	10	0.72032	D	0.01	.	14.4923	0.67660	0.0808:0.0:0.9192:0.0	.	967;3696;3696;3692;3684	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	H	3692;3696;3642;3696;1538	ENSP00000348573:D3692H;ENSP00000351922:D3696H;ENSP00000350813:D3642H;ENSP00000378042:D1538H	ENSP00000348573:D3692H	D	+	1	0	AKAP9	91568283	0.999000	0.42202	0.982000	0.44146	0.379000	0.30106	3.952000	0.56691	2.751000	0.94390	0.555000	0.69702	GAT		0.383	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		7	29	0	0	0	0	7	29				
ZKSCAN5	23660	broad.mit.edu	37	7	99124010	99124010	+	Silent	SNP	A	A	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:99124010A>G	ENST00000394170.2	+	6	1598	c.1347A>G	c.(1345-1347)ctA>ctG	p.L449L	ZKSCAN5_ENST00000451158.1_Silent_p.L449L|ZKSCAN5_ENST00000326775.5_Silent_p.L449L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCGAACACCTAAAACGCCACT	0.502																																						uc003uqv.2		NA																	0				ovary(1)	1						c.(1345-1347)CTA>CTG		zinc finger with KRAB and SCAN domains 5							179.0	181.0	181.0					7																	99124010		2203	4300	6503	SO:0001819	synonymous_variant	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99124010A>G	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1347A>G	7.37:g.99124010A>G						ZKSCAN5_uc010lfx.2_Silent_p.L449L|ZKSCAN5_uc003uqw.2_Silent_p.L449L|ZKSCAN5_uc003uqx.2_Silent_p.L376L|ZKSCAN5_uc003uqy.2_Silent_p.L185L	p.L449L	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN			6	1471	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		449			C2H2-type 4.		A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	37	c.1347A>G	CCDS5667.1																																																																																				0.502	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		54	173	0	0	0	0	54	173				
MUC17	140453	broad.mit.edu	37	7	100679091	100679091	+	Missense_Mutation	SNP	C	C	A	rs560666815	byFrequency	TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:100679091C>A	ENST00000306151.4	+	3	4458	c.4394C>A	c.(4393-4395)aCg>aAg	p.T1465K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1465	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCAACACGCCGGTGGCC	0.473																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4393-4395)ACG>AAG		mucin 17 precursor							184.0	199.0	194.0					7																	100679091		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679091C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4394C>A	7.37:g.100679091C>A	ENSP00000302716:p.Thr1465Lys					MUC17_uc010lho.1_RNA	p.T1465K	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4447	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1465			Extracellular (Potential).|Ser-rich.|22.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4394C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.088	-1.172369	0.01646	.	.	ENSG00000169876	ENST00000306151	T	0.02421	4.3	0.726	-1.45	0.08828	.	.	.	.	.	T	0.01627	0.0052	L	0.29908	0.895	0.09310	N	1	P	0.42584	0.784	B	0.26094	0.066	T	0.40440	-0.9563	9	0.26408	T	0.33	.	5.7615	0.18203	0.0:0.5478:0.0:0.4522	.	1465	Q685J3	MUC17_HUMAN	K	1465	ENSP00000302716:T1465K	ENSP00000302716:T1465K	T	+	2	0	MUC17	100465811	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-2.965000	0.00288	-3.221000	0.00052	ACG		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		80	288	1	0	5.42e-27	1.1e-26	80	288				
FBXL13	222235	broad.mit.edu	37	7	102665637	102665637	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:102665637C>A	ENST00000313221.4	-	6	794	c.368G>T	c.(367-369)aGg>aTg	p.R123M	FBXL13_ENST00000379306.3_Missense_Mutation_p.R123M|FBXL13_ENST00000436908.1_Missense_Mutation_p.R123M|FBXL13_ENST00000455112.2_Missense_Mutation_p.R123M|FBXL13_ENST00000456695.1_Missense_Mutation_p.R123M|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000393772.2_Missense_Mutation_p.R123M|FBXL13_ENST00000379308.3_Missense_Mutation_p.R123M|FBXL13_ENST00000379305.3_Missense_Mutation_p.R123M	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	123										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GAGTATTAACCTATTTTTCCA	0.318																																						uc003vaq.2		NA																	0					0						c.(367-369)AGG>ATG		F-box and leucine-rich repeat protein 13 isoform							46.0	44.0	45.0					7																	102665637		2201	4297	6498	SO:0001583	missense	222235							g.chr7:102665637C>A	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.368G>T	7.37:g.102665637C>A	ENSP00000321927:p.Arg123Met					FBXL13_uc010liq.1_Translation_Start_Site|FBXL13_uc010lir.1_Missense_Mutation_p.R123M|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.R123M|FBXL13_uc003vav.2_RNA	p.R123M	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			6	795	-			123					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.368G>T	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720867	0.48728	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.08458	3.25;3.25;3.09;3.25;3.25;3.25;3.09;3.25	4.12	-3.05	0.05396	.	1.223940	0.05881	N	0.626380	T	0.05777	0.0151	N	0.22421	0.69	0.09310	N	1	P;P;P	0.44380	0.746;0.834;0.744	B;B;B	0.36134	0.218;0.218;0.165	T	0.41448	-0.9508	10	0.62326	D	0.03	.	9.9778	0.41795	0.0:0.6104:0.0:0.3896	.	123;123;123	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	M	123;123;123;50;123;123;123;123;123	ENSP00000377367:R123M;ENSP00000368610:R123M;ENSP00000368608:R123M;ENSP00000368607:R123M;ENSP00000388608:R123M;ENSP00000321927:R123M;ENSP00000409716:R123M;ENSP00000391550:R123M	ENSP00000321927:R123M	R	-	2	0	FBXL13	102452873	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.232000	0.09055	-0.686000	0.05170	-0.367000	0.07326	AGG		0.318	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		8	19	1	0	0.000442599	0.00074735	8	19				
RELN	5649	broad.mit.edu	37	7	103237037	103237037	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:103237037C>A	ENST00000428762.1	-	25	3564	c.3405G>T	c.(3403-3405)caG>caT	p.Q1135H	RELN_ENST00000343529.5_Missense_Mutation_p.Q1135H|RELN_ENST00000424685.2_Missense_Mutation_p.Q1135H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1135					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCCGCCTATCTGGATGTAGA	0.502																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(3403-3405)CAG>CAT		reelin isoform a							127.0	116.0	119.0					7																	103237037		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103237037C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3405G>T	7.37:g.103237037C>A	ENSP00000392423:p.Gln1135His					RELN_uc010liz.2_Missense_Mutation_p.Q1135H	p.Q1135H	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	25	3565	-			1135					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3405G>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942381	0.73672	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25085	1.82;1.82;1.82	5.81	3.08	0.35506	.	0.062472	0.64402	D	0.000003	T	0.46483	0.1395	M	0.73217	2.22	0.39690	D	0.971027	D;D	0.67145	0.996;0.992	P;D	0.72075	0.878;0.976	T	0.42120	-0.9470	10	0.52906	T	0.07	.	11.1248	0.48310	0.0:0.8016:0.0:0.1984	.	1135;1135	P78509-2;P78509	.;RELN_HUMAN	H	1135	ENSP00000392423:Q1135H;ENSP00000345694:Q1135H;ENSP00000388446:Q1135H	ENSP00000345694:Q1135H	Q	-	3	2	RELN	103024273	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.016000	0.29976	0.404000	0.25506	-0.145000	0.13849	CAG		0.502	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		24	102	1	0	4.72e-08	8.75e-08	24	102				
HYAL4	23553	broad.mit.edu	37	7	123516942	123516942	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:123516942C>T	ENST00000223026.4	+	5	1817	c.1179C>T	c.(1177-1179)aaC>aaT	p.N393N	HYAL4_ENST00000476325.1_Silent_p.N393N	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	393					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGATGTGGAACGCGCCCAGTT	0.507																																						uc003vlc.2		NA																	0				skin(1)	1						c.(1177-1179)AAC>AAT		hyaluronoglucosaminidase 4							138.0	126.0	130.0					7																	123516942		2203	4300	6503	SO:0001819	synonymous_variant	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123516942C>T	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.1179C>T	7.37:g.123516942C>T						HYAL4_uc011knz.1_3'UTR	p.N393N	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			5	1817	+			393			Extracellular (Potential).		D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	ENST00000223026.4	37	c.1179C>T	CCDS5789.1																																																																																				0.507	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		10	60	0	0	0	0	10	60				
PRSS58	136541	broad.mit.edu	37	7	141952173	141952173	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:141952173C>T	ENST00000552471.1	-	5	913	c.594G>A	c.(592-594)ccG>ccA	p.P198P	PRSS58_ENST00000547058.2_Silent_p.P198P			Q8IYP2	PRS58_HUMAN	protease, serine, 58	198	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TGCAGATTGCCGGGGCAGCAG	0.393																																						uc003vxb.2		NA																	0					0						c.(592-594)CCG>CCA		trypsin X3 precursor							49.0	51.0	50.0					7																	141952173		2203	4300	6503	SO:0001819	synonymous_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952173C>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.594G>A	7.37:g.141952173C>T						TRYX3_uc003vxc.3_Silent_p.P198P	p.P198P	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN			5	914	-	Melanoma(164;0.0272)		198			Peptidase S1.		B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	c.594G>A	CCDS5871.1																																																																																				0.393	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		7	31	0	0	0	0	7	31				
OR2A14	135941	broad.mit.edu	37	7	143826781	143826781	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:143826781G>C	ENST00000408899.2	+	1	631	c.576G>C	c.(574-576)tgG>tgC	p.W192C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CTGACACCTGGCTCAACCAGG	0.562																																						uc011kua.1		NA																	0					0						c.(574-576)TGG>TGC		olfactory receptor, family 2, subfamily A,							156.0	160.0	159.0					7																	143826781		1990	4174	6164	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826781G>C		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.576G>C	7.37:g.143826781G>C	ENSP00000386137:p.Trp192Cys						p.W192C	NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN			1	576	+	Melanoma(164;0.0783)		192			Extracellular (Potential).		Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.576G>C	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	G	3.588	-0.084203	0.07097	.	.	ENSG00000221938	ENST00000408899	T	0.00076	8.76	4.18	-1.11	0.09840	GPCR, rhodopsin-like superfamily (1);	2.444630	0.02359	U	0.076740	T	0.00241	0.0007	L	0.46157	1.445	0.20821	N	0.999841	D	0.55385	0.971	P	0.58391	0.838	T	0.43196	-0.9406	10	0.38643	T	0.18	0.0877	1.2458	0.01973	0.3522:0.1401:0.3646:0.1431	.	192	Q96R47	O2A14_HUMAN	C	192	ENSP00000386137:W192C	ENSP00000386137:W192C	W	+	3	0	OR2A14	143457714	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-2.567000	0.00916	-0.370000	0.08016	-0.254000	0.11334	TGG		0.562	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			48	240	0	0	0	0	48	240				
SSPO	23145	broad.mit.edu	37	7	149486333	149486333	+	RNA	SNP	C	C	A	rs188138424	byFrequency	TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:149486333C>A	ENST00000378016.2	+	0	4309							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTCTGTGACCGCCAGGATGA	0.687																																						uc010lpk.2		NA																	0					0						c.(4309-4311)CGC>AGC		SCO-spondin precursor							24.0	29.0	27.0					7																	149486333		2185	4281	6466			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149486333C>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486333C>A							p.R1437S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		30	4309	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1437			LDL-receptor class A 2.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.4309C>A																																																																																					0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				6	29	1	0	0.00198382	0.00329456	6	29				
RARRES2	5919	broad.mit.edu	37	7	150036164	150036164	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr7:150036164G>C	ENST00000466675.1	-	3	1319	c.286C>G	c.(286-288)Cgg>Ggg	p.R96G	RP4-584D14.7_ENST00000563946.1_RNA|RARRES2_ENST00000482669.1_Missense_Mutation_p.R96G|RARRES2_ENST00000223271.3_Missense_Mutation_p.R96G			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	96					brown fat cell differentiation (GO:0050873)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of protein phosphorylation (GO:0001934)|regulation of lipid catabolic process (GO:0050994)|retinoid metabolic process (GO:0001523)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGGCATTTCCGTTTCCTCTGT	0.617																																						uc003wha.2		NA																	0				pancreas(1)	1						c.(286-288)CGG>GGG		chemerin preproprotein							90.0	80.0	83.0					7																	150036164		2203	4300	6503	SO:0001583	missense	5919				embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding	g.chr7:150036164G>C	U77594	CCDS5902.1	7q36.1	2013-02-25			ENSG00000106538	ENSG00000106538		"""Endogenous ligands"""	9868	protein-coding gene	gene with protein product	"""chemerin"""	601973				9270552, 17767914	Standard	NM_002889		Approved	TIG2, HP10433	uc003wha.3	Q99969	OTTHUMG00000158325	ENST00000466675.1:c.286C>G	7.37:g.150036164G>C	ENSP00000418009:p.Arg96Gly					RARRES2_uc010lpp.1_Missense_Mutation_p.R96G	p.R96G	NM_002889	NP_002880	Q99969	RARR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	403	-			96					Q7LE02	Missense_Mutation	SNP	ENST00000466675.1	37	c.286C>G	CCDS5902.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256085	0.59321	.	.	ENSG00000106538	ENST00000223271;ENST00000467793;ENST00000466675;ENST00000482669	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	4.55	3.58	0.41010	.	0.157235	0.29348	N	0.012407	T	0.31606	0.0802	M	0.69823	2.125	0.35307	D	0.783537	D	0.89917	1.0	D	0.85130	0.997	T	0.30534	-0.9975	10	0.46703	T	0.11	-32.9424	8.9301	0.35666	0.0:0.0:0.7612:0.2388	.	96	Q99969	RARR2_HUMAN	G	96	ENSP00000223271:R96G;ENSP00000417669:R96G;ENSP00000418009:R96G;ENSP00000418483:R96G	ENSP00000223271:R96G	R	-	1	2	RARRES2	149667097	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.820000	0.48057	2.377000	0.81083	0.485000	0.47835	CGG		0.617	RARRES2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350693.1			18	76	0	0	0	0	18	76				
ARHGEF10	9639	broad.mit.edu	37	8	1876769	1876769	+	Silent	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:1876769G>C	ENST00000398564.1	+	24	2949	c.2949G>C	c.(2947-2949)gtG>gtC	p.V983V	ARHGEF10_ENST00000349830.3_Silent_p.V958V|ARHGEF10_ENST00000518288.1_Silent_p.V982V|ARHGEF10_ENST00000520359.1_Silent_p.V920V|ARHGEF10_ENST00000262112.6_Silent_p.V954V			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	983					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCCCGGCCGTGAGAGCTTCTG	0.612																																						uc003wpr.2		NA																	0				large_intestine(1)	1						c.(2872-2874)GTG>GTC		Rho guanine nucleotide exchange factor 10							53.0	53.0	53.0					8																	1876769		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1876769G>C	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2949G>C	8.37:g.1876769G>C						ARHGEF10_uc003wps.2_Silent_p.V920V|ARHGEF10_uc010lre.2_Silent_p.V609V	p.V958V	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	24	3052	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	983					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.2874G>C																																																																																					0.612	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				6	60	0	0	0	0	6	60				
CSMD1	64478	broad.mit.edu	37	8	3256980	3256980	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:3256980C>G	ENST00000520002.1	-	17	2896	c.2341G>C	c.(2341-2343)Gat>Cat	p.D781H	CSMD1_ENST00000602557.1_Missense_Mutation_p.D781H|CSMD1_ENST00000602723.1_Missense_Mutation_p.D781H|CSMD1_ENST00000539096.1_Missense_Mutation_p.D780H|CSMD1_ENST00000537824.1_Missense_Mutation_p.D780H|CSMD1_ENST00000400186.3_Missense_Mutation_p.D781H|CSMD1_ENST00000542608.1_Missense_Mutation_p.D780H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	781	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTAAAGAATCCTTATAATAT	0.388																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(2341-2343)GAT>CAT		CUB and Sushi multiple domains 1 precursor							94.0	91.0	92.0					8																	3256980		1867	4099	5966	SO:0001583	missense	64478					integral to membrane		g.chr8:3256980C>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2341G>C	8.37:g.3256980C>G	ENSP00000430733:p.Asp781His					CSMD1_uc011kwj.1_Missense_Mutation_p.D173H	p.D781H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	16	2731	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	781			Extracellular (Potential).|CUB 5.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.2341G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.637125|4.637125	0.87760|0.87760	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.18810|.	2.19;2.19;2.19;2.19;2.19|.	5.35|5.35	5.35|5.35	0.76521|0.76521	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.54224|0.54224	0.1845|0.1845	N|N	0.17674|0.17674	0.51|0.51	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.47959|0.47959	-0.9076|-0.9076	10|5	0.41790|.	T|.	0.15|.	.|.	19.4376|19.4376	0.94804|0.94804	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	781;781|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	H|A	781;781;643;780;780;780|260	ENSP00000383047:D781H;ENSP00000430733:D781H;ENSP00000441462:D780H;ENSP00000446243:D780H;ENSP00000441675:D780H|.	ENSP00000320445:D643H|.	D|G	-|-	1|2	0|0	CSMD1|CSMD1	3244387|3244387	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	7.593000|7.593000	0.82686|0.82686	2.660000|2.660000	0.90430|0.90430	0.467000|0.467000	0.42956|0.42956	GAT|GGA		0.388	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		12	48	0	0	0	0	12	48				
PNOC	5368	broad.mit.edu	37	8	28196682	28196682	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:28196682C>T	ENST00000301908.3	+	3	460	c.252C>T	c.(250-252)ctC>ctT	p.L84L	RP11-380I10.4_ENST00000521731.1_RNA|PNOC_ENST00000522209.1_Silent_p.L20L	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	84					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CGGCTGCTCTCTACCAGCCGA	0.652																																						uc010lva.2		NA																	0				central_nervous_system(1)	1						c.(250-252)CTC>CTT		prepronociceptin precursor							27.0	31.0	29.0					8																	28196682		2202	4300	6502	SO:0001819	synonymous_variant	5368				neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:28196682C>T		CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"""Endogenous ligands"""	9163	protein-coding gene	gene with protein product	"""nocistatin"""	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.252C>T	8.37:g.28196682C>T						PNOC_uc003xgp.2_Silent_p.L84L|PNOC_uc011lau.1_Silent_p.L20L	p.L84L	NM_006228	NP_006219	Q13519	PNOC_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)	3	460	+		Ovarian(32;0.000953)	84					B7Z749|Q6FH16	Silent	SNP	ENST00000301908.3	37	c.252C>T	CCDS6066.1																																																																																				0.652	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219964.2	NM_006228		12	63	0	0	0	0	12	63				
TEX15	56154	broad.mit.edu	37	8	30695362	30695362	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:30695362T>A	ENST00000256246.2	-	3	7363	c.7289A>T	c.(7288-7290)gAa>gTa	p.E2430V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2430					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTTAAATTTTCCTGTTGTCC	0.358																																						uc003xil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(7288-7290)GAA>GTA		testis expressed 15							191.0	193.0	193.0					8																	30695362		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30695362T>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7289A>T	8.37:g.30695362T>A	ENSP00000256246:p.Glu2430Val						p.E2430V	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7289	-			2430						Missense_Mutation	SNP	ENST00000256246.2	37	c.7289A>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315781	0.23908	.	.	ENSG00000133863	ENST00000256246	T	0.13307	2.6	4.61	-1.2	0.09554	.	0.885835	0.09540	N	0.788416	T	0.08670	0.0215	N	0.19112	0.55	0.09310	N	1	P	0.36837	0.571	B	0.35607	0.206	T	0.32455	-0.9906	10	0.87932	D	0	.	8.1977	0.31407	0.0:0.3262:0.0:0.6738	.	2430	Q9BXT5	TEX15_HUMAN	V	2430	ENSP00000256246:E2430V	ENSP00000256246:E2430V	E	-	2	0	TEX15	30814904	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.440000	0.06888	-0.131000	0.11578	-0.464000	0.05259	GAA		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			39	157	0	0	0	0	39	157				
KAT6A	7994	broad.mit.edu	37	8	41791507	41791507	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:41791507C>G	ENST00000396930.3	-	18	4774	c.4231G>C	c.(4231-4233)Gag>Cag	p.E1411Q	KAT6A_ENST00000406337.1_Missense_Mutation_p.E1411Q|KAT6A_ENST00000265713.2_Missense_Mutation_p.E1411Q	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1411	Poly-Glu.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCTTCCTCCTCTTTTAATTCG	0.507																																						uc010lxb.2		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(4231-4233)GAG>CAG		MYST histone acetyltransferase (monocytic							102.0	95.0	97.0					8																	41791507		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|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 coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41791507C>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4231G>C	8.37:g.41791507C>G	ENSP00000380136:p.Glu1411Gln					MYST3_uc010lxc.2_Missense_Mutation_p.E1411Q|MYST3_uc003xon.3_Missense_Mutation_p.E1411Q	p.E1411Q	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		18	4775	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	1411			Poly-Glu.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.4231G>C	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956071	0.34471	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.60672	0.17;0.17;0.17	5.96	5.96	0.96718	.	0.066977	0.64402	D	0.000008	T	0.62502	0.2433	N	0.24115	0.695	0.36502	D	0.869088	D	0.58620	0.983	P	0.62885	0.908	T	0.58476	-0.7630	10	0.16420	T	0.52	-24.0638	20.4043	0.99006	0.0:1.0:0.0:0.0	.	1411	Q92794	KAT6A_HUMAN	Q	1411	ENSP00000265713:E1411Q;ENSP00000385888:E1411Q;ENSP00000380136:E1411Q	ENSP00000265713:E1411Q	E	-	1	0	KAT6A	41910664	1.000000	0.71417	0.988000	0.46212	0.249000	0.25844	6.883000	0.75595	2.823000	0.97156	0.650000	0.86243	GAG		0.507	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		20	72	0	0	0	0	20	72				
KAT6A	7994	broad.mit.edu	37	8	41798738	41798738	+	Silent	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:41798738G>C	ENST00000396930.3	-	16	3204	c.2661C>G	c.(2659-2661)ctC>ctG	p.L887L	KAT6A_ENST00000406337.1_Silent_p.L887L|KAT6A_ENST00000265713.2_Silent_p.L887L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	887					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCTCTTCCAAGAGCAGTTTAG	0.483																																						uc010lxb.2		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2659-2661)CTC>CTG		MYST histone acetyltransferase (monocytic							87.0	83.0	85.0					8																	41798738		2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|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 coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798738G>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2661C>G	8.37:g.41798738G>C						MYST3_uc010lxc.2_Silent_p.L887L|MYST3_uc003xon.3_Silent_p.L887L	p.L887L	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		16	3205	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	887					Q76L81	Silent	SNP	ENST00000396930.3	37	c.2661C>G	CCDS6124.1																																																																																				0.483	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		14	58	0	0	0	0	14	58				
AP3M2	10947	broad.mit.edu	37	8	42024827	42024827	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:42024827G>A	ENST00000518421.1	+	8	1240	c.949G>A	c.(949-951)Ggg>Agg	p.G317R	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000396926.3_Missense_Mutation_p.G317R|AP3M2_ENST00000174653.3_Missense_Mutation_p.G317R	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	317	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GATGCCCAAGGGGGTCCTGAA	0.522																																						uc003xop.2		NA																	0					0						c.(949-951)GGG>AGG		adaptor-related protein complex 3, mu 2 subunit							109.0	98.0	102.0					8																	42024827		2203	4300	6503	SO:0001583	missense	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42024827G>A	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.949G>A	8.37:g.42024827G>A	ENSP00000428787:p.Gly317Arg					AP3M2_uc003xoo.2_Missense_Mutation_p.G317R|AP3M2_uc010lxe.2_Intron	p.G317R	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		8	1240	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	317			MHD.		B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	c.949G>A	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838634	0.51057	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.2	5.2	0.72013	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	N	0.20401	0.57	0.80722	D	1	B	0.17667	0.023	B	0.33121	0.158	T	0.07385	-1.0775	10	0.41790	T	0.15	-15.9425	14.0106	0.64493	0.075:0.0:0.925:0.0	.	317	P53677	AP3M2_HUMAN	R	317;317;317;202	ENSP00000428787:G317R;ENSP00000174653:G317R;ENSP00000380132:G317R;ENSP00000430616:G202R	ENSP00000174653:G317R	G	+	1	0	AP3M2	42143984	1.000000	0.71417	0.935000	0.37517	0.892000	0.51952	7.642000	0.83385	2.402000	0.81655	0.655000	0.94253	GGG		0.522	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			11	47	0	0	0	0	11	47				
HOOK3	84376	broad.mit.edu	37	8	42868217	42868217	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:42868217A>T	ENST00000307602.4	+	20	2063	c.1863A>T	c.(1861-1863)aaA>aaT	p.K621N	HOOK3_ENST00000524839.1_3'UTR	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	621	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TAGATCCTAAACAGAATCAAG	0.338			T	RET	papillary thyroid																																	uc003xpr.2		NA		Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				ovary(1)|breast(1)	2						c.(1861-1863)AAA>AAT		golgi-associated microtubule-binding protein							49.0	47.0	48.0					8																	42868217		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42868217A>T	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1863A>T	8.37:g.42868217A>T	ENSP00000305699:p.Lys621Asn						p.K621N	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		20	2105	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	621			Potential.|Required for interaction with MSR1.|Required for association with Golgi.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.1863A>T	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013154	0.75161	.	.	ENSG00000168172	ENST00000307602;ENST00000533539	T;T	0.23950	1.88;1.88	5.72	0.393	0.16294	.	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	M	0.78456	2.415	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.41645	-0.9497	10	0.44086	T	0.13	-35.0789	11.5311	0.50610	0.5776:0.0:0.4224:0.0	.	621	Q86VS8	HOOK3_HUMAN	N	621;99	ENSP00000305699:K621N;ENSP00000433953:K99N	ENSP00000305699:K621N	K	+	3	2	HOOK3	42987374	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	0.520000	0.22878	0.128000	0.18479	-0.256000	0.11100	AAA		0.338	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		6	22	0	0	0	0	6	22				
SNTG1	54212	broad.mit.edu	37	8	51617301	51617301	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:51617301G>A	ENST00000522124.1	+	16	1841	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	SNTG1_ENST00000276467.5_Missense_Mutation_p.E394K|SNTG1_ENST00000517473.1_Missense_Mutation_p.E394K|SNTG1_ENST00000518864.1_Missense_Mutation_p.E394K	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	394					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCTAGAAGTAGAACGGATACA	0.507																																						uc010lxy.1		NA																	0				ovary(5)	5						c.(1180-1182)GAA>AAA		syntrophin, gamma 1							85.0	71.0	76.0					8																	51617301		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51617301G>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1180G>A	8.37:g.51617301G>A	ENSP00000429842:p.Glu394Lys					SNTG1_uc003xqs.1_Missense_Mutation_p.E394K|SNTG1_uc010lxz.1_Missense_Mutation_p.E394K|SNTG1_uc011ldl.1_RNA	p.E394K	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			17	1551	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	394					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1180G>A	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603989	0.46423	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.19	5.19	0.71726	.	0.043926	0.85682	D	0.000000	D	0.83686	0.5308	L	0.50333	1.59	0.80722	D	1	P;D	0.58268	0.767;0.982	P;D	0.67548	0.661;0.952	T	0.79080	-0.1950	10	0.18276	T	0.48	-27.8306	18.0775	0.89432	0.0:0.0:1.0:0.0	.	394;394	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	K	394	ENSP00000429276:E394K;ENSP00000429842:E394K;ENSP00000431123:E394K;ENSP00000276467:E394K	ENSP00000276467:E394K	E	+	1	0	SNTG1	51779854	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.179000	0.77665	2.577000	0.86979	0.643000	0.83706	GAA		0.507	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			4	31	0	0	0	0	4	31				
ST18	9705	broad.mit.edu	37	8	53073977	53073977	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:53073977T>A	ENST00000276480.7	-	14	2235	c.1552A>T	c.(1552-1554)Ata>Tta	p.I518L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	518					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACTGTTTGTATGAGAGGGCGT	0.428																																						uc003xqz.2		NA																	0				ovary(4)|skin(1)	5						c.(1552-1554)ATA>TTA		suppression of tumorigenicity 18							200.0	194.0	196.0					8																	53073977		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53073977T>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1552A>T	8.37:g.53073977T>A	ENSP00000276480:p.Ile518Leu					ST18_uc011ldq.1_Missense_Mutation_p.I165L|ST18_uc011ldr.1_Missense_Mutation_p.I483L|ST18_uc011lds.1_Missense_Mutation_p.I423L|ST18_uc003xra.2_Missense_Mutation_p.I518L|ST18_uc003xrb.2_Missense_Mutation_p.I518L	p.I518L	NM_014682	NP_055497	O60284	ST18_HUMAN			9	1708	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	518					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1552A>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	6.789	0.514597	0.12944	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.41400	1.0;1.0	5.46	-4.34	0.03666	Myelin transcription factor 1 (1);	1.104830	0.06688	N	0.769208	T	0.17577	0.0422	N	0.04959	-0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28586	-1.0039	10	0.11485	T	0.65	0.0223	7.6701	0.28453	0.0:0.2471:0.2384:0.5145	.	518;518	E5RHS3;O60284	.;ST18_HUMAN	L	518	ENSP00000276480:I518L;ENSP00000428521:I518L	ENSP00000276480:I518L	I	-	1	0	ST18	53236530	0.000000	0.05858	0.000000	0.03702	0.780000	0.44128	-0.135000	0.10420	-1.176000	0.02747	-0.479000	0.04858	ATA		0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			24	78	0	0	0	0	24	78				
RP1	6101	broad.mit.edu	37	8	55533682	55533682	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:55533682G>T	ENST00000220676.1	+	2	304	c.156G>T	c.(154-156)agG>agT	p.R52S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	52	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCGGGGTCAGGGTGGTGGTCA	0.557																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(154-156)AGG>AGT		retinitis pigmentosa RP1 protein							122.0	100.0	108.0					8																	55533682		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533682G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.156G>T	8.37:g.55533682G>T	ENSP00000220676:p.Arg52Ser					RP1_uc011ldy.1_Missense_Mutation_p.R52S	p.R52S	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	304	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	52			Doublecortin 1.			Missense_Mutation	SNP	ENST00000220676.1	37	c.156G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874629	0.33069	.	.	ENSG00000104237	ENST00000220676	D	0.87729	-2.29	5.34	1.49	0.22878	Doublecortin domain (4);	0.321384	0.25130	N	0.032905	T	0.80706	0.4674	M	0.63843	1.955	0.41367	D	0.987461	P	0.43094	0.799	B	0.35859	0.212	T	0.74893	-0.3509	10	0.72032	D	0.01	-0.2019	5.8258	0.18552	0.3486:0.1304:0.521:0.0	.	52	P56715	RP1_HUMAN	S	52	ENSP00000220676:R52S	ENSP00000220676:R52S	R	+	3	2	RP1	55696235	0.786000	0.28738	0.176000	0.23000	0.583000	0.36354	0.300000	0.19156	-0.006000	0.14370	-0.142000	0.14014	AGG		0.557	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		15	65	1	0	7.93e-07	1.42e-06	15	65				
VPS13B	157680	broad.mit.edu	37	8	100831006	100831006	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:100831006G>A	ENST00000358544.2	+	47	8697	c.8586G>A	c.(8584-8586)gaG>gaA	p.E2862E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.E2837E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2862					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACATTTGGAGAAAAGGAGTC	0.373																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(8584-8586)GAG>GAA		vacuolar protein sorting 13B isoform 5							133.0	135.0	134.0					8																	100831006		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100831006G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8586G>A	8.37:g.100831006G>A						VPS13B_uc003yiw.2_Silent_p.E2837E	p.E2862E	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		47	8697	+	Breast(36;3.73e-07)		2862					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.8586G>A	CCDS6280.1																																																																																				0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		15	111	0	0	0	0	15	111				
VPS13B	157680	broad.mit.edu	37	8	100831079	100831079	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:100831079G>A	ENST00000358544.2	+	47	8770	c.8659G>A	c.(8659-8661)Gaa>Aaa	p.E2887K	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E2862K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2887					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCAAAACATAGAACCTGACCT	0.378																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(8659-8661)GAA>AAA		vacuolar protein sorting 13B isoform 5							114.0	113.0	114.0					8																	100831079		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100831079G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8659G>A	8.37:g.100831079G>A	ENSP00000351346:p.Glu2887Lys					VPS13B_uc003yiw.2_Missense_Mutation_p.E2862K	p.E2887K	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		47	8770	+	Breast(36;3.73e-07)		2887					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.8659G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162644	0.94727	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70045	-0.45;-0.45	6.02	6.02	0.97574	.	0.052835	0.64402	D	0.000001	T	0.75737	0.3890	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.75484	0.986;0.985	T	0.76206	-0.3044	10	0.62326	D	0.03	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	2862;2887	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	K	2862;2887	ENSP00000349685:E2862K;ENSP00000351346:E2887K	ENSP00000349685:E2862K	E	+	1	0	VPS13B	100900255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.593000	0.98250	2.857000	0.98124	0.650000	0.86243	GAA		0.378	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		13	67	0	0	0	0	13	67				
SLC30A8	169026	broad.mit.edu	37	8	118183329	118183329	+	Missense_Mutation	SNP	G	G	T	rs139489847		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:118183329G>T	ENST00000456015.2	+	7	886	c.886G>T	c.(886-888)Ggg>Tgg	p.G296W	SLC30A8_ENST00000519688.1_Missense_Mutation_p.G247W|SLC30A8_ENST00000427715.2_Missense_Mutation_p.G247W|SLC30A8_ENST00000521243.1_Missense_Mutation_p.G247W	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	296					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.G296R(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGCAGTCGACGGGGTGCTGTC	0.448																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|skin(2)	4						c.(886-888)GGG>TGG		solute carrier family 30 member 8							181.0	166.0	171.0					8																	118183329		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118183329G>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.886G>T	8.37:g.118183329G>T	ENSP00000415011:p.Gly296Trp					SLC30A8_uc010mcz.2_Missense_Mutation_p.G247W|SLC30A8_uc011lia.1_Missense_Mutation_p.G247W|SLC30A8_uc003yog.2_Missense_Mutation_p.G247W	p.G296W	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		7	1116	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		296			Cytoplasmic (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.886G>T	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877231	0.51801	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.07	4.17	0.49024	.	0.105222	0.64402	D	0.000005	D	0.87545	0.6204	H	0.95187	3.635	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90158	0.4226	10	0.87932	D	0	-15.9366	12.0719	0.53622	0.0901:0.0:0.9099:0.0	.	296	Q8IWU4	ZNT8_HUMAN	W	247;247;247;296	ENSP00000428545:G247W;ENSP00000407505:G247W;ENSP00000431069:G247W;ENSP00000415011:G296W	ENSP00000407505:G247W	G	+	1	0	SLC30A8	118252510	1.000000	0.71417	0.986000	0.45419	0.150000	0.21749	5.766000	0.68843	2.528000	0.85240	0.655000	0.94253	GGG		0.448	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		14	85	1	0	1.5e-05	2.61e-05	14	85				
COL14A1	7373	broad.mit.edu	37	8	121296005	121296005	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:121296005G>T	ENST00000297848.3	+	32	4225	c.3955G>T	c.(3955-3957)Gtt>Ttt	p.V1319F	COL14A1_ENST00000309791.4_Missense_Mutation_p.V1319F|COL14A1_ENST00000247781.3_Missense_Mutation_p.V1224F	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATTGGTTGGGGTTATTTTAGA	0.358																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3955-3957)GTT>TTT		collagen, type XIV, alpha 1 precursor							66.0	65.0	66.0					8																	121296005		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121296005G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3955G>T	8.37:g.121296005G>T	ENSP00000297848:p.Val1319Phe					COL14A1_uc003yoz.2_Missense_Mutation_p.V284F	p.V1319F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		32	4220	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1319			Nonhelical region (NC4).|TSP N-terminal.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3955G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509580	0.44660	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.02944	4.1;4.1;4.1	5.45	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.249082	0.40302	N	0.001128	T	0.04998	0.0134	M	0.78456	2.415	0.80722	D	1	B	0.31227	0.314	B	0.24394	0.053	T	0.13045	-1.0524	10	0.87932	D	0	.	8.5491	0.33440	0.1314:0.0:0.8686:0.0	.	1319	Q05707	COEA1_HUMAN	F	1319;1319;1224	ENSP00000311809:V1319F;ENSP00000297848:V1319F;ENSP00000247781:V1224F	ENSP00000247781:V1224F	V	+	1	0	COL14A1	121365186	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	3.247000	0.51422	1.096000	0.41439	0.462000	0.41574	GTT		0.358	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		13	52	1	0	0.00136819	0.00228473	13	52				
FAM135B	51059	broad.mit.edu	37	8	139155262	139155262	+	Silent	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:139155262G>T	ENST00000395297.1	-	16	3801	c.3631C>A	c.(3631-3633)Cga>Aga	p.R1211R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1211										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TACCTAATTCGGGATATGGAG	0.398										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(3631-3633)CGA>AGA		hypothetical protein LOC51059							110.0	106.0	107.0					8																	139155262		1888	4109	5997	SO:0001819	synonymous_variant	51059							g.chr8:139155262G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3631C>A	8.37:g.139155262G>T		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.R1112R|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.R773R|FAM135B_uc003yvb.2_3'UTR	p.R1211R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		16	3802	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1211					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.3631C>A	CCDS6375.2																																																																																				0.398	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		4	32	1	0	1.24e-05	2.16e-05	4	32				
FAM135B	51059	broad.mit.edu	37	8	139165260	139165260	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:139165260C>T	ENST00000395297.1	-	13	1628	c.1458G>A	c.(1456-1458)gtG>gtA	p.V486V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	486										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTGTGTGGCCACATTCTCAC	0.393										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(1456-1458)GTG>GTA		hypothetical protein LOC51059							131.0	124.0	126.0					8																	139165260		1931	4145	6076	SO:0001819	synonymous_variant	51059							g.chr8:139165260C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1458G>A	8.37:g.139165260C>T		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.V387V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.V48V|FAM135B_uc003yvb.2_Silent_p.V48V	p.V486V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1629	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		486					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.1458G>A	CCDS6375.2																																																																																				0.393	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		10	78	0	0	0	0	10	78				
COL22A1	169044	broad.mit.edu	37	8	139614357	139614357	+	Splice_Site	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:139614357C>A	ENST00000303045.6	-	60	4632		c.e60+1		COL22A1_ENST00000341807.4_Splice_Site|COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCCACTCACCCTTTCTCCT	0.572										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.e60+1		collagen, type XXII, alpha 1							181.0	142.0	155.0					8																	139614357		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139614357C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4185+1G>T	8.37:g.139614357C>A		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Splice_Site_p.R675_splice	p.R1395_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		60	4632	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)							B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	37	c.4185_splice	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713691	0.68730	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0348	0.92972	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL22A1	139683539	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	6.349000	0.73013	2.802000	0.96397	0.563000	0.77884	.		0.572	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Intron	20	61	1	0	5.35e-07	9.63e-07	20	61				
TSNARE1	203062	broad.mit.edu	37	8	143425409	143425409	+	Silent	SNP	G	G	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:143425409G>T	ENST00000307180.3	-	4	780	c.663C>A	c.(661-663)ctC>ctA	p.L221L	TSNARE1_ENST00000520166.1_Silent_p.L221L|TSNARE1_ENST00000524325.1_Silent_p.L221L|TSNARE1_ENST00000519651.1_Intron	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	221					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCACGGGCGTGAGAGCCAGGG	0.706																																						uc003ywk.2		NA																	0					0						c.(661-663)CTC>CTA		t-SNARE domain containing 1							18.0	21.0	20.0					8																	143425409		2174	4262	6436	SO:0001819	synonymous_variant	203062				vesicle-mediated transport	integral to membrane		g.chr8:143425409G>T			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.663C>A	8.37:g.143425409G>T						TSNARE1_uc011lju.1_Silent_p.L221L|TSNARE1_uc003ywj.2_Silent_p.L221L|TSNARE1_uc003ywl.3_Intron	p.L221L	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			4	781	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		221					B7ZLB0|Q14D03	Silent	SNP	ENST00000307180.3	37	c.663C>A	CCDS6384.1																																																																																				0.706	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		10	41	1	0	1.34e-11	2.59e-11	10	41				
JRK	8629	broad.mit.edu	37	8	143747266	143747266	+	RNA	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:143747266G>C	ENST00000507178.2	-	0	544							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				cgccttgttggagtccgagct	0.652																																						uc003ywo.2		NA																	0					0						c.(211-213)TCC>TGC		jerky isoform b							32.0	40.0	38.0					8																	143747266		2123	4230	6353			8629							g.chr8:143747266G>C	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143747266G>C						JRK_uc003ywp.2_Missense_Mutation_p.S71C|JRK_uc010mew.1_Missense_Mutation_p.S71C	p.S71C	NM_001077527	NP_001070995					2	726	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)						O75565	Missense_Mutation	SNP	ENST00000507178.2	37	c.212C>G																																																																																					0.652	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		4	19	0	0	0	0	4	19				
TSTA3	7264	broad.mit.edu	37	8	144696589	144696589	+	Missense_Mutation	SNP	C	C	T	rs375507364		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr8:144696589C>T	ENST00000425753.2	-	6	602	c.499G>A	c.(499-501)Gct>Act	p.A167T	TSTA3_ENST00000529064.1_Missense_Mutation_p.A167T	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	167					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGATGACAGCGGTGAAGGTG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		14642	0.0		0.0	False		,,,				2504	0.001					uc003yza.2		NA																	0				pancreas(1)	1						c.(499-501)GCT>ACT		tissue specific transplantation antigen P35B	NADH(DB00157)	C	THR/ALA	0,4404		0,0,2202	134.0	122.0	126.0		499	4.0	0.1	8		126	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSTA3	NM_003313.3	58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	167/322	144696589	1,13003	2202	4300	6502	SO:0001583	missense	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144696589C>T	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.499G>A	8.37:g.144696589C>T	ENSP00000398803:p.Ala167Thr					TSTA3_uc003yzb.2_Missense_Mutation_p.A167T	p.A167T	NM_003313	NP_003304	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		6	535	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		167					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	ENST00000425753.2	37	c.499G>A	CCDS6408.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843100	0.51057	0.0	1.16E-4	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	4.85	3.96	0.45880	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.102646	0.64402	D	0.000003	D	0.91171	0.7219	M	0.64630	1.985	0.54753	D	0.999986	B	0.19445	0.036	B	0.18871	0.023	D	0.88326	0.2965	10	0.87932	D	0	-11.3048	11.3748	0.49722	0.327:0.673:0.0:0.0	.	167	Q13630	FCL_HUMAN	T	167	ENSP00000435386:A167T;ENSP00000398803:A167T;ENSP00000431587:A167T;ENSP00000437012:A167T	ENSP00000398803:A167T	A	-	1	0	TSTA3	144767732	0.990000	0.36364	0.137000	0.22149	0.984000	0.73092	2.251000	0.43187	1.008000	0.39264	0.591000	0.81541	GCT		0.662	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		4	38	0	0	0	0	4	38				
MPDZ	8777	broad.mit.edu	37	9	13168483	13168483	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:13168483C>A	ENST00000319217.7	-	22	3383	c.3136G>T	c.(3136-3138)Ggc>Tgc	p.G1046C	MPDZ_ENST00000541718.1_Missense_Mutation_p.G1046C|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1046C|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1046C|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1046C|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1046C|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1046C	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1046	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GCAATCCGGCCATCTCGACTA	0.453																																						uc010mia.1		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(3136-3138)GGC>TGC		multiple PDZ domain protein							209.0	202.0	204.0					9																	13168483		1970	4155	6125	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13168483C>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3136G>T	9.37:g.13168483C>A	ENSP00000320006:p.Gly1046Cys					MPDZ_uc003zkz.3_5'UTR|MPDZ_uc010mhy.2_Missense_Mutation_p.G1046C|MPDZ_uc010mhz.2_Missense_Mutation_p.G1046C|MPDZ_uc011lmn.1_Missense_Mutation_p.G1046C|MPDZ_uc003zlb.3_Missense_Mutation_p.G1046C	p.G1046C	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	21	3193	-			1046			PDZ 6.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.3136G>T		.	.	.	.	.	.	.	.	.	.	C	26.3	4.720858	0.89205	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.12	5.12	0.69794	.	0.000000	0.41001	D	0.000973	D	0.84804	0.5553	H	0.96916	3.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90092	0.4178	10	0.87932	D	0	.	18.9337	0.92577	0.0:1.0:0.0:0.0	.	1046;1046;1046	B7ZMI4;O75970-3;O75970-2	.;.;.	C	1046;1046;1046;52;1046;1046;1046;996;1046	ENSP00000320006:G1046C;ENSP00000439807:G1046C;ENSP00000370410:G1046C;ENSP00000444230:G52C;ENSP00000444151:G1046C;ENSP00000415208:G1046C;ENSP00000370403:G1046C;ENSP00000446358:G1046C	ENSP00000320006:G1046C	G	-	1	0	MPDZ	13158483	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.414000	0.80117	2.540000	0.85666	0.655000	0.94253	GGC		0.453	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		113	129	1	0	1.22e-62	2.5e-62	113	129				
LINGO2	158038	broad.mit.edu	37	9	27950478	27950478	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:27950478G>A	ENST00000379992.2	-	6	641	c.192C>T	c.(190-192)ctC>ctT	p.L64L	LINGO2_ENST00000308675.3_Silent_p.L64L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	64						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGTTTTTACTGAGGTCCAAGA	0.458																																						uc003zqu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(190-192)CTC>CTT		leucine rich repeat and Ig domain containing 2							193.0	198.0	196.0					9																	27950478		2203	4300	6503	SO:0001819	synonymous_variant	158038					integral to membrane		g.chr9:27950478G>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.192C>T	9.37:g.27950478G>A						LINGO2_uc010mjf.1_Silent_p.L64L|LINGO2_uc003zqv.1_Silent_p.L64L	p.L64L	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	386	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	64			LRR 1.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	c.192C>T	CCDS6524.1																																																																																				0.458	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		72	94	0	0	0	0	72	94				
TAF1L	138474	broad.mit.edu	37	9	32631662	32631662	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:32631662C>T	ENST00000242310.4	-	1	4005	c.3916G>A	c.(3916-3918)Gtg>Atg	p.V1306M	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1306					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAAGGTGGCACATTTGTTTGA	0.428																																						uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(3916-3918)GTG>ATG		TBP-associated factor RNA polymerase 1-like							188.0	187.0	187.0					9																	32631662		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631662C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3916G>A	9.37:g.32631662C>T	ENSP00000418379:p.Val1306Met					uc003zrh.1_5'Flank	p.V1306M	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4006	-			1306					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3916G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651290	0.47362	.	.	ENSG00000122728	ENST00000242310	T	0.46819	0.86	1.56	1.56	0.23342	.	0.046581	0.85682	D	0.000000	T	0.27832	0.0685	N	0.08118	0	0.22656	N	0.998888	B	0.23591	0.088	B	0.32022	0.139	T	0.30238	-0.9985	10	0.62326	D	0.03	.	8.618	0.33845	0.0:1.0:0.0:0.0	.	1306	Q8IZX4	TAF1L_HUMAN	M	1306	ENSP00000418379:V1306M	ENSP00000418379:V1306M	V	-	1	0	TAF1L	32621662	1.000000	0.71417	0.920000	0.36463	0.726000	0.41606	5.098000	0.64548	0.507000	0.28148	0.195000	0.17529	GTG		0.428	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			91	134	0	0	0	0	91	134				
TAF1L	138474	broad.mit.edu	37	9	32633519	32633519	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:32633519G>A	ENST00000242310.4	-	1	2148	c.2059C>T	c.(2059-2061)Cct>Tct	p.P687S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	687					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGATCCTGAGGTGTGCGCATA	0.433																																						uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2059-2061)CCT>TCT		TBP-associated factor RNA polymerase 1-like							181.0	165.0	171.0					9																	32633519		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633519G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2059C>T	9.37:g.32633519G>A	ENSP00000418379:p.Pro687Ser					uc003zrh.1_RNA	p.P687S	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2149	-			687					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2059C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389641	0.42410	.	.	ENSG00000122728	ENST00000242310	T	0.12569	2.67	0.633	-0.524	0.11920	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.164918	0.56097	N	0.000036	T	0.08582	0.0213	L	0.35249	1.045	0.40116	D	0.976542	B	0.15719	0.014	B	0.21546	0.035	T	0.17289	-1.0374	10	0.51188	T	0.08	.	3.9112	0.09204	0.5681:0.0:0.4319:0.0	.	687	Q8IZX4	TAF1L_HUMAN	S	687	ENSP00000418379:P687S	ENSP00000418379:P687S	P	-	1	0	TAF1L	32623519	0.927000	0.31430	0.996000	0.52242	0.900000	0.52787	1.169000	0.31871	-0.222000	0.09958	0.195000	0.17529	CCT		0.433	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			6	117	0	0	0	0	6	117				
FAM214B	80256	broad.mit.edu	37	9	35107755	35107755	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:35107755C>T	ENST00000378561.1	-	2	3572	c.517G>A	c.(517-519)Gag>Aag	p.E173K	FAM214B_ENST00000605244.1_Missense_Mutation_p.E173K|FAM214B_ENST00000322813.5_Missense_Mutation_p.E173K|FAM214B_ENST00000488109.2_Missense_Mutation_p.E173K|FAM214B_ENST00000378554.2_Missense_Mutation_p.E173K|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000378557.1_Missense_Mutation_p.E173K|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000603301.1_Missense_Mutation_p.E173K			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	173						nucleus (GO:0005634)											CCTGGGGACTCCCCCAGGGAC	0.632																																						uc003zwl.2		NA																	0				ovary(2)	2						c.(517-519)GAG>AAG		hypothetical protein LOC80256							34.0	42.0	40.0					9																	35107755		2193	4296	6489	SO:0001583	missense	80256					nucleus		g.chr9:35107755C>T	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.517G>A	9.37:g.35107755C>T	ENSP00000367823:p.Glu173Lys					KIAA1539_uc003zwm.2_Missense_Mutation_p.E173K|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Missense_Mutation_p.E173K|KIAA1539_uc003zwp.1_Missense_Mutation_p.E173K|KIAA1539_uc010mkk.1_Intron	p.E173K	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		3	842	-	all_epithelial(49;0.217)		173					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	c.517G>A	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195400	0.38806	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.87	2.96	0.34315	.	0.412335	0.24393	N	0.038909	T	0.39937	0.1097	L	0.53249	1.67	0.24301	N	0.995121	B	0.12630	0.006	B	0.14023	0.01	T	0.25398	-1.0133	8	.	.	.	-19.0493	9.9352	0.41548	0.2488:0.5092:0.242:0.0	.	173	Q7L5A3	K1539_HUMAN	K	173	.	.	E	-	1	0	KIAA1539	35097755	0.003000	0.15002	0.997000	0.53966	0.978000	0.69477	1.024000	0.30077	0.612000	0.30071	0.555000	0.69702	GAG		0.632	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		15	109	0	0	0	0	15	109				
SIT1	27240	broad.mit.edu	37	9	35650548	35650548	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:35650548A>T	ENST00000259608.3	-	2	273	c.187T>A	c.(187-189)Ttg>Atg	p.L63M	SIT1_ENST00000474403.1_Intron	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	63					immune system process (GO:0002376)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	kinase binding (GO:0019900)|SH2 domain binding (GO:0042169)			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACTGGGACAAGTGTGCAGCC	0.597																																						uc003zxe.1		NA																	0					0						c.(187-189)TTG>ATG		SHP2-interacting transmembrane adaptor protein							68.0	76.0	73.0					9																	35650548		2203	4300	6503	SO:0001583	missense	27240				regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding	g.chr9:35650548A>T		CCDS6582.1	9p13-p12	2008-02-05	2005-04-26		ENSG00000137078	ENSG00000137078			17710	protein-coding gene	gene with protein product	"""SHP2 interacting transmembrane adaptor"""	604964	"""suppression inducing transmembrane adaptor 1"""			11491537, 10209036	Standard	NM_014450		Approved	SIT	uc003zxe.1	Q9Y3P8	OTTHUMG00000019867	ENST00000259608.3:c.187T>A	9.37:g.35650548A>T	ENSP00000259608:p.Leu63Met					SIT1_uc003zxf.1_Intron	p.L63M	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	284	-			63			Cytoplasmic (Potential).		B2RBP9	Missense_Mutation	SNP	ENST00000259608.3	37	c.187T>A	CCDS6582.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.013410	0.54468	.	.	ENSG00000137078	ENST00000259608	T	0.60299	0.2	4.88	2.47	0.30058	.	0.000000	0.36002	N	0.002852	T	0.60130	0.2245	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.76071	0.987	T	0.47381	-0.9122	10	0.87932	D	0	-9.0463	6.2463	0.20820	0.7645:0.0:0.2355:0.0	.	63	Q9Y3P8	SIT1_HUMAN	M	63	ENSP00000259608:L63M	ENSP00000259608:L63M	L	-	1	2	SIT1	35640548	0.960000	0.32886	0.725000	0.30721	0.771000	0.43674	0.751000	0.26348	0.810000	0.34279	0.482000	0.46254	TTG		0.597	SIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052322.1	NM_014450		58	69	0	0	0	0	58	69				
PGM5	5239	broad.mit.edu	37	9	71002492	71002492	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:71002492G>C	ENST00000396396.1	+	4	914	c.685G>C	c.(685-687)Gca>Cca	p.A229P	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.A229P	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	229					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TCGCATTGACGCAATGCACGG	0.468																																						uc004agr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(685-687)GCA>CCA		phosphoglucomutase 5							101.0	86.0	91.0					9																	71002492		2203	4299	6502	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71002492G>C	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.685G>C	9.37:g.71002492G>C	ENSP00000379678:p.Ala229Pro						p.A229P	NM_021965	NP_068800	Q15124	PGM5_HUMAN			4	914	+			229					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.685G>C	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	16.76	3.213438	0.58452	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.62498	0.02;0.02;0.02	5.03	5.03	0.67393	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.000000	0.85682	U	0.000000	T	0.67924	0.2945	M	0.72576	2.205	0.80722	D	1	P	0.37176	0.586	B	0.41988	0.372	T	0.73421	-0.3988	10	0.87932	D	0	.	17.186	0.86867	0.0:0.0:1.0:0.0	.	229	Q15124	PGM5_HUMAN	P	229;229;180;146	ENSP00000379678:A229P;ENSP00000379674:A229P;ENSP00000394864:A146P	ENSP00000366531:A180P	A	+	1	0	PGM5	70192312	1.000000	0.71417	0.931000	0.37212	0.481000	0.33189	9.550000	0.98110	2.330000	0.79161	0.466000	0.42574	GCA		0.468	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		7	55	0	0	0	0	7	55				
C9orf135	138255	broad.mit.edu	37	9	72435949	72435949	+	Splice_Site	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:72435949T>A	ENST00000377197.3	+	1	239		c.e1+2		C9orf135_ENST00000466872.2_Splice_Site|C9orf135_ENST00000527647.1_Splice_Site|C9orf135-AS1_ENST00000439418.1_lincRNA	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135							integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GTATTCCTGGTGAGCGAAGTC	0.587																																						uc004ahl.2		NA																	0				ovary(1)	1						c.e1+2		hypothetical protein LOC138255							39.0	38.0	38.0					9																	72435949		2203	4300	6503	SO:0001630	splice_region_variant	138255					integral to membrane		g.chr9:72435949T>A		CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.152+2T>A	9.37:g.72435949T>A						C9orf135_uc011lrw.1_Splice_Site|C9orf135_uc010moq.2_Splice_Site|C9orf135_uc011lrx.1_Splice_Site|C9orf135_uc010mop.2_Splice_Site_p.W51_splice|uc004ahk.2_5'Flank	p.W51_splice	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN			1	217	+								A7E2U4|B2RN61	Splice_Site	SNP	ENST00000377197.3	37	c.152_splice	CCDS35041.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.549220	0.45383	.	.	ENSG00000204711	ENST00000377197;ENST00000527647;ENST00000480564	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6822	0.45821	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C9orf135	71625769	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	3.677000	0.54619	2.015000	0.59207	0.533000	0.62120	.		0.587	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940	Intron	10	39	0	0	0	0	10	39				
TRPM3	80036	broad.mit.edu	37	9	73167807	73167807	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:73167807C>T	ENST00000377111.2	-	23	3734	c.3491G>A	c.(3490-3492)cGa>cAa	p.R1164Q	TRPM3_ENST00000396280.5_Missense_Mutation_p.R1013Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1026Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1023Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1026Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1023Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1191Q|TRPM3_ENST00000377110.3_Missense_Mutation_p.R1164Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1036Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1168Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1023Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1036Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1189					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTTCCTCCATCGGCAGCACAG	0.527																																						uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(3490-3492)CGA>CAA		transient receptor potential cation channel,							207.0	197.0	201.0					9																	73167807		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73167807C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3491G>A	9.37:g.73167807C>T	ENSP00000366315:p.Arg1164Gln					TRPM3_uc004ahu.2_Missense_Mutation_p.R1006Q|TRPM3_uc004ahv.2_Missense_Mutation_p.R966Q|TRPM3_uc004ahw.2_Missense_Mutation_p.R1036Q|TRPM3_uc004ahx.2_Missense_Mutation_p.R1023Q|TRPM3_uc004ahy.2_Missense_Mutation_p.R1026Q|TRPM3_uc004ahz.2_Missense_Mutation_p.R1013Q|TRPM3_uc004aia.2_Missense_Mutation_p.R1011Q|TRPM3_uc004aib.2_Missense_Mutation_p.R1001Q|TRPM3_uc004aic.2_Missense_Mutation_p.R1164Q	p.R1164Q	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			23	3735	-			1189			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3491G>A		.	.	.	.	.	.	.	.	.	.	C	24.8	4.566572	0.86439	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.59224	0.28;0.4;0.35;0.35;0.32;0.4;0.32;0.37;0.35;0.35;0.39	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.75451	0.3851	M	0.68728	2.09	0.51482	D	0.99992	D;B;D;D;D;D;D;D	0.89917	0.999;0.123;0.998;0.976;0.997;1.0;0.998;0.968	D;B;D;P;P;D;D;B	0.69479	0.964;0.024;0.927;0.457;0.865;0.953;0.951;0.207	T	0.75218	-0.3395	10	0.56958	D	0.05	-10.043	20.063	0.97692	0.0:1.0:0.0:0.0	.	1164;1164;1154;1168;1026;1023;1136;1023	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	Q	1164;1164;1036;1026;1023;1168;1023;1023;1036;1026;1191	ENSP00000366315:R1164Q;ENSP00000366314:R1164Q;ENSP00000366310:R1036Q;ENSP00000354066:R1026Q;ENSP00000366309:R1023Q;ENSP00000350140:R1168Q;ENSP00000386127:R1023Q;ENSP00000379581:R1023Q;ENSP00000379587:R1036Q;ENSP00000350791:R1026Q;ENSP00000389542:R1191Q	ENSP00000350140:R1168Q	R	-	2	0	TRPM3	72357627	1.000000	0.71417	0.989000	0.46669	0.851000	0.48451	7.487000	0.81328	2.741000	0.93983	0.650000	0.86243	CGA		0.527	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		24	222	0	0	0	0	24	222				
PRUNE2	158471	broad.mit.edu	37	9	79320154	79320154	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:79320154C>A	ENST00000376718.3	-	8	7159	c.7036G>T	c.(7036-7038)Gaa>Taa	p.E2346*	PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.E1987*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2346					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACGAGGCTTCAGATGAGCAG	0.473																																						uc010mpk.2		NA																	0					0						c.(7036-7038)GAA>TAA		prune homolog 2							152.0	145.0	148.0					9																	79320154		1568	3582	5150	SO:0001587	stop_gained	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320154C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7036G>T	9.37:g.79320154C>A	ENSP00000365908:p.Glu2346*					PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	p.E2346*	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	7160	-			2346					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	ENST00000376718.3	37	c.7036G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.352365|10.352365	0.99389|0.99389	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	.|.	.|.	.|.	5.79|5.79	4.88|4.88	0.63580|0.63580	.|.	0.222633|.	0.32055|.	N|.	0.006644|.	.|.	.|.	.|.	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.72032|.	D|.	0.01|.	-22.1642|-22.1642	10.7866|10.7866	0.46409|0.46409	0.0:0.8547:0.0:0.1453|0.0:0.8547:0.0:0.1453	.|.	.|.	.|.	.|.	X|L	2346;1987;2345|1667	.|.	ENSP00000365908:E2346X|.	E|X	-|-	1|2	0|2	PRUNE2|PRUNE2	78509974|78509974	0.494000|0.494000	0.26043|0.26043	0.982000|0.982000	0.44146|0.44146	0.529000|0.529000	0.34654|0.34654	0.757000|0.757000	0.26433|0.26433	2.727000|2.727000	0.93392|0.93392	0.655000|0.655000	0.94253|0.94253	GAA|TGA		0.473	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		32	133	1	0	9.65e-13	1.9e-12	32	133				
FRRS1L	23732	broad.mit.edu	37	9	111903626	111903626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:111903626G>A	ENST00000561981.2	-	4	858	c.859C>T	c.(859-861)Cag>Tag	p.Q287*		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	287						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)											AGCTTACCCTGAATGGCTGGA	0.433																																						uc004bdw.1		NA																	0					0						c.(859-861)CAG>TAG		hypothetical protein LOC23732							116.0	105.0	109.0					9																	111903626		2203	4300	6503	SO:0001587	stop_gained	23732					integral to membrane		g.chr9:111903626G>A	AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"""chromosome 9 open reading frame 4"""	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.859C>T	9.37:g.111903626G>A	ENSP00000477141:p.Gln287*						p.Q287*	NM_014334	NP_055149	Q9P0K9	CI004_HUMAN			4	859	-			287					Q5T4G4	Nonsense_Mutation	SNP	ENST00000561981.2	37	c.859C>T	CCDS35098.1	.	.	.	.	.	.	.	.	.	.	G	34	5.317076	0.95682	.	.	ENSG00000136805	ENST00000374581	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	19.6332	0.95719	0.0:0.0:1.0:0.0	.	.	.	.	X	287	.	ENSP00000363709:Q287X	Q	-	1	0	C9orf4	110943447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.642000	0.89623	0.650000	0.86243	CAG		0.433	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334		5	34	0	0	0	0	5	34				
UGCG	7357	broad.mit.edu	37	9	114676936	114676936	+	Silent	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:114676936C>T	ENST00000374279.3	+	2	600	c.150C>T	c.(148-150)ctC>ctT	p.L50L	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	50					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	ATAGCAAGCTCCCAGGTGTCT	0.368																																						uc004bft.2		NA																	0				ovary(1)	1						c.(148-150)CTC>CTT		ceramide glucosyltransferase	Miglustat(DB00419)						101.0	104.0	103.0					9																	114676936		2203	4300	6503	SO:0001819	synonymous_variant	7357				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	g.chr9:114676936C>T	D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.150C>T	9.37:g.114676936C>T							p.L50L	NM_003358	NP_003349	Q16739	CEGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.0433)	2	440	+			50			Cytoplasmic (Potential).		Q5T258	Silent	SNP	ENST00000374279.3	37	c.150C>T	CCDS6782.1																																																																																				0.368	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358		13	52	0	0	0	0	13	52				
ALAD	210	broad.mit.edu	37	9	116155760	116155760	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:116155760T>C	ENST00000409155.3	-	2	276	c.80A>G	c.(79-81)aAt>aGt	p.N27S	ALAD_ENST00000277315.5_Missense_Mutation_p.N27S|ALAD_ENST00000482001.1_5'Flank	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	27					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GTTGGAGGCATTGAGGGTGGT	0.617																																						uc011lxf.1		NA																	0					0						c.(79-81)AAT>AGT		delta-aminolevulinic acid dehydratase	Aminolevulinic acid(DB00855)						166.0	125.0	139.0					9																	116155760		2203	4300	6503	SO:0001583	missense	210				heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding	g.chr9:116155760T>C	M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"""porphobilinogen synthase"""	125270	"""aminolevulinate, delta-, dehydratase"""			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.80A>G	9.37:g.116155760T>C	ENSP00000386284:p.Asn27Ser					ALAD_uc011lxe.1_Missense_Mutation_p.N27S|ALAD_uc004bhl.3_Missense_Mutation_p.M1V	p.N27S	NM_000031	NP_000022	P13716	HEM2_HUMAN			2	282	-			27					A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	ENST00000409155.3	37	c.80A>G	CCDS6794.2	.	.	.	.	.	.	.	.	.	.	T	10.29	1.310263	0.23821	.	.	ENSG00000148218	ENST00000409155;ENST00000277315;ENST00000448137;ENST00000452726	D;D;D;D	0.86230	-2.06;-2.06;-2.06;-2.09	5.71	-0.716	0.11212	Aldolase-type TIM barrel (1);	.	.	.	.	T	0.61311	0.2337	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.53669	-0.8406	9	0.06099	T	0.92	1.1102	9.2234	0.37390	0.0:0.2354:0.0:0.7646	.	27;27	P13716;B7Z3I9	HEM2_HUMAN;.	S	27;27;36;36	ENSP00000386284:N27S;ENSP00000277315:N27S;ENSP00000392748:N36S;ENSP00000415737:N36S	ENSP00000277315:N27S	N	-	2	0	ALAD	115195581	0.438000	0.25602	0.481000	0.27354	0.963000	0.63663	0.628000	0.24522	-0.012000	0.14223	0.533000	0.62120	AAT		0.617	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945		11	39	0	0	0	0	11	39				
DENND1A	57706	broad.mit.edu	37	9	126429310	126429310	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:126429310C>G	ENST00000373624.2	-	8	703	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	DENND1A_ENST00000394219.3_Missense_Mutation_p.E136Q|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Missense_Mutation_p.E138Q|DENND1A_ENST00000373620.3_Missense_Mutation_p.E168Q|DENND1A_ENST00000373618.1_Missense_Mutation_p.E136Q	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	168	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CTTACATTCTCAGGTATGCTG	0.299																																						uc004bnz.1		NA																	0				ovary(2)	2						c.(502-504)GAG>CAG		DENN/MADD domain containing 1A isoform 1							58.0	60.0	59.0					9																	126429310		2203	4299	6502	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126429310C>G	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.502G>C	9.37:g.126429310C>G	ENSP00000362727:p.Glu168Gln					DENND1A_uc004bny.1_5'UTR|DENND1A_uc011lzm.1_Missense_Mutation_p.E136Q|DENND1A_uc004boa.1_Missense_Mutation_p.E168Q|DENND1A_uc004bob.1_Missense_Mutation_p.E138Q|DENND1A_uc004boc.2_Missense_Mutation_p.E136Q	p.E168Q	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			8	735	-			168			DENN.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.502G>C	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017817	0.54576	.	.	ENSG00000119522	ENST00000373624;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69	5.45	5.45	0.79879	DENN (3);	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	M	0.89601	3.045	0.53688	D	0.999977	B;D;D;D;B	0.59357	0.256;0.979;0.979;0.985;0.301	B;P;P;P;B	0.60012	0.091;0.802;0.729;0.867;0.209	T	0.48647	-0.9017	10	0.56958	D	0.05	-19.6894	16.0153	0.80434	0.0:1.0:0.0:0.0	.	136;136;138;168;168	Q8TEH3-6;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3	.;.;.;.;DEN1A_HUMAN	Q	168;136;168;138;136	ENSP00000362727:E168Q;ENSP00000377766:E136Q;ENSP00000362722:E168Q;ENSP00000377763:E138Q;ENSP00000362720:E136Q	ENSP00000362720:E136Q	E	-	1	0	DENND1A	125469131	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.903000	0.69877	2.563000	0.86464	0.650000	0.86243	GAG		0.299	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		5	31	0	0	0	0	5	31				
SH2D3C	10044	broad.mit.edu	37	9	130511596	130511596	+	Missense_Mutation	SNP	C	C	A	rs199532954		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:130511596C>A	ENST00000314830.8	-	5	1146	c.1033G>T	c.(1033-1035)Gtc>Ttc	p.V345F	SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000420366.1_Missense_Mutation_p.V187F|SH2D3C_ENST00000373277.4_Missense_Mutation_p.V188F|SH2D3C_ENST00000373276.3_Missense_Mutation_p.V277F|SH2D3C_ENST00000373274.3_Missense_Mutation_p.V185F|SH2D3C_ENST00000471939.1_Intron	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	345					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGGGGCTGACGGGGCTAGCA	0.657																																						uc004bsc.2		NA																	0				ovary(1)	1						c.(1033-1035)GTC>TTC		SH2 domain containing 3C isoform a							53.0	50.0	51.0					9																	130511596		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130511596C>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1033G>T	9.37:g.130511596C>A	ENSP00000317817:p.Val345Phe					SH2D3C_uc010mxo.2_Missense_Mutation_p.V185F|SH2D3C_uc004bry.2_Missense_Mutation_p.V187F|SH2D3C_uc004brz.3_5'UTR|SH2D3C_uc011mak.1_5'UTR|SH2D3C_uc004bsa.2_Missense_Mutation_p.V188F|SH2D3C_uc004bsb.2_Missense_Mutation_p.V277F	p.V345F	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			5	1175	-			345					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1033G>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	4.619	0.115131	0.08831	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000314830;ENST00000414380	T;T;T;T;T;T	0.36699	2.71;2.72;2.46;2.71;2.71;1.24	5.37	5.37	0.77165	.	0.335843	0.36167	N	0.002746	T	0.20901	0.0503	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.21753	0.022;0.03;0.06;0.007;0.037	B;B;B;B;B	0.28011	0.024;0.051;0.03;0.025;0.085	T	0.09862	-1.0655	10	0.11485	T	0.65	-15.8847	14.8215	0.70077	0.0:0.8453:0.1547:0.0	.	185;345;277;188;187	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	F	188;187;277;185;345;162	ENSP00000362374:V188F;ENSP00000388536:V187F;ENSP00000362373:V277F;ENSP00000362371:V185F;ENSP00000317817:V345F;ENSP00000413760:V162F	ENSP00000317817:V345F	V	-	1	0	SH2D3C	129551417	0.971000	0.33674	0.972000	0.41901	0.071000	0.16799	2.212000	0.42835	2.686000	0.91538	0.561000	0.74099	GTC		0.657	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		12	51	1	0	0.000978159	0.00164478	12	51				
AIF1L	83543	broad.mit.edu	37	9	133993218	133993218	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:133993218C>G	ENST00000247291.3	+	5	366	c.278C>G	c.(277-279)tCa>tGa	p.S93*	AIF1L_ENST00000372300.1_Nonsense_Mutation_p.S93*|AIF1L_ENST00000372302.1_Nonsense_Mutation_p.S85*|AIF1L_ENST00000372298.1_Nonsense_Mutation_p.S93*|AIF1L_ENST00000372301.2_Nonsense_Mutation_p.S37*|AIF1L_ENST00000372312.3_Nonsense_Mutation_p.S98*|AIF1L_ENST00000372297.2_Nonsense_Mutation_p.S37*|AIF1L_ENST00000372309.3_Nonsense_Mutation_p.S119*	NM_031426.3	NP_113614.1	Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like	93	EF-hand 2; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.					actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			lung(2)	2						AAGATGATCTCAGAGGTGACA	0.507																																					Esophageal Squamous(95;611 1423 5044 34794 42333)	uc004cab.1		NA																	0					0						c.(277-279)TCA>TGA		ionized calcium binding adapter molecule 2							137.0	129.0	132.0					9																	133993218		2203	4300	6503	SO:0001587	stop_gained	83543					actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding	g.chr9:133993218C>G	AL136566	CCDS6939.1, CCDS55348.1, CCDS55349.1	9q34.13-q34.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000126878	ENSG00000126878		"""EF-hand domain containing"""	28904	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 58"""	C9orf58		11230166	Standard	NM_001185095		Approved	IBA2, FLJ12783	uc004cad.2	Q9BQI0	OTTHUMG00000020817	ENST00000247291.3:c.278C>G	9.37:g.133993218C>G	ENSP00000247291:p.Ser93*					AIF1L_uc004cad.1_Nonsense_Mutation_p.S119*|AIF1L_uc004cae.1_Nonsense_Mutation_p.S93*|AIF1L_uc004cac.1_RNA|AIF1L_uc011mce.1_Nonsense_Mutation_p.S98*	p.S93*	NM_031426	NP_113614	Q9BQI0	AIF1L_HUMAN			5	383	+			93			EF-hand 2; degenerate.		B2RBC4|Q6ZR40|Q8NAX7|Q8WU47|Q9H9G0	Nonsense_Mutation	SNP	ENST00000247291.3	37	c.278C>G	CCDS6939.1	.	.	.	.	.	.	.	.	.	.	C	37	6.058926	0.97246	.	.	ENSG00000126878	ENST00000372309;ENST00000247291;ENST00000372302;ENST00000372300;ENST00000372298;ENST00000372297;ENST00000372312;ENST00000372301	.	.	.	5.74	5.74	0.90152	.	0.286387	0.33959	N	0.004382	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-0.9654	13.8331	0.63393	0.1527:0.8473:0.0:0.0	.	.	.	.	X	119;93;85;93;93;37;98;37	.	ENSP00000247291:S93X	S	+	2	0	AIF1L	132983039	1.000000	0.71417	0.970000	0.41538	0.970000	0.65996	4.663000	0.61532	2.715000	0.92844	0.655000	0.94253	TCA		0.507	AIF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054703.2	NM_031426		8	69	0	0	0	0	8	69				
PRRC2B	84726	broad.mit.edu	37	9	134308156	134308156	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:134308156A>T	ENST00000357304.4	+	2	323	c.268A>T	c.(268-270)Aag>Tag	p.K90*	PRRC2B_ENST00000458550.1_Nonsense_Mutation_p.K90*|PRRC2B_ENST00000405995.1_Nonsense_Mutation_p.K90*	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	90							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ATGGGCAAACAAGCAGGATCA	0.577																																						uc004can.3		NA																	0					0						c.(268-270)AAG>TAG		HLA-B associated transcript 2-like							104.0	116.0	112.0					9																	134308156		2111	4229	6340	SO:0001587	stop_gained	84726						protein binding	g.chr9:134308156A>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.268A>T	9.37:g.134308156A>T	ENSP00000349856:p.Lys90*					BAT2L1_uc004cam.1_Nonsense_Mutation_p.K90*	p.K90*	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			2	323	+			90					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Nonsense_Mutation	SNP	ENST00000357304.4	37	c.268A>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	A	37	6.566950	0.97671	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	.	.	.	5.85	5.85	0.93711	.	0.000000	0.43579	U	0.000551	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4083	15.4063	0.74881	1.0:0.0:0.0:0.0	.	.	.	.	X	90	.	ENSP00000349856:K90X	K	+	1	0	PRRC2B	133297977	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.887000	0.92456	2.233000	0.73108	0.533000	0.62120	AAG		0.577	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	50	0	0	0	0	7	50				
COL5A1	1289	broad.mit.edu	37	9	137716625	137716625	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:137716625A>T	ENST00000371817.3	+	62	5292	c.4878A>T	c.(4876-4878)aaA>aaT	p.K1626N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1626	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCAGATGAAACGGCCCCTGG	0.632																																						uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(4876-4878)AAA>AAT		alpha 1 type V collagen preproprotein							64.0	57.0	60.0					9																	137716625		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137716625A>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4878A>T	9.37:g.137716625A>T	ENSP00000360882:p.Lys1626Asn					uc004cff.2_Intron	p.K1626N	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	62	5260	+		Myeloproliferative disorder(178;0.0341)	1626			Fibrillar collagen NC1.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.4878A>T	CCDS6982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.52|15.52	2.858317|2.858317	0.51376|0.51376	.|.	.|.	ENSG00000130635|ENSG00000130635	ENST00000371817;ENST00000355306|ENST00000371820	T|.	0.75154|.	-0.91|.	4.16|4.16	2.28|2.28	0.28536|0.28536	Fibrillar collagen, C-terminal (3);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.76955|0.76955	0.4060|0.4060	M|M	0.91920|0.91920	3.255|3.255	0.44012|0.44012	D|D	0.996726|0.996726	D|.	0.63046|.	0.992|.	D|.	0.63283|.	0.913|.	T|T	0.75007|0.75007	-0.3469|-0.3469	10|5	0.72032|.	D|.	0.01|.	.|.	7.8142|7.8142	0.29249|0.29249	0.4249:0.0:0.5751:0.0|0.4249:0.0:0.5751:0.0	.|.	1626|.	P20908|.	CO5A1_HUMAN|.	N|S	1626;163|46	ENSP00000360882:K1626N|.	ENSP00000347458:K163N|.	K|T	+|+	3|1	2|0	COL5A1|COL5A1	136856446|136856446	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.987000|0.987000	0.75469|0.75469	1.230000|1.230000	0.32612|0.32612	0.053000|0.053000	0.16036|0.16036	-0.247000|-0.247000	0.11927|0.11927	AAA|ACG		0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		10	31	0	0	0	0	10	31				
ABCA2	20	broad.mit.edu	37	9	139913671	139913671	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:139913671C>T	ENST00000371605.3	-	10	1657	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000341511.6_Missense_Mutation_p.E505K|ABCA2_ENST00000265662.5_Missense_Mutation_p.E505K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	504					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTGCCCTGCTCCAGGAAGCTG	0.652																																						uc011mem.1		NA																	0					0						c.(1510-1512)GAG>AAG		ATP-binding cassette, sub-family A, member 2							27.0	32.0	30.0					9																	139913671		2061	4190	6251	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139913671C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1510G>A	9.37:g.139913671C>T	ENSP00000360666:p.Glu504Lys					ABCA2_uc011mel.1_Missense_Mutation_p.E505K|ABCA2_uc004ckl.1_Missense_Mutation_p.E435K|ABCA2_uc004ckm.1_Missense_Mutation_p.E535K|ABCA2_uc004ckn.1_5'Flank|ABCA2_uc004cko.1_Missense_Mutation_p.E281K	p.E504K	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	10	1658	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	504					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.1510G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	21.1|21.1	4.092176|4.092176	0.76756|0.76756	.|.	.|.	ENSG00000107331|ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511|ENST00000470535	D;D;D|.	0.88046|.	-2.33;-2.33;-2.33|.	3.89|3.89	2.98|2.98	0.34508|0.34508	.|.	0.379543|.	0.25909|.	U|.	0.027503|.	T|T	0.67154|0.67154	0.2863|0.2863	L|L	0.57536|0.57536	1.79|1.79	0.45777|0.45777	D|D	0.998669|0.998669	P;P|.	0.48764|.	0.915;0.915|.	P;P|.	0.44860|.	0.462;0.462|.	T|T	0.64635|0.64635	-0.6361|-0.6361	10|5	0.56958|.	D|.	0.05|.	.|.	13.3755|13.3755	0.60736|0.60736	0.0:0.8289:0.1711:0.0|0.0:0.8289:0.1711:0.0	.|.	504;535|.	Q9BZC7;E7ETC3|.	ABCA2_HUMAN;.|.	K|E	505;504;535;505|115	ENSP00000265662:E505K;ENSP00000360666:E504K;ENSP00000344155:E505K|.	ENSP00000265662:E505K|.	E|G	-|-	1|2	0|0	ABCA2|ABCA2	139033492|139033492	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.675000|0.675000	0.39556|0.39556	4.501000|4.501000	0.60393|0.60393	0.726000|0.726000	0.32339|0.32339	0.486000|0.486000	0.48141|0.48141	GAG|GGA		0.652	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		6	31	0	0	0	0	6	31				
WWC3	55841	broad.mit.edu	37	X	10106854	10106854	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:10106854T>A	ENST00000380861.4	+	21	3353	c.2962T>A	c.(2962-2964)Tgc>Agc	p.C988S	WWC3_ENST00000454666.1_Missense_Mutation_p.C988S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	988					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGAGGAGCTCTGCGCCCTCCG	0.677																																						uc004csx.3		NA																	0				ovary(4)	4						c.(2962-2964)TGC>AGC		WWC family member 3							32.0	25.0	28.0					X																	10106854		2202	4299	6501	SO:0001583	missense	55841							g.chrX:10106854T>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2962T>A	X.37:g.10106854T>A	ENSP00000370242:p.Cys988Ser					WWC3_uc010nds.2_Missense_Mutation_p.C652S|WWC3_uc010ndt.2_RNA	p.C988S	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			21	3160	+			988			Potential.		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.2962T>A	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	T	0.325	-0.959381	0.02267	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.28069	1.63;1.63	5.32	1.2	0.21068	.	0.368603	0.34750	N	0.003701	T	0.12347	0.0300	N	0.05078	-0.115	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.30179	-0.9987	9	.	.	.	-4.3967	8.4394	0.32805	0.1272:0.0:0.4645:0.4083	.	988	Q9ULE0	WWC3_HUMAN	S	988;988;483	ENSP00000370242:C988S;ENSP00000399584:C988S	.	C	+	1	0	WWC3	10066854	0.977000	0.34250	0.011000	0.14972	0.633000	0.38033	0.835000	0.27531	-0.087000	0.12528	0.430000	0.28490	TGC		0.677	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		7	28	0	0	0	0	7	28				
CLCN4	1183	broad.mit.edu	37	X	10176392	10176392	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:10176392C>G	ENST00000380833.4	+	9	1542	c.1151C>G	c.(1150-1152)gCc>gGc	p.A384G	CLCN4_ENST00000380829.1_Missense_Mutation_p.A353G|CLCN4_ENST00000421085.2_Missense_Mutation_p.A290G	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	384					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						GCCATCATTGCCTACCCCAAT	0.577																																					Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.3		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1150-1152)GCC>GGC		chloride channel 4							182.0	170.0	174.0					X																	10176392		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:10176392C>G	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.1151C>G	X.37:g.10176392C>G	ENSP00000370213:p.Ala384Gly					CLCN4_uc011mid.1_Missense_Mutation_p.A290G	p.A384G	NM_001830	NP_001821	P51793	CLCN4_HUMAN			9	1581	+			384			Helical; (By similarity).		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.1151C>G	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	c	18.19	3.568413	0.65651	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94280	-3.39;-3.39;-3.39	5.71	5.71	0.89125	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.90669	0.7073	L	0.38649	1.16	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	D	0.86187	0.1610	10	0.48119	T	0.1	-34.7054	18.999	0.92826	0.0:1.0:0.0:0.0	.	384	P51793	CLCN4_HUMAN	G	384;353;290	ENSP00000370213:A384G;ENSP00000370209:A353G;ENSP00000405754:A290G	ENSP00000370209:A353G	A	+	2	0	CLCN4	10136392	1.000000	0.71417	0.921000	0.36526	0.935000	0.57460	7.657000	0.83745	2.436000	0.82500	0.592000	0.82586	GCC		0.577	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			47	261	0	0	0	0	47	261				
FRMPD4	9758	broad.mit.edu	37	X	12736348	12736348	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:12736348G>A	ENST00000380682.1	+	16	3909	c.3403G>A	c.(3403-3405)Gat>Aat	p.D1135N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1135					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGAGCTCCTGATGGAGAAAC	0.512																																						uc004cuz.1		NA																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(3403-3405)GAT>AAT		FERM and PDZ domain containing 4							177.0	171.0	173.0					X																	12736348		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736348G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3403G>A	X.37:g.12736348G>A	ENSP00000370057:p.Asp1135Asn					FRMPD4_uc011mij.1_Missense_Mutation_p.D1127N	p.D1135N	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			16	3909	+			1135					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.3403G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029118	0.35797	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05925	3.37	5.55	5.55	0.83447	.	0.652937	0.15516	N	0.258314	T	0.09158	0.0226	L	0.44542	1.39	0.09310	N	0.999996	B;B	0.27559	0.008;0.181	B;B	0.26969	0.004;0.075	T	0.15521	-1.0434	10	0.59425	D	0.04	-2.3187	16.7484	0.85479	0.0:0.0:1.0:0.0	.	1127;1135	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	N	1135;1126;1124	ENSP00000370057:D1135N	ENSP00000304583:D1124N	D	+	1	0	FRMPD4	12646269	0.991000	0.36638	0.561000	0.28357	0.903000	0.53119	4.962000	0.63687	2.330000	0.79161	0.600000	0.82982	GAT		0.512	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		34	273	0	0	0	0	34	273				
IL1RAPL1	11141	broad.mit.edu	37	X	29686564	29686564	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:29686564C>T	ENST00000378993.1	+	6	1394	c.721C>T	c.(721-723)Cca>Tca	p.P241S	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.P241S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	241					calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GACTGATAAGCCACCCAAGCT	0.368																																						uc004dby.2		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(721-723)CCA>TCA		interleukin 1 receptor accessory protein-like 1							88.0	80.0	83.0					X																	29686564		2202	4299	6501	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29686564C>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.721C>T	X.37:g.29686564C>T	ENSP00000368278:p.Pro241Ser						p.P241S	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			6	1229	+			241			Extracellular (Potential).		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.721C>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642041	0.67244	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.04603	3.59;3.59	5.02	5.02	0.67125	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	M	0.73319	2.225	0.45439	D	0.99841	P	0.52316	0.952	P	0.46585	0.521	T	0.02713	-1.1120	9	.	.	.	.	14.616	0.68549	0.0:1.0:0.0:0.0	.	241	Q9NZN1	IRPL1_HUMAN	S	241	ENSP00000368278:P241S;ENSP00000305200:P241S	.	P	+	1	0	IL1RAPL1	29596485	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.834000	0.62774	2.327000	0.79052	0.506000	0.49869	CCA		0.368	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		4	32	0	0	0	0	4	32				
DMD	1756	broad.mit.edu	37	X	31496268	31496268	+	Silent	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:31496268G>C	ENST00000357033.4	-	59	9098	c.8892C>G	c.(8890-8892)ggC>ggG	p.G2964G	DMD_ENST00000445312.1_5'Flank|DMD_ENST00000378707.3_Silent_p.G504G|DMD_ENST00000359836.1_Silent_p.G504G|DMD_ENST00000541735.1_Silent_p.G504G|DMD_ENST00000343523.2_Silent_p.G504G|DMD_ENST00000474231.1_Silent_p.G504G|DMD_ENST00000378677.2_Silent_p.G2960G	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2964					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGAGGAGATCGCCCACGGGCT	0.532																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(8890-8892)GGC>GGG		dystrophin Dp427m isoform							57.0	47.0	50.0					X																	31496268		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31496268G>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8892C>G	X.37:g.31496268G>C						DMD_uc004dcq.1_Silent_p.G235G|DMD_uc004dcr.1_Silent_p.G504G|DMD_uc004dcs.1_Silent_p.G504G|DMD_uc004dct.1_Silent_p.G504G|DMD_uc004dcu.1_Silent_p.G504G|DMD_uc004dcv.1_Silent_p.G504G|DMD_uc004dcw.2_Silent_p.G1620G|DMD_uc004dcx.2_Silent_p.G1623G|DMD_uc004dcz.2_Silent_p.G2841G|DMD_uc004dcy.1_Silent_p.G2960G|DMD_uc004ddb.1_Silent_p.G2956G	p.G2964G	NM_004006	NP_003997	P11532	DMD_HUMAN			59	9136	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2964			Spectrin 22.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.8892C>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	0.089	-1.170948	0.01660	.	.	ENSG00000198947	ENST00000465285	.	.	.	5.4	-10.8	0.00216	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62044	-0.6937	4	.	.	.	.	5.6471	0.17596	0.1701:0.1452:0.4746:0.21	.	.	.	.	G	693	.	.	R	-	1	2	DMD	31406189	0.000000	0.05858	0.017000	0.16124	0.324000	0.28378	-2.946000	0.00680	-4.954000	0.00026	-1.515000	0.00940	CGA		0.532	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		4	28	0	0	0	0	4	28				
DMD	1756	broad.mit.edu	37	X	31496480	31496480	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:31496480C>G	ENST00000357033.4	-	59	8886	c.8680G>C	c.(8680-8682)Gag>Cag	p.E2894Q	DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378707.3_Missense_Mutation_p.E434Q|DMD_ENST00000359836.1_Missense_Mutation_p.E434Q|DMD_ENST00000541735.1_Missense_Mutation_p.E434Q|DMD_ENST00000343523.2_Missense_Mutation_p.E434Q|DMD_ENST00000474231.1_Missense_Mutation_p.E434Q|DMD_ENST00000378677.2_Missense_Mutation_p.E2890Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2894					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTCTCTCCTCAGGAGGCAGC	0.443																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(8680-8682)GAG>CAG		dystrophin Dp427m isoform							67.0	65.0	66.0					X																	31496480		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31496480C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8680G>C	X.37:g.31496480C>G	ENSP00000354923:p.Glu2894Gln					DMD_uc004dcq.1_Missense_Mutation_p.E165Q|DMD_uc004dcr.1_Missense_Mutation_p.E434Q|DMD_uc004dcs.1_Missense_Mutation_p.E434Q|DMD_uc004dct.1_Missense_Mutation_p.E434Q|DMD_uc004dcu.1_Missense_Mutation_p.E434Q|DMD_uc004dcv.1_Missense_Mutation_p.E434Q|DMD_uc004dcw.2_Missense_Mutation_p.E1550Q|DMD_uc004dcx.2_Missense_Mutation_p.E1553Q|DMD_uc004dcz.2_Missense_Mutation_p.E2771Q|DMD_uc004dcy.1_Missense_Mutation_p.E2890Q|DMD_uc004ddb.1_Missense_Mutation_p.E2886Q	p.E2894Q	NM_004006	NP_003997	P11532	DMD_HUMAN			59	8924	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2894			Spectrin 20.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.8680G>C	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.293502|4.293502	0.80914|0.80914	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.66460|.	3.84;-0.2;-0.21;3.79;3.8;3.8;3.8;3.84|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.194691|.	0.23608|.	U|.	0.046377|.	T|.	0.76856|.	0.4046|.	M|M	0.78049|0.78049	2.395|2.395	0.53005|0.53005	D|D	0.999969|0.999969	P;D;P;D;D;P;D;D;D;D;D|.	0.76494|.	0.666;0.996;0.93;0.999;0.999;0.919;0.987;0.961;0.978;0.987;0.999|.	P;P;B;D;D;P;P;P;P;P;D|.	0.74023|.	0.598;0.794;0.419;0.915;0.915;0.761;0.811;0.723;0.666;0.821;0.982|.	T|.	0.78091|.	-0.2339|.	10|.	0.72032|.	D|.	0.01|.	.|.	17.4706|17.4706	0.87645|0.87645	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2886;2894;2890;1553;1550;434;434;434;434;434;2771|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	Q|S	2886;1553;1550;590;2890;2894;434;434;2894;2771;434;434;434|622	ENSP00000350765:E590Q;ENSP00000367948:E2890Q;ENSP00000354923:E2894Q;ENSP00000352894:E434Q;ENSP00000340057:E434Q;ENSP00000367979:E434Q;ENSP00000444119:E434Q;ENSP00000417123:E434Q|.	ENSP00000340057:E434Q|.	E|X	-|-	1|2	0|2	DMD|DMD	31406401|31406401	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.874000|0.874000	0.50279|0.50279	7.278000|7.278000	0.78587|0.78587	2.397000|2.397000	0.81536|0.81536	0.529000|0.529000	0.55759|0.55759	GAG|TGA		0.443	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		17	83	0	0	0	0	17	83				
ITIH6	347365	broad.mit.edu	37	X	54823474	54823474	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:54823474G>A	ENST00000218436.6	-	2	187	c.158C>T	c.(157-159)aCc>aTc	p.T53I		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	53	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGTGACCAAGGTGTGGGCATA	0.473																																						uc004dtj.2		NA																	0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(157-159)ACC>ATC		inter-alpha (globulin) inhibitor H5-like							161.0	119.0	133.0					X																	54823474		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54823474G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.158C>T	X.37:g.54823474G>A	ENSP00000218436:p.Thr53Ile						p.T53I	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			2	188	-			53			VIT.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.158C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839154	0.32513	.	.	ENSG00000102313	ENST00000218436	T	0.26223	1.75	4.82	2.04	0.26737	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.083086	0.46758	N	0.000262	T	0.48095	0.1481	M	0.84948	2.725	0.20196	N	0.999925	D	0.54601	0.967	D	0.68483	0.958	T	0.37686	-0.9695	10	0.72032	D	0.01	.	6.792	0.23705	0.172:0.1423:0.6857:0.0	.	53	Q6UXX5	ITH5L_HUMAN	I	53	ENSP00000218436:T53I	ENSP00000218436:T53I	T	-	2	0	ITIH5L	54840199	1.000000	0.71417	0.001000	0.08648	0.089000	0.18198	5.095000	0.64529	0.011000	0.14865	-0.322000	0.08575	ACC		0.473	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		11	34	0	0	0	0	11	34				
SLC7A3	84889	broad.mit.edu	37	X	70146774	70146774	+	Silent	SNP	G	G	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:70146774G>A	ENST00000374299.3	-	9	1548	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	SLC7A3_ENST00000298085.4_Silent_p.I468I			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	468					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGGAGTGGGGATGGAGTTGA	0.483																																						uc004dyn.2		NA																	0				ovary(1)|kidney(1)	2						c.(1402-1404)ATC>ATT		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						116.0	102.0	107.0					X																	70146774		2203	4300	6503	SO:0001819	synonymous_variant	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70146774G>A	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1404C>T	X.37:g.70146774G>A						SLC7A3_uc004dyo.2_Silent_p.I468I	p.I468I	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			9	1562	-	Renal(35;0.156)		468			Cytoplasmic (Potential).		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Silent	SNP	ENST00000374299.3	37	c.1404C>T	CCDS14404.1																																																																																				0.483	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		6	51	0	0	0	0	6	51				
KIAA2022	340533	broad.mit.edu	37	X	73964112	73964112	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:73964112C>T	ENST00000055682.6	-	3	891	c.280G>A	c.(280-282)Gct>Act	p.A94T		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	94					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTCACAGAAGCACTATTAGCA	0.512																																						uc004eby.2		NA																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(280-282)GCT>ACT		hypothetical protein LOC340533							97.0	87.0	90.0					X																	73964112		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73964112C>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.280G>A	X.37:g.73964112C>T	ENSP00000055682:p.Ala94Thr						p.A94T	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	897	-			94					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.280G>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200464	0.22121	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32988	1.43;1.43	5.11	1.05	0.20165	.	1.005240	0.07985	N	0.986156	T	0.17408	0.0418	N	0.22421	0.69	0.25648	N	0.986122	B	0.06786	0.001	B	0.06405	0.002	T	0.31724	-0.9933	10	0.46703	T	0.11	0.4133	0.6258	0.00786	0.2455:0.3385:0.1168:0.2993	.	94	Q5QGS0	K2022_HUMAN	T	94	ENSP00000362567:A94T;ENSP00000055682:A94T	ENSP00000055682:A94T	A	-	1	0	KIAA2022	73880837	1.000000	0.71417	0.968000	0.41197	0.984000	0.73092	1.708000	0.37899	0.192000	0.20272	0.544000	0.68410	GCT		0.512	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		21	101	0	0	0	0	21	101				
IL1RAPL2	26280	broad.mit.edu	37	X	104984567	104984567	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:104984567G>C	ENST00000372582.1	+	8	1687	c.931G>C	c.(931-933)Gaa>Caa	p.E311Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E311Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	311	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGGAGAAAAAGAAGTTGAATT	0.443																																						uc004elz.1		NA																	0				breast(2)|ovary(1)	3						c.(931-933)GAA>CAA		interleukin 1 receptor accessory protein-like 2							94.0	87.0	90.0					X																	104984567		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104984567G>C	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.931G>C	X.37:g.104984567G>C	ENSP00000361663:p.Glu311Gln						p.E311Q	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			8	1687	+			311			Ig-like C2-type 3.|Extracellular (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.931G>C	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502086	0.85176	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03004	4.08;4.08	5.88	5.88	0.94601	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.14874	0.0359	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	D	0.64776	0.929	T	0.01858	-1.1259	10	0.29301	T	0.29	.	18.0058	0.89209	0.0:0.0:1.0:0.0	.	311	Q9NP60	IRPL2_HUMAN	Q	311	ENSP00000361663:E311Q;ENSP00000344976:E311Q	ENSP00000344976:E311Q	E	+	1	0	IL1RAPL2	104871223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.010000	0.76353	2.474000	0.83562	0.600000	0.82982	GAA		0.443	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		12	61	0	0	0	0	12	61				
TRPC5	7224	broad.mit.edu	37	X	111097124	111097124	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:111097124T>A	ENST00000262839.2	-	4	2029	c.1111A>T	c.(1111-1113)Aca>Tca	p.T371S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	371					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAGGATGCTGTGTGGCAGATA	0.498																																						uc004epl.1		NA																	0				urinary_tract(1)	1						c.(1111-1113)ACA>TCA		transient receptor potential cation channel,							127.0	110.0	116.0					X																	111097124		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111097124T>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1111A>T	X.37:g.111097124T>A	ENSP00000262839:p.Thr371Ser					TRPC5_uc004epm.1_Missense_Mutation_p.T371S	p.T371S	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			4	2030	-			371			Extracellular (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1111A>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	T	10.05	1.244827	0.22796	.	.	ENSG00000072315	ENST00000262839	D	0.86497	-2.13	4.95	4.95	0.65309	.	0.045861	0.85682	D	0.000000	T	0.74321	0.3701	N	0.16201	0.385	0.80722	D	1	B;B	0.20368	0.044;0.018	B;B	0.22152	0.021;0.038	T	0.68454	-0.5404	10	0.02654	T	1	-0.0161	13.9562	0.64150	0.0:0.0:0.0:1.0	.	372;371	Q59G51;Q9UL62	.;TRPC5_HUMAN	S	371	ENSP00000262839:T371S	ENSP00000262839:T371S	T	-	1	0	TRPC5	110983780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	1.939000	0.56221	0.486000	0.48141	ACA		0.498	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		25	66	0	0	0	0	25	66				
AMOT	154796	broad.mit.edu	37	X	112033890	112033890	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:112033890G>C	ENST00000524145.1	-	8	2121	c.2047C>G	c.(2047-2049)Cag>Gag	p.Q683E	AMOT_ENST00000371958.1_Missense_Mutation_p.Q451E|AMOT_ENST00000371962.1_Missense_Mutation_p.Q451E|AMOT_ENST00000371959.3_Missense_Mutation_p.Q683E|AMOT_ENST00000304758.1_Missense_Mutation_p.Q274E			Q4VCS5	AMOT_HUMAN	angiomotin	683					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AAATATTTCTGCTCCCACTTT	0.493																																						uc004epr.2		NA																	0				ovary(1)	1						c.(2047-2049)CAG>GAG		angiomotin isoform 1							222.0	200.0	207.0					X																	112033890		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112033890G>C	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2047C>G	X.37:g.112033890G>C	ENSP00000429013:p.Gln683Glu					AMOT_uc004eps.2_Missense_Mutation_p.Q274E	p.Q683E	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			7	2047	-			683			Potential.		Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.2047C>G	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902757	0.72754	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.29917	2.04;1.81;2.06;1.81;1.55	6.08	6.08	0.98989	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	M	0.71036	2.16	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.53229	-0.8468	10	0.44086	T	0.13	-14.5982	18.3623	0.90379	0.0:0.0:1.0:0.0	.	683	Q4VCS5	AMOT_HUMAN	E	274;683;451;683;451	ENSP00000305557:Q274E;ENSP00000361027:Q683E;ENSP00000361030:Q451E;ENSP00000429013:Q683E;ENSP00000361026:Q451E	ENSP00000305557:Q274E	Q	-	1	0	AMOT	111920546	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.562000	0.86427	0.600000	0.82982	CAG		0.493	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		39	168	0	0	0	0	39	168				
GABRQ	55879	broad.mit.edu	37	X	151820062	151820062	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:151820062C>G	ENST00000370306.2	+	8	995	c.975C>G	c.(973-975)atC>atG	p.I325M		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	325					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTCCTGTATCAAGGCCATTG	0.448																																						uc004ffp.1		NA																	0				ovary(2)|pancreas(1)	3						c.(973-975)ATC>ATG		gamma-aminobutyric acid (GABA) receptor, theta							372.0	294.0	320.0					X																	151820062		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151820062C>G	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.975C>G	X.37:g.151820062C>G	ENSP00000359329:p.Ile325Met						p.I325M	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			8	995	+	Acute lymphoblastic leukemia(192;6.56e-05)		325					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.975C>G	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551074	0.27739	.	.	ENSG00000147402	ENST00000370306	D	0.85556	-2.0	5.88	3.03	0.35002	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.546626	0.16865	N	0.196360	D	0.87212	0.6121	L	0.57536	1.79	0.33291	D	0.563574	D	0.58970	0.984	P	0.57101	0.813	D	0.87360	0.2343	10	0.87932	D	0	.	8.2392	0.31650	0.0:0.4673:0.443:0.0897	.	325	Q9UN88	GBRT_HUMAN	M	325	ENSP00000359329:I325M	ENSP00000359329:I325M	I	+	3	3	GABRQ	151570718	0.999000	0.42202	0.789000	0.31954	0.060000	0.15804	0.511000	0.22739	0.189000	0.20188	-0.218000	0.12543	ATC		0.448	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		33	84	0	0	0	0	33	84				
MAGEA12	4111	broad.mit.edu	37	X	151900413	151900413	+	Missense_Mutation	SNP	A	A	T	rs369452305		TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chrX:151900413A>T	ENST00000357916.4	-	2	543	c.388T>A	c.(388-390)Ttc>Atc	p.F130I	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393900.3_Missense_Mutation_p.F130I|CSAG1_ENST00000370287.3_5'Flank|CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393869.3_Missense_Mutation_p.F130I|CSAG1_ENST00000370291.2_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	130	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTTTGTGAATGGCTCCCTG	0.498																																						uc010ntp.2		NA																	0				skin(1)	1						c.(388-390)TTC>ATC		melanoma antigen family A, 12							144.0	133.0	136.0					X																	151900413		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900413A>T		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.388T>A	X.37:g.151900413A>T	ENSP00000350592:p.Phe130Ile					MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.F130I|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	p.F130I	NM_005367	NP_005358	P43365	MAGAC_HUMAN			3	742	-	Acute lymphoblastic leukemia(192;6.56e-05)		130			MAGE.		Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.388T>A	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.192361	0.00302	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.01787	4.64;4.64;4.64	0.8	-1.6	0.08426	.	0.713720	0.13509	N	0.382650	T	0.00468	0.0015	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.41270	-0.9518	9	0.02654	T	1	.	.	.	.	.	130	P43365	MAGAC_HUMAN	I	130	ENSP00000350592:F130I;ENSP00000377447:F130I;ENSP00000377478:F130I	ENSP00000350592:F130I	F	-	1	0	MAGEA12	151651069	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.888000	0.04148	-0.755000	0.04709	0.143000	0.16000	TTC		0.498	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		47	117	0	0	0	0	47	117				
SSTR1	6751	broad.mit.edu	37	14	38679129	38679130	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr14:38679129_38679130insT	ENST00000267377.2	+	3	1152_1153	c.535_536insT	c.(535-537)ctgfs	p.L179fs		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	179					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GGTAGTAAACCTGGGCGTGTGG	0.644																																						uc001wul.1		NA																	0				central_nervous_system(3)|ovary(1)|lung(1)	5						c.(535-537)CTGfs		somatostatin receptor 1	Octreotide(DB00104)																																			SO:0001589	frameshift_variant	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679129_38679130insT		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.536dupT	14.37:g.38679130_38679130dupT	ENSP00000267377:p.Leu179fs					SSTR1_uc010amu.1_Intron	p.L179fs	NM_001049	NP_001040	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1152_1153	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		179			Helical; Name=4; (Potential).			Frame_Shift_Ins	INS	ENST00000267377.2	37	c.535_536insT	CCDS9666.1																																																																																				0.644	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			10	49	NA	NA	NA	NA	10	49	---	---	---	---
FAM222B	55731	broad.mit.edu	37	17	27085655	27085655	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr17:27085655delG	ENST00000341217.5	-	3	1537	c.1322delC	c.(1321-1323)ccafs	p.P441fs	FAM222B_ENST00000452648.3_Frame_Shift_Del_p.P441fs|FAM222B_ENST00000581407.1_Frame_Shift_Del_p.P441fs|FAM222B_ENST00000582266.1_3'UTR	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	441																	GTAGGCCAATGGGGCTGCCAT	0.612																																						uc002hct.1		NA																	0				ovary(1)	1						c.(1321-1323)CCAfs		hypothetical protein LOC55731							18.0	19.0	19.0					17																	27085655		1979	4132	6111	SO:0001589	frameshift_variant	55731							g.chr17:27085655delG	AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.1322delC	17.37:g.27085655delG	ENSP00000343115:p.Pro441fs					C17orf63_uc010wax.1_Frame_Shift_Del_p.P441fs|C17orf63_uc010way.1_Frame_Shift_Del_p.P441fs|C17orf63_uc002hcw.2_Frame_Shift_Del_p.P313fs	p.P441fs	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)		3	1589	-	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		441					Q9H6F3|Q9NVJ4|Q9NXN6	Frame_Shift_Del	DEL	ENST00000341217.5	37	c.1322delC	CCDS45637.1																																																																																				0.612	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182		11	30	NA	NA	NA	NA	11	30	---	---	---	---
ZNF431	170959	broad.mit.edu	37	19	21365549	21365549	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr19:21365549delC	ENST00000311048.7	+	5	587	c.443delC	c.(442-444)tccfs	p.S148fs	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	148					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGAAAAGGCTCCGCAAGTGTA	0.358																																						uc002npp.2		NA																	0				central_nervous_system(2)	2						c.(442-444)TCCfs		zinc finger protein 431							78.0	79.0	79.0					19																	21365549		2203	4300	6503	SO:0001589	frameshift_variant	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21365549delC	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.443delC	19.37:g.21365549delC	ENSP00000308578:p.Ser148fs					ZNF431_uc010ecq.2_Frame_Shift_Del_p.S57fs|ZNF431_uc010ecr.2_Frame_Shift_Del_p.S149fs	p.S148fs	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN			5	590	+			148					A8KAK7|Q8IWC4	Frame_Shift_Del	DEL	ENST00000311048.7	37	c.443delC	CCDS32979.1																																																																																				0.358	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		9	55	NA	NA	NA	NA	9	55	---	---	---	---
XKR3	150165	broad.mit.edu	37	22	17288660	17288660	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr22:17288660delA	ENST00000331428.5	-	2	406	c.304delT	c.(304-306)tggfs	p.W102fs		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGAATGTGCCAAAAAAGTAAT	0.333																																						uc002zlv.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(304-306)TGGfs		X Kell blood group precursor-related family,							88.0	84.0	85.0					22																	17288660		1846	4097	5943	SO:0001589	frameshift_variant	150165					integral to membrane|plasma membrane		g.chr22:17288660delA	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.304delT	22.37:g.17288660delA	ENSP00000331704:p.Trp102fs					XKR3_uc011agf.1_Frame_Shift_Del_p.W102fs	p.W102fs	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN			2	402	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	102			Helical; (Potential).		B2RPN1|Q52PG8|Q8N7E1	Frame_Shift_Del	DEL	ENST00000331428.5	37	c.304delT	CCDS42975.1																																																																																				0.333	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		18	55	NA	NA	NA	NA	18	55	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38834618	38834618	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr6:38834618delT	ENST00000359357.3	+	45	6262	c.6008delT	c.(6007-6009)cttfs	p.L2003fs	DNAH8_ENST00000441566.1_Intron|DNAH8_ENST00000449981.2_Frame_Shift_Del_p.L2220fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2003	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTTACGTTCTTTACAAACTC	0.303																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(6007-6009)CTTfs		dynein, axonemal, heavy polypeptide 8							69.0	70.0	70.0					6																	38834618		2203	4299	6502	SO:0001589	frameshift_variant	1769							g.chr6:38834618delT	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6008delT	6.37:g.38834618delT	ENSP00000352312:p.Leu2003fs						p.L2003fs	NM_001371	NP_001362					45	6608	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Del	DEL	ENST00000359357.3	37	c.6008delT																																																																																					0.303	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		10	18	NA	NA	NA	NA	10	18	---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84199390	84199390	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7371-01A-11D-2012-08	TCGA-CR-7371-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68201be8-a1a9-4c78-ad99-3c767ca8366b	a676c12d-d9aa-4f59-8d74-c0d2684b3631	g.chr9:84199390delC	ENST00000376499.3	-	19	3242	c.2178delG	c.(2176-2178)cggfs	p.R726fs		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	726					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CATAGGGGGTCCGCCAAGCAT	0.453																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	uc004aly.2		NA																	0				ovary(1)|skin(1)	2						c.(2176-2178)CGGfs		transducin-like enhancer protein 1							97.0	98.0	98.0					9																	84199390		2203	4300	6503	SO:0001589	frameshift_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84199390delC		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.2178delG	9.37:g.84199390delC	ENSP00000365682:p.Arg726fs					TLE1_uc004alz.2_Frame_Shift_Del_p.R736fs|TLE1_uc011lsr.1_Frame_Shift_Del_p.R711fs	p.R726fs	NM_005077	NP_005068	Q04724	TLE1_HUMAN			19	2619	-			726			WD 5.		A8K495|Q5T3G4|Q969V9	Frame_Shift_Del	DEL	ENST00000376499.3	37	c.2178delG	CCDS6661.1																																																																																				0.453	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		15	87	NA	NA	NA	NA	15	87	---	---	---	---
