#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
EPPK1	83481	broad.mit.edu	37	8	144944117	144944117	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:144944117C>A	ENST00000525985.1	-	2	3376	c.3305G>T	c.(3304-3306)tGc>tTc	p.C1102F				P58107	EPIPL_HUMAN	epiplakin 1	1102						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCCCTGGGGCACTCCTCCAG	0.657																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3304-3306)tGc>tTc		epiplakin 1							23.0	25.0	24.0					8																	144944117		2022	4181	6203	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144944117C>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3305G>T	8.37:g.144944117C>A	ENSP00000436337:p.Cys1102Phe						p.C1102F			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	3376	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1102					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.3305G>T		.	.	.	.	.	.	.	.	.	.	C	14.92	2.679038	0.47886	.	.	ENSG00000227184	ENST00000525985	T	0.71341	-0.56	4.13	4.13	0.48395	.	.	.	.	.	T	0.81356	0.4805	M	0.76328	2.33	0.42411	D	0.992605	D	0.71674	0.998	D	0.62955	0.909	D	0.84250	0.0477	9	0.66056	D	0.02	.	13.9043	0.63823	0.0:1.0:0.0:0.0	.	1102	E9PPU0	.	F	1102	ENSP00000436337:C1102F	ENSP00000436337:C1102F	C	-	2	0	EPPK1	145016105	1.000000	0.71417	0.421000	0.26609	0.098000	0.18820	5.732000	0.68563	2.124000	0.65301	0.313000	0.20887	TGC		0.657	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		12	19	1	0	2.27111e-07	0.013537	2.75109e-07	12	19				
EPCAM	4072	broad.mit.edu	37	2	47602414	47602414	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:47602414C>A	ENST00000263735.4	+	4	825	c.467C>A	c.(466-468)cCt>cAt	p.P156H	MIR559_ENST00000385188.1_RNA|EPCAM_ENST00000405271.1_Missense_Mutation_p.P184H	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	156					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						AGAGAAAAACCTTATGATAGT	0.348																																						ENST00000263735.4																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						c.(466-468)cCt>cAt		epithelial cell adhesion molecule							100.0	99.0	99.0					2																	47602414		2203	4299	6502	SO:0001583	missense	4072				positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47602414C>A	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.467C>A	2.37:g.47602414C>A	ENSP00000263735:p.Pro156His					EPCAM_ENST00000405271.1_Missense_Mutation_p.P184H	p.P156H	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN			4	825	+			156					P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Missense_Mutation	SNP	ENST00000263735.4	37	c.467C>A	CCDS1833.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092167	0.76756	.	.	ENSG00000119888	ENST00000405271;ENST00000263735	T;T	0.72394	-0.65;-0.64	5.13	5.13	0.70059	.	0.154912	0.64402	D	0.000014	D	0.82384	0.5025	M	0.68952	2.095	0.49213	D	0.999761	D;D	0.89917	1.0;1.0	D;D	0.76575	0.982;0.988	D	0.83479	0.0063	10	0.72032	D	0.01	-19.3832	15.7986	0.78433	0.0:1.0:0.0:0.0	.	156;184	P16422;B5MCA4	EPCAM_HUMAN;.	H	184;156	ENSP00000385476:P184H;ENSP00000263735:P156H	ENSP00000263735:P156H	P	+	2	0	EPCAM	47455918	0.994000	0.37717	0.980000	0.43619	0.919000	0.55068	4.283000	0.58977	2.827000	0.97445	0.650000	0.86243	CCT		0.348	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			15	56	1	0	3.51602e-12	0.049695	4.49056e-12	15	56				
LRRC42	115353	broad.mit.edu	37	1	54417937	54417937	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:54417937C>T	ENST00000371370.3	+	3	786	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	LRRC42_ENST00000319223.4_Missense_Mutation_p.L89F	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	89										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CGCCAAATCCCTCTTCAGCCT	0.483																																						ENST00000371370.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(265-267)Ctc>Ttc		leucine rich repeat containing 42							121.0	107.0	112.0					1																	54417937		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54417937C>T	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.265C>T	1.37:g.54417937C>T	ENSP00000360421:p.Leu89Phe					LRRC42_ENST00000319223.4_Missense_Mutation_p.L89F	p.L89F	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN			3	786	+			89					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.265C>T	CCDS585.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379529	0.82682	.	.	ENSG00000116212	ENST00000371370;ENST00000371368;ENST00000319223;ENST00000444987	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.73079	0.3541	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.996	T	0.74740	-0.3563	9	0.87932	D	0	-14.6177	20.0915	0.97822	0.0:1.0:0.0:0.0	.	89;89;89	E7EP35;A6NL66;Q9Y546	.;.;LRC42_HUMAN	F	89	.	ENSP00000318185:L89F	L	+	1	0	LRRC42	54190525	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.372000	0.66156	2.834000	0.97654	0.650000	0.86243	CTC		0.483	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		13	168	0	0	0	0.016723	0	13	168				
ZNF737	100129842	broad.mit.edu	37	19	20728598	20728598	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:20728598C>G	ENST00000427401.4	-	4	505	c.411G>C	c.(409-411)ttG>ttC	p.L137F		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GAGTAGTTGTCAAATATTGGT	0.299																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(409-411)ttG>ttC		zinc finger protein 737							78.0	58.0	64.0					19																	20728598		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728598C>G	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.411G>C	19.37:g.20728598C>G	ENSP00000395733:p.Leu137Phe						p.L137F	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	505	-			137					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.411G>C	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	8.141	0.785324	0.16189	.	.	ENSG00000237440	ENST00000427401	T	0.07021	3.23	0.1	0.1	0.14510	.	.	.	.	.	T	0.13415	0.0325	M	0.81239	2.535	0.26966	N	0.9657	B	0.24132	0.098	B	0.34418	0.182	T	0.29761	-1.0001	9	0.37606	T	0.19	.	5.97	0.19346	0.0:0.9994:0.0:6.0E-4	.	137	C9JHM3	.	F	137	ENSP00000395733:L137F	ENSP00000395733:L137F	L	-	3	2	ZNF737	20520438	0.020000	0.18652	0.247000	0.24249	0.243000	0.25628	0.179000	0.16840	0.170000	0.19704	0.173000	0.16961	TTG		0.299	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		8	47	0	0	0	0.038147	0	8	47				
ZNF804A	91752	broad.mit.edu	37	2	185803488	185803488	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:185803488T>A	ENST00000302277.6	+	4	3959	c.3365T>A	c.(3364-3366)tTt>tAt	p.F1122Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1122							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gcagGAACCTTTAAAGTGCTT	0.522																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(3364-3366)tTt>tAt		zinc finger protein 804A							83.0	86.0	85.0					2																	185803488		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803488T>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3365T>A	2.37:g.185803488T>A	ENSP00000303252:p.Phe1122Tyr						p.F1122Y	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	3959	+			1122					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.3365T>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302764	0.60195	.	.	ENSG00000170396	ENST00000302277	T	0.06768	3.26	5.03	5.03	0.67393	.	0.128988	0.34879	N	0.003614	T	0.21921	0.0528	M	0.62723	1.935	0.28279	N	0.924063	D	0.69078	0.997	P	0.60789	0.879	T	0.02546	-1.1143	10	0.66056	D	0.02	-10.178	12.5019	0.55960	0.0:0.0:0.0:1.0	.	1122	Q7Z570	Z804A_HUMAN	Y	1122	ENSP00000303252:F1122Y	ENSP00000303252:F1122Y	F	+	2	0	ZNF804A	185511733	0.036000	0.19791	0.856000	0.33681	0.947000	0.59692	2.175000	0.42491	1.882000	0.54519	0.260000	0.18958	TTT		0.522	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		7	70	0	0	0	0.069234	0	7	70				
PRKCB	5579	broad.mit.edu	37	16	24192240	24192240	+	Silent	SNP	C	C	A	rs17847876		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:24192240C>A	ENST00000321728.7	+	13	1699	c.1524C>A	c.(1522-1524)atC>atA	p.I508I	PRKCB_ENST00000303531.7_Silent_p.I508I	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	508	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.I508I(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CAGACTACATCGCCCCCGAGG	0.542																																						ENST00000303531.7																			2	Substitution - coding silent(2)	p.I508I(2)	large_intestine(2)	central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1522-1524)atC>atA		protein kinase C, beta	Vitamin E(DB00163)						140.0	127.0	132.0					16																	24192240		2197	4300	6497	SO:0001819	synonymous_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24192240C>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1524C>A	16.37:g.24192240C>A						PRKCB_ENST00000321728.7_Silent_p.I508I	p.I508I	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			13	1676	+			508			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.1524C>A	CCDS10618.1																																																																																				0.542	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		15	130	1	0	7.93312e-07	0.020292	9.46337e-07	15	130				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000355232.3_Splice_Site_p.H157R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	5	57	0	0	0	0.014758	0	5	57				
CAPN9	10753	broad.mit.edu	37	1	230898463	230898463	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:230898463G>A	ENST00000271971.2	+	4	580	c.467G>A	c.(466-468)cGc>cAc	p.R156H	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.R93H|CAPN9_ENST00000354537.1_Missense_Mutation_p.R156H	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	156	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TTCAGGGACCGCTTGGTTTTC	0.577																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(466-468)cGc>cAc		calpain 9							120.0	105.0	110.0					1																	230898463		2203	4300	6503	SO:0001583	missense	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230898463G>A	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.467G>A	1.37:g.230898463G>A	ENSP00000271971:p.Arg156His					RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.R93H|CAPN9_ENST00000271971.2_Missense_Mutation_p.R156H	p.R156H	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			4	549	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	156			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	c.467G>A	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422699	0.83559	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	T;T;T	0.16743	2.32;2.32;2.32	5.33	5.33	0.75918	Peptidase C2, calpain, catalytic domain (3);	0.186239	0.46442	D	0.000281	T	0.39545	0.1082	L	0.58101	1.795	0.51767	D	0.999936	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.67725	0.953;0.922;0.915	T	0.09640	-1.0665	10	0.56958	D	0.05	.	19.0115	0.92875	0.0:0.0:1.0:0.0	.	93;156;156	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	H	156;156;93	ENSP00000271971:R156H;ENSP00000346538:R156H;ENSP00000355626:R93H	ENSP00000271971:R156H	R	+	2	0	CAPN9	228965086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.829000	0.62737	2.489000	0.83994	0.591000	0.81541	CGC		0.577	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		28	87	0	0	0	0.030593	0	28	87				
NUP98	4928	broad.mit.edu	37	11	3716751	3716751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:3716751C>T	ENST00000324932.7	-	26	4515	c.4095G>A	c.(4093-4095)tgG>tgA	p.W1365*	NUP98_ENST00000355260.3_Nonsense_Mutation_p.W1365*|NUP98_ENST00000359171.4_Nonsense_Mutation_p.W1365*|NUP98_ENST00000488828.1_5'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1382					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GGAGCTGATGCCAGTCCACCA	0.483			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4093-4095)tgG>tgA		nucleoporin 98kDa							155.0	152.0	153.0					11																	3716751		2201	4298	6499	SO:0001587	stop_gained	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3716751C>T	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4095G>A	11.37:g.3716751C>T	ENSP00000316032:p.Trp1365*					NUP98_ENST00000359171.4_Nonsense_Mutation_p.W1365*|NUP98_ENST00000488828.1_5'UTR|NUP98_ENST00000355260.3_Nonsense_Mutation_p.W1365*	p.W1365*	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	26	4515	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1382					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Nonsense_Mutation	SNP	ENST00000324932.7	37	c.4095G>A	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.961805|4.961805	0.92791|0.92791	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000324932;ENST00000359171;ENST00000355260	.|.	.|.	.|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.45558|.	0.1348|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39800|.	-0.9596|.	3|.	.|0.02654	.|T	.|1	-5.3697|-5.3697	17.8098|17.8098	0.88612|0.88612	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	318|1365	.|.	.|ENSP00000316032:W1365X	A|W	-|-	1|3	0|0	NUP98|NUP98	3673327|3673327	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.836000|0.836000	0.47400|0.47400	7.246000|7.246000	0.78247|0.78247	2.515000|2.515000	0.84797|0.84797	0.558000|0.558000	0.71614|0.71614	GCA|TGG		0.483	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		4	187	0	0	0	0.009096	0	4	187				
RWDD2B	10069	broad.mit.edu	37	21	30380094	30380094	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr21:30380094T>A	ENST00000493196.1	-	4	813	c.713A>T	c.(712-714)gAa>gTa	p.E238V	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	238										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TGACCAGAATTCTTCACAGGC	0.413																																						ENST00000493196.1																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						c.(712-714)gAa>gTa		RWD domain containing 2B							69.0	71.0	70.0					21																	30380094		2203	4300	6503	SO:0001583	missense	10069							g.chr21:30380094T>A	AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.713A>T	21.37:g.30380094T>A	ENSP00000418693:p.Glu238Val					RWDD2B_ENST00000486719.1_5'UTR	p.E238V	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN			4	813	-			238						Missense_Mutation	SNP	ENST00000493196.1	37	c.713A>T	CCDS13582.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774230	0.90108	.	.	ENSG00000156253	ENST00000493196	.	.	.	5.65	5.65	0.86999	Domain of unknown function DUF1115 (1);	0.045301	0.85682	D	0.000000	D	0.84804	0.5553	M	0.89534	3.04	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.73708	0.972;0.981	D	0.87992	0.2750	9	0.87932	D	0	-16.8631	16.0399	0.80667	0.0:0.0:0.0:1.0	.	238;238	Q53FD2;P57060	.;RWD2B_HUMAN	V	238	.	ENSP00000418693:E238V	E	-	2	0	RWDD2B	29301965	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.846000	0.86887	2.371000	0.80710	0.533000	0.62120	GAA		0.413	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1			37	96	0	0	0	0.092188	0	37	96				
USP53	54532	broad.mit.edu	37	4	120190943	120190943	+	Silent	SNP	A	A	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:120190943A>G	ENST00000274030.6	+	15	2565	c.1386A>G	c.(1384-1386)caA>caG	p.Q462Q	USP53_ENST00000450251.1_Silent_p.Q462Q	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTTCTTCACAAAGGAAAGATT	0.318																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(1384-1386)caA>caG		ubiquitin specific peptidase 53							99.0	101.0	100.0					4																	120190943		1801	4059	5860	SO:0001819	synonymous_variant	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120190943A>G	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1386A>G	4.37:g.120190943A>G						USP53_ENST00000274030.6_Silent_p.Q462Q	p.Q462Q			Q70EK8	UBP53_HUMAN			11	1930	+			462						Silent	SNP	ENST00000274030.6	37	c.1386A>G	CCDS43265.1																																																																																				0.318	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		9	163	0	0	0	0.047766	0	9	163				
RHOQ	23433	broad.mit.edu	37	2	46803235	46803235	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:46803235G>A	ENST00000238738.4	+	3	530	c.211G>A	c.(211-213)Gac>Aac	p.D71N	RHOQ_ENST00000465198.1_3'UTR|RP11-417F21.1_ENST00000506009.2_RNA	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	71					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|GTP catabolic process (GO:0006184)|insulin receptor signaling pathway (GO:0008286)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GBD domain binding (GO:0032427)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|profilin binding (GO:0005522)			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGAAGACTATGACCGTCTGAG	0.373																																						ENST00000238738.4																			0				skin(2)	2						c.(211-213)Gac>Aac		ras homolog family member Q							90.0	81.0	84.0					2																	46803235		2203	4300	6503	SO:0001583	missense	23433				cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding	g.chr2:46803235G>A	M31470	CCDS33191.1	2p21	2012-02-27	2012-02-27	2004-03-24	ENSG00000119729	ENSG00000119729			17736	protein-coding gene	gene with protein product		605857	"""RAS-like, family 7, member A"", ""ras homolog gene family, member Q"""	RASL7A, ARHQ		2108320	Standard	NM_012249		Approved	TC10	uc002rva.3	P17081	OTTHUMG00000150653	ENST00000238738.4:c.211G>A	2.37:g.46803235G>A	ENSP00000238738:p.Asp71Asn					RP11-417F21.1_ENST00000506009.2_RNA|RHOQ_ENST00000465198.1_3'UTR	p.D71N	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		3	530	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	71					D6W5A6|Q0VGN1|Q52LS8|Q53SJ1|Q6NS39|Q6P146|Q7Z480	Missense_Mutation	SNP	ENST00000238738.4	37	c.211G>A	CCDS33191.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048353	0.55110	.	.	ENSG00000119729	ENST00000238738	T	0.77229	-1.08	5.43	5.43	0.79202	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.80325	0.4602	M	0.78049	2.395	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.77225	-0.2666	10	0.87932	D	0	.	19.4202	0.94719	0.0:0.0:1.0:0.0	.	71	P17081	RHOQ_HUMAN	N	71	ENSP00000238738:D71N	ENSP00000238738:D71N	D	+	1	0	RHOQ	46656739	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.398000	0.73244	2.825000	0.97269	0.655000	0.94253	GAC		0.373	RHOQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319409.1	NM_012249		11	113	0	0	0	0.069234	0	11	113				
ACTG2	72	broad.mit.edu	37	2	74129609	74129609	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:74129609G>A	ENST00000409624.1	+	4	892	c.249G>A	c.(247-249)atG>atA	p.M83I	ACTG2_ENST00000409918.1_Missense_Mutation_p.M83I|ACTG2_ENST00000345517.3_Missense_Mutation_p.M83I|ACTG2_ENST00000409731.3_Intron			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	83					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						GGGATGACATGGAGAAGGTAT	0.488																																						ENST00000409624.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(247-249)atG>atA		actin, gamma 2, smooth muscle, enteric							123.0	101.0	108.0					2																	74129609		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74129609G>A		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.249G>A	2.37:g.74129609G>A	ENSP00000386857:p.Met83Ile					ACTG2_ENST00000409731.3_Intron|ACTG2_ENST00000345517.3_Missense_Mutation_p.M83I|ACTG2_ENST00000409918.1_Missense_Mutation_p.M83I	p.M83I			P63267	ACTH_HUMAN			4	892	+			83					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.249G>A	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333730	0.60853	.	.	ENSG00000163017	ENST00000345517;ENST00000409918;ENST00000442912;ENST00000409624	D;D;D;D	0.97352	-4.35;-3.47;-3.47;-4.35	3.84	3.84	0.44239	.	0.044711	0.85682	N	0.000000	D	0.97589	0.9210	M	0.90650	3.135	0.49130	D	0.999751	P;B	0.40066	0.701;0.007	P;B	0.45276	0.475;0.085	D	0.99482	1.0948	10	0.87932	D	0	.	15.0246	0.71659	0.0:0.0:1.0:0.0	.	83;83	B8ZZJ2;P63267	.;ACTH_HUMAN	I	83	ENSP00000295137:M83I;ENSP00000387182:M83I;ENSP00000410020:M83I;ENSP00000386857:M83I	ENSP00000295137:M83I	M	+	3	0	ACTG2	73983117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.569000	0.98170	2.147000	0.66899	0.563000	0.77884	ATG		0.488	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		11	61	0	0	0	0.069234	0	11	61				
ERN1	2081	broad.mit.edu	37	17	62144284	62144284	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:62144284G>C	ENST00000433197.3	-	8	684	c.589C>G	c.(589-591)Cac>Gac	p.H197D	ERN1_ENST00000577567.1_5'Flank	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						GACACAAAGTGGGACATCTCT	0.502																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(589-591)Cac>Gac		endoplasmic reticulum to nucleus signaling 1							63.0	63.0	63.0					17																	62144284		2154	4263	6417	SO:0001583	missense	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.chr17:62144284G>C	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.589C>G	17.37:g.62144284G>C	ENSP00000401445:p.His197Asp						p.H197D	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			8	684	-			197						Missense_Mutation	SNP	ENST00000433197.3	37	c.589C>G	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508032	0.85282	.	.	ENSG00000178607	ENST00000433197	T	0.29142	1.58	5.57	5.57	0.84162	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.86097	2.795	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.67511	-0.5652	10	0.87932	D	0	-31.8848	19.5469	0.95302	0.0:0.0:1.0:0.0	.	197	O75460	ERN1_HUMAN	D	197	ENSP00000401445:H197D	ENSP00000401445:H197D	H	-	1	0	ERN1	59498016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.338000	0.96553	2.619000	0.88677	0.561000	0.74099	CAC		0.502	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		3	39	0	0	0	0.009096	0	3	39				
ADARB2	105	broad.mit.edu	37	10	1405308	1405308	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:1405308G>A	ENST00000381312.1	-	3	1317	c.992C>T	c.(991-993)gCc>gTc	p.A331V	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	331	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGCCTGCGCGGCCTGACCCCG	0.751																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(991-993)gCc>gTc		adenosine deaminase, RNA-specific, B2 (non-functional)							6.0	7.0	7.0					10																	1405308		2094	4138	6232	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405308G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.992C>T	10.37:g.1405308G>A	ENSP00000370713:p.Ala331Val						p.A331V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	1317	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	331			DRBM 2.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.992C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744789	0.89663	.	.	ENSG00000185736	ENST00000381312	D	0.92495	-3.05	5.1	5.1	0.69264	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.050013	0.85682	D	0.000000	D	0.96346	0.8808	M	0.84585	2.705	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	D	0.96586	0.9434	10	0.56958	D	0.05	-26.3981	18.5386	0.91019	0.0:0.0:1.0:0.0	.	331	Q9NS39	RED2_HUMAN	V	331	ENSP00000370713:A331V	ENSP00000370713:A331V	A	-	2	0	ADARB2	1395308	1.000000	0.71417	0.939000	0.37840	0.615000	0.37417	9.691000	0.98679	2.357000	0.79964	0.561000	0.74099	GCC		0.751	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		3	21	0	0	0	0.009096	0	3	21				
KIFC1	3833	broad.mit.edu	37	6	33371721	33371721	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:33371721C>T	ENST00000428849.2	+	6	1021	c.571C>T	c.(571-573)Cat>Tat	p.H191Y		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	191					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						ACTGGAGGGGCATTTAGCCAA	0.597																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(571-573)Cat>Tat		kinesin family member C1							116.0	116.0	116.0					6																	33371721		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33371721C>T	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.571C>T	6.37:g.33371721C>T	ENSP00000393963:p.His191Tyr						p.H191Y	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			6	1021	+			191					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.571C>T	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	C	7.702	0.693400	0.15039	.	.	ENSG00000237649	ENST00000428849	T	0.77877	-1.13	5.17	4.3	0.51218	.	0.219015	0.45606	D	0.000345	T	0.42787	0.1218	N	0.08118	0	0.21527	N	0.999654	B;B	0.12013	0.005;0.0	B;B	0.04013	0.001;0.001	T	0.46679	-0.9174	10	0.72032	D	0.01	-2.2334	13.3417	0.60549	0.0:0.1679:0.8321:0.0	.	183;191	B4E063;Q9BW19	.;KIFC1_HUMAN	Y	191	ENSP00000393963:H191Y	ENSP00000393963:H191Y	H	+	1	0	KIFC1	33479699	1.000000	0.71417	0.533000	0.28001	0.008000	0.06430	2.192000	0.42649	1.409000	0.46915	-0.344000	0.07964	CAT		0.597	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		43	170	0	0	0	0.042209	0	43	170				
LIFR	3977	broad.mit.edu	37	5	38510706	38510706	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:38510706T>C	ENST00000263409.4	-	7	1013	c.851A>G	c.(850-852)cAt>cGt	p.H284R	LIFR_ENST00000453190.2_Missense_Mutation_p.H284R|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	284					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCAGTTTGTATGGCCAATCAG	0.368			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(850-852)cAt>cGt		leukemia inhibitory factor receptor alpha							110.0	97.0	101.0					5																	38510706		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38510706T>C	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.851A>G	5.37:g.38510706T>C	ENSP00000263409:p.His284Arg					LIFR_ENST00000453190.2_Missense_Mutation_p.H284R|LIFR_ENST00000503088.1_5'UTR	p.H284R	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			7	1013	-	all_lung(31;0.00021)		284					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.851A>G	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	T	0.607	-0.826457	0.02734	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.62232	0.04;0.04	5.65	-10.1	0.00402	.	3.986490	0.00166	N	0.000006	T	0.34106	0.0886	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34875	-0.9811	10	0.22109	T	0.4	13.2353	16.4908	0.84200	0.1036:0.7649:0.0:0.1315	.	284	P42702	LIFR_HUMAN	R	284	ENSP00000263409:H284R;ENSP00000398368:H284R	ENSP00000263409:H284R	H	-	2	0	LIFR	38546463	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.482000	0.06544	-2.282000	0.00673	-0.242000	0.12053	CAT		0.368	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		6	117	0	0	0	0.029380	0	6	117				
ZNF772	400720	broad.mit.edu	37	19	57985605	57985605	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:57985605C>T	ENST00000343280.4	-	5	767	c.507G>A	c.(505-507)caG>caA	p.Q169Q	ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000427512.2_Silent_p.Q57Q|ZNF772_ENST00000356584.3_Silent_p.Q128Q|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000596831.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TGTATGGTTTCTGCCCTGGGT	0.507																																					Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(505-507)caG>caA		zinc finger protein 772							117.0	106.0	110.0					19																	57985605		2203	4300	6503	SO:0001819	synonymous_variant	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57985605C>T	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.507G>A	19.37:g.57985605C>T						ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Silent_p.Q128Q|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Silent_p.Q57Q	p.Q169Q	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	5	767	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	169					A6NJK9|B4DH56|B4DYS0	Silent	SNP	ENST00000343280.4	37	c.507G>A	CCDS33133.1																																																																																				0.507	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		12	176	0	0	0	0.016723	0	12	176				
CCDC172	374355	broad.mit.edu	37	10	118100359	118100359	+	Silent	SNP	C	C	A	rs377376030		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:118100359C>A	ENST00000333254.3	+	4	530	c.279C>A	c.(277-279)acC>acA	p.T93T	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	93																	TTCTTCAAACCTTTGTAAGTT	0.284																																						ENST00000333254.3																			0											c.(277-279)acC>acA		coiled-coil domain containing 172							55.0	58.0	57.0					10																	118100359		2203	4288	6491	SO:0001819	synonymous_variant	374355							g.chr10:118100359C>A	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.279C>A	10.37:g.118100359C>A						CCDC172_ENST00000497093.1_3'UTR	p.T93T	NM_198515.2	NP_940917.1					4	530	+									Silent	SNP	ENST00000333254.3	37	c.279C>A	CCDS31291.1																																																																																				0.284	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		11	118	1	0	0.00010058	0.013537	0.000114185	11	118				
RASGRP3	25780	broad.mit.edu	37	2	33784037	33784037	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:33784037C>T	ENST00000403687.3	+	17	2744	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D	RASGRP3_ENST00000407811.1_Silent_p.D667D|RASGRP3_ENST00000402538.3_Silent_p.D668D|AC020594.5_ENST00000437680.1_RNA	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	668					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATGTTGTAGACCGGGGCACGG	0.483																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(2002-2004)gaC>gaT		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							39.0	42.0	41.0					2																	33784037		2054	4191	6245	SO:0001819	synonymous_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33784037C>T	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.2004C>T	2.37:g.33784037C>T						AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Silent_p.D668D|RASGRP3_ENST00000407811.1_Silent_p.D667D	p.D668D	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			17	2744	+	all_hematologic(175;0.115)		668					D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	c.2004C>T	CCDS46256.1																																																																																				0.483	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		9	36	0	0	0	0.058154	0	9	36				
OR52E2	119678	broad.mit.edu	37	11	5080058	5080058	+	Missense_Mutation	SNP	C	C	T	rs267602936		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:5080058C>T	ENST00000321522.2	-	1	799	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGGCACATTTCGGCCAAAGCG	0.478																																						ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(799-801)cGa>cAa		olfactory receptor, family 52, subfamily E, member 2							86.0	88.0	87.0					11																	5080058		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080058C>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.800G>A	11.37:g.5080058C>T	ENSP00000322088:p.Arg267Gln						p.R267Q	NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	799	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	267						Missense_Mutation	SNP	ENST00000321522.2	37	c.800G>A	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	C	1.838	-0.468161	0.04476	.	.	ENSG00000176787	ENST00000321522	T	0.37058	1.22	3.76	-3.72	0.04411	GPCR, rhodopsin-like superfamily (1);	0.632123	0.13963	N	0.350677	T	0.16938	0.0407	N	0.11927	0.2	0.09310	N	1	B	0.09022	0.002	B	0.16289	0.015	T	0.13764	-1.0497	10	0.37606	T	0.19	.	8.5437	0.33408	0.0:0.5892:0.1116:0.2992	.	267	Q8NGJ4	O52E2_HUMAN	Q	267	ENSP00000322088:R267Q	ENSP00000322088:R267Q	R	-	2	0	OR52E2	5036634	0.000000	0.05858	0.001000	0.08648	0.320000	0.28249	-1.005000	0.03674	-0.804000	0.04410	-0.922000	0.02736	CGA		0.478	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		4	101	0	0	0	0.029380	0	4	101				
ZNF708	7562	broad.mit.edu	37	19	21476689	21476689	+	Missense_Mutation	SNP	T	T	C	rs538144502	byFrequency	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:21476689T>C	ENST00000356929.3	-	4	1276	c.1079A>G	c.(1078-1080)gAa>gGa	p.E360G		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GGGTTTCTCTTCAGTATGAAT	0.363													T|||	4	0.000798722	0.0	0.0029	5008	,	,		20368	0.001		0.001	False		,,,				2504	0.0					ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(1078-1080)gAa>gGa		zinc finger protein 708							51.0	54.0	53.0					19																	21476689		2199	4296	6495	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476689T>C	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1079A>G	19.37:g.21476689T>C	ENSP00000349401:p.Glu360Gly						p.E360G	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			4	1276	-			360					Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.1079A>G	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.175879	0.00312	.	.	ENSG00000182141	ENST00000356929	T	0.11821	2.74	0.428	-0.855	0.10700	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02929	0.0087	N	0.00630	-1.315	0.25198	N	0.990078	B	0.09022	0.002	B	0.04013	0.001	T	0.40270	-0.9572	9	0.02654	T	1	.	8.3509	0.32301	0.0:0.7791:0.0:0.2209	.	360	P17019	ZN708_HUMAN	G	360	ENSP00000349401:E360G	ENSP00000349401:E360G	E	-	2	0	ZNF708	21268529	0.000000	0.05858	0.034000	0.17996	0.027000	0.11550	0.367000	0.20382	-1.351000	0.02197	-1.371000	0.01190	GAA		0.363	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		5	139	0	0	0	0.021553	0	5	139				
CAMTA1	23261	broad.mit.edu	37	1	7805922	7805922	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:7805922C>G	ENST00000303635.7	+	18	4595	c.4388C>G	c.(4387-4389)cCt>cGt	p.P1463R	CAMTA1_ENST00000476864.1_Missense_Mutation_p.P27R|CAMTA1_ENST00000439411.2_Intron	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1463					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TATAACGAGCCTCTAACCCCT	0.458			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(4387-4389)cCt>cGt		calmodulin binding transcription activator 1							117.0	128.0	124.0					1																	7805922		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7805922C>G	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4388C>G	1.37:g.7805922C>G	ENSP00000306522:p.Pro1463Arg					CAMTA1_ENST00000439411.2_Intron|CAMTA1_ENST00000476864.1_Missense_Mutation_p.P27R	p.P1463R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	18	4595	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1463					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.4388C>G	CCDS30576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.762536|4.762536	0.89932|0.89932	.|.	.|.	ENSG00000171735|ENSG00000171735	ENST00000495233|ENST00000303635;ENST00000414738;ENST00000303646;ENST00000476864	.|T;T	.|0.52754	.|1.99;0.65	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62122|0.62122	0.2402|0.2402	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.57899	.|0.981;0.031;0.156	.|P;B;B	.|0.55161	.|0.77;0.033;0.069	T|T	0.56056|0.56056	-0.8042|-0.8042	5|10	.|0.27082	.|T	.|0.32	-8.8378|-8.8378	19.8881|19.8881	0.96917|0.96917	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|526;419;1463	.|B4DXR3;Q7Z7P1;Q9Y6Y1	.|.;.;CMTA1_HUMAN	V|R	420|1463;526;419;27	.|ENSP00000306522:P1463R;ENSP00000452319:P27R	.|ENSP00000306522:P1463R	L|P	+|+	1|2	0|0	CAMTA1|CAMTA1	7728509|7728509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.371000|7.371000	0.79600|0.79600	2.688000|2.688000	0.91661|0.91661	0.563000|0.563000	0.77884|0.77884	CTC|CCT		0.458	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		40	247	0	0	0	0.092188	0	40	247				
CDRT1	374286	broad.mit.edu	37	17	15522822	15522822	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:15522822T>C	ENST00000395906.3	-	1	4	c.5A>G	c.(4-6)gAa>gGa	p.E2G	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	2										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TTCCAGGTTTTCCATGATCCT	0.498																																						ENST00000395906.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(4-6)gAa>gGa		CMT1A duplicated region transcript 1							253.0	275.0	267.0					17																	15522822		2203	4300	6503	SO:0001583	missense	374286							g.chr17:15522822T>C	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.5A>G	17.37:g.15522822T>C	ENSP00000379242:p.Glu2Gly					RP11-385D13.1_ENST00000455584.2_Intron	p.E2G	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)	1	4	-			2					O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	c.5A>G	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.024082	0.54683	.	.	ENSG00000251537	ENST00000261644;ENST00000395906	T	0.27890	1.64	5.01	3.91	0.45181	.	.	.	.	.	T	0.27967	0.0689	L	0.59436	1.845	0.80722	D	1	B	0.24043	0.096	B	0.21708	0.036	T	0.11251	-1.0595	9	0.87932	D	0	.	6.1209	0.20151	0.0:0.0841:0.1652:0.7507	.	2	O95170	CDRT1_HUMAN	G	2	ENSP00000379242:E2G	ENSP00000261644:E2G	E	-	2	0	RP11-385D13.1	15463547	0.777000	0.28628	0.995000	0.50966	0.702000	0.40608	0.340000	0.19892	0.838000	0.34948	0.454000	0.30748	GAA		0.498	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		10	486	0	0	0	0.080935	0	10	486				
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs200109937		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161				TPTE2P6_ENST00000440905.1_RNA																							TGAAAGTGCAGTTTTTCTCTT	0.363																																						ENST00000453498.1																			0																																																			374491							g.chr13:25168489G>A																													13.37:g.25168489G>A														0	1161	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.363	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	50	0	0	0	0.004672	0	3	50				
NARS2	79731	broad.mit.edu	37	11	78176976	78176976	+	Silent	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:78176976T>C	ENST00000281038.5	-	11	1485	c.1110A>G	c.(1108-1110)ccA>ccG	p.P370P	NARS2_ENST00000528850.1_Silent_p.P143P	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	370					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TGAGTGTTAATGGATAATTAA	0.428																																						ENST00000281038.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27						c.(1108-1110)ccA>ccG		asparaginyl-tRNA synthetase 2, mitochondrial (putative)	L-Asparagine(DB00174)						142.0	135.0	137.0					11																	78176976		2200	4292	6492	SO:0001819	synonymous_variant	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78176976T>C	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1110A>G	11.37:g.78176976T>C						NARS2_ENST00000528850.1_Silent_p.P143P	p.P370P	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN			11	1485	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		370					G3V178	Silent	SNP	ENST00000281038.5	37	c.1110A>G	CCDS8261.1																																																																																				0.428	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		10	120	0	0	0	0.069234	0	10	120				
DST	667	broad.mit.edu	37	6	56480608	56480608	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:56480608T>C	ENST00000370765.6	-	24	7764	c.7657A>G	c.(7657-7659)Atc>Gtc	p.I2553V	DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1849					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAACATCGGATTCCCATTTCC	0.403																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(7657-7659)Atc>Gtc		dystonin							122.0	120.0	121.0					6																	56480608		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56480608T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7657A>G	6.37:g.56480608T>C	ENSP00000359801:p.Ile2553Val					DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron	p.I2553V	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		24	7764	-	Lung NSC(77;0.103)		1849					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.7657A>G	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	T	7.805	0.714566	0.15306	.	.	ENSG00000151914	ENST00000370765	T	0.73681	-0.77	5.83	1.91	0.25777	.	.	.	.	.	T	0.40694	0.1127	.	.	.	0.09310	N	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.15752	-1.0426	7	0.66056	D	0.02	.	2.7868	0.05376	0.2437:0.0677:0.1286:0.5601	.	2553	Q03001-3	.	V	2553	ENSP00000359801:I2553V	ENSP00000359801:I2553V	I	-	1	0	DST	56588567	0.000000	0.05858	0.912000	0.35992	0.968000	0.65278	-0.028000	0.12350	0.466000	0.27193	-0.472000	0.04984	ATC		0.403	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		35	194	0	0	0	0.069456	0	35	194				
ZNF33A	7581	broad.mit.edu	37	10	38344239	38344239	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:38344239A>T	ENST00000458705.2	+	5	1342	c.1184A>T	c.(1183-1185)cAt>cTt	p.H395L	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.H395L|ZNF33A_ENST00000374618.3_Missense_Mutation_p.H396L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H402L			Q06730	ZN33A_HUMAN	zinc finger protein 33A	395					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						GCCTTTAGCCATAAGTCAGCC	0.423																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(1186-1188)cAt>cTt		zinc finger protein 33A							83.0	86.0	85.0					10																	38344239		2203	4297	6500	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344239A>T	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.1184A>T	10.37:g.38344239A>T	ENSP00000387713:p.His395Leu					ZNF33A_ENST00000307441.9_Missense_Mutation_p.H395L|ZNF33A_ENST00000458705.2_Missense_Mutation_p.H395L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H402L|ZNF33A_ENST00000469037.2_Intron	p.H396L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	1365	+			395					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.1187A>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	8.968	0.972279	0.18736	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	2.34	1.2	0.21068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37906	N	0.001899	T	0.15565	0.0375	N	0.25332	0.735	0.09310	N	0.999996	P;P;B	0.50617	0.794;0.937;0.148	B;P;B	0.53006	0.31;0.715;0.03	T	0.13308	-1.0514	10	0.12103	T	0.63	.	3.5911	0.07989	0.6401:0.0:0.3599:0.0	.	402;395;396	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	L	396;402;395;395	ENSP00000363747:H396L;ENSP00000402467:H402L;ENSP00000387713:H395L;ENSP00000304268:H395L	ENSP00000304268:H395L	H	+	2	0	ZNF33A	38384245	0.000000	0.05858	0.998000	0.56505	0.972000	0.66771	-0.095000	0.11077	1.053000	0.40415	0.377000	0.23210	CAT		0.423	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		11	138	0	0	0	0.080935	0	11	138				
MS4A6A	64231	broad.mit.edu	37	11	59943062	59943062	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:59943062C>T	ENST00000530839.1	-	6	854	c.362G>A	c.(361-363)aGc>aAc	p.S121N	MS4A6A_ENST00000412309.2_Missense_Mutation_p.S149N|MS4A6A_ENST00000533023.1_Missense_Mutation_p.S57N|MS4A6A_ENST00000529054.1_Missense_Mutation_p.S149N|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000426738.2_Missense_Mutation_p.S76N|MS4A6A_ENST00000528851.1_Missense_Mutation_p.S121N|MS4A6A_ENST00000420732.2_Missense_Mutation_p.S121N|MS4A6A_ENST00000323961.3_Missense_Mutation_p.S121N	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	121						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTCAGAATGCTTCCAACCAG	0.438																																						ENST00000528851.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(361-363)aGc>aAc		membrane-spanning 4-domains, subfamily A, member 6A							109.0	97.0	101.0					11																	59943062		2201	4295	6496	SO:0001583	missense	64231					integral to membrane	receptor activity	g.chr11:59943062C>T	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.362G>A	11.37:g.59943062C>T	ENSP00000436979:p.Ser121Asn					MS4A6A_ENST00000420732.2_Missense_Mutation_p.S121N|MS4A6A_ENST00000529054.1_Missense_Mutation_p.S149N|MS4A6A_ENST00000426738.2_Missense_Mutation_p.S76N|MS4A6A_ENST00000530839.1_Missense_Mutation_p.S121N|MS4A6A_ENST00000533023.1_Missense_Mutation_p.S57N|MS4A6A_ENST00000323961.3_Missense_Mutation_p.S121N|MS4A6A_ENST00000412309.2_Missense_Mutation_p.S149N	p.S121N			Q9H2W1	M4A6A_HUMAN			5	502	-			121					A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.362G>A	CCDS7981.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.133|1.133	-0.651905|-0.651905	0.03506|0.03506	.|.	.|.	ENSG00000110077|ENSG00000110077	ENST00000533989|ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309;ENST00000533023	.|T;T;T;T;T;T;T;T	.|0.22743	.|4.72;4.72;4.72;4.72;4.72;4.72;4.72;1.94	4.99|4.99	0.377|0.377	0.16198|0.16198	.|.	.|0.272355	.|0.37261	.|N	.|0.002176	T|T	0.03827|0.03827	0.0108|0.0108	N|N	0.00419|0.00419	-1.52|-1.52	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.28667	.|0.007;0.035;0.219;0.122;0.001	.|B;B;B;B;B	.|0.30251	.|0.037;0.017;0.113;0.079;0.004	T|T	0.44065|0.44065	-0.9352|-0.9352	5|10	.|0.02654	.|T	.|1	.|.	6.9863|6.9863	0.24731|0.24731	0.0:0.3794:0.0:0.6206|0.0:0.3794:0.0:0.6206	.|.	.|76;149;149;121;121	.|E7EMT7;F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3	.|.;.;.;M4A6A_HUMAN;.	T|N	56|121;121;121;121;149;76;149;57	.|ENSP00000315878:S121N;ENSP00000431901:S121N;ENSP00000392921:S121N;ENSP00000436979:S121N;ENSP00000435844:S149N;ENSP00000392770:S76N;ENSP00000403212:S149N;ENSP00000436172:S57N	.|ENSP00000315878:S121N	A|S	-|-	1|2	0|0	MS4A6A|MS4A6A	59699638|59699638	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.319000|0.319000	0.28217|0.28217	-0.060000|-0.060000	0.11712|0.11712	-0.014000|-0.014000	0.14175|0.14175	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.438	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			35	84	0	0	0	0.074837	0	35	84				
RHBDF1	64285	broad.mit.edu	37	16	110495	110495	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:110495C>T	ENST00000262316.6	-	12	1742	c.1600G>A	c.(1600-1602)Gcc>Acc	p.A534T		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	534					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCTCTGGGGCGCTGGGATGG	0.632																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(1600-1602)Gcc>Acc		rhomboid 5 homolog 1 (Drosophila)							69.0	67.0	67.0					16																	110495		2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:110495C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1600G>A	16.37:g.110495C>T	ENSP00000262316:p.Ala534Thr						p.A534T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			12	1742	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	534					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.1600G>A	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	9.796	1.179158	0.21787	.	.	ENSG00000007384	ENST00000262316	T	0.42513	0.97	5.38	2.0	0.26442	.	0.240946	0.42053	N	0.000773	T	0.20577	0.0495	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.04373	-1.0956	10	0.26408	T	0.33	-19.7611	5.3093	0.15821	0.0:0.4559:0.0:0.5441	.	534	Q96CC6	RHDF1_HUMAN	T	534	ENSP00000262316:A534T	ENSP00000262316:A534T	A	-	1	0	RHBDF1	50495	0.998000	0.40836	0.813000	0.32504	0.741000	0.42261	1.378000	0.34328	0.652000	0.30806	0.655000	0.94253	GCC		0.632	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		11	113	0	0	0	0.016723	0	11	113				
ENOX1	55068	broad.mit.edu	37	13	43918857	43918857	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:43918857C>T	ENST00000261488.6	-	9	1430	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	ENOX1_ENST00000540032.1_Missense_Mutation_p.V98M|ENOX1_ENST00000412891.1_Missense_Mutation_p.V285M	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	285					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GAAAGCAGCACTGTGATAGCC	0.468																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(853-855)Gtg>Atg		ecto-NOX disulfide-thiol exchanger 1							106.0	97.0	100.0					13																	43918857		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43918857C>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.853G>A	13.37:g.43918857C>T	ENSP00000261488:p.Val285Met					ENOX1_ENST00000412891.1_Missense_Mutation_p.V285M|ENOX1_ENST00000540032.1_Missense_Mutation_p.V98M	p.V285M	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	9	1430	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	285					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.853G>A	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388701	0.82902	.	.	ENSG00000120658	ENST00000261488;ENST00000412891;ENST00000540032	T;T	0.50277	0.75;0.75	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	L	0.45581	1.43	0.58432	D	0.999999	D;D	0.71674	0.996;0.998	D;D	0.78314	0.961;0.991	T	0.60084	-0.7332	10	0.40728	T	0.16	0.1436	19.7405	0.96228	0.0:1.0:0.0:0.0	.	98;285	B7Z5K1;Q8TC92	.;ENOX1_HUMAN	M	285;285;98	ENSP00000261488:V285M;ENSP00000415054:V285M	ENSP00000261488:V285M	V	-	1	0	ENOX1	42816857	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	3.714000	0.54889	2.655000	0.90218	0.655000	0.94253	GTG		0.468	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		8	85	0	0	0	0.038147	0	8	85				
RCC1	1104	broad.mit.edu	37	1	28862414	28862414	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:28862414G>A	ENST00000373833.6	+	10	978	c.693G>A	c.(691-693)ctG>ctA	p.L231L	RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373831.3_Silent_p.L262L|RCC1_ENST00000398958.2_Silent_p.L231L|RCC1_ENST00000373832.1_Silent_p.L231L			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	231					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTGATGCTGAAATCCAGGG	0.562																																						ENST00000373833.6																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.(691-693)ctG>ctA		regulator of chromosome condensation 1							172.0	154.0	160.0					1																	28862414		2203	4300	6503	SO:0001819	synonymous_variant	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28862414G>A	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.693G>A	1.37:g.28862414G>A						RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373831.3_Silent_p.L262L|RCC1_ENST00000373832.1_Silent_p.L231L|RCC1_ENST00000398958.2_Silent_p.L231L	p.L231L			P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	10	978	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	231					Q16269|Q6NT97	Silent	SNP	ENST00000373833.6	37	c.693G>A	CCDS323.1																																																																																				0.562	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		24	261	0	0	0	0.034045	0	24	261				
GABRA6	2559	broad.mit.edu	37	5	161116008	161116008	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:161116008G>A	ENST00000274545.5	+	4	712	c.279G>A	c.(277-279)aaG>aaA	p.K93K	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Silent_p.K83K			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	93					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGAGGTTGAAGTTTGGGGGGC	0.408										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(247-249)aaG>aaA		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						85.0	86.0	86.0					5																	161116008		2203	4299	6502	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116008G>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.279G>A	5.37:g.161116008G>A		TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Silent_p.K93K|RP11-348M17.2_ENST00000521984.1_RNA	p.K83K	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	491	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	93					A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.249G>A	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	8.649	0.897793	0.17686	.	.	ENSG00000145863	ENST00000520000	.	.	.	5.65	1.79	0.24919	.	.	.	.	.	T	0.52789	0.1756	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38779	-0.9645	4	.	.	.	.	5.4198	0.16394	0.3307:0.0:0.5454:0.1239	.	.	.	.	N	33	.	.	S	+	2	0	GABRA6	161048586	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.173000	0.31920	0.105000	0.17753	0.655000	0.94253	AGT		0.408	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			15	190	0	0	0	0.038395	0	15	190				
SLAMF8	56833	broad.mit.edu	37	1	159802746	159802746	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:159802746T>A	ENST00000289707.5	+	3	597	c.448T>A	c.(448-450)Ttg>Atg	p.L150M	SLAMF8_ENST00000368104.4_Missense_Mutation_p.L41M|C1orf204_ENST00000491974.1_5'Flank|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	150	Ig-like C2-type.				cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CCAGGTTTTCTTGTCCTGTTG	0.532																																						ENST00000289707.5																			0				endometrium(2)|large_intestine(4)|lung(6)	12						c.(448-450)Ttg>Atg		SLAM family member 8							95.0	98.0	97.0					1																	159802746		2203	4300	6503	SO:0001583	missense	56833					integral to membrane		g.chr1:159802746T>A	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.448T>A	1.37:g.159802746T>A	ENSP00000289707:p.Leu150Met					SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Missense_Mutation_p.L41M	p.L150M	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN			3	597	+	all_hematologic(112;0.0597)		150			Ig-like C2-type.		Q32MC6|Q5VU15	Missense_Mutation	SNP	ENST00000289707.5	37	c.448T>A	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.329925	0.60743	.	.	ENSG00000158714	ENST00000289707;ENST00000368104	T;T	0.50548	2.87;0.74	4.87	1.64	0.23874	Immunoglobulin-like (1);	0.000000	0.64402	D	0.000004	T	0.51261	0.1664	M	0.79258	2.445	0.31541	N	0.659975	D	0.89917	1.0	D	0.91635	0.999	T	0.52087	-0.8622	10	0.72032	D	0.01	-11.4185	7.349	0.26680	0.0:0.7308:0.0:0.2692	.	150	Q9P0V8	SLAF8_HUMAN	M	150;41	ENSP00000289707:L150M;ENSP00000357084:L41M	ENSP00000289707:L150M	L	+	1	2	SLAMF8	158069370	1.000000	0.71417	0.995000	0.50966	0.873000	0.50193	1.471000	0.35365	0.116000	0.18110	0.528000	0.53228	TTG		0.532	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125		15	148	0	0	0	0.024245	0	15	148				
RASGRF1	5923	broad.mit.edu	37	15	79254558	79254558	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:79254558G>T	ENST00000419573.3	-	28	4024	c.3750C>A	c.(3748-3750)gaC>gaA	p.D1250E	RASGRF1_ENST00000558480.2_Missense_Mutation_p.D1234E|RASGRF1_ENST00000394745.3_Missense_Mutation_p.D466E	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1250	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAAAAGATTGGTCCAGTAAAT	0.463																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3748-3750)gaC>gaA		Ras protein-specific guanine nucleotide-releasing factor 1							65.0	62.0	63.0					15																	79254558		2196	4292	6488	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79254558G>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3750C>A	15.37:g.79254558G>T	ENSP00000405963:p.Asp1250Glu					RASGRF1_ENST00000558480.2_Missense_Mutation_p.D1234E|RASGRF1_ENST00000394745.3_Missense_Mutation_p.D466E	p.D1250E	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			28	4024	-			1252			Ras-GEF.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.3750C>A	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320803	0.60634	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.29397	1.57;1.57	3.96	-0.517	0.11947	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.065229	0.64402	D	0.000015	T	0.27594	0.0678	L	0.46157	1.445	0.45150	D	0.998162	B;P	0.42620	0.01;0.785	B;P	0.45946	0.019;0.498	T	0.02560	-1.1141	10	0.51188	T	0.08	.	6.6424	0.22917	0.5177:0.0:0.4823:0.0	.	1252;1234	Q13972;F8VPA5	RGRF1_HUMAN;.	E	1250;1234;466	ENSP00000405963:D1250E;ENSP00000378228:D466E	ENSP00000378224:D1234E	D	-	3	2	RASGRF1	77041613	1.000000	0.71417	0.441000	0.26858	0.978000	0.69477	3.167000	0.50793	-0.380000	0.07894	0.491000	0.48974	GAC		0.463	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		5	21	1	0	1.06961e-07	0.038147	1.30238e-07	5	21				
COL1A2	1278	broad.mit.edu	37	7	94038715	94038715	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:94038715G>A	ENST00000297268.6	+	17	1345	c.874G>A	c.(874-876)Ggc>Agc	p.G292S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	292					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGGCCTCTCCGGCCCCGTTGG	0.498										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(874-876)Ggc>Agc		collagen, type I, alpha 2	Collagenase(DB00048)						70.0	79.0	76.0					7																	94038715		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038715G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.874G>A	7.37:g.94038715G>A	ENSP00000297268:p.Gly292Ser	HNSCC(75;0.22)					p.G292S	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		17	1345	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		292					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.874G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868889	0.91587	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99527	-6.09	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97903	1.0304	10	0.87932	D	0	.	20.2886	0.98538	0.0:0.0:1.0:0.0	.	292	P08123	CO1A2_HUMAN	S	292;293	ENSP00000297268:G292S	ENSP00000297268:G292S	G	+	1	0	COL1A2	93876651	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	GGC		0.498	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		7	103	0	0	0	0.020292	0	7	103				
INTS5	80789	broad.mit.edu	37	11	62415548	62415548	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:62415548G>A	ENST00000330574.2	-	2	2056	c.2004C>T	c.(2002-2004)gcC>gcT	p.A668A	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	668					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GACAGGCTGAGGCCACACCTG	0.612																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2002-2004)gcC>gcT		integrator complex subunit 5							46.0	46.0	46.0					11																	62415548		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415548G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2004C>T	11.37:g.62415548G>A							p.A668A	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	2056	-			668					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.2004C>T	CCDS8027.1																																																																																				0.612	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		4	71	0	0	0	0.009096	0	4	71				
PLEKHG1	57480	broad.mit.edu	37	6	151089868	151089868	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:151089868T>G	ENST00000358517.2	+	3	717	c.506T>G	c.(505-507)tTc>tGc	p.F169C	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.F169C			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	169	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATCTACCACTTCAATAGGTAA	0.393																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(505-507)tTc>tGc		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							90.0	85.0	87.0					6																	151089868		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151089868T>G	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.506T>G	6.37:g.151089868T>G	ENSP00000351318:p.Phe169Cys					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.F169C	p.F169C	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	4	818	+			169			DH.		Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.506T>G	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.190564	0.78789	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.66099	-0.19;-0.19	6.02	6.02	0.97574	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.79834	0.4514	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83703	0.0183	10	0.66056	D	0.02	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	169;169	Q5JYA6;Q9ULL1	.;PKHG1_HUMAN	C	169	ENSP00000356297:F169C;ENSP00000351318:F169C	ENSP00000351318:F169C	F	+	2	0	PLEKHG1	151131561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.347000	0.73004	2.311000	0.77944	0.533000	0.62120	TTC		0.393	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			7	46	0	0	0	0.029380	0	7	46				
SULT1E1	6783	broad.mit.edu	37	4	70713474	70713474	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:70713474C>G	ENST00000226444.3	-	6	645	c.533G>C	c.(532-534)tGg>tCg	p.W178S		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	178					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	CTTTTCCCACCAAGATTTTAC	0.373																																						ENST00000226444.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(532-534)tGg>tCg		sulfotransferase family 1E, estrogen-preferring, member 1							95.0	95.0	95.0					4																	70713474		2203	4299	6502	SO:0001583	missense	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70713474C>G	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.533G>C	4.37:g.70713474C>G	ENSP00000226444:p.Trp178Ser						p.W178S	NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN			6	645	-			178					Q8N6X5	Missense_Mutation	SNP	ENST00000226444.3	37	c.533G>C	CCDS3531.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094595	0.56075	.	.	ENSG00000109193	ENST00000226444	T	0.02787	4.16	4.21	3.34	0.38264	Sulfotransferase domain (1);	0.084158	0.52532	D	0.000065	T	0.20251	0.0487	H	0.94264	3.515	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.07578	-1.0765	10	0.87932	D	0	.	11.5396	0.50659	0.1801:0.8198:0.0:0.0	.	178	P49888	ST1E1_HUMAN	S	178	ENSP00000226444:W178S	ENSP00000226444:W178S	W	-	2	0	SULT1E1	70748063	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.153000	0.58118	1.310000	0.45006	0.650000	0.86243	TGG		0.373	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		50	129	0	0	0	0.048971	0	50	129				
TMIGD2	126259	broad.mit.edu	37	19	4292705	4292705	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:4292705C>A	ENST00000301272.2	-	5	785	c.740G>T	c.(739-741)tGc>tTc	p.C247F	TMIGD2_ENST00000595645.1_Missense_Mutation_p.C243F|TMIGD2_ENST00000600349.1_Missense_Mutation_p.C75F|TMIGD2_ENST00000600114.1_Missense_Mutation_p.C127F	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	247	Pro-rich.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		ggggctggggcagggtctcgg	0.672																																						ENST00000301272.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19						c.(739-741)tGc>tTc		transmembrane and immunoglobulin domain containing 2							32.0	40.0	37.0					19																	4292705		2197	4292	6489	SO:0001583	missense	126259					integral to membrane		g.chr19:4292705C>A	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.740G>T	19.37:g.4292705C>A	ENSP00000301272:p.Cys247Phe					TMIGD2_ENST00000595645.1_Missense_Mutation_p.C243F|TMIGD2_ENST00000600349.1_Missense_Mutation_p.C75F|TMIGD2_ENST00000600114.1_Missense_Mutation_p.C127F	p.C247F	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	5	785	-			247			Pro-rich.		Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	c.740G>T	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097423	0.37048	.	.	ENSG00000167664	ENST00000301272	T	0.32023	1.47	2.79	-1.3	0.09259	.	.	.	.	.	T	0.31575	0.0801	L	0.27053	0.805	0.09310	N	1	D;D	0.64830	0.994;0.989	P;P	0.59889	0.865;0.737	T	0.21449	-1.0245	9	0.87932	D	0	.	5.9852	0.19430	0.2037:0.3976:0.3986:0.0	.	243;247	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	F	247	ENSP00000301272:C247F	ENSP00000301272:C247F	C	-	2	0	TMIGD2	4243705	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.283000	0.08433	-0.248000	0.09583	0.555000	0.69702	TGC		0.672	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		7	88	1	0	0.00307968	0.038147	0.00336616	7	88				
WNK1	65125	broad.mit.edu	37	12	1009828	1009828	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:1009828C>A	ENST00000315939.6	+	26	7278	c.6635C>A	c.(6634-6636)cCa>cAa	p.P2212Q	WNK1_ENST00000340908.4_Missense_Mutation_p.P1805Q|WNK1_ENST00000530271.2_Missense_Mutation_p.P2710Q|WNK1_ENST00000537687.1_Missense_Mutation_p.P2472Q|WNK1_ENST00000535572.1_Missense_Mutation_p.P1964Q	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2212					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.P2212Q(1)|p.P2472Q(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTTCTGCTCCAGGTCAAGGT	0.473																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			2	Substitution - Missense(2)	p.P2212Q(1)|p.P2472Q(1)	lung(2)	breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(7414-7416)cCa>cAa		WNK lysine deficient protein kinase 1							207.0	193.0	197.0					12																	1009828		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:1009828C>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.6635C>A	12.37:g.1009828C>A	ENSP00000313059:p.Pro2212Gln					WNK1_ENST00000535572.1_Missense_Mutation_p.P1964Q|WNK1_ENST00000315939.6_Missense_Mutation_p.P2212Q|WNK1_ENST00000530271.2_Missense_Mutation_p.P2710Q|WNK1_ENST00000340908.4_Missense_Mutation_p.P1805Q	p.P2472Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		26	8058	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		2212					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.7415C>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791277	0.50102	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000537501;ENST00000340908;ENST00000543065	T;T;T;T;T	0.73258	-0.73;-0.69;-0.68;-0.73;0.46	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000017	T	0.47303	0.1438	N	0.03608	-0.345	0.34754	D	0.732084	P;B;B	0.40431	0.717;0.383;0.264	B;B;B	0.37198	0.243;0.095;0.044	T	0.63305	-0.6667	10	0.41790	T	0.15	-12.7775	13.7811	0.63084	0.1533:0.8467:0.0:0.0	.	1965;1964;2212	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	Q	1964;2212;2472;1385;2710;154;1805;22	ENSP00000441972:P1964Q;ENSP00000313059:P2212Q;ENSP00000444465:P2472Q;ENSP00000433548:P2710Q;ENSP00000341292:P1805Q	ENSP00000252477:P1385Q	P	+	2	0	WNK1	880089	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.348000	0.59379	2.688000	0.91661	0.563000	0.77884	CCA		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		7	530	1	0	0.000157383	0.038147	0.000177813	7	530				
UBAP2L	9898	broad.mit.edu	37	1	154199771	154199771	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:154199771A>C	ENST00000361546.2	+	2	146	c.104A>C	c.(103-105)cAa>cCa	p.Q35P	UBAP2L_ENST00000271877.7_Missense_Mutation_p.Q35P|UBAP2L_ENST00000343815.6_Missense_Mutation_p.Q35P|UBAP2L_ENST00000428931.1_Missense_Mutation_p.Q35P			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	35					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACTGCAGAACAAATTAGACTT	0.418																																						ENST00000428931.1																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(103-105)cAa>cCa		ubiquitin associated protein 2-like							168.0	156.0	160.0					1																	154199771		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154199771A>C	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.104A>C	1.37:g.154199771A>C	ENSP00000355343:p.Gln35Pro					UBAP2L_ENST00000271877.7_Missense_Mutation_p.Q35P|UBAP2L_ENST00000343815.6_Missense_Mutation_p.Q35P|UBAP2L_ENST00000361546.2_Missense_Mutation_p.Q35P	p.Q35P	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	271	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		35					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.104A>C	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228821	0.79576	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000441890;ENST00000271877;ENST00000412596;ENST00000368504;ENST00000437652;ENST00000456325;ENST00000361546	T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	4.75	4.75	0.60458	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.78916	2.43	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.994;0.99	D;D;D;D	0.91635	0.999;0.98;0.98;0.954	T	0.55341	-0.8156	10	0.87932	D	0	-3.4651	13.6255	0.62161	1.0:0.0:0.0:0.0	.	35;35;35;35	F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;UBP2L_HUMAN	P	35	ENSP00000345308:Q35P;ENSP00000389445:Q35P;ENSP00000399920:Q35P;ENSP00000271877:Q35P;ENSP00000389052:Q35P;ENSP00000357490:Q35P;ENSP00000389717:Q35P;ENSP00000415310:Q35P;ENSP00000355343:Q35P	ENSP00000271877:Q35P	Q	+	2	0	UBAP2L	152466395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.689000	0.91265	1.985000	0.57927	0.529000	0.55759	CAA		0.418	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		17	187	0	0	0	0.033300	0	17	187				
BST1	683	broad.mit.edu	37	4	15716972	15716972	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:15716972A>G	ENST00000265016.4	+	5	794	c.599A>G	c.(598-600)tAt>tGt	p.Y200C	BST1_ENST00000382346.3_Missense_Mutation_p.Y215C	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	200					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						ACAGGAGCCTATCCCATCAAA	0.368																																						ENST00000382346.3																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						c.(643-645)tAt>tGt		bone marrow stromal cell antigen 1							106.0	101.0	103.0					4																	15716972		2203	4300	6503	SO:0001583	missense	683				humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity	g.chr4:15716972A>G	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.599A>G	4.37:g.15716972A>G	ENSP00000265016:p.Tyr200Cys					BST1_ENST00000265016.4_Missense_Mutation_p.Y200C	p.Y215C			Q10588	BST1_HUMAN			6	693	+			200					B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Missense_Mutation	SNP	ENST00000265016.4	37	c.644A>G	CCDS3416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.59|19.59	3.856246|3.856246	0.71834|0.71834	.|.	.|.	ENSG00000109743|ENSG00000109743	ENST00000505785;ENST00000514989|ENST00000265016;ENST00000382346;ENST00000514445	.|T;T;T	.|0.21932	.|1.98;1.98;1.98	6.16|6.16	6.16|6.16	0.99307|0.99307	.|NAD(P)-binding domain (1);	.|0.167712	.|0.56097	.|D	.|0.000038	T|T	0.46946|0.46946	0.1419|0.1419	M|M	0.76328|0.76328	2.33|2.33	0.41709|0.41709	D|D	0.989447|0.989447	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.49153|0.49153	-0.8969|-0.8969	5|10	.|0.87932	.|D	.|0	-36.2931|-36.2931	13.1979|13.1979	0.59749|0.59749	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|215;200	.|A6NC48;Q10588	.|.;BST1_HUMAN	V|C	96;8|200;215;50	.|ENSP00000265016:Y200C;ENSP00000371783:Y215C;ENSP00000420925:Y50C	.|ENSP00000265016:Y200C	I|Y	+|+	1|2	0|0	BST1|BST1	15326070|15326070	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	4.934000|4.934000	0.63491|0.63491	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	ATC|TAT		0.368	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2	NM_004334		13	76	0	0	0	0.020292	0	13	76				
MAN2A1	4124	broad.mit.edu	37	5	109153015	109153015	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:109153015C>T	ENST00000261483.4	+	13	3037	c.1985C>T	c.(1984-1986)tCg>tTg	p.S662L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	662					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GACCGAATCTCGTTGGTCTCA	0.413																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1984-1986)tCg>tTg		mannosidase, alpha, class 2A, member 1							151.0	139.0	143.0					5																	109153015		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109153015C>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1985C>T	5.37:g.109153015C>T	ENSP00000261483:p.Ser662Leu						p.S662L	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	13	3037	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	662					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.1985C>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015035	0.75161	.	.	ENSG00000112893	ENST00000261483	T	0.79247	-1.25	5.42	5.42	0.78866	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.066247	0.64402	D	0.000006	D	0.84692	0.5528	M	0.84433	2.695	0.35170	D	0.771453	P	0.39480	0.675	P	0.46253	0.509	D	0.87182	0.2228	10	0.30078	T	0.28	-3.2359	19.1748	0.93600	0.0:1.0:0.0:0.0	.	662	Q16706	MA2A1_HUMAN	L	662	ENSP00000261483:S662L	ENSP00000261483:S662L	S	+	2	0	MAN2A1	109180914	0.406000	0.25344	0.007000	0.13788	0.302000	0.27658	5.828000	0.69307	2.695000	0.91970	0.650000	0.86243	TCG		0.413	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			15	183	0	0	0	0.028581	0	15	183				
PRR23A	729627	broad.mit.edu	37	3	138724783	138724783	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:138724783C>T	ENST00000383163.2	-	1	327	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	110										endometrium(3)|kidney(1)|lung(7)	11						CCTGAGCGTTCGTCGACAGAG	0.617																																						ENST00000383163.2																			0				endometrium(3)|kidney(1)|lung(7)	11						c.(328-330)Gaa>Aaa		proline rich 23A							33.0	32.0	32.0					3																	138724783		692	1591	2283	SO:0001583	missense	729627							g.chr3:138724783C>T		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.328G>A	3.37:g.138724783C>T	ENSP00000372649:p.Glu110Lys					MRPS22_ENST00000495075.1_5'UTR	p.E110K	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN			1	327	-			110						Missense_Mutation	SNP	ENST00000383163.2	37	c.328G>A	CCDS46923.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477857	0.44044	.	.	ENSG00000206260	ENST00000383163	.	.	.	2.48	-0.756	0.11057	.	2.101480	0.03501	U	0.218104	T	0.53400	0.1794	L	0.57536	1.79	0.09310	N	1	D	0.69078	0.997	P	0.59221	0.854	T	0.40156	-0.9578	9	0.54805	T	0.06	.	5.5478	0.17073	0.0:0.2689:0.566:0.1651	.	110	A6NEV1	PR23A_HUMAN	K	110	.	ENSP00000372649:E110K	E	-	1	0	PRR23A	140207473	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.635000	0.05471	-0.200000	0.10300	0.491000	0.48974	GAA		0.617	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		6	42	0	0	0	0.021553	0	6	42				
TRIOBP	11078	broad.mit.edu	37	22	38120563	38120563	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr22:38120563T>C	ENST00000406386.3	+	7	2255	c.2000T>C	c.(1999-2001)aTc>aCc	p.I667T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	667					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AACAGAACCATCCAACAAGAG	0.572																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1999-2001)aTc>aCc		TRIO and F-actin binding protein							175.0	192.0	186.0					22																	38120563		1971	4162	6133	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120563T>C	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2000T>C	22.37:g.38120563T>C	ENSP00000384312:p.Ile667Thr					RP1-37E16.12_ENST00000455236.1_RNA	p.I667T	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2255	+	Melanoma(58;0.0574)		667					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2000T>C	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	7.803	0.714142	0.15306	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.21543	2.0	4.87	2.77	0.32553	.	.	.	.	.	T	0.04770	0.0129	N	0.00538	-1.39	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.38023	-0.9680	9	0.02654	T	1	.	8.1641	0.31215	0.0:0.8087:0.0:0.1913	.	667	Q9H2D6	TARA_HUMAN	T	667	ENSP00000384312:I667T	ENSP00000384312:I667T	I	+	2	0	TRIOBP	36450509	0.005000	0.15991	0.009000	0.14445	0.013000	0.08279	-0.388000	0.07352	0.591000	0.29711	-0.407000	0.06327	ATC		0.572	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			3	96	0	0	0	0.004672	0	3	96				
BCL10	8915	broad.mit.edu	37	1	85733597	85733597	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:85733597C>T	ENST00000370580.1	-	3	1152	c.415G>A	c.(415-417)Gat>Aat	p.D139N		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	139					adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		TTACTCTCATCTGAATTTGAT	0.388			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	ENST00000370580.1				Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT		0				haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19						c.(415-417)Gat>Aat		B-cell CLL/lymphoma 10							95.0	93.0	94.0					1																	85733597		2203	4300	6503	SO:0001583	missense	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85733597C>T	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.415G>A	1.37:g.85733597C>T	ENSP00000359612:p.Asp139Asn						p.D139N	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	3	1152	-			139					Q5VUF1	Missense_Mutation	SNP	ENST00000370580.1	37	c.415G>A	CCDS704.1	.	.	.	.	.	.	.	.	.	.	C	6.632	0.485141	0.12641	.	.	ENSG00000142867	ENST00000370580;ENST00000271015;ENST00000394761	.	.	.	5.98	1.53	0.23141	.	0.636651	0.17642	N	0.167009	T	0.09555	0.0235	L	0.27053	0.805	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.37865	-0.9687	9	0.16420	T	0.52	-6.8629	8.6369	0.33953	0.1018:0.5921:0.0:0.3061	.	139	O95999	BCL10_HUMAN	N	139;139;128	.	ENSP00000271015:D139N	D	-	1	0	BCL10	85506185	0.013000	0.17824	0.984000	0.44739	0.925000	0.55904	0.072000	0.14617	0.151000	0.19162	-1.094000	0.02160	GAT		0.388	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		28	184	0	0	0	0.050027	0	28	184				
AES	166	broad.mit.edu	37	19	3055690	3055690	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:3055690G>C	ENST00000327141.4	-	5	625	c.269C>G	c.(268-270)gCc>gGc	p.A90G	AES_ENST00000586839.1_Missense_Mutation_p.A34G|AES_ENST00000592330.1_Intron|AC005944.2_ENST00000592758.1_RNA|AES_ENST00000221561.8_Missense_Mutation_p.A157G	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	90	Gln-rich (Q domain).				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(8)	8		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)		CAGGACCTGGGCACAAATCCC	0.637																																					Pancreas(11;265 407 11814 26840 35326)	ENST00000221561.8																			0				lung(8)	8						c.(469-471)gCc>gGc		amino-terminal enhancer of split							78.0	74.0	75.0					19																	3055690		2203	4300	6503	SO:0001583	missense	166				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3055690G>C	AK094591	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05							307	protein-coding gene	gene with protein product		600188				8365415	Standard	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	Q08117		ENST00000327141.4:c.269C>G	19.37:g.3055690G>C	ENSP00000317537:p.Ala90Gly					AES_ENST00000586839.1_Missense_Mutation_p.A34G|AES_ENST00000592330.1_Intron|AES_ENST00000327141.4_Missense_Mutation_p.A90G	p.A157G	NM_198969.1	NP_945320.1	Q08117	AES_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)	5	649	-		Hepatocellular(1079;0.137)	90			Gly/Pro-rich (GP domain).		B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Missense_Mutation	SNP	ENST00000327141.4	37	c.470C>G	CCDS12102.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954420	0.73902	.	.	ENSG00000104964	ENST00000221561;ENST00000327141	T;T	0.53206	0.63;0.68	4.09	4.09	0.47781	Groucho/TLE, N-terminal Q-rich domain (1);	0.269957	0.34959	U	0.003549	T	0.52677	0.1749	L	0.27053	0.805	0.53688	D	0.999977	D;B	0.67145	0.996;0.089	P;B	0.62649	0.905;0.142	T	0.57266	-0.7841	10	0.54805	T	0.06	.	14.8839	0.70553	0.0:0.0:1.0:0.0	.	157;90	Q14CJ1;Q08117	.;AES_HUMAN	G	157;90	ENSP00000221561:A157G;ENSP00000317537:A90G	ENSP00000221561:A157G	A	-	2	0	AES	3006690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.180000	0.94867	1.835000	0.53391	0.655000	0.94253	GCC		0.637	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1	NM_198969		9	114	0	0	0	0.013537	0	9	114				
GRN	2896	broad.mit.edu	37	17	42428419	42428419	+	Silent	SNP	C	C	T	rs200408271		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:42428419C>T	ENST00000053867.3	+	8	785	c.723C>T	c.(721-723)tcC>tcT	p.S241S	GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_3'UTR	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	241					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCTGCTGCTCCGATCACCTGC	0.607											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000053867.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(721-723)tcC>tcT		granulin		C		0,4406		0,0,2203	93.0	83.0	86.0		723	-1.1	1.0	17		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GRN	NM_002087.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		241/594	42428419	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42428419C>T	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.723C>T	17.37:g.42428419C>T			OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	908	GRN_ENST00000589923.1_3'UTR|GRN_ENST00000589265.1_Intron	p.S241S	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	8	785	+		Prostate(33;0.0181)	241					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Silent	SNP	ENST00000053867.3	37	c.723C>T	CCDS11483.1																																																																																				0.607	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		7	116	0	0	0	0.029380	0	7	116				
TJP3	27134	broad.mit.edu	37	19	3735583	3735583	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:3735583C>T	ENST00000541714.2	+	9	1468	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	TJP3_ENST00000262968.9_Missense_Mutation_p.R369W|TJP3_ENST00000589378.1_Missense_Mutation_p.R345W|TJP3_ENST00000539908.2_Missense_Mutation_p.R300W|TJP3_ENST00000587686.1_Missense_Mutation_p.R355W|TJP3_ENST00000382008.3_Missense_Mutation_p.R350W	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	336					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCTTCGGCGGGAAAGTTC	0.552																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1006-1008)Cgg>Tgg		tight junction protein 3							92.0	102.0	99.0					19																	3735583		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3735583C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1006C>T	19.37:g.3735583C>T	ENSP00000439278:p.Arg336Trp					TJP3_ENST00000382008.3_Missense_Mutation_p.R350W|TJP3_ENST00000589378.1_Missense_Mutation_p.R345W|TJP3_ENST00000587686.1_Missense_Mutation_p.R355W|TJP3_ENST00000262968.9_Missense_Mutation_p.R369W|TJP3_ENST00000539908.2_Missense_Mutation_p.R300W	p.R336W	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1468	+			350					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.1006C>T	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301211	0.23650	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.09163	3.01;3.18;3.02;3.11	3.35	1.19	0.21007	.	1.184050	0.06188	N	0.680794	T	0.18130	0.0435	L	0.29908	0.895	0.09310	N	0.999999	D;D;D;D	0.71674	0.997;0.998;0.996;0.995	P;D;P;P	0.69479	0.802;0.964;0.711;0.802	T	0.23368	-1.0190	10	0.66056	D	0.02	.	3.8584	0.08985	0.2387:0.6341:0.0:0.1273	.	355;369;350;336	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	W	336;300;350;369	ENSP00000439278:R336W;ENSP00000439991:R300W;ENSP00000371438:R350W;ENSP00000262968:R369W	ENSP00000262968:R369W	R	+	1	2	TJP3	3686583	0.000000	0.05858	0.004000	0.12327	0.141000	0.21300	-0.110000	0.10824	0.415000	0.25817	0.511000	0.50034	CGG		0.552	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			21	206	0	0	0	0.091800	0	21	206				
LRRC37BP1	147172	broad.mit.edu	37	17	28958801	28958801	+	RNA	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:28958801A>T	ENST00000417404.1	+	0	0									leucine rich repeat containing 37B pseudogene 1																		GGAATCCAGAAGGAGCATTCA	0.458																																						ENST00000412831.1																			0																																																			147172							g.chr17:28958801A>T	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28958801A>T						SMURF2P1_ENST00000578265.1_RNA								0	29	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.458	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		17	198	0	0	0	0.043863	0	17	198				
LRP1B	53353	broad.mit.edu	37	2	141081587	141081587	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:141081587C>T	ENST00000389484.3	-	81	13360	c.12389G>A	c.(12388-12390)gGa>gAa	p.G4130E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4130					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGTCCTGCTCCATATATATA	0.299										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12388-12390)gGa>gAa		low density lipoprotein receptor-related protein 1B							59.0	65.0	63.0					2																	141081587		2203	4285	6488	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141081587C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12389G>A	2.37:g.141081587C>T	ENSP00000374135:p.Gly4130Glu	TSP Lung(27;0.18)					p.G4130E	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	81	13360	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4130					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12389G>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.762155|4.762155	0.89932|0.89932	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.91011	.|-2.77	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.145965	.|0.45361	.|D	.|0.000361	D|D	0.95567|0.95567	0.8559|0.8559	M|M	0.77313|0.77313	2.365|2.365	0.58432|0.58432	D|D	0.999995|0.999995	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.95036|0.95036	0.8174|0.8174	5|10	.|0.56958	.|D	.|0.05	.|.	20.1027|20.1027	0.97880|0.97880	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4130	.|Q9NZR2	.|LRP1B_HUMAN	K|E	362|4130;4068	.|ENSP00000374135:G4130E	.|ENSP00000374135:G4130E	E|G	-|-	1|2	0|0	LRP1B|LRP1B	140798057|140798057	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.469000|7.469000	0.80959|0.80959	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.299	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		8	150	0	0	0	0.038147	0	8	150				
NCEH1	57552	broad.mit.edu	37	3	172365794	172365794	+	Silent	SNP	G	G	C	rs141870427	byFrequency	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:172365794G>C	ENST00000475381.1	-	2	482	c.249C>G	c.(247-249)acC>acG	p.T83T	NCEH1_ENST00000273512.3_Silent_p.T115T|NCEH1_ENST00000538775.1_Silent_p.T115T|NCEH1_ENST00000543711.1_Intron			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	83					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AGTCTGTGTCGGTCACCTTCA	0.512																																						ENST00000475381.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(247-249)acC>acG		neutral cholesterol ester hydrolase 1							89.0	83.0	85.0					3																	172365794		2203	4300	6503	SO:0001819	synonymous_variant	57552				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity	g.chr3:172365794G>C	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.249C>G	3.37:g.172365794G>C						NCEH1_ENST00000538775.1_Silent_p.T115T|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000273512.3_Silent_p.T115T	p.T83T			Q6PIU2	NCEH1_HUMAN			2	482	-			83					B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Silent	SNP	ENST00000475381.1	37	c.249C>G		.	.	.	.	.	.	.	.	.	.	g	0.029	-1.349738	0.01266	.	.	ENSG00000144959	ENST00000424772	.	.	.	5.96	-11.9	0.00025	.	.	.	.	.	T	0.40909	0.1136	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67734	-0.5594	4	.	.	.	-31.6789	5.1442	0.14975	0.232:0.3768:0.0579:0.3332	.	.	.	.	R	106	.	.	P	-	2	0	NCEH1	173848488	0.000000	0.05858	0.001000	0.08648	0.117000	0.20001	-7.987000	0.00026	-6.353000	0.00004	-3.294000	0.00046	CCG		0.512	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		4	124	0	0	0	0.014758	0	4	124				
ANGPTL4	51129	broad.mit.edu	37	19	8436298	8436298	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:8436298C>A	ENST00000301455.2	+	6	1102	c.931C>A	c.(931-933)Cag>Aag	p.Q311K	ANGPTL4_ENST00000393962.2_Missense_Mutation_p.Q273K|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.Q144K|RAB11B-AS1_ENST00000597785.1_RNA|RAB11B-AS1_ENST00000593581.1_RNA	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	311	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CGTGGCCGGCCAGCTGGGCGC	0.672																																						ENST00000301455.2																			0				large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						c.(931-933)Cag>Aag		angiopoietin-like 4							41.0	37.0	38.0					19																	8436298		2202	4298	6500	SO:0001583	missense	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8436298C>A	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.931C>A	19.37:g.8436298C>A	ENSP00000301455:p.Gln311Lys					ANGPTL4_ENST00000541807.1_Missense_Mutation_p.Q144K|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.Q273K	p.Q311K	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN			6	1102	+			311			Fibrinogen C-terminal.		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	c.931C>A	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	C	0.055	-1.238068	0.01493	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.19938	2.11;2.11;2.11	5.09	-5.72	0.02406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.495360	0.03723	N	0.252191	T	0.11153	0.0272	N	0.04880	-0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.28933	-1.0028	10	0.37606	T	0.19	.	13.3051	0.60347	0.1348:0.1249:0.7403:0.0	.	273;311	A8MY84;Q9BY76	.;ANGL4_HUMAN	K	311;273;144	ENSP00000301455:Q311K;ENSP00000377534:Q273K;ENSP00000439833:Q144K	ENSP00000301455:Q311K	Q	+	1	0	ANGPTL4	8342298	0.000000	0.05858	0.020000	0.16555	0.003000	0.03518	0.116000	0.15561	-1.025000	0.03334	-0.410000	0.06199	CAG		0.672	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		6	55	1	0	8.12818e-05	0.029380	9.27244e-05	6	55				
MTHFS	10588	broad.mit.edu	37	15	80181668	80181668	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:80181668G>A	ENST00000258874.3	-	2	206	c.146C>T	c.(145-147)tCc>tTc	p.S49F	MTHFS_ENST00000559722.1_5'UTR|ST20-MTHFS_ENST00000494999.1_5'UTR|ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.S25F	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	49					formate metabolic process (GO:0015942)|tetrahydrofolate metabolic process (GO:0046653)	cytoplasm (GO:0005737)	5-formyltetrahydrofolate cyclo-ligase activity (GO:0030272)|ATP binding (GO:0005524)|folic acid binding (GO:0005542)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		AATTCTTTTGGACTTTTGATA	0.378																																						ENST00000258874.3																			0				endometrium(3)|large_intestine(1)|liver(1)	5						c.(145-147)tCc>tTc		5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)							119.0	107.0	111.0					15																	80181668		2203	4300	6503	SO:0001583	missense	10588				folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding	g.chr15:80181668G>A	L38928	CCDS10311.1	15q24.3	2014-05-15			ENSG00000136371	ENSG00000136371	6.3.3.2		7437	protein-coding gene	gene with protein product		604197				8522195	Standard	NM_006441		Approved	HsT19268	uc002bex.4	P49914	OTTHUMG00000144174	ENST00000258874.3:c.146C>T	15.37:g.80181668G>A	ENSP00000258874:p.Ser49Phe					ST20-MTHFS_ENST00000494999.1_5'UTR|MTHFS_ENST00000559722.1_5'UTR|ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.S25F	p.S49F	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN		all cancers(203;0.00467)	2	206	-			49					H3BQ75	Missense_Mutation	SNP	ENST00000258874.3	37	c.146C>T	CCDS10311.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924399	0.52653	.	.	ENSG00000136371	ENST00000258874	T	0.50813	0.73	5.32	4.41	0.53225	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.256818	0.39615	N	0.001314	T	0.71005	0.3289	M	0.85197	2.74	0.21020	N	0.999802	D	0.89917	1.0	D	0.87578	0.998	T	0.66736	-0.5848	10	0.66056	D	0.02	-19.378	14.126	0.65219	0.0728:0.0:0.9272:0.0	.	49	P49914	MTHFS_HUMAN	F	49	ENSP00000258874:S49F	ENSP00000258874:S49F	S	-	2	0	MTHFS	77968723	1.000000	0.71417	0.036000	0.18154	0.941000	0.58515	4.008000	0.57103	1.253000	0.44018	-0.157000	0.13467	TCC		0.378	MTHFS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291374.2	NM_006441		8	179	0	0	0	0.058154	0	8	179				
SIAH1	6477	broad.mit.edu	37	16	48399363	48399363	+	Intron	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:48399363G>A	ENST00000394725.2	-	2	247				SIAH1_ENST00000573005.1_5'UTR|SIAH1_ENST00000356721.3_Missense_Mutation_p.S9F|SIAH1_ENST00000380006.2_5'Flank	NM_003031.3	NP_003022.3	Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1						anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GGAGTACAGAGAAGGTGGAGT	0.517																																						ENST00000356721.3																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(25-27)tCt>tTt		siah E3 ubiquitin protein ligase 1							139.0	112.0	121.0					16																	48399363		2200	4300	6500	SO:0001627	intron_variant	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48399363G>A	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000394725.2:c.2-3022C>T	16.37:g.48399363G>A						SIAH1_ENST00000573005.1_5'UTR|SIAH1_ENST00000394725.2_Intron	p.S9F	NM_001006610.1	NP_001006611.1	Q8IUQ4	SIAH1_HUMAN			1	449	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	0					A0FKF3|O43269|Q49A58|Q92880	Missense_Mutation	SNP	ENST00000394725.2	37	c.26C>T	CCDS10735.1	.	.	.	.	.	.	.	.	.	.	G	6.378	0.437819	0.12104	.	.	ENSG00000196470	ENST00000356721	.	.	.	5.16	1.64	0.23874	.	.	.	.	.	T	0.27489	0.0675	.	.	.	0.23845	N	0.996687	B	0.02656	0.0	B	0.01281	0.0	T	0.19745	-1.0296	7	0.38643	T	0.18	.	5.4834	0.16737	0.572:0.2724:0.1556:0.0	.	9	Q8IUQ4-2	.	F	9	.	ENSP00000349156:S9F	S	-	2	0	SIAH1	46956864	0.242000	0.23868	0.949000	0.38748	0.629000	0.37895	0.562000	0.23531	0.090000	0.17273	-0.469000	0.05056	TCT		0.517	SIAH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256841.1			13	38	0	0	0	0.024245	0	13	38				
TMEM199	147007	broad.mit.edu	37	17	26691847	26691847	+	IGR	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:26691847C>T	ENST00000292114.3	+	0	3148				CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.7_ENST00000577850.1_RNA|CTB-96E2.2_ENST00000555059.2_3'UTR|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_Nonsense_Mutation_p.W79*|VTN_ENST00000438614.1_Nonsense_Mutation_p.W79*|SARM1_ENST00000379061.4_Intron|VTN_ENST00000431468.1_Nonsense_Mutation_p.W80*	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GGCAAGTGACCCAGGCCAGGT	0.607																																						ENST00000536498.1																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(1)	5						c.(235-237)tgG>tgA		SEBOX homeobox							64.0	74.0	71.0					17																	26691847		2171	4278	6449	SO:0001628	intergenic_variant	645832				cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:26691847C>T	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26691847C>T						SARM1_ENST00000379061.4_Intron|SEBOX_ENST00000431468.1_Nonsense_Mutation_p.W80*|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000438614.1_Nonsense_Mutation_p.W79*|TMEM199_ENST00000509083.1_Intron	p.W79*			Q9HB31	SEBOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	9	1634	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		80						Nonsense_Mutation	SNP	ENST00000292114.3	37	c.237G>A	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048446	0.36181	.	.	ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000258852	ENST00000431468;ENST00000536498;ENST00000438614;ENST00000247029;ENST00000555059	.	.	.	4.68	1.44	0.22558	.	1.300610	0.05364	N	0.534169	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	5.5107	0.16878	0.0:0.6232:0.1438:0.233	.	.	.	.	X	80;79;79;84;105	.	ENSP00000247029:W84X	W	-	3	0	VTN;CTB-96E2.2	23715974	0.000000	0.05858	0.208000	0.23602	0.208000	0.24298	0.175000	0.16762	0.610000	0.30035	0.561000	0.74099	TGG		0.607	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		4	53	0	0	0	0.009096	0	4	53				
CSHL1	1444	broad.mit.edu	37	17	61987866	61987866	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:61987866A>C	ENST00000309894.5	-	3	219	c.220T>G	c.(220-222)Tca>Gca	p.S74A	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000392824.4_Missense_Mutation_p.I143M|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000450719.3_De_novo_Start_OutOfFrame|CSHL1_ENST00000346606.6_De_novo_Start_OutOfFrame	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	74						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						TGCAGGAATGAATACTTCTGT	0.507																																						ENST00000450719.3																			0				endometrium(3)|lung(6)	9								chorionic somatomammotropin hormone-like 1							176.0	168.0	171.0					17																	61987866		2203	4300	6503	SO:0001583	missense	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987866A>C	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.220T>G	17.37:g.61987866A>C	ENSP00000309524:p.Ser74Ala					CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000392824.4_Missense_Mutation_p.I143M|CSHL1_ENST00000309894.5_Missense_Mutation_p.S74A|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000346606.6_De_novo_Start_OutOfFrame|CSHL1_ENST00000259003.10_Intron				Q14406	CSHL_HUMAN			0	175	-								D3DU26|D3DU27|Q0VDB2	Translation_Start_Site	SNP	ENST00000309894.5	37		CCDS11652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	9.547|9.547	1.114996|1.114996	0.20795|0.20795	.|.	.|.	ENSG00000204414|ENSG00000204414	ENST00000392824|ENST00000309894;ENST00000259003;ENST00000450719	D|D	0.88818|0.90676	-2.43|-2.71	2.39|2.39	2.39|2.39	0.29439|0.29439	.|Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.|0.331923	.|0.29900	.|N	.|0.010917	D|D	0.90957|0.90957	0.7157|0.7157	M|M	0.75447|0.75447	2.3|2.3	0.09310|0.09310	N|N	1|1	D|B	0.65815|0.29037	0.995|0.231	P|B	0.56278|0.43274	0.795|0.414	D|D	0.85204|0.85204	0.1017|0.1017	9|10	0.87932|0.62326	D|D	0|0.03	.|.	6.7155|6.7155	0.23300|0.23300	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	143|74	B7Z6E9|Q14406	.|CSHL_HUMAN	M|A	143|74;69;69	ENSP00000376569:I143M|ENSP00000309524:S74A	ENSP00000376569:I143M|ENSP00000259003:S69A	I|S	-|-	3|1	3|0	GH1|GH1	59341598|59341598	0.214000|0.214000	0.23563|0.23563	0.004000|0.004000	0.12327|0.12327	0.002000|0.002000	0.02628|0.02628	2.029000|2.029000	0.41098|0.41098	1.358000|1.358000	0.45922|0.45922	0.254000|0.254000	0.18369|0.18369	ATT|TCA		0.507	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		15	248	0	0	0	0.038395	0	15	248				
ENTPD6	955	broad.mit.edu	37	20	25205950	25205950	+	Silent	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:25205950G>T	ENST00000376652.4	+	14	1516	c.1353G>T	c.(1351-1353)ctG>ctT	p.L451L	ENTPD6_ENST00000354989.5_Silent_p.L434L|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000360031.2_Silent_p.L450L|ENTPD6_ENST00000433259.2_Nonsense_Mutation_p.E432*			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	451					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GCAAAGTGCTGAAGGTAAGGG	0.612																																						ENST00000433259.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(1294-1296)Gaa>Taa		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							100.0	73.0	82.0					20																	25205950		2203	4300	6503	SO:0001819	synonymous_variant	955					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25205950G>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1353G>T	20.37:g.25205950G>T						ENTPD6_ENST00000376652.4_Silent_p.L451L|ENTPD6_ENST00000360031.2_Silent_p.L450L|ENTPD6_ENST00000354989.5_Silent_p.L434L|ENTPD6_ENST00000485936.1_3'UTR	p.E432*			O75354	ENTP6_HUMAN			13	1420	+			86					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Nonsense_Mutation	SNP	ENST00000376652.4	37	c.1294G>T	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.10|17.10	3.303493|3.303493	0.60195|0.60195	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000376641;ENST00000433259|ENST00000447877;ENST00000376666	.|.	.|.	.|.	5.51|5.51	2.24|2.24	0.28232|0.28232	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.27498|0.27498	N|N	0.952077|0.952077	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.24483|.	T|.	0.36|.	-12.9461|-12.9461	4.0529|4.0529	0.09803|0.09803	0.1958:0.0:0.5617:0.2425|0.1958:0.0:0.5617:0.2425	.|.	.|.	.|.	.|.	X|L	362;432|310;289	.|.	ENSP00000365828:E362X|.	E|X	+|+	1|2	0|2	ENTPD6|ENTPD6	25153950|25153950	0.656000|0.656000	0.27385|0.27385	1.000000|1.000000	0.80357|0.80357	0.724000|0.724000	0.41520|0.41520	-0.488000|-0.488000	0.06497|0.06497	1.307000|1.307000	0.44944|0.44944	0.462000|0.462000	0.41574|0.41574	GAA|TGA		0.612	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			9	41	1	0	0.000673444	0.069234	0.000746506	9	41				
PLAA	9373	broad.mit.edu	37	9	26913936	26913936	+	Missense_Mutation	SNP	C	C	A	rs150012469		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr9:26913936C>A	ENST00000397292.3	-	11	1913	c.1496G>T	c.(1495-1497)cGt>cTt	p.R499L	PLAA_ENST00000520641.1_5'Flank|PLAA_ENST00000520884.1_Missense_Mutation_p.R499L	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	499					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TGGTACATAACGACCAGCACC	0.353																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1495-1497)cGt>cTt		phospholipase A2-activating protein		C	LEU/ARG	2,4404	4.2+/-10.8	0,2,2201	99.0	94.0	96.0		1496	4.7	1.0	9	dbSNP_134	96	0,8600		0,0,4300	no	missense	PLAA	NM_001031689.2	102	0,2,6501	AA,AC,CC		0.0,0.0454,0.0154	possibly-damaging	499/796	26913936	2,13004	2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26913936C>A	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1496G>T	9.37:g.26913936C>A	ENSP00000380460:p.Arg499Leu					PLAA_ENST00000520884.1_Missense_Mutation_p.R499L	p.R499L	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	11	1913	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	499					Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1496G>T	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477666	0.84640	4.54E-4	0.0	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.58652	0.32;0.54	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	M	0.80508	2.5	0.80722	D	1	P;P	0.41910	0.764;0.645	B;B	0.36289	0.221;0.131	T	0.70153	-0.4950	10	0.54805	T	0.06	-13.002	18.2396	0.89963	0.0:1.0:0.0:0.0	.	499;499	E5RIM3;Q9Y263	.;PLAP_HUMAN	L	499	ENSP00000380460:R499L;ENSP00000429372:R499L	ENSP00000380460:R499L	R	-	2	0	PLAA	26903936	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.227000	0.65305	2.611000	0.88343	0.585000	0.79938	CGT		0.353	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		10	116	1	0	0.010729	0.080935	0.0115129	10	116				
DHX36	170506	broad.mit.edu	37	3	154022955	154022955	+	Missense_Mutation	SNP	C	C	T	rs189057829		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:154022955C>T	ENST00000496811.1	-	7	976	c.896G>A	c.(895-897)cGg>cAg	p.R299Q	DHX36_ENST00000544526.1_Missense_Mutation_p.R299Q|DHX36_ENST00000329463.5_Missense_Mutation_p.R299Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R299Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	299	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCTTGGCAACCGACTGTGAAT	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		16298	0.001		0.0	False		,,,				2504	0.0					ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(895-897)cGg>cAg		DEAH (Asp-Glu-Ala-His) box polypeptide 36							65.0	61.0	63.0					3																	154022955		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154022955C>T	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.896G>A	3.37:g.154022955C>T	ENSP00000417078:p.Arg299Gln					DHX36_ENST00000329463.5_Missense_Mutation_p.R299Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R299Q|DHX36_ENST00000544526.1_Missense_Mutation_p.R299Q	p.R299Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		7	976	-			299			Helicase ATP-binding.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.896G>A	CCDS3171.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.28	3.588286	0.66105	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.02552	4.25;4.25;4.25;4.25;4.25	5.81	5.81	0.92471	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.053629	0.85682	D	0.000000	T	0.03348	0.0097	L	0.38733	1.17	0.58432	D	0.999999	B;B;B	0.26363	0.085;0.147;0.104	B;B;B	0.25614	0.062;0.035;0.036	T	0.55915	-0.8065	10	0.22706	T	0.39	.	13.2989	0.60313	0.0:0.9278:0.0:0.0722	.	299;299;299	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	Q	299;299;299;299;213	ENSP00000417078:R299Q;ENSP00000309296:R299Q;ENSP00000444247:R299Q;ENSP00000330113:R299Q;ENSP00000419862:R213Q	ENSP00000309296:R299Q	R	-	2	0	DHX36	155505649	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.876000	0.56115	2.759000	0.94783	0.591000	0.81541	CGG		0.353	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		4	79	0	0	0	0.009096	0	4	79				
DNAJB1	3337	broad.mit.edu	37	19	14627517	14627517	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:14627517T>C	ENST00000254322.2	-	2	623	c.553A>G	c.(553-555)Atc>Gtc	p.I185V	DNAJB1_ENST00000396969.4_Missense_Mutation_p.I85V	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	185					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TTGTGGGAGATTTTCATCTTC	0.502																																						ENST00000254322.2																			0				NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16						c.(553-555)Atc>Gtc		DnaJ (Hsp40) homolog, subfamily B, member 1							153.0	155.0	155.0					19																	14627517		2203	4300	6503	SO:0001583	missense	3337				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	g.chr19:14627517T>C	D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"""Heat shock proteins / DNAJ (HSP40)"""	5270	protein-coding gene	gene with protein product	"""radial spoke 16 homolog B (Chlamydomonas)"""	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.553A>G	19.37:g.14627517T>C	ENSP00000254322:p.Ile185Val					DNAJB1_ENST00000396969.4_Missense_Mutation_p.I85V	p.I185V	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN		GBM - Glioblastoma multiforme(1328;0.0476)	2	623	-			185					B4DX52	Missense_Mutation	SNP	ENST00000254322.2	37	c.553A>G	CCDS12312.1	.	.	.	.	.	.	.	.	.	.	t	24.3	4.513947	0.85389	.	.	ENSG00000132002	ENST00000254322;ENST00000396969	D;D	0.83591	-1.74;-1.74	5.16	5.16	0.70880	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.80513	0.4637	L	0.59436	1.845	0.80722	D	1	B	0.12013	0.005	B	0.18263	0.021	T	0.78074	-0.2346	10	0.62326	D	0.03	.	12.9213	0.58234	0.0:0.0:0.0:1.0	.	185	P25685	DNJB1_HUMAN	V	185;85	ENSP00000254322:I185V;ENSP00000444212:I85V	ENSP00000254322:I185V	I	-	1	0	DNAJB1	14488517	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.785000	0.85724	1.936000	0.56123	0.459000	0.35465	ATC		0.502	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		30	341	0	0	0	0.054565	0	30	341				
KIF16B	55614	broad.mit.edu	37	20	16359952	16359952	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:16359952C>T	ENST00000354981.2	-	19	2852	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K	KIF16B_ENST00000355755.3_Missense_Mutation_p.E899K|KIF16B_ENST00000378003.2_Missense_Mutation_p.E125K|KIF16B_ENST00000408042.1_Missense_Mutation_p.E899K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	899	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGCCTGTACTCCACTGGCTTT	0.413																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2695-2697)Gag>Aag		kinesin family member 16B							92.0	89.0	90.0					20																	16359952		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359952C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2695G>A	20.37:g.16359952C>T	ENSP00000347076:p.Glu899Lys					KIF16B_ENST00000378003.2_Missense_Mutation_p.E125K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E899K|KIF16B_ENST00000408042.1_Missense_Mutation_p.E899K	p.E899K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2852	-			899			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2695G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380843	0.61845	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.6	4.65	0.58169	.	0.050712	0.85682	D	0.000000	T	0.38188	0.1031	L	0.59436	1.845	0.44268	D	0.997125	D;D;D;D	0.61697	0.99;0.978;0.977;0.986	P;P;P;P	0.57009	0.721;0.811;0.798;0.751	T	0.28459	-1.0043	10	0.72032	D	0.01	.	16.1938	0.82011	0.0:0.8664:0.1336:0.0	.	899;899;899;899	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	K	899;899;743;125;899	ENSP00000347076:E899K;ENSP00000347995:E899K;ENSP00000367242:E125K;ENSP00000384164:E899K	ENSP00000347076:E899K	E	-	1	0	KIF16B	16307952	0.913000	0.31002	0.005000	0.12908	0.012000	0.07955	1.932000	0.40143	1.350000	0.45770	0.650000	0.86243	GAG		0.413	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		16	217	0	0	0	0.028581	0	16	217				
TPTE2P6	374491	broad.mit.edu	37	13	25168501	25168501	+	RNA	SNP	G	G	A	rs4770716	byFrequency	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:25168501G>A	ENST00000453498.1	+	0	1173				TPTE2P6_ENST00000440905.1_RNA																							TTTTCTCTTCGGTGAGTAATC	0.388													.|||	851	0.169928	0.1914	0.183	5008	,	,		15991	0.0982		0.2634	False		,,,				2504	0.1094					ENST00000453498.1																			0																																																			374491							g.chr13:25168501G>A																													13.37:g.25168501G>A														0	1173	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.388	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	50	0	0	0	0.004672	0	3	50				
AKAP9	10142	broad.mit.edu	37	7	91730273	91730273	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:91730273A>C	ENST00000359028.2	+	45	11237	c.11012A>C	c.(11011-11013)aAa>aCa	p.K3671T	AKAP9_ENST00000356239.3_Missense_Mutation_p.K3667T|AKAP9_ENST00000358100.2_Missense_Mutation_p.K3617T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3671					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)			AAATCTTTGAAAAGGGCAGAG	0.388			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				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						c.(11011-11013)aAa>aCa		A kinase (PRKA) anchor protein 9							81.0	82.0	81.0					7																	91730273		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.chr7:91730273A>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.11012A>C	7.37:g.91730273A>C	ENSP00000351922:p.Lys3671Thr					AKAP9_ENST00000358100.2_Missense_Mutation_p.K3617T|AKAP9_ENST00000356239.3_Missense_Mutation_p.K3667T	p.K3671T			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		45	11237	+	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)		3671					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.11012A>C		.	.	.	.	.	.	.	.	.	.	A	15.83	2.948972	0.53186	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03889	3.87;3.84;3.88;3.77	5.42	4.24	0.50183	.	0.000000	0.39834	N	0.001259	T	0.16938	0.0407	M	0.73598	2.24	0.39087	D	0.961019	P;D;D;D;D	0.76494	0.828;0.999;0.993;0.996;0.996	B;D;P;P;P	0.65443	0.365;0.935;0.722;0.856;0.856	T	0.00386	-1.1772	10	0.72032	D	0.01	.	9.7342	0.40377	0.8647:0.0:0.1353:0.0	.	942;3671;3671;3667;3659	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	T	3667;3671;3617;3671;1513	ENSP00000348573:K3667T;ENSP00000351922:K3671T;ENSP00000350813:K3617T;ENSP00000378042:K1513T	ENSP00000348573:K3667T	K	+	2	0	AKAP9	91568209	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.024000	0.49674	2.275000	0.75901	0.528000	0.53228	AAA		0.388	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		18	98	0	0	0	0.049695	0	18	98				
BLZF1	8548	broad.mit.edu	37	1	169349768	169349768	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:169349768A>T	ENST00000367808.3	+	5	1141	c.718A>T	c.(718-720)Aac>Tac	p.N240Y	BLZF1_ENST00000329281.2_Missense_Mutation_p.N240Y			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	240					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					ACAGCGTCAAAACCGTGATGC	0.393																																						ENST00000367808.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14						c.(718-720)Aac>Tac		basic leucine zipper nuclear factor 1							132.0	111.0	118.0					1																	169349768		2203	4300	6503	SO:0001583	missense	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169349768A>T	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.718A>T	1.37:g.169349768A>T	ENSP00000356782:p.Asn240Tyr					BLZF1_ENST00000329281.2_Missense_Mutation_p.N240Y	p.N240Y			Q9H2G9	GO45_HUMAN			5	1141	+	all_hematologic(923;0.208)		240					O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	c.718A>T	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.547171	0.27652	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000426663	T;T;T	0.16457	2.34;2.34;2.34	5.52	4.38	0.52667	.	0.262979	0.42821	D	0.000648	T	0.02888	0.0086	L	0.33485	1.01	0.34900	D	0.746418	B;B	0.27166	0.17;0.17	B;B	0.23150	0.044;0.044	T	0.33624	-0.9861	9	0.02654	T	1	-20.8808	7.7894	0.29112	0.7727:0.155:0.0723:0.0	.	240;240	A8K6R0;Q9H2G9	.;GO45_HUMAN	Y	240	ENSP00000356782:N240Y;ENSP00000327541:N240Y;ENSP00000404408:N240Y	ENSP00000327541:N240Y	N	+	1	0	BLZF1	167616392	1.000000	0.71417	0.960000	0.40013	0.981000	0.71138	4.717000	0.61923	0.904000	0.36572	0.519000	0.50382	AAC		0.393	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666		7	106	0	0	0	0.029380	0	7	106				
SEC14L3	266629	broad.mit.edu	37	22	30858091	30858091	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr22:30858091G>C	ENST00000215812.4	-	9	843	c.753C>G	c.(751-753)aaC>aaG	p.N251K	SEC14L3_ENST00000539629.1_Missense_Mutation_p.N192K|SEC14L3_ENST00000402286.1_Missense_Mutation_p.N174K|SEC14L3_ENST00000401751.1_Missense_Mutation_p.N192K|SEC14L3_ENST00000540910.1_Missense_Mutation_p.N174K|SEC14L3_ENST00000403066.1_Missense_Mutation_p.N192K|SEC14L3_ENST00000415957.2_Missense_Mutation_p.N192K	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	251						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AACATTTGGGGTTCCCATCTG	0.498																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000403066.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(574-576)aaC>aaG		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)						89.0	80.0	83.0					22																	30858091		2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30858091G>C	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.753C>G	22.37:g.30858091G>C	ENSP00000215812:p.Asn251Lys					SEC14L3_ENST00000415957.2_Missense_Mutation_p.N192K|SEC14L3_ENST00000540910.1_Missense_Mutation_p.N174K|SEC14L3_ENST00000402286.1_Missense_Mutation_p.N174K|SEC14L3_ENST00000401751.1_Missense_Mutation_p.N192K|SEC14L3_ENST00000539629.1_Missense_Mutation_p.N192K|SEC14L3_ENST00000215812.4_Missense_Mutation_p.N251K	p.N192K			Q9UDX4	S14L3_HUMAN			10	859	-			251			CRAL-TRIO.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	c.576C>G	CCDS13877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.31|15.31	2.795021|2.795021	0.50208|0.50208	.|.	.|.	ENSG00000100012|ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910|ENST00000435069	T;T;T;T;T;T;T|.	0.59906|.	0.23;0.23;0.23;1.75;0.23;0.23;1.75|.	5.63|5.63	0.721|0.721	0.18219|0.18219	Cellular retinaldehyde-binding/triple function, C-terminal (2);|.	0.046220|.	0.85682|.	D|.	0.000000|.	T|T	0.74891|0.74891	0.3776|0.3776	M|M	0.87900|0.87900	2.915|2.915	0.80722|0.80722	D|D	1|1	D;B|.	0.53619|.	0.961;0.414|.	P;B|.	0.44394|.	0.448;0.189|.	T|T	0.74484|0.74484	-0.3650|-0.3650	10|5	0.87932|.	D|.	0|.	-39.2913|-39.2913	10.6874|10.6874	0.45852|0.45852	0.2837:0.0:0.7163:0.0|0.2837:0.0:0.7163:0.0	.|.	174;251|.	E9PE57;Q9UDX4|.	.;S14L3_HUMAN|.	K|S	192;192;251;174;192;192;174|217	ENSP00000385941:N192K;ENSP00000401864:N192K;ENSP00000215812:N251K;ENSP00000385004:N174K;ENSP00000383896:N192K;ENSP00000444691:N192K;ENSP00000439752:N174K|.	ENSP00000215812:N251K|.	N|T	-|-	3|2	2|0	SEC14L3|SEC14L3	29188091|29188091	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.978000|0.978000	0.69477|0.69477	1.875000|1.875000	0.39578|0.39578	-0.013000|-0.013000	0.14199|0.14199	-0.137000|-0.137000	0.14449|0.14449	AAC|ACC		0.498	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		8	37	0	0	0	0.047766	0	8	37				
ARHGEF12	23365	broad.mit.edu	37	11	120352147	120352147	+	Silent	SNP	C	C	T	rs569473564		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:120352147C>T	ENST00000397843.2	+	39	4582	c.4416C>T	c.(4414-4416)ccC>ccT	p.P1472P	ARHGEF12_ENST00000532993.1_Silent_p.P1369P|ARHGEF12_ENST00000356641.3_Silent_p.P1453P	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1472					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CATTCACCCCCGAATTTCTGG	0.532			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(4414-4416)ccC>ccT		Rho guanine nucleotide exchange factor (GEF) 12							90.0	91.0	91.0					11																	120352147		1915	4133	6048	SO:0001819	synonymous_variant	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120352147C>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4416C>T	11.37:g.120352147C>T						ARHGEF12_ENST00000356641.3_Silent_p.P1453P|ARHGEF12_ENST00000532993.1_Silent_p.P1369P	p.P1472P	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	39	4582	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1472					O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	c.4416C>T	CCDS41727.1																																																																																				0.532	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		6	95	0	0	0	0.021553	0	6	95				
EYA1	2138	broad.mit.edu	37	8	72184055	72184055	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:72184055T>G	ENST00000340726.3	-	10	1543	c.904A>C	c.(904-906)Aaa>Caa	p.K302Q	EYA1_ENST00000388740.3_Missense_Mutation_p.K269Q|EYA1_ENST00000388742.4_Missense_Mutation_p.K302Q|EYA1_ENST00000388741.2_Missense_Mutation_p.K268Q|EYA1_ENST00000419131.1_Missense_Mutation_p.K297Q|EYA1_ENST00000388743.2_Missense_Mutation_p.K301Q|EYA1_ENST00000303824.7_Missense_Mutation_p.K296Q	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	302					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCACGTGATTTCCCATCTGAA	0.468																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(904-906)Aaa>Caa		eyes absent homolog 1 (Drosophila)							249.0	229.0	236.0					8																	72184055		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72184055T>G	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.904A>C	8.37:g.72184055T>G	ENSP00000342626:p.Lys302Gln					EYA1_ENST00000388743.2_Missense_Mutation_p.K301Q|EYA1_ENST00000388742.4_Missense_Mutation_p.K302Q|EYA1_ENST00000303824.7_Missense_Mutation_p.K296Q|EYA1_ENST00000388741.2_Missense_Mutation_p.K268Q|EYA1_ENST00000419131.1_Missense_Mutation_p.K297Q|EYA1_ENST00000388740.3_Missense_Mutation_p.K269Q	p.K302Q	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		10	1543	-	Breast(64;0.046)		302					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.904A>C	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847467	0.71603	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.7	5.7	0.88788	.	0.044532	0.85682	D	0.000000	D	0.89241	0.6659	M	0.77486	2.375	0.80722	D	1	D;B;B;D;B	0.57899	0.981;0.138;0.138;0.981;0.314	P;B;B;P;B	0.57204	0.801;0.124;0.071;0.815;0.124	D	0.90017	0.4125	10	0.54805	T	0.06	-20.5552	15.9649	0.79961	0.0:0.0:0.0:1.0	.	296;229;269;302;297	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	Q	302;302;270;269;296;268;301;297	ENSP00000373394:K302Q;ENSP00000342626:K302Q;ENSP00000373392:K269Q;ENSP00000303221:K296Q;ENSP00000373393:K268Q;ENSP00000373395:K301Q;ENSP00000410176:K297Q	ENSP00000303221:K296Q	K	-	1	0	EYA1	72346609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.178000	0.69098	0.459000	0.35465	AAA		0.468	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		33	419	0	0	0	0.041601	0	33	419				
ELOVL6	79071	broad.mit.edu	37	4	110972591	110972591	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:110972591C>A	ENST00000394607.3	-	5	864	c.701G>T	c.(700-702)tGg>tTg	p.W234L	ELOVL6_ENST00000302274.3_Missense_Mutation_p.W234L			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	234					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GAGTGAGGACCAGAAGATGTT	0.473																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(700-702)tGg>tTg		ELOVL fatty acid elongase 6							144.0	129.0	134.0					4																	110972591		2203	4300	6503	SO:0001583	missense	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972591C>A	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.701G>T	4.37:g.110972591C>A	ENSP00000378105:p.Trp234Leu					ELOVL6_ENST00000302274.3_Missense_Mutation_p.W234L	p.W234L			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	864	-			234					Q4W5L0|Q8NCD1	Missense_Mutation	SNP	ENST00000394607.3	37	c.701G>T	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202159	0.38905	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	T;T	0.15834	2.39;2.39	6.07	5.22	0.72569	.	0.059621	0.64402	N	0.000001	T	0.11879	0.0289	N	0.26130	0.795	0.80722	D	1	B	0.11235	0.004	B	0.17098	0.017	T	0.05115	-1.0905	10	0.05525	T	0.97	-28.2572	15.1212	0.72443	0.0:0.9327:0.0:0.0673	.	234	Q9H5J4	ELOV6_HUMAN	L	234	ENSP00000378105:W234L;ENSP00000304736:W234L	ENSP00000304736:W234L	W	-	2	0	ELOVL6	111192040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.745000	0.85046	1.570000	0.49709	0.655000	0.94253	TGG		0.473	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		13	152	1	0	0.00185496	0.016723	0.00203699	13	152				
TNPO3	23534	broad.mit.edu	37	7	128655071	128655071	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:128655071C>A	ENST00000265388.5	-	4	657	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	TNPO3_ENST00000471166.1_Missense_Mutation_p.D172Y|TNPO3_ENST00000482320.1_Missense_Mutation_p.D106Y|TNPO3_ENST00000393245.1_Missense_Mutation_p.D172Y|TNPO3_ENST00000471234.1_Missense_Mutation_p.D172Y			Q9Y5L0	TNPO3_HUMAN	transportin 3	172					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AAGGCCAAATCTTCTATAATT	0.393																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(514-516)Gat>Tat		transportin 3							113.0	108.0	110.0					7																	128655071		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128655071C>A	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.514G>T	7.37:g.128655071C>A	ENSP00000265388:p.Asp172Tyr					TNPO3_ENST00000265388.5_Missense_Mutation_p.D172Y|TNPO3_ENST00000482320.1_Missense_Mutation_p.D106Y|TNPO3_ENST00000471166.1_Missense_Mutation_p.D172Y|TNPO3_ENST00000471234.1_Missense_Mutation_p.D172Y	p.D172Y	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			4	887	-			172					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.514G>T	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530114	0.85706	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.62	5.62	0.85841	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65196	0.2668	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.991	D;D;D	0.71184	0.958;0.972;0.926	T	0.67209	-0.5728	10	0.62326	D	0.03	.	17.1461	0.86767	0.0:1.0:0.0:0.0	.	172;172;172	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	Y	172;172;106;172;172	ENSP00000376936:D172Y;ENSP00000265388:D172Y;ENSP00000420089:D106Y;ENSP00000418646:D172Y;ENSP00000418267:D172Y	ENSP00000265388:D172Y	D	-	1	0	TNPO3	128442307	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.772000	0.85439	2.634000	0.89283	0.591000	0.81541	GAT		0.393	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		12	118	1	0	7.93312e-07	0.020292	9.46337e-07	12	118				
SIAE	54414	broad.mit.edu	37	11	124524555	124524555	+	Silent	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:124524555G>C	ENST00000263593.3	-	4	712	c.540C>G	c.(538-540)acC>acG	p.T180T	SIAE_ENST00000545756.1_Silent_p.T145T			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	180					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		ACATACCTGAGGTGGGCTTAG	0.483																																						ENST00000263593.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15						c.(538-540)acC>acG		sialic acid acetylesterase							166.0	160.0	162.0					11																	124524555		2201	4299	6500	SO:0001819	synonymous_variant	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124524555G>C	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.540C>G	11.37:g.124524555G>C						SIAE_ENST00000545756.1_Silent_p.T145T	p.T180T			Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	4	712	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	180					B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Silent	SNP	ENST00000263593.3	37	c.540C>G	CCDS8449.1																																																																																				0.483	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		21	234	0	0	0	0.083992	0	21	234				
PTPRT	11122	broad.mit.edu	37	20	40739003	40739003	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:40739003G>A	ENST00000373187.1	-	23	3223	c.3224C>T	c.(3223-3225)cCg>cTg	p.P1075L	PTPRT_ENST00000356100.2_Missense_Mutation_p.P1084L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P1074L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P1078L|PTPRT_ENST00000373201.1_Missense_Mutation_p.P1065L|PTPRT_ENST00000373198.4_Missense_Mutation_p.P1094L|PTPRT_ENST00000373184.1_Missense_Mutation_p.P1085L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1075	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCAGCTTCCGGGGGGTTGAG	0.627																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(3289-3291)cCg>cTg		protein tyrosine phosphatase, receptor type, T							42.0	48.0	46.0					20																	40739003		1934	4139	6073	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40739003G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3224C>T	20.37:g.40739003G>A	ENSP00000362283:p.Pro1075Leu					PTPRT_ENST00000373201.1_Missense_Mutation_p.P1065L|PTPRT_ENST00000373187.1_Missense_Mutation_p.P1075L|PTPRT_ENST00000373184.1_Missense_Mutation_p.P1085L|PTPRT_ENST00000356100.2_Missense_Mutation_p.P1084L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P1074L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P1078L	p.P1097L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			24	3525	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1075			Tyrosine-protein phosphatase 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3290C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212932	0.58452	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	4.8	4.8	0.61643	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	M	0.68593	2.085	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.55824	0.678;0.785	T	0.54036	-0.8353	10	0.62326	D	0.03	.	18.2503	0.90000	0.0:0.0:1.0:0.0	.	1097;1075	O14522-1;O14522	.;PTPRT_HUMAN	L	1074;1075;1078;1084;1097;1085;1065	ENSP00000362286:P1074L;ENSP00000362283:P1075L;ENSP00000362289:P1078L;ENSP00000348408:P1084L;ENSP00000362294:P1097L;ENSP00000362280:P1085L;ENSP00000362297:P1065L	ENSP00000348408:P1084L	P	-	2	0	PTPRT	40172417	1.000000	0.71417	0.684000	0.30055	0.149000	0.21700	6.686000	0.74548	2.376000	0.81061	0.655000	0.94253	CCG		0.627	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			22	72	0	0	0	0.091800	0	22	72				
OR5AC2	81050	broad.mit.edu	37	3	97806357	97806357	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:97806357G>T	ENST00000358642.2	+	1	341	c.341G>T	c.(340-342)tGc>tTc	p.C114F		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	114					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(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ACTACAGAATGCTTCCTCCTG	0.448																																						ENST00000358642.2																			0				endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(340-342)tGc>tTc		olfactory receptor, family 5, subfamily AC, member 2							196.0	181.0	186.0					3																	97806357		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806357G>T	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.341G>T	3.37:g.97806357G>T	ENSP00000351466:p.Cys114Phe						p.C114F	NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN			1	341	+			114						Missense_Mutation	SNP	ENST00000358642.2	37	c.341G>T	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687051	0.48097	.	.	ENSG00000196578	ENST00000358642	T	0.02121	4.44	5.29	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40064	U	0.001185	T	0.05502	0.0145	L	0.54323	1.7	0.09310	N	1	P	0.49358	0.923	P	0.53549	0.729	T	0.18650	-1.0330	10	0.66056	D	0.02	-19.0161	7.0364	0.24995	0.0881:0.0:0.7413:0.1706	.	114	Q9NZP5	O5AC2_HUMAN	F	114	ENSP00000351466:C114F	ENSP00000351466:C114F	C	+	2	0	OR5AC2	99289047	0.000000	0.05858	0.997000	0.53966	0.857000	0.48899	-0.505000	0.06367	1.272000	0.44329	0.590000	0.80494	TGC		0.448	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			23	380	1	0	9.62636e-23	0.069288	1.28534e-22	23	380				
HOXB6	3216	broad.mit.edu	37	17	46673816	46673816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:46673816G>A	ENST00000484302.2	-	3	1256	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB6_ENST00000225648.3_Nonsense_Mutation_p.Q212*|HOXB-AS3_ENST00000466037.2_RNA|HOXB6_ENST00000490419.1_5'Flank|HOXB3_ENST00000552000.2_Intron|HOXB5_ENST00000239151.5_5'Flank|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000492897.3_RNA			P17509	HXB6_HUMAN	homeobox B6	212					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte homeostasis (GO:0034101)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCACTGAGCTGAGACGCGCTG	0.602																																						ENST00000484302.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(634-636)Cag>Tag		homeobox B6							205.0	177.0	186.0					17																	46673816		2203	4300	6503	SO:0001587	stop_gained	3216				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46673816G>A		CCDS11531.1	17q21.32	2011-06-20	2005-12-22		ENSG00000108511	ENSG00000108511		"""Homeoboxes / ANTP class : HOXL subclass"""	5117	protein-coding gene	gene with protein product		142961	"""homeo box B6"""	HOX2, HOX2B		1973146, 1358459	Standard	XM_005257284		Approved		uc002ins.1	P17509	OTTHUMG00000159912	ENST00000484302.2:c.634C>T	17.37:g.46673816G>A	ENSP00000420009:p.Gln212*					HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB6_ENST00000225648.3_Nonsense_Mutation_p.Q212*|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000467155.2_RNA	p.Q212*			P17509	HXB6_HUMAN			3	1256	-			212					A8K835|D3DTV5|P09068|Q9HB11|Q9UGH2	Nonsense_Mutation	SNP	ENST00000484302.2	37	c.634C>T	CCDS11531.1	.	.	.	.	.	.	.	.	.	.	G	37	6.583947	0.97684	.	.	ENSG00000108511	ENST00000484302;ENST00000225648	.	.	.	4.52	3.53	0.40419	.	0.182576	0.35646	N	0.003078	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	9.4335	0.38624	0.0:0.1569:0.6805:0.1626	.	.	.	.	X	212	.	ENSP00000225648:Q212X	Q	-	1	0	HOXB6	44028815	0.997000	0.39634	0.997000	0.53966	0.977000	0.68977	3.428000	0.52792	1.081000	0.41110	0.563000	0.77884	CAG		0.602	HOXB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358146.2			7	391	0	0	0	0.038147	0	7	391				
RIMKLB	57494	broad.mit.edu	37	12	8926168	8926168	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:8926168T>C	ENST00000538135.1	+	6	1774	c.949T>C	c.(949-951)Tcc>Ccc	p.S317P	A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000357529.3_Missense_Mutation_p.S317P|RIMKLB_ENST00000535829.1_Missense_Mutation_p.S317P			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	317					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCGGCGTATGTCCCTGCTCTC	0.562																																						ENST00000357529.3																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(949-951)Tcc>Ccc		ribosomal modification protein rimK-like family member B							60.0	63.0	62.0					12																	8926168		1950	4142	6092	SO:0001583	missense	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8926168T>C	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.949T>C	12.37:g.8926168T>C	ENSP00000440943:p.Ser317Pro					RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000538135.1_Missense_Mutation_p.S317P|RIMKLB_ENST00000535829.1_Missense_Mutation_p.S317P	p.S317P	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN			7	2211	+			317					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	c.949T>C	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.491832	0.64074	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	U	0.000000	T	0.49695	0.1572	L	0.29908	0.895	0.80722	D	1	D	0.55800	0.973	P	0.49829	0.623	T	0.44711	-0.9310	8	.	.	.	.	14.8197	0.70062	0.0:0.0:0.0:1.0	.	317	Q9ULI2	RIMKB_HUMAN	P	317	.	.	S	+	1	0	RIMKLB	8817435	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.556000	0.82233	2.172000	0.68678	0.482000	0.46254	TCC		0.562	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		29	108	0	0	0	0.041601	0	29	108				
USH2A	7399	broad.mit.edu	37	1	216348688	216348688	+	Silent	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:216348688A>T	ENST00000307340.3	-	21	4919	c.4533T>A	c.(4531-4533)gcT>gcA	p.A1511A	USH2A_ENST00000366942.3_Silent_p.A1511A|USH2A_ENST00000366943.2_Silent_p.A1511A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1511					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)			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)		TGGTCATCAGAGCTGGTAGAG	0.443										HNSCC(13;0.011)																												ENST00000366943.2																			0				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						c.(4531-4533)gcT>gcA		Usher syndrome 2A (autosomal recessive, mild)							119.0	97.0	105.0					1																	216348688		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:216348688A>T	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.4533T>A	1.37:g.216348688A>T		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.A1511A|USH2A_ENST00000366942.3_Silent_p.A1511A	p.A1511A			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	21	4919	-			1511					Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.4533T>A	CCDS31025.1																																																																																				0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		7	90	0	0	0	0.038147	0	7	90				
SLC10A3	8273	broad.mit.edu	37	X	153716765	153716765	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chrX:153716765G>A	ENST00000393587.4	-	3	778	c.515C>T	c.(514-516)cCt>cTt	p.P172L	UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000263512.4_Missense_Mutation_p.P172L|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.P227L|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000369649.4_Missense_Mutation_p.P143L	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	172					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCTTCAGCAGGTGAGACCTT	0.602																																						ENST00000263512.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(514-516)cCt>cTt		solute carrier family 10, member 3							85.0	82.0	83.0					X																	153716765		2203	4300	6503	SO:0001583	missense	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716765G>A	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.515C>T	X.37:g.153716765G>A	ENSP00000377212:p.Pro172Leu					SLC10A3_ENST00000393586.1_Missense_Mutation_p.P227L|SLC10A3_ENST00000393587.4_Missense_Mutation_p.P172L|SLC10A3_ENST00000369649.4_Missense_Mutation_p.P143L	p.P172L	NM_019848.3	NP_062822.1	P09131	P3_HUMAN			2	1013	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		172					Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	37	c.515C>T	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633496	0.47049	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587;ENST00000453912	T;T;T;T	0.09445	3.15;2.98;3.02;3.02	5.36	4.49	0.54785	.	0.925262	0.08882	U	0.879899	T	0.31513	0.0799	M	0.76002	2.32	0.44181	D	0.996993	D;D	0.69078	0.997;0.997	P;D	0.66716	0.895;0.946	T	0.00134	-1.2008	10	0.41790	T	0.15	-7.6595	9.8435	0.41013	0.0:0.1479:0.6961:0.156	.	143;172	Q9BSL2;P09131	.;P3_HUMAN	L	143;227;172;172;172	ENSP00000358663:P143L;ENSP00000377211:P227L;ENSP00000263512:P172L;ENSP00000377212:P172L	ENSP00000263512:P172L	P	-	2	0	SLC10A3	153369959	1.000000	0.71417	0.022000	0.16811	0.232000	0.25224	6.630000	0.74272	1.023000	0.39654	0.600000	0.82982	CCT		0.602	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		53	67	0	0	0	0.048971	0	53	67				
FAM66D	100132923	broad.mit.edu	37	8	11985706	11985706	+	RNA	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:11985706G>A	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		AGAGGACATAGGCCTGTTGAC	0.453																																						ENST00000434078.2																			0																																																			100132923							g.chr8:11985706G>A			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11985706G>A								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.453	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		3	55	0	0	0	0.014758	0	3	55				
USP29	57663	broad.mit.edu	37	19	57641043	57641043	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:57641043C>A	ENST00000254181.4	+	4	1454	c.1000C>A	c.(1000-1002)Cag>Aag	p.Q334K	USP29_ENST00000598197.1_Missense_Mutation_p.Q334K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	334	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GACCTTGACCCAGCTGCTTGC	0.378																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1000-1002)Cag>Aag		ubiquitin specific peptidase 29							83.0	84.0	84.0					19																	57641043		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641043C>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1000C>A	19.37:g.57641043C>A	ENSP00000254181:p.Gln334Lys					USP29_ENST00000598197.1_Missense_Mutation_p.Q334K	p.Q334K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1454	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	334						Missense_Mutation	SNP	ENST00000254181.4	37	c.1000C>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.313843	0.23908	.	.	ENSG00000131864	ENST00000254181	T	0.27557	1.66	2.78	0.454	0.16644	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.524091	0.14109	N	0.340848	T	0.29652	0.0740	N	0.25647	0.755	0.09310	N	1	D	0.54964	0.969	P	0.55455	0.776	T	0.12426	-1.0548	10	0.42905	T	0.14	-1.2804	7.2801	0.26306	0.5289:0.4711:0.0:0.0	.	334	Q9HBJ7	UBP29_HUMAN	K	334	ENSP00000254181:Q334K	ENSP00000254181:Q334K	Q	+	1	0	USP29	62332855	0.953000	0.32496	0.000000	0.03702	0.001000	0.01503	1.105000	0.31086	0.148000	0.19059	-0.169000	0.13324	CAG		0.378	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			19	198	1	0	7.45023e-12	0.055883	9.4638e-12	19	198				
TP53	7157	broad.mit.edu	37	17	7578247	7578247	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:7578247A>T	ENST00000269305.4	-	6	791	c.602T>A	c.(601-603)tTg>tAg	p.L201*	TP53_ENST00000359597.4_Nonsense_Mutation_p.L201*|TP53_ENST00000445888.2_Nonsense_Mutation_p.L201*|TP53_ENST00000455263.2_Nonsense_Mutation_p.L201*|TP53_ENST00000420246.2_Nonsense_Mutation_p.L201*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.L201*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	201	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; somatic mutation).|LR -> FC (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(5)|p.N200fs*4(1)|p.L201P(1)|p.L201S(1)|p.E198fs*7(1)|p.L201fs*46(1)|p.P191fs*6(1)|p.G199fs*42(1)|p.L201*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCCACACGCAAATTTCCTTC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		21	Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)|Substitution - Missense(2)|Substitution - Nonsense(1)|Complex - frameshift(1)	p.0?(8)|p.?(5)|p.N200fs*4(1)|p.L201P(1)|p.L201S(1)|p.E198fs*7(1)|p.L201fs*46(1)|p.P191fs*6(1)|p.G199fs*42(1)|p.L201*(1)	biliary_tract(5)|bone(4)|upper_aerodigestive_tract(2)|central_nervous_system(2)|oesophagus(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|pancreas(1)	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						c.(601-603)tTg>tAg	Other conserved DNA damage response genes	tumor protein p53							121.0	108.0	112.0					17																	7578247		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578247A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.602T>A	17.37:g.7578247A>T	ENSP00000269305:p.Leu201*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.L201*|TP53_ENST00000269305.4_Nonsense_Mutation_p.L201*|TP53_ENST00000413465.2_Nonsense_Mutation_p.L201*|TP53_ENST00000445888.2_Nonsense_Mutation_p.L201*|TP53_ENST00000455263.2_Nonsense_Mutation_p.L201*	p.L201*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	734	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	201		L -> F (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; somatic mutation).|LR -> FC (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.602T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.410235	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	-1.14	0.09741	.	0.429411	0.24229	N	0.040372	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0503	0.2449	0.00197	0.374:0.1415:0.2232:0.2612	.	.	.	.	X	201;201;201;201;201;201;190;108;69;108;69	.	ENSP00000269305:L201X	L	-	2	0	TP53	7518972	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.120000	0.10660	-0.188000	0.10499	0.533000	0.62120	TTG		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	64	0	0	0	0.062417	0	18	64				
GRID2	2895	broad.mit.edu	37	4	94006200	94006200	+	Missense_Mutation	SNP	C	C	T	rs200490934		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:94006200C>T	ENST00000282020.4	+	3	557	c.299C>T	c.(298-300)aCg>aTg	p.T100M	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	100					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)		ATTGGCTGCACGTCAGCAGGA	0.522																																						ENST00000282020.4																			0				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						c.(298-300)aCg>aTg		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						106.0	85.0	92.0					4																	94006200		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.chr4:94006200C>T	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.299C>T	4.37:g.94006200C>T	ENSP00000282020:p.Thr100Met					GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	p.T100M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	3	557	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	100					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.299C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319233	0.41096	.	.	ENSG00000152208	ENST00000282020	D	0.82984	-1.67	5.12	5.12	0.69794	Extracellular ligand-binding receptor (1);	0.049364	0.85682	D	0.000000	T	0.64011	0.2560	N	0.01352	-0.895	0.80722	D	1	B;B	0.20368	0.008;0.044	B;B	0.14578	0.002;0.011	T	0.62163	-0.6912	10	0.42905	T	0.14	.	18.9145	0.92499	0.0:1.0:0.0:0.0	.	100;41	O43424;B4DYB9	GRID2_HUMAN;.	M	100	ENSP00000282020:T100M	ENSP00000282020:T100M	T	+	2	0	GRID2	94225223	0.987000	0.35691	0.963000	0.40424	0.980000	0.70556	2.566000	0.45948	2.553000	0.86117	0.655000	0.94253	ACG		0.522	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			6	99	0	0	0	0.029380	0	6	99				
OR4K1	79544	broad.mit.edu	37	14	20404174	20404174	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr14:20404174G>T	ENST00000285600.4	+	1	408	c.349G>T	c.(349-351)Gct>Tct	p.A117S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	117						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTTGCTTGTAGCTATGGCATA	0.418																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(349-351)Gct>Tct		olfactory receptor, family 4, subfamily K, member 1							139.0	134.0	136.0					14																	20404174		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404174G>T		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.349G>T	14.37:g.20404174G>T	ENSP00000285600:p.Ala117Ser						p.A117S	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	408	+	all_cancers(95;0.00108)		117					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.349G>T	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	8.097	0.775793	0.16051	.	.	ENSG00000155249	ENST00000285600	T	0.03065	4.06	4.94	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.110897	0.40385	N	0.001120	T	0.03520	0.0101	N	0.26130	0.795	0.09310	N	0.999999	B	0.14438	0.01	B	0.18263	0.021	T	0.40156	-0.9578	10	0.29301	T	0.29	.	12.3594	0.55194	0.0:0.0:0.83:0.17	.	117	Q8NGD4	OR4K1_HUMAN	S	117	ENSP00000285600:A117S	ENSP00000285600:A117S	A	+	1	0	OR4K1	19474014	0.003000	0.15002	0.996000	0.52242	0.994000	0.84299	1.371000	0.34250	1.272000	0.44329	0.655000	0.94253	GCT		0.418	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			16	163	1	0	0.000422831	0.028581	0.000473169	16	163				
PTPRJ	5795	broad.mit.edu	37	11	48181492	48181492	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:48181492A>T	ENST00000418331.2	+	22	3801	c.3449A>T	c.(3448-3450)gAg>gTg	p.E1150V		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1150	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACCAAATGTGAGGAGTATTGG	0.423																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3448-3450)gAg>gTg		protein tyrosine phosphatase, receptor type, J							116.0	105.0	109.0					11																	48181492		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48181492A>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3449A>T	11.37:g.48181492A>T	ENSP00000400010:p.Glu1150Val						p.E1150V	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			22	3801	+			1150			Tyrosine-protein phosphatase.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.3449A>T	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385017	0.82792	.	.	ENSG00000149177	ENST00000418331	D	0.84146	-1.81	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.	.	.	.	D	0.90752	0.7097	M	0.64260	1.97	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.91605	0.5298	9	0.87932	D	0	.	13.9989	0.64421	1.0:0.0:0.0:0.0	.	1150	Q12913	PTPRJ_HUMAN	V	1150	ENSP00000400010:E1150V	ENSP00000400010:E1150V	E	+	2	0	PTPRJ	48138068	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	8.580000	0.90784	2.196000	0.70406	0.529000	0.55759	GAG		0.423	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			16	148	0	0	0	0.033300	0	16	148				
KLHL1	57626	broad.mit.edu	37	13	70456501	70456501	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:70456501T>A	ENST00000377844.4	-	5	1900	c.1141A>T	c.(1141-1143)Atg>Ttg	p.M381L	KLHL1_ENST00000545028.1_Missense_Mutation_p.M188L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	381					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTGACCCACATCATCAATGCA	0.443																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1141-1143)Atg>Ttg		kelch-like family member 1							174.0	139.0	151.0					13																	70456501		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70456501T>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1141A>T	13.37:g.70456501T>A	ENSP00000367075:p.Met381Leu					KLHL1_ENST00000545028.1_Missense_Mutation_p.M188L	p.M381L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	5	1900	-		Breast(118;0.000162)	381					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1141A>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068075	0.36470	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.68181	-0.31;-0.31	5.03	5.03	0.67393	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	N	0.00972	-1.085	0.36610	D	0.875148	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.39035	-0.9633	10	0.27785	T	0.31	.	11.107	0.48210	0.0:0.0:0.1547:0.8453	.	381;381	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	L	381;188	ENSP00000367075:M381L;ENSP00000439602:M188L	ENSP00000367075:M381L	M	-	1	0	KLHL1	69354502	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.044000	0.57361	2.017000	0.59298	0.482000	0.46254	ATG		0.443	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		27	110	0	0	0	0.024334	0	27	110				
WISP3	8838	broad.mit.edu	37	6	112375526	112375526	+	5'UTR	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:112375526T>C	ENST00000368666.2	+	0	252				WISP3_ENST00000230529.5_Intron|WISP3_ENST00000361714.1_Missense_Mutation_p.L7P|WISP3_ENST00000483439.1_3'UTR|WISP3_ENST00000604763.1_Intron	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3						cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CGGCGACTTCTCTACCCCTCA	0.607																																						ENST00000361714.1																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(19-21)cTc>cCc		WNT1 inducible signaling pathway protein 3							186.0	171.0	176.0					6																	112375526		2203	4300	6503	SO:0001623	5_prime_UTR_variant	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112375526T>C	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.-35T>C	6.37:g.112375526T>C						WISP3_ENST00000368666.2_5'UTR|WISP3_ENST00000483439.1_3'UTR|WISP3_ENST00000230529.5_Intron|WISP3_ENST00000604763.1_Intron	p.L7P			O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	1	65	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	0					Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	c.20T>C	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.139426	0.37728	.	.	ENSG00000112761	ENST00000361714	T	0.80304	-1.36	3.94	-0.265	0.12946	.	.	.	.	.	T	0.35422	0.0931	N	0.08118	0	0.20563	N	0.999887	B	0.14012	0.009	B	0.12156	0.007	T	0.27226	-1.0080	9	0.87932	D	0	-30.2575	0.8927	0.01257	0.1526:0.1951:0.3138:0.3384	.	7	O95389-2	.	P	7	ENSP00000354734:L7P	ENSP00000354734:L7P	L	+	2	0	WISP3	112482219	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.279000	0.18771	-0.248000	0.09583	-0.321000	0.08615	CTC		0.607	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		22	268	0	0	0	0.076483	0	22	268				
ECT2L	345930	broad.mit.edu	37	6	139134477	139134477	+	Splice_Site	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:139134477G>T	ENST00000423192.1	+	2	227	c.66G>T	c.(64-66)caG>caT	p.Q22H	ECT2L_ENST00000367682.2_Splice_Site_p.Q22H|ECT2L_ENST00000541398.1_5'Flank			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	22							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TAAATAGACAGGTAAGTTACA	0.378			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.e2+1		epithelial cell transforming sequence 2 oncogene-like							73.0	67.0	69.0					6																	139134477		1824	4082	5906	SO:0001630	splice_region_variant	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139134477G>T		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.66+1G>T	6.37:g.139134477G>T						ECT2L_ENST00000367682.2_Splice_Site_p.Q22_splice	p.Q22_splice			Q008S8	ECT2L_HUMAN			2	227	+			22					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Splice_Site	SNP	ENST00000423192.1	37	c.66_splice	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010027	0.35415	.	.	ENSG00000203734	ENST00000423192;ENST00000401414;ENST00000367682	T;T;T	0.62364	0.03;0.77;0.03	6.08	5.22	0.72569	.	.	.	.	.	T	0.54224	0.1845	N	0.22421	0.69	0.80722	D	1	D	0.71674	0.998	P	0.61397	0.888	T	0.64546	-0.6382	9	0.87932	D	0	-4.9253	12.6666	0.56846	0.0769:0.0:0.9231:0.0	.	22	Q008S8	ECT2L_HUMAN	H	22	ENSP00000387388:Q22H;ENSP00000385187:Q22H;ENSP00000356655:Q22H	ENSP00000356655:Q22H	Q	+	3	2	ECT2L	139176170	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	3.307000	0.51888	1.597000	0.50072	0.591000	0.81541	CAG		0.378	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706	Missense_Mutation	9	93	1	0	4.68919e-08	0.069234	5.73937e-08	9	93				
ZFP91	80829	broad.mit.edu	37	11	58384739	58384739	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:58384739G>A	ENST00000316059.6	+	11	1444	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.D425N	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	425					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ACATGATGCAGACTCCTTCTA	0.428																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1273-1275)Gac>Aac		ZFP91 zinc finger protein							92.0	86.0	88.0					11																	58384739		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58384739G>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1273G>A	11.37:g.58384739G>A	ENSP00000339030:p.Asp425Asn					ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.D425N	p.D425N	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			11	1444	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	425					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.1273G>A	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648440	0.87958	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.60548	0.18	6.16	6.16	0.99307	Zinc finger, C2H2 (1);	0.059189	0.64402	D	0.000003	T	0.68081	0.2962	L	0.33624	1.015	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.66084	0.941;0.936	T	0.68269	-0.5453	10	0.72032	D	0.01	-21.0828	19.6313	0.95704	0.0:0.0:1.0:0.0	.	425;425	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	N	425	ENSP00000339030:D425N	ENSP00000374569:D425N	D	+	1	0	ZFP91	58141315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	GAC		0.428	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		11	132	0	0	0	0.080935	0	11	132				
DACH1	1602	broad.mit.edu	37	13	72204713	72204713	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:72204713T>A	ENST00000359684.2	-	3	1106	c.1107A>T	c.(1105-1107)gaA>gaT	p.E369D	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000305425.4_Missense_Mutation_p.E369D|DACH1_ENST00000313174.7_Missense_Mutation_p.E369D			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	369	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGTCCCCGTTTTCAGAGTCTG	0.378																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1105-1107)gaA>gaT		dachshund homolog 1 (Drosophila)							249.0	225.0	233.0					13																	72204713		1855	4099	5954	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72204713T>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1107A>T	13.37:g.72204713T>A	ENSP00000352712:p.Glu369Asp					DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.E369D|DACH1_ENST00000313174.7_Missense_Mutation_p.E369D	p.E369D	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	3	1529	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	367			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1107A>T		.	.	.	.	.	.	.	.	.	.	T	14.86	2.662674	0.47572	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000359684;ENST00000377826	T;T;T	0.81415	1.12;1.27;-1.49	6.16	0.124	0.14714	.	0.047912	0.85682	D	0.000000	T	0.63616	0.2526	L	0.28400	0.85	0.80722	D	1	P;B	0.34412	0.453;0.037	B;B	0.33890	0.172;0.024	T	0.49744	-0.8907	10	0.17832	T	0.49	-13.2489	7.588	0.28004	0.0:0.2838:0.1099:0.6063	.	367;367	Q9UI36-3;Q9UI36-2	.;.	D	369	ENSP00000304994:E369D;ENSP00000318506:E369D;ENSP00000352712:E369D	ENSP00000304994:E369D	E	-	3	2	DACH1	71102714	0.998000	0.40836	1.000000	0.80357	0.957000	0.61999	0.556000	0.23438	0.135000	0.18707	0.528000	0.53228	GAA		0.378	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		46	473	0	0	0	0.048971	0	46	473				
SHROOM1	134549	broad.mit.edu	37	5	132158993	132158993	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:132158993G>A	ENST00000378679.3	-	9	2979	c.2175C>T	c.(2173-2175)cgC>cgT	p.R725R	SHROOM1_ENST00000319854.3_Silent_p.R725R|SHROOM1_ENST00000378676.1_Silent_p.R656R|SHROOM1_ENST00000488072.1_5'UTR	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	725	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGCGGCGCACGCGCGCCAGGC	0.692																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(2173-2175)cgC>cgT		shroom family member 1							14.0	18.0	17.0					5																	132158993		2124	4178	6302	SO:0001819	synonymous_variant	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132158993G>A	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2175C>T	5.37:g.132158993G>A						SHROOM1_ENST00000319854.3_Silent_p.R725R|SHROOM1_ENST00000488072.1_5'UTR|SHROOM1_ENST00000378676.1_Silent_p.R656R	p.R725R	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	2979	-			725			ASD2.		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Silent	SNP	ENST00000378679.3	37	c.2175C>T	CCDS54902.1																																																																																				0.692	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		6	70	0	0	0	0.021553	0	6	70				
HPS3	84343	broad.mit.edu	37	3	148880620	148880620	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:148880620G>C	ENST00000296051.2	+	13	2576	c.2436G>C	c.(2434-2436)aaG>aaC	p.K812N	HPS3_ENST00000460120.1_Missense_Mutation_p.K647N	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	812					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.K812N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GATTGTCTAAGAGGCAGCCTC	0.423									Hermansky-Pudlak syndrome																													ENST00000296051.2																			1	Substitution - Missense(1)	p.K812N(1)	upper_aerodigestive_tract(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(2434-2436)aaG>aaC		Hermansky-Pudlak syndrome 3							125.0	121.0	122.0					3																	148880620		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148880620G>C	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2436G>C	3.37:g.148880620G>C	ENSP00000296051:p.Lys812Asn					HPS3_ENST00000460120.1_Missense_Mutation_p.K647N	p.K812N	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		13	2576	+			812					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.2436G>C	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	8.781	0.928134	0.18131	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.63913	-0.07;-0.06	5.87	1.97	0.26223	.	0.660808	0.16809	N	0.198650	T	0.40119	0.1104	N	0.24115	0.695	0.40746	D	0.982875	B;B	0.13594	0.008;0.003	B;B	0.14578	0.011;0.011	T	0.10451	-1.0629	10	0.25106	T	0.35	-2.0851	3.2169	0.06702	0.1403:0.2563:0.471:0.1324	.	647;812	G5E9V4;Q969F9	.;HPS3_HUMAN	N	812;647	ENSP00000296051:K812N;ENSP00000418230:K647N	ENSP00000296051:K812N	K	+	3	2	HPS3	150363310	0.532000	0.26346	0.222000	0.23844	0.671000	0.39405	1.569000	0.36428	0.076000	0.16826	0.563000	0.77884	AAG		0.423	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		22	152	0	0	0	0.083992	0	22	152				
NEMF	9147	broad.mit.edu	37	14	50312960	50312960	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr14:50312960C>T	ENST00000298310.5	-	4	704	c.255G>A	c.(253-255)cgG>cgA	p.R85R	NEMF_ENST00000546046.1_Silent_p.R85R|NEMF_ENST00000556672.1_Silent_p.R85R|NEMF_ENST00000545773.1_Intron|AL627171.1_ENST00000358799.1_5'Flank			O60524	NEMF_HUMAN	nuclear export mediator factor	85					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TGACTAATCTCCGACTCTTCA	0.343																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(253-255)cgG>cgA		nuclear export mediator factor							108.0	103.0	105.0					14																	50312960		2203	4300	6503	SO:0001819	synonymous_variant	9147					cytoplasm|nucleus		g.chr14:50312960C>T	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.255G>A	14.37:g.50312960C>T						NEMF_ENST00000546046.1_Silent_p.R85R|NEMF_ENST00000556672.1_Silent_p.R85R|NEMF_ENST00000545773.1_Intron	p.R85R			O60524	NEMF_HUMAN			4	704	-			85					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	ENST00000298310.5	37	c.255G>A	CCDS9694.1																																																																																				0.343	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		5	115	0	0	0	0.014758	0	5	115				
CERS4	79603	broad.mit.edu	37	19	8321168	8321168	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:8321168C>A	ENST00000251363.5	+	7	817	c.517C>A	c.(517-519)Cag>Aag	p.Q173K	CERS4_ENST00000559450.1_Missense_Mutation_p.Q173K|CERS4_ENST00000558331.1_Missense_Mutation_p.Q122K|CERS4_ENST00000559336.1_Missense_Mutation_p.Q173K|CERS4_ENST00000595722.1_3'UTR	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	173	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GTACCCAAACCAGGTGAGTGG	0.572																																						ENST00000558331.1																			0											c.(364-366)Cag>Aag		ceramide synthase 4							242.0	179.0	200.0					19																	8321168		2203	4300	6503	SO:0001583	missense	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8321168C>A		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.517C>A	19.37:g.8321168C>A	ENSP00000251363:p.Gln173Lys					CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Missense_Mutation_p.Q173K|CERS4_ENST00000559336.1_Missense_Mutation_p.Q173K|CERS4_ENST00000251363.5_Missense_Mutation_p.Q173K	p.Q122K			Q9HA82	CERS4_HUMAN			7	823	+			173					D6W665	Missense_Mutation	SNP	ENST00000251363.5	37	c.364C>A	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870674	0.51695	.	.	ENSG00000090661	ENST00000251363	D	0.85013	-1.93	4.33	4.33	0.51752	TRAM/LAG1/CLN8 homology domain (3);	0.272836	0.37577	N	0.002025	D	0.93083	0.7798	M	0.90922	3.16	0.54753	D	0.999986	P;D	0.89917	0.87;1.0	P;D	0.97110	0.657;1.0	D	0.93625	0.6951	10	0.51188	T	0.08	-35.928	12.321	0.54985	0.0:1.0:0.0:0.0	.	173;173	Q53HF9;Q9HA82	.;CERS4_HUMAN	K	173	ENSP00000251363:Q173K	ENSP00000251363:Q173K	Q	+	1	0	CERS4	8227168	0.998000	0.40836	0.810000	0.32431	0.121000	0.20230	4.922000	0.63404	1.952000	0.56665	0.561000	0.74099	CAG		0.572	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		5	31	1	0	3.59834e-05	0.021553	4.16556e-05	5	31				
FOXN1	8456	broad.mit.edu	37	17	26862068	26862068	+	Silent	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:26862068G>T	ENST00000226247.2	+	7	1508	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L	FOXN1_ENST00000579795.1_Silent_p.L493L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	493					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACTCGCCTCTGCCTGCCCACA	0.692																																						ENST00000226247.2																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1477-1479)ctG>ctT		forkhead box N1							35.0	34.0	34.0					17																	26862068		2203	4300	6503	SO:0001819	synonymous_variant	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26862068G>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1479G>T	17.37:g.26862068G>T						FOXN1_ENST00000579795.1_Silent_p.L493L	p.L493L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN			7	1508	+	Lung NSC(42;0.00431)		493					B2R9Q7|O15352	Silent	SNP	ENST00000226247.2	37	c.1479G>T	CCDS11232.1																																																																																				0.692	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			25	68	1	0	1.1804e-14	0.091800	1.53256e-14	25	68				
CLCN2	1181	broad.mit.edu	37	3	184071144	184071144	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:184071144C>T	ENST00000265593.4	-	17	2093	c.1922G>A	c.(1921-1923)aGc>aAc	p.S641N	CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.S624N|CLCN2_ENST00000457512.1_Missense_Mutation_p.S641N|CLCN2_ENST00000434054.2_Missense_Mutation_p.S597N|CLCN2_ENST00000475279.1_5'Flank|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	641	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCGGGCTGGGCTCAGCTGGGC	0.627																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1921-1923)aGc>aAc		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						34.0	36.0	35.0					3																	184071144		2203	4299	6502	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184071144C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1922G>A	3.37:g.184071144C>T	ENSP00000265593:p.Ser641Asn					CLCN2_ENST00000457512.1_Missense_Mutation_p.S641N|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.S624N|CLCN2_ENST00000434054.2_Missense_Mutation_p.S597N|EIF2B5_ENST00000444495.1_Intron	p.S641N	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	2093	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		641			CBS 1.		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.1922G>A	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	19.14	3.770367	0.69992	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.62	5.62	0.85841	Cystathionine beta-synthase, core (1);	0.079373	0.85682	D	0.000000	D	0.92932	0.7751	M	0.66939	2.045	0.80722	D	1	P;P;P;P;P	0.52316	0.952;0.917;0.95;0.917;0.952	P;P;P;P;P	0.57846	0.678;0.678;0.828;0.678;0.678	D	0.92453	0.5971	10	0.49607	T	0.09	-23.4314	19.2676	0.93996	0.0:1.0:0.0:0.0	.	597;641;624;641;597	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	N	641;624;597;641	ENSP00000265593:S641N;ENSP00000345056:S624N;ENSP00000400425:S597N;ENSP00000391928:S641N	ENSP00000265593:S641N	S	-	2	0	CLCN2	185553838	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.619000	0.67729	2.651000	0.90000	0.563000	0.77884	AGC		0.627	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			16	79	0	0	0	0.024245	0	16	79				
PKHD1L1	93035	broad.mit.edu	37	8	110445377	110445377	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:110445377G>T	ENST00000378402.5	+	28	3376	c.3272G>T	c.(3271-3273)gGa>gTa	p.G1091V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1091	IPT/TIG 4.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGGGTTCTGGATTTTCTCCT	0.333										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(3271-3273)gGa>gTa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							253.0	244.0	247.0					8																	110445377		1837	4080	5917	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110445377G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3272G>T	8.37:g.110445377G>T	ENSP00000367655:p.Gly1091Val	HNSCC(38;0.096)					p.G1091V	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		28	3376	+			1091			IPT/TIG 4.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.3272G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606050	0.66445	.	.	ENSG00000205038	ENST00000378402	T	0.79845	-1.31	5.51	4.62	0.57501	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.065055	0.64402	D	0.000011	T	0.80586	0.4651	M	0.81942	2.565	0.53005	D	0.999969	B	0.24132	0.098	B	0.26310	0.068	T	0.80432	-0.1385	10	0.87932	D	0	.	10.7984	0.46474	0.0919:0.0:0.9081:0.0	.	1091	Q86WI1	PKHL1_HUMAN	V	1091	ENSP00000367655:G1091V	ENSP00000367655:G1091V	G	+	2	0	PKHD1L1	110514553	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.617000	0.54181	2.746000	0.94184	0.655000	0.94253	GGA		0.333	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		35	497	1	0	9.62906e-15	0.086207	1.25713e-14	35	497				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						ENST00000435989.2																			2	Substitution - coding silent(2)	p.S332S(2)	kidney(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(994-996)tcG>tcC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	p.S332S	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1230	-			332					A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		2	7	0	0	0	0.004672	0	2	7				
ANK2	287	broad.mit.edu	37	4	114209630	114209630	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:114209630C>T	ENST00000357077.4	+	20	2318	c.2265C>T	c.(2263-2265)aaC>aaT	p.N755N	ANK2_ENST00000394537.3_Silent_p.N755N|ANK2_ENST00000264366.6_Silent_p.N755N|ANK2_ENST00000506722.1_Silent_p.N734N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	755					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAAATGTTAACGCAAAAACCA	0.373																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(2263-2265)aaC>aaT		ankyrin 2, neuronal							87.0	84.0	85.0					4																	114209630		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114209630C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2265C>T	4.37:g.114209630C>T						ANK2_ENST00000264366.6_Silent_p.N755N|ANK2_ENST00000506722.1_Silent_p.N734N|ANK2_ENST00000394537.3_Silent_p.N755N	p.N755N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	20	2318	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	755					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.2265C>T	CCDS3702.1																																																																																				0.373	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		15	68	0	0	0	0.024245	0	15	68				
WIPF1	7456	broad.mit.edu	37	2	175450340	175450340	+	Splice_Site	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:175450340C>T	ENST00000392547.2	-	2	62		c.e2-1		WIPF1_ENST00000359761.3_Splice_Site|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409415.3_Splice_Site|WIPF1_ENST00000272746.5_Splice_Site|WIPF1_ENST00000409891.1_Splice_Site|WIPF1_ENST00000392546.2_Splice_Site|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000410117.1_Splice_Site|AC018890.6_ENST00000412835.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1						actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GCTGATAAATCTGGAAAAACA	0.493																																						ENST00000392547.2																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.e2-1		WAS/WASL interacting protein family, member 1							23.0	22.0	22.0					2																	175450340		2203	4299	6502	SO:0001630	splice_region_variant	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175450340C>T	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.38-1G>A	2.37:g.175450340C>T						WIPF1_ENST00000409415.3_Splice_Site|WIPF1_ENST00000409891.1_Splice_Site|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Splice_Site|WIPF1_ENST00000392546.2_Splice_Site|AC018890.6_ENST00000412835.1_RNA|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000272746.5_Splice_Site|WIPF1_ENST00000410117.1_Splice_Site		NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN			2	62	-								B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Splice_Site	SNP	ENST00000392547.2	37		CCDS2260.1																																																																																				0.493	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387	Intron	8	57	0	0	0	0.047766	0	8	57				
ZNF519	162655	broad.mit.edu	37	18	14105333	14105333	+	Silent	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr18:14105333T>C	ENST00000590202.1	-	3	1358	c.1206A>G	c.(1204-1206)aaA>aaG	p.K402K	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	402					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						ACTTGAAAGGTTTCTCTCCAG	0.403																																						ENST00000590202.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(1204-1206)aaA>aaG		zinc finger protein 519							97.0	98.0	97.0					18																	14105333		2203	4300	6503	SO:0001819	synonymous_variant	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105333T>C	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1206A>G	18.37:g.14105333T>C						ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	p.K402K	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN			3	1358	-			402						Silent	SNP	ENST00000590202.1	37	c.1206A>G	CCDS32797.1																																																																																				0.403	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		6	216	0	0	0	0.038147	0	6	216				
LRRC8E	80131	broad.mit.edu	37	19	7964965	7964965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:7964965C>T	ENST00000306708.6	+	3	1659	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*	AC010336.1_ENST00000539278.1_Nonsense_Mutation_p.W101*|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	520					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GCTTTTCCCCCAGGAGCTAGC	0.657																																						ENST00000539278.1																			0											c.(301-303)tGg>tAg									22.0	20.0	21.0					19																	7964965		2201	4300	6501	SO:0001587	stop_gained	80131							g.chr19:7964965C>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1558C>T	19.37:g.7964965C>T	ENSP00000306524:p.Gln520*					LRRC8E_ENST00000306708.6_Nonsense_Mutation_p.Q520*	p.W101*							1	3462	-								B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Nonsense_Mutation	SNP	ENST00000306708.6	37	c.302G>A	CCDS12189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	55|55	24.446358|24.446358	0.99960|0.99960	.|.	.|.	ENSG00000171017|ENSG00000214248	ENST00000306708|ENST00000539278	.|.	.|.	.|.	4.78|4.78	3.69|3.69	0.42338|0.42338	.|.	0.410472|.	0.26765|.	N|.	0.022609|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.22706|0.12766	T|T	0.39|0.61	.|.	12.9493|12.9493	0.58389|0.58389	0.0:0.8371:0.1629:0.0|0.0:0.8371:0.1629:0.0	.|.	.|.	.|.	.|.	X|X	520|101	.|.	ENSP00000306524:Q520X|ENSP00000441047:W101X	Q|W	+|-	1|2	0|0	LRRC8E|AC010336.2	7870965|7870965	0.000000|0.000000	0.05858|0.05858	0.284000|0.284000	0.24805|0.24805	0.506000|0.506000	0.33950|0.33950	0.981000|0.981000	0.29526|0.29526	2.491000|2.491000	0.84063|0.84063	0.650000|0.650000	0.86243|0.86243	CAG|TGG		0.657	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		5	32	0	0	0	0.021553	0	5	32				
GRHL3	57822	broad.mit.edu	37	1	24669215	24669215	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:24669215G>A	ENST00000350501.5	+	10	1365	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	GRHL3_ENST00000356046.2_Missense_Mutation_p.R367Q|GRHL3_ENST00000236255.4_Missense_Mutation_p.R418Q|GRHL3_ENST00000361548.4_Missense_Mutation_p.R413Q|GRHL3_ENST00000342072.4_Missense_Mutation_p.R320Q	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	413					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R418Q(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GATGACGAGCGGAAGCAGTTC	0.627																																						ENST00000361548.4																			1	Substitution - Missense(1)	p.R418Q(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1237-1239)cGg>cAg		grainyhead-like 3 (Drosophila)							92.0	92.0	92.0					1																	24669215		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24669215G>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1238G>A	1.37:g.24669215G>A	ENSP00000288955:p.Arg413Gln					GRHL3_ENST00000350501.5_Missense_Mutation_p.R413Q|GRHL3_ENST00000342072.4_Missense_Mutation_p.R320Q|GRHL3_ENST00000236255.4_Missense_Mutation_p.R418Q|GRHL3_ENST00000356046.2_Missense_Mutation_p.R367Q	p.R413Q	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	10	1468	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	413					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1238G>A	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	36	5.707882	0.96821	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	4.96	4.96	0.65561	.	0.182554	0.46145	D	0.000309	T	0.41650	0.1168	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.977;0.977	T	0.25606	-1.0127	10	0.66056	D	0.02	-25.8636	17.3827	0.87408	0.0:0.0:1.0:0.0	.	367;418;413	A2A297;Q8TE85-2;G3XAF0	.;.;.	Q	413;320;413;367;418	ENSP00000354943:R413Q;ENSP00000340543:R320Q;ENSP00000288955:R413Q;ENSP00000348333:R367Q;ENSP00000236255:R418Q	ENSP00000236255:R418Q	R	+	2	0	GRHL3	24541802	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.258000	0.72487	2.585000	0.87301	0.655000	0.94253	CGG		0.627	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		16	191	0	0	0	0.033300	0	16	191				
PCDHGA1	56114	broad.mit.edu	37	5	140710445	140710445	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:140710445G>A	ENST00000517417.1	+	1	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R65H|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGAGTCCGCATCGTCTCC	0.592																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(193-195)cGc>cAc									108.0	115.0	112.0					5																	140710445		2203	4300	6503	SO:0001583	missense	56114							g.chr5:140710445G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.194G>A	5.37:g.140710445G>A	ENSP00000431083:p.Arg65His					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R65H	p.R65H	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	194	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.194G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223474	0.58668	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.38240	1.15;1.15	4.37	3.49	0.39957	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.139828	0.32987	N	0.005405	T	0.49372	0.1553	M	0.88105	2.93	0.27252	N	0.958869	P;P	0.50710	0.923;0.938	P;P	0.47102	0.505;0.537	T	0.54569	-0.8274	10	0.87932	D	0	.	10.1086	0.42548	0.168:0.0:0.832:0.0	.	65;65	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	H	65	ENSP00000431083:R65H;ENSP00000367345:R65H	ENSP00000367345:R65H	R	+	2	0	PCDHGA1	140690629	0.919000	0.31177	1.000000	0.80357	0.705000	0.40729	3.938000	0.56583	1.180000	0.42898	0.655000	0.94253	CGC		0.592	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		5	223	0	0	0	0.014758	0	5	223				
EXOC5	10640	broad.mit.edu	37	14	57676773	57676773	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr14:57676773T>G	ENST00000413566.2	-	16	1979	c.1620A>C	c.(1618-1620)ttA>ttC	p.L540F	EXOC5_ENST00000340918.7_Missense_Mutation_p.L475F	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	540					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TCATACAATTTAATGTCCTAG	0.269																																						ENST00000413566.2																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1618-1620)ttA>ttC		exocyst complex component 5							58.0	51.0	53.0					14																	57676773		1822	4061	5883	SO:0001583	missense	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57676773T>G	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.1620A>C	14.37:g.57676773T>G	ENSP00000389934:p.Leu540Phe					EXOC5_ENST00000340918.7_Missense_Mutation_p.L475F	p.L540F	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN			16	1979	-			540					B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	c.1620A>C	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521506	0.44866	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.51574	0.7;0.7	4.75	2.11	0.27256	.	0.334339	0.29260	N	0.012678	T	0.41766	0.1173	M	0.61703	1.905	0.52099	D	0.999945	P;B	0.36909	0.573;0.395	B;B	0.37943	0.232;0.261	T	0.37478	-0.9704	10	0.87932	D	0	-5.2658	5.7945	0.18379	0.0:0.345:0.0:0.655	.	475;540	F8W9B8;O00471	.;EXOC5_HUMAN	F	540;475	ENSP00000389934:L540F;ENSP00000342100:L475F	ENSP00000342100:L475F	L	-	3	2	EXOC5	56746526	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.979000	0.29500	0.733000	0.32492	0.402000	0.26972	TTA		0.269	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		6	30	0	0	0	0.021553	0	6	30				
UBLCP1	134510	broad.mit.edu	37	5	158710239	158710239	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:158710239C>T	ENST00000296786.6	+	10	1147	c.821C>T	c.(820-822)gCg>gTg	p.A274V		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	274	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.|Phosphatase.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTATGAAAGCGCACCTAAAT	0.299																																						ENST00000296786.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9						c.(820-822)gCg>gTg		ubiquitin-like domain containing CTD phosphatase 1							92.0	90.0	91.0					5																	158710239		2201	4294	6495	SO:0001583	missense	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158710239C>T	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.821C>T	5.37:g.158710239C>T	ENSP00000296786:p.Ala274Val						p.A274V	NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1147	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	274			FCP1 homology.		D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	c.821C>T	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198387	0.94997	.	.	ENSG00000164332	ENST00000296786	T	0.18338	2.22	5.55	5.55	0.83447	HAD-superfamily hydrolase, subfamily IIID (1);NLI interacting factor (3);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	P	0.53809	0.735	T	0.61510	-0.7048	10	0.87932	D	0	-13.4215	18.0566	0.89365	0.0:1.0:0.0:0.0	.	274	Q8WVY7	UBCP1_HUMAN	V	274	ENSP00000296786:A274V	ENSP00000296786:A274V	A	+	2	0	UBLCP1	158642817	1.000000	0.71417	0.969000	0.41365	0.983000	0.72400	7.418000	0.80167	2.768000	0.95171	0.655000	0.94253	GCG		0.299	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		16	120	0	0	0	0.028581	0	16	120				
CCDC6	8030	broad.mit.edu	37	10	61592406	61592406	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:61592406C>A	ENST00000263102.6	-	3	690	c.459G>T	c.(457-459)caG>caT	p.Q153H		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	153	5 X 29 AA tandem repeats.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CTTTCTCATGCTGCAACTGGA	0.398			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(457-459)caG>caT		coiled-coil domain containing 6							119.0	106.0	110.0					10																	61592406		2203	4300	6503	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61592406C>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.459G>T	10.37:g.61592406C>A	ENSP00000263102:p.Gln153His						p.Q153H	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	3	690	-			153			5 X 29 AA tandem repeats.		Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.459G>T	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622111	0.87460	.	.	ENSG00000108091	ENST00000263102	T	0.81330	-1.48	5.95	5.95	0.96441	.	0.101382	0.64402	D	0.000001	D	0.87888	0.6291	M	0.61703	1.905	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	D	0.87984	0.2745	10	0.66056	D	0.02	-18.9309	14.5329	0.67939	0.0:0.9286:0.0:0.0713	.	153	Q16204	CCDC6_HUMAN	H	153	ENSP00000263102:Q153H	ENSP00000263102:Q153H	Q	-	3	2	CCDC6	61262412	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.063000	0.30567	2.824000	0.97209	0.655000	0.94253	CAG		0.398	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		6	63	1	0	0.0215528	0.021553	0.0228149	6	63				
RGR	5995	broad.mit.edu	37	10	86012692	86012692	+	Silent	SNP	C	C	A	rs141356847		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:86012692C>A	ENST00000359452.4	+	4	488	c.450C>A	c.(448-450)ccC>ccA	p.P150P	RGR_ENST00000358110.5_Silent_p.P146P	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	146					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CAGCTCTGCCCCTTCTGGGTT	0.607																																					NSCLC(15;204 545 5889 6385 32445)	ENST00000359452.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						c.(448-450)ccC>ccA		retinal G protein coupled receptor							107.0	82.0	90.0					10																	86012692		2203	4300	6503	SO:0001819	synonymous_variant	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86012692C>A	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.450C>A	10.37:g.86012692C>A						RGR_ENST00000358110.5_Silent_p.P146P	p.P150P	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN			4	488	+			146					A6NKK7|Q96FC5	Silent	SNP	ENST00000359452.4	37	c.450C>A	CCDS7374.1																																																																																				0.607	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		9	112	1	0	5.16669e-11	0.080935	6.49289e-11	9	112				
SV2B	9899	broad.mit.edu	37	15	91769847	91769847	+	Silent	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:91769847C>A	ENST00000394232.1	+	2	824	c.354C>A	c.(352-354)gcC>gcA	p.A118A	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Silent_p.A118A	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	118					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGGTTTGGCCCTGATGGCCG	0.537																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(352-354)gcC>gcA		synaptic vesicle glycoprotein 2B							123.0	98.0	107.0					15																	91769847		2198	4298	6496	SO:0001819	synonymous_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91769847C>A	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.354C>A	15.37:g.91769847C>A						SV2B_ENST00000330276.4_Silent_p.A118A|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron	p.A118A	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		2	824	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		118					B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	c.354C>A	CCDS10370.1																																																																																				0.537	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		8	76	1	0	0.000442599	0.058154	0.000492942	8	76				
RD3	343035	broad.mit.edu	37	1	211654485	211654485	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:211654485G>A	ENST00000367002.4	-	2	1436	c.273C>T	c.(271-273)tcC>tcT	p.S91S	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	91					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GCCCACAATAGGATGGGTGGA	0.617																																						ENST00000367002.4																			0				central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(271-273)tcC>tcT		retinal degeneration 3							66.0	65.0	65.0					1																	211654485		2203	4300	6503	SO:0001819	synonymous_variant	343035				response to stimulus|visual perception			g.chr1:211654485G>A	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"""chromosome 1 open reading frame 36"""	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.273C>T	1.37:g.211654485G>A						RD3_ENST00000484910.1_Intron	p.S91S	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)	2	1436	-			91					A8K595	Silent	SNP	ENST00000367002.4	37	c.273C>T	CCDS1498.1																																																																																				0.617	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		17	45	0	0	0	0.038395	0	17	45				
PLG	5340	broad.mit.edu	37	6	161139390	161139390	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:161139390C>T	ENST00000308192.9	+	8	915	c.852C>T	c.(850-852)cgC>cgT	p.R284R		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	284	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAAACTATCGCGGGAATGTGG	0.493																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(850-852)cgC>cgT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						137.0	129.0	132.0					6																	161139390		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161139390C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.852C>T	6.37:g.161139390C>T							p.R284R	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	8	915	+			284			Kringle 3.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.852C>T	CCDS5279.1																																																																																				0.493	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		16	159	0	0	0	0.038395	0	16	159				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA22_ENST00000383907.1_RNA|SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			643253							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	12	1	0	0.00909568	0.009096	0.00980498	3	12				
ADH1B	125	broad.mit.edu	37	4	100232742	100232742	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:100232742C>T	ENST00000305046.8	-	7	967	c.900G>A	c.(898-900)caG>caA	p.Q300Q	ADH1B_ENST00000394887.3_Silent_p.Q260Q			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	300					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TTGAGAGGTTCTGGGAAGCAG	0.473																																						ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(898-900)caG>caA		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						220.0	210.0	213.0					4																	100232742		2203	4300	6503	SO:0001819	synonymous_variant	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100232742C>T	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.900G>A	4.37:g.100232742C>T						ADH1B_ENST00000394887.3_Silent_p.Q260Q	p.Q300Q			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	7	967	-			300					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	c.900G>A	CCDS34033.1																																																																																				0.473	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		19	260	0	0	0	0.055883	0	19	260				
CEMIP	57214	broad.mit.edu	37	15	81176553	81176553	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:81176553C>G	ENST00000394685.3	+	7	1074	c.655C>G	c.(655-657)Ctg>Gtg	p.L219V	KIAA1199_ENST00000220244.3_Missense_Mutation_p.L219V|KIAA1199_ENST00000356249.5_Missense_Mutation_p.L219V			Q8WUJ3	CEMIP_HUMAN		219					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAGTGAACGTCTGGTCCAGTA	0.468																																						ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(655-657)Ctg>Gtg		KIAA1199							153.0	145.0	148.0					15																	81176553		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81176553C>G																												ENST00000394685.3:c.655C>G	15.37:g.81176553C>G	ENSP00000378177:p.Leu219Val					KIAA1199_ENST00000220244.3_Missense_Mutation_p.L219V|KIAA1199_ENST00000356249.5_Missense_Mutation_p.L219V	p.L219V			Q8WUJ3	K1199_HUMAN			7	1074	+			219					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.655C>G	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620028	0.46736	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.78126	-1.15;-1.15;-1.15	5.38	4.47	0.54385	.	0.000000	0.56097	D	0.000023	D	0.87951	0.6307	M	0.88512	2.96	0.47245	D	0.999363	D	0.71674	0.998	D	0.75020	0.985	D	0.87731	0.2579	10	0.44086	T	0.13	-19.0277	10.0957	0.42473	0.0:0.8475:0.0:0.1525	.	219	Q8WUJ3	K1199_HUMAN	V	219	ENSP00000220244:L219V;ENSP00000378177:L219V;ENSP00000348583:L219V	ENSP00000220244:L219V	L	+	1	2	KIAA1199	78963608	0.996000	0.38824	0.783000	0.31826	0.152000	0.21847	3.344000	0.52174	1.262000	0.44165	0.643000	0.83706	CTG		0.468	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			4	274	0	0	0	0.009096	0	4	274				
TBCK	93627	broad.mit.edu	37	4	107016640	107016640	+	Splice_Site	SNP	T	T	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:107016640T>A	ENST00000273980.5	-	26	3017	c.2570A>T	c.(2569-2571)gAg>gTg	p.E857V	TBCK_ENST00000432496.2_Splice_Site_p.E857V|TBCK_ENST00000361687.4_Splice_Site_p.E794V|TBCK_ENST00000394706.3_Splice_Site_p.E818V|TBCK_ENST00000394708.2_Splice_Site_p.E857V					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TATACTTACCTCAGCTGTGTG	0.428																																						ENST00000273980.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.e26+1		TBC1 domain containing kinase							119.0	110.0	113.0					4																	107016640		2203	4300	6503	SO:0001630	splice_region_variant	93627					intracellular	Rab GTPase activator activity	g.chr4:107016640T>A		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.2571+1A>T	4.37:g.107016640T>A						TBCK_ENST00000394706.3_Splice_Site_p.E818_splice|TBCK_ENST00000394708.2_Splice_Site_p.E857_splice|TBCK_ENST00000432496.2_Splice_Site_p.E857_splice|TBCK_ENST00000361687.4_Splice_Site_p.E794_splice	p.E857_splice			Q8TEA7	TBCK_HUMAN			26	3017	-			857			Rhodanese.			Splice_Site	SNP	ENST00000273980.5	37	c.2571_splice	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	T	7.375	0.627603	0.14257	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.42	2.81	0.32909	Rhodanese-like (5);	0.294738	0.31031	N	0.008396	T	0.18635	0.0447	L	0.31845	0.965	0.33932	D	0.642151	B;B;B	0.18610	0.001;0.0;0.029	B;B;B	0.26969	0.014;0.001;0.075	T	0.13818	-1.0495	10	0.41790	T	0.15	.	7.7029	0.28634	0.112:0.0:0.2287:0.6593	.	857;818;794	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	V	857;857;794;818;857	ENSP00000273980:E857V;ENSP00000405847:E857V;ENSP00000355338:E794V;ENSP00000378196:E818V;ENSP00000378198:E857V	ENSP00000273980:E857V	E	-	2	0	TBCK	107236089	0.964000	0.33143	0.995000	0.50966	0.157000	0.22087	1.449000	0.35123	0.878000	0.35920	0.482000	0.46254	GAG		0.428	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115	Missense_Mutation	19	90	0	0	0	0.043863	0	19	90				
ZNF239	8187	broad.mit.edu	37	10	44053142	44053142	+	Missense_Mutation	SNP	G	G	A	rs372932484		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:44053142G>A	ENST00000306006.6	-	2	1038	c.386C>T	c.(385-387)tCg>tTg	p.S129L	ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000535642.1_Missense_Mutation_p.S129L|ZNF239_ENST00000426961.1_Missense_Mutation_p.S129L|ZNF239_ENST00000374446.2_Missense_Mutation_p.S129L	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S129L(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAACAATGGCGAGGCCAGTTC	0.413																																						ENST00000306006.6																			1	Substitution - Missense(1)	p.S129L(1)	skin(1)	endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(385-387)tCg>tTg		zinc finger protein 239		G	LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,3701		0,1,1850	109.0	100.0	103.0		386,386,386,386	0.6	0.0	10		103	1,8185		0,1,4092	no	missense,missense,missense,missense	ZNF239	NM_001099282.1,NM_001099283.1,NM_001099284.1,NM_005674.2	145,145,145,145	0,2,5942	AA,AG,GG		0.0122,0.027,0.0168	benign,benign,benign,benign	129/459,129/459,129/459,129/459	44053142	2,11886	1851	4093	5944	SO:0001583	missense	8187				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44053142G>A	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.386C>T	10.37:g.44053142G>A	ENSP00000307774:p.Ser129Leu					ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Missense_Mutation_p.S129L|ZNF239_ENST00000426961.1_Missense_Mutation_p.S129L|ZNF239_ENST00000535642.1_Missense_Mutation_p.S129L	p.S129L	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN			2	1038	-			129					Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	c.386C>T	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	G	9.793	1.178332	0.21787	2.7E-4	1.22E-4	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	4.37	0.546	0.17196	.	.	.	.	.	T	0.02848	0.0085	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.43343	-0.9397	9	0.48119	T	0.1	.	6.5624	0.22493	0.3967:0.0:0.6033:0.0	.	129	Q16600	ZN239_HUMAN	L	129	ENSP00000307774:S129L;ENSP00000363569:S129L;ENSP00000398202:S129L;ENSP00000443907:S129L	ENSP00000307774:S129L	S	-	2	0	ZNF239	43373148	.	.	0.000000	0.03702	0.036000	0.12997	.	.	0.108000	0.17862	-0.119000	0.15052	TCG		0.413	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			9	239	0	0	0	0.047766	0	9	239				
ZNF229	7772	broad.mit.edu	37	19	44933099	44933099	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:44933099C>A	ENST00000588931.1	-	6	2290	c.1857G>T	c.(1855-1857)caG>caT	p.Q619H	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.Q613H|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	619					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(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGACCCTCTGATGGATAA	0.547																																						ENST00000291187.4																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(1837-1839)caG>caT		zinc finger protein 229							79.0	85.0	83.0					19																	44933099		2175	4293	6468	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933099C>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1857G>T	19.37:g.44933099C>A	ENSP00000466519:p.Gln619His					ZNF229_ENST00000588931.1_Missense_Mutation_p.Q619H|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	p.Q613H	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	2161	-		Prostate(69;0.0352)	619					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.1839G>T	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380964	0.24944	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.39	-0.286	0.12862	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48589	0.1508	L	0.46567	1.45	0.20307	N	0.999912	D	0.89917	1.0	D	0.71414	0.973	T	0.32798	-0.9893	8	0.46703	T	0.11	.	4.3169	0.10997	0.0:0.5259:0.168:0.3061	.	619	Q9UJW7	ZN229_HUMAN	H	619	.	ENSP00000291187:Q619H	Q	-	3	2	ZNF229	49624939	0.000000	0.05858	0.001000	0.08648	0.155000	0.21991	0.163000	0.16520	-0.204000	0.10235	0.609000	0.83330	CAG		0.547	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		11	156	1	0	3.86212e-05	0.069234	4.44901e-05	11	156				
ABCC1	4363	broad.mit.edu	37	16	16101762	16101762	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:16101762C>T	ENST00000399410.3	+	2	313	c.138C>T	c.(136-138)ctC>ctT	p.L46L	ABCC1_ENST00000345148.5_Silent_p.L46L|ABCC1_ENST00000346370.5_Silent_p.L46L|ABCC1_ENST00000351154.5_Silent_p.L46L|ABCC1_ENST00000349029.5_Silent_p.L46L|ABCC1_ENST00000399408.2_Silent_p.L46L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	46					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GTTTTTACCTCTGGGCCTGTT	0.507																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(136-138)ctC>ctT		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						229.0	215.0	219.0					16																	16101762		1932	4137	6069	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16101762C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.138C>T	16.37:g.16101762C>T						ABCC1_ENST00000399410.3_Silent_p.L46L|ABCC1_ENST00000345148.5_Silent_p.L46L|ABCC1_ENST00000346370.5_Silent_p.L46L|ABCC1_ENST00000349029.5_Silent_p.L46L|ABCC1_ENST00000351154.5_Silent_p.L46L	p.L46L			P33527	MRP1_HUMAN			2	313	+			46					A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.138C>T	CCDS42122.1																																																																																				0.507	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		16	201	0	0	0	0.033300	0	16	201				
TTN	7273	broad.mit.edu	37	2	179638332	179638332	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:179638332T>G	ENST00000591111.1	-	32	7675	c.7451A>C	c.(7450-7452)cAa>cCa	p.Q2484P	TTN_ENST00000589042.1_Missense_Mutation_p.Q2484P|TTN_ENST00000360870.5_Missense_Mutation_p.Q2484P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q2484P|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q2438P|TTN_ENST00000342175.6_Missense_Mutation_p.Q2438P|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q2438P			Q8WZ42	TITIN_HUMAN	titin	12805	Ig-like 14.				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)			AGGCTTGATTTGTTCATCATT	0.428																																						ENST00000589042.1																			0				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						c.(7450-7452)cAa>cCa		titin							128.0	117.0	121.0					2																	179638332		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179638332T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7451A>C	2.37:g.179638332T>G	ENSP00000465570:p.Gln2484Pro					TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Q2484P|TTN_ENST00000591111.1_Missense_Mutation_p.Q2484P|TTN_ENST00000359218.5_Missense_Mutation_p.Q2438P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q2438P|TTN_ENST00000460472.2_Missense_Mutation_p.Q2438P|TTN_ENST00000342992.6_Missense_Mutation_p.Q2484P	p.Q2484P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		32	7675	-			2213			Ig-like 14.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.7451A>C		.	.	.	.	.	.	.	.	.	.	T	8.386	0.838735	0.16891	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37320	0.0999	N	0.01505	-0.83	0.26061	N	0.981355	B;B;B;B;B	0.21381	0.002;0.002;0.002;0.002;0.055	B;B;B;B;B	0.20577	0.005;0.005;0.005;0.003;0.03	T	0.36163	-0.9759	9	0.87932	D	0	.	12.0963	0.53757	0.0:0.0:0.1432:0.8568	.	2438;2438;2438;2484;2484	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	P	2484;2438;2438;2438;2438;2484	ENSP00000343764:Q2484P;ENSP00000434586:Q2438P;ENSP00000340554:Q2438P;ENSP00000352154:Q2438P;ENSP00000354117:Q2484P	ENSP00000340554:Q2438P	Q	-	2	0	TTN	179346577	1.000000	0.71417	0.994000	0.49952	0.783000	0.44284	3.460000	0.53028	2.232000	0.73038	0.528000	0.53228	CAA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	185	0	0	0	0.020292	0	14	185				
HIST1H3G	8355	broad.mit.edu	37	6	26271590	26271590	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:26271590G>A	ENST00000305910.3	-	1	22	c.23C>T	c.(22-24)gCa>gTa	p.A8V	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	8					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GGACTTGCGTGCAGTCTGCTT	0.567																																						ENST00000305910.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(22-24)gCa>gTa		histone cluster 1, H3g							26.0	29.0	28.0					6																	26271590		2196	4292	6488	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271590G>A	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.23C>T	6.37:g.26271590G>A	ENSP00000439660:p.Ala8Val						p.A8V	NM_003534.2	NP_003525.1	P68431	H31_HUMAN			1	22	-			8					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.23C>T	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	11.45	1.642033	0.29157	.	.	ENSG00000256018	ENST00000305910	T	0.46819	0.86	4.56	4.56	0.56223	.	.	.	.	.	T	0.58694	0.2140	.	.	.	0.41286	D	0.986947	.	.	.	.	.	.	T	0.65524	-0.6147	6	0.87932	D	0	.	16.7227	0.85414	0.0:0.0:1.0:0.0	.	.	.	.	V	8	ENSP00000439660:A8V	ENSP00000439660:A8V	A	-	2	0	HIST1H3G	26379569	1.000000	0.71417	0.063000	0.19743	0.132000	0.20833	9.642000	0.98461	2.265000	0.75225	0.563000	0.77884	GCA		0.567	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		5	66	0	0	0	0.021553	0	5	66				
KEAP1	9817	broad.mit.edu	37	19	10602764	10602764	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:10602764G>A	ENST00000171111.5	-	3	1361	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Missense_Mutation_p.R272C|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	272	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GAGTGGCAGCGCACGGCCCGC	0.617																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(814-816)Cgc>Tgc		kelch-like ECH-associated protein 1							58.0	57.0	58.0					19																	10602764		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602764G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.814C>T	19.37:g.10602764G>A	ENSP00000171111:p.Arg272Cys					KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.R272C	p.R272C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1361	-			272			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.814C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057012	0.93846	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.81163	-1.46;-1.46	5.61	5.61	0.85477	BTB/Kelch-associated (2);	0.049842	0.85682	D	0.000000	D	0.90222	0.6943	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.65773	0.938	D	0.91460	0.5188	10	0.87932	D	0	.	17.1459	0.86766	0.0:0.0:1.0:0.0	.	272	Q14145	KEAP1_HUMAN	C	272	ENSP00000171111:R272C;ENSP00000377245:R272C	ENSP00000171111:R272C	R	-	1	0	KEAP1	10463764	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.573000	0.98181	2.656000	0.90262	0.561000	0.74099	CGC		0.617	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		10	60	0	0	0	0.058154	0	10	60				
CYP4F12	66002	broad.mit.edu	37	19	15807026	15807026	+	Silent	SNP	G	G	A	rs374348891		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:15807026G>A	ENST00000550308.1	+	11	1685	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P	CYP4F12_ENST00000324632.10_Silent_p.P435P	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	435					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CTGTGTGGCCGGATCCTGAGG	0.557																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(1303-1305)ccG>ccA		cytochrome P450, family 4, subfamily F, polypeptide 12		G		1,4391		0,1,2195	104.0	106.0	105.0		1305	-4.6	0.9	19		105	0,8594		0,0,4297	no	coding-synonymous	CYP4F12	NM_023944.3		0,1,6492	AA,AG,GG		0.0,0.0228,0.0077		435/525	15807026	1,12985	2196	4297	6493	SO:0001819	synonymous_variant	66002							g.chr19:15807026G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1305G>A	19.37:g.15807026G>A						CYP4F12_ENST00000324632.9_Silent_p.P435P	p.P435P	NM_023944.3	NP_076433.3					11	1685	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	c.1305G>A	CCDS42517.1																																																																																				0.557	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			4	165	0	0	0	0.009096	0	4	165				
EYA2	2139	broad.mit.edu	37	20	45725801	45725801	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:45725801C>T	ENST00000327619.5	+	9	1256	c.882C>T	c.(880-882)taC>taT	p.Y294Y	EYA2_ENST00000357410.3_Silent_p.Y294Y|EYA2_ENST00000317304.6_Silent_p.Y294Y	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	294					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CATCCAGATACGGGAAGGTAA	0.423																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(880-882)taC>taT		eyes absent homolog 2 (Drosophila)							225.0	210.0	215.0					20																	45725801		2203	4300	6503	SO:0001819	synonymous_variant	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45725801C>T		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.882C>T	20.37:g.45725801C>T						EYA2_ENST00000357410.3_Silent_p.Y294Y|EYA2_ENST00000317304.6_Silent_p.Y294Y	p.Y294Y	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			9	1256	+		Myeloproliferative disorder(115;0.0241)	294					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	ENST00000327619.5	37	c.882C>T	CCDS13403.1																																																																																				0.423	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		29	275	0	0	0	0.034045	0	29	275				
CYP2S1	29785	broad.mit.edu	37	19	41712380	41712380	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:41712380C>G	ENST00000310054.4	+	9	1718	c.1502C>G	c.(1501-1503)aCg>aGg	p.T501R	CYP2S1_ENST00000542619.1_Missense_Mutation_p.T226R	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	501					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CACTCCACCACGCAGACCAGA	0.602																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(1501-1503)aCg>aGg		cytochrome P450, family 2, subfamily S, polypeptide 1							94.0	87.0	90.0					19																	41712380		2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41712380C>G	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.1502C>G	19.37:g.41712380C>G	ENSP00000308032:p.Thr501Arg					CYP2S1_ENST00000542619.1_Missense_Mutation_p.T226R	p.T501R	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			9	1718	+			501					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.1502C>G	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	C	9.904	1.207543	0.22205	.	.	ENSG00000167600	ENST00000310054;ENST00000542619	T;T	0.74209	-0.42;-0.82	3.27	-4.26	0.03755	.	.	.	.	.	T	0.41743	0.1172	N	0.08118	0	0.09310	N	1	B;B	0.28291	0.206;0.206	B;B	0.17722	0.019;0.019	T	0.24977	-1.0145	8	.	.	.	.	1.1054	0.01693	0.5018:0.1468:0.1458:0.2057	.	226;501	B4DJI0;Q96SQ9	.;CP2S1_HUMAN	R	501;226	ENSP00000308032:T501R;ENSP00000445299:T226R	.	T	+	2	0	CYP2S1	46404220	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.601000	0.05687	-1.079000	0.03113	-0.345000	0.07892	ACG		0.602	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			17	207	0	0	0	0.028581	0	17	207				
LILRA1	11024	broad.mit.edu	37	19	55105660	55105660	+	Splice_Site	SNP	A	A	T	rs373041889		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:55105660A>T	ENST00000251372.3	+	2	134		c.e2-1		LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Splice_Site	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 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)		CTGTCCTGCCAGCACCGAGGG	0.582																																						ENST00000453777.1																			0				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						c.e2-1		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							70.0	75.0	73.0					19																	55105660		2203	4300	6503	SO:0001630	splice_region_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55105660A>T	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.-48-1A>T	19.37:g.55105660A>T						LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Splice_Site|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_Intron		NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	2	122	+								O75018|Q3MJA6	Splice_Site	SNP	ENST00000251372.3	37		CCDS12901.1																																																																																				0.582	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	Intron	11	94	0	0	0	0.080935	0	11	94				
DSG2	1829	broad.mit.edu	37	18	29110982	29110982	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr18:29110982C>T	ENST00000261590.8	+	9	1256	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	349	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGAATCTTGACTTCAGTGTTA	0.343																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(1045-1047)gaC>gaT		desmoglein 2							103.0	93.0	96.0					18																	29110982		1829	4089	5918	SO:0001819	synonymous_variant	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29110982C>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1047C>T	18.37:g.29110982C>T							p.D349D	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		9	1256	+			349			Cadherin 3.		Q4KKU6	Silent	SNP	ENST00000261590.8	37	c.1047C>T	CCDS42423.1																																																																																				0.343	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		40	110	0	0	0	0.033182	0	40	110				
ADAMTS5	11096	broad.mit.edu	37	21	28296445	28296445	+	Missense_Mutation	SNP	C	C	T	rs75336666		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr21:28296445C>T	ENST00000284987.5	-	8	2841	c.2720G>A	c.(2719-2721)cGg>cAg	p.R907Q	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	907	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGCTAACTTCCGGTTTCCATC	0.527																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(2719-2721)cGg>cAg		ADAM metallopeptidase with thrombospondin type 1 motif, 5							93.0	77.0	83.0					21																	28296445		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296445C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2720G>A	21.37:g.28296445C>T	ENSP00000284987:p.Arg907Gln					AP001601.2_ENST00000426771.1_RNA	p.R907Q	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			8	2841	-			907			TSP type-1 2.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.2720G>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109954	0.56398	.	.	ENSG00000154736	ENST00000284987	T	0.49720	0.77	6.07	4.24	0.50183	.	0.111537	0.64402	D	0.000009	T	0.28333	0.0700	N	0.20445	0.575	0.32209	N	0.576769	P	0.44429	0.835	B	0.38655	0.278	T	0.15122	-1.0448	10	0.13108	T	0.6	.	11.9773	0.53100	0.0:0.843:0.0:0.157	.	907	Q9UNA0	ATS5_HUMAN	Q	907	ENSP00000284987:R907Q	ENSP00000284987:R907Q	R	-	2	0	ADAMTS5	27218316	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	3.424000	0.52764	2.884000	0.98904	0.655000	0.94253	CGG		0.527	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			13	103	0	0	0	0.016723	0	13	103				
BAG2	9532	broad.mit.edu	37	6	57048922	57048922	+	Silent	SNP	A	A	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:57048922A>G	ENST00000370693.5	+	3	942	c.570A>G	c.(568-570)ctA>ctG	p.L190L	BAG2_ENST00000545080.1_Silent_p.L157L	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	190					protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CCATCAAGCTATTAGAGCATT	0.363																																						ENST00000370693.5																			0				endometrium(1)|large_intestine(1)	2						c.(568-570)ctA>ctG		BCL2-associated athanogene 2							51.0	52.0	51.0					6																	57048922		2203	4299	6502	SO:0001819	synonymous_variant	9532				apoptosis|protein folding		protein binding	g.chr6:57048922A>G	AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.570A>G	6.37:g.57048922A>G						BAG2_ENST00000545080.1_Silent_p.L157L	p.L190L	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		3	942	+	Lung NSC(77;0.126)		190					B4DXE2|Q08AS9|Q6FID0	Silent	SNP	ENST00000370693.5	37	c.570A>G	CCDS4961.1																																																																																				0.363	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041044.2			12	61	0	0	0	0.013537	0	12	61				
OR10J3	441911	broad.mit.edu	37	1	159283758	159283758	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:159283758G>A	ENST00000332217.5	-	1	691	c.692C>T	c.(691-693)tCa>tTa	p.S231L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ACCTTCAGCTGAGGCAATCTT	0.493																																						ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(691-693)tCa>tTa		olfactory receptor, family 10, subfamily J, member 3							156.0	137.0	143.0					1																	159283758		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283758G>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.692C>T	1.37:g.159283758G>A	ENSP00000331789:p.Ser231Leu						p.S231L	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	691	-	all_hematologic(112;0.0429)		231						Missense_Mutation	SNP	ENST00000332217.5	37	c.692C>T	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.002809	0.54254	.	.	ENSG00000196266	ENST00000332217	T	0.00330	8.08	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.322823	0.17228	U	0.182059	T	0.00637	0.0021	M	0.92026	3.265	0.09310	N	1	D	0.76494	0.999	D	0.79108	0.992	T	0.34800	-0.9814	10	0.87932	D	0	.	16.5708	0.84612	0.0:0.0:1.0:0.0	.	231	Q5JRS4	O10J3_HUMAN	L	231	ENSP00000331789:S231L	ENSP00000331789:S231L	S	-	2	0	OR10J3	157550382	0.822000	0.29219	0.082000	0.20525	0.624000	0.37722	3.231000	0.51294	2.765000	0.95021	0.655000	0.94253	TCA		0.493	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			38	138	0	0	0	0.092188	0	38	138				
NAE1	8883	broad.mit.edu	37	16	66837006	66837006	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:66837006T>C	ENST00000290810.3	-	20	1608	c.1511A>G	c.(1510-1512)gAg>gGg	p.E504G	CCDC79_ENST00000433574.1_5'Flank|CCDC79_ENST00000415744.1_5'Flank|NAE1_ENST00000359087.4_Missense_Mutation_p.E507G|NAE1_ENST00000394074.2_Missense_Mutation_p.E415G|CCDC79_ENST00000558713.2_5'Flank|CCDC79_ENST00000561333.1_5'Flank|CCDC79_ENST00000432602.1_5'Flank|CCDC79_ENST00000433154.1_5'Flank|NAE1_ENST00000379463.2_Missense_Mutation_p.E498G			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	504					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTTGATGACCTCTTGAGCAGC	0.328																																						ENST00000379463.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1492-1494)gAg>gGg		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						59.0	62.0	61.0					16																	66837006		2200	4300	6500	SO:0001583	missense	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66837006T>C	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1511A>G	16.37:g.66837006T>C	ENSP00000290810:p.Glu504Gly					NAE1_ENST00000394074.2_Missense_Mutation_p.E415G|NAE1_ENST00000359087.4_Missense_Mutation_p.E507G|NAE1_ENST00000290810.3_Missense_Mutation_p.E504G	p.E498G	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	21	1685	-		Ovarian(137;0.0563)	504					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	c.1493A>G	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.546054	0.86022	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.26	5.26	0.73747	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.047215	0.85682	D	0.000000	D	0.87541	0.6203	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.90689	0.4611	10	0.87932	D	0	3.6056	15.1816	0.72962	0.0:0.0:0.0:1.0	.	507;504;498	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	G	507;504;498;415	ENSP00000351990:E507G;ENSP00000290810:E504G;ENSP00000368776:E498G;ENSP00000377637:E415G	ENSP00000290810:E504G	E	-	2	0	NAE1	65394507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.235000	0.78143	2.000000	0.58554	0.533000	0.62120	GAG		0.328	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		7	63	0	0	0	0.029380	0	7	63				
ANO5	203859	broad.mit.edu	37	11	22296150	22296150	+	Silent	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:22296150C>A	ENST00000324559.8	+	20	2588	c.2271C>A	c.(2269-2271)ccC>ccA	p.P757P	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	757					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACATCATTCCCCGTCTAGTTT	0.358																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2269-2271)ccC>ccA		anoctamin 5							137.0	121.0	126.0					11																	22296150		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22296150C>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2271C>A	11.37:g.22296150C>A						ANO5_ENST00000532043.1_3'UTR	p.P757P	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			20	2588	+			757						Silent	SNP	ENST00000324559.8	37	c.2271C>A	CCDS31444.1																																																																																				0.358	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		10	171	1	0	0.000978159	0.080935	0.00107919	10	171				
PAM	5066	broad.mit.edu	37	5	102363940	102363940	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:102363940G>C	ENST00000438793.3	+	24	3211	c.2741G>C	c.(2740-2742)aGa>aCa	p.R914T	PAM_ENST00000346918.2_Intron|PAM_ENST00000304400.7_Missense_Mutation_p.R915T|PAM_ENST00000348126.2_Missense_Mutation_p.R807T|PAM_ENST00000379787.4_Intron|PAM_ENST00000274392.9_Missense_Mutation_p.R816T|PAM_ENST00000455264.2_Missense_Mutation_p.R846T	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	914					central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GGAAGATTTAGAGGTATGCCT	0.373																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(2740-2742)aGa>aCa		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						171.0	159.0	163.0					5																	102363940		2203	4300	6503	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102363940G>C	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2741G>C	5.37:g.102363940G>C	ENSP00000396493:p.Arg914Thr					PAM_ENST00000379787.4_Intron|PAM_ENST00000274392.9_Missense_Mutation_p.R816T|PAM_ENST00000304400.7_Missense_Mutation_p.R915T|PAM_ENST00000346918.2_Intron|PAM_ENST00000455264.2_Missense_Mutation_p.R846T|PAM_ENST00000348126.2_Missense_Mutation_p.R807T	p.R914T	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	24	3211	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	914					A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.2741G>C	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.500450|4.500450	0.85176|0.85176	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000379799	T;T;T;T;T|.	0.69435|.	0.65;0.51;0.54;-0.4;0.22|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.085714|.	0.85682|.	D|.	0.000000|.	T|.	0.61098|.	0.2320|.	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D;D;D;P|.	0.67145|.	0.99;0.983;0.996;0.99;0.953|.	P;P;D;P;P|.	0.77557|.	0.841;0.701;0.99;0.897;0.782|.	T|.	0.53222|.	-0.8469|.	10|.	0.51188|.	T|.	0.08|.	.|.	20.0415|20.0415	0.97592|0.97592	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	816;914;846;915;807|.	F8WE90;P19021;P19021-3;P19021-5;P19021-2|.	.;AMD_HUMAN;.;.;.|.	T|Y	914;807;915;816;846|619	ENSP00000396493:R914T;ENSP00000314638:R807T;ENSP00000306100:R915T;ENSP00000274392:R816T;ENSP00000403461:R846T|.	ENSP00000274392:R816T|.	R|X	+|+	2|3	0|2	PAM|PAM	102391839|102391839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	4.999000|4.999000	0.63934|0.63934	2.745000|2.745000	0.94114|0.94114	0.563000|0.563000	0.77884|0.77884	AGA|TAG		0.373	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		22	146	0	0	0	0.024334	0	22	146				
TTYH1	57348	broad.mit.edu	37	19	54946764	54946764	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:54946764G>A	ENST00000376530.3	+	11	1271	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	TTYH1_ENST00000301194.4_Missense_Mutation_p.E390K|CTD-2587H19.2_ENST00000596631.1_RNA|TTYH1_ENST00000376531.3_Missense_Mutation_p.E390K|CTD-2587H19.3_ENST00000597355.1_lincRNA|AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000391739.3_Missense_Mutation_p.G420E	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	390					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		AGACGCCCTGGAAGGCCTGCT	0.687																																						ENST00000301194.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1168-1170)Gaa>Aaa		tweety family member 1							54.0	39.0	44.0					19																	54946764		2203	4300	6503	SO:0001583	missense	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54946764G>A	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.1168G>A	19.37:g.54946764G>A	ENSP00000365713:p.Glu390Lys					TTYH1_ENST00000376531.3_Missense_Mutation_p.E390K|TTYH1_ENST00000391739.3_Missense_Mutation_p.420_420insE|TTYH1_ENST00000376530.3_Missense_Mutation_p.E390K|TTYH1_ENST00000489425.1_3'UTR	p.E390K			Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	11	1290	+	Ovarian(34;0.19)		390					B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	c.1168G>A	CCDS12893.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.53|17.53	3.412073|3.412073	0.62511|0.62511	.|.	.|.	ENSG00000167614|ENSG00000167614	ENST00000301194;ENST00000376530;ENST00000376531|ENST00000391739	T;T;T|T	0.14640|0.29142	2.49;2.49;2.49|1.58	4.37|4.37	4.37|4.37	0.52481|0.52481	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49592|0.49592	0.1566|0.1566	M|M	0.82823|0.82823	2.61|2.61	0.31704|0.31704	N|N	0.640337|0.640337	D;D;D|D	0.76494|0.59767	0.999;0.999;0.992|0.986	D;D;D|P	0.85130|0.51918	0.997;0.996;0.987|0.684	T|T	0.64786|0.64786	-0.6325|-0.6325	10|9	0.10636|0.87932	T|D	0.68|0	-13.7067|-13.7067	14.7894|14.7894	0.69827|0.69827	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	390;390;390|420	Q9H313-2;Q9H313-3;Q9H313|B7Z1H9	.;.;TTYH1_HUMAN|.	K|E	390|420	ENSP00000301194:E390K;ENSP00000365713:E390K;ENSP00000365714:E390K|ENSP00000375619:G420E	ENSP00000301194:E390K|ENSP00000375619:G420E	E|G	+|+	1|2	0|0	TTYH1|TTYH1	59638576|59638576	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	6.739000|6.739000	0.74827|0.74827	2.148000|2.148000	0.66965|0.66965	0.561000|0.561000	0.74099|0.74099	GAA|GGA		0.687	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			8	87	0	0	0	0.038147	0	8	87				
NKRF	55922	broad.mit.edu	37	X	118723933	118723933	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chrX:118723933C>A	ENST00000371527.1	-	2	2107	c.1455G>T	c.(1453-1455)gaG>gaT	p.E485D	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.E500D|NKRF_ENST00000304449.5_Missense_Mutation_p.E485D	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	485					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E485D(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TTACTTCACTCTCTAGAATCA	0.458																																						ENST00000371527.1																			1	Substitution - Missense(1)	p.E485D(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1453-1455)gaG>gaT		NFKB repressing factor							102.0	102.0	102.0					X																	118723933		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118723933C>A	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1455G>T	X.37:g.118723933C>A	ENSP00000360582:p.Glu485Asp					NKRF_ENST00000542113.1_Missense_Mutation_p.E500D|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.E485D	p.E485D	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	2107	-			485					G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.1455G>T	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	C	5.305	0.241608	0.10077	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.74842	-0.88;-0.88;-0.88	5.6	3.84	0.44239	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.045924	0.85682	D	0.000000	T	0.62109	0.2401	L	0.45228	1.405	0.48288	D	0.999628	B	0.23540	0.087	B	0.20955	0.032	T	0.52741	-0.8535	10	0.29301	T	0.29	-5.7921	6.8006	0.23748	0.0:0.6229:0.0:0.3771	.	485	O15226	NKRF_HUMAN	D	485;485;500	ENSP00000360582:E485D;ENSP00000304803:E485D;ENSP00000442308:E500D	ENSP00000304803:E485D	E	-	3	2	NKRF	118607961	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.003000	0.29809	0.545000	0.28902	-0.191000	0.12829	GAG		0.458	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		5	186	1	0	2.0095e-06	0.029380	2.38501e-06	5	186				
ITSN2	50618	broad.mit.edu	37	2	24432687	24432687	+	Splice_Site	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:24432687C>T	ENST00000355123.4	-	35	4916	c.4473G>A	c.(4471-4473)acG>acA	p.T1491T	ITSN2_ENST00000361999.3_Splice_Site_p.T1464T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1491	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.T1490T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATACTCACCGTTTTATACA	0.502																																						ENST00000355123.4																			1	Substitution - coding silent(1)	p.T1490T(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.e35+1		intersectin 2							84.0	75.0	78.0					2																	24432687		2203	4300	6503	SO:0001630	splice_region_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24432687C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4473+1G>A	2.37:g.24432687C>T						ITSN2_ENST00000361999.3_Splice_Site_p.T1464_splice	p.T1491_splice	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			35	4916	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1491			PH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Splice_Site	SNP	ENST00000355123.4	37	c.4473_splice	CCDS1710.2																																																																																				0.502	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	Silent	5	108	0	0	0	0.014758	0	5	108				
MGAT4A	11320	broad.mit.edu	37	2	99279521	99279521	+	Silent	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:99279521G>T	ENST00000264968.3	-	4	888	c.525C>A	c.(523-525)gtC>gtA	p.V175V	MGAT4A_ENST00000414521.2_Silent_p.V47V|MGAT4A_ENST00000393487.1_Silent_p.V175V|MGAT4A_ENST00000409391.1_Silent_p.V175V|MGAT4A_ENST00000461884.1_5'UTR			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	175					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CTCCTATGAAGACTACTATAA	0.303																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(523-525)gtC>gtA		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							102.0	112.0	109.0					2																	99279521		2203	4293	6496	SO:0001819	synonymous_variant	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99279521G>T	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.525C>A	2.37:g.99279521G>T						MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000264968.2_Silent_p.V175V|MGAT4A_ENST00000414521.2_Silent_p.V47V|MGAT4A_ENST00000409391.1_Silent_p.V175V	p.V175V	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			5	838	-			175					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Silent	SNP	ENST00000264968.3	37	c.525C>A	CCDS2036.1																																																																																				0.303	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		29	268	1	0	0.000184323	0.034045	0.000207254	29	268				
FIGNL1	63979	broad.mit.edu	37	7	50514478	50514478	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:50514478G>C	ENST00000419119.1	-	2	2061	c.508C>G	c.(508-510)Cga>Gga	p.R170G	FIGNL1_ENST00000395556.2_Missense_Mutation_p.R170G|FIGNL1_ENST00000356889.4_Missense_Mutation_p.R170G|FIGNL1_ENST00000433017.1_Missense_Mutation_p.R170G			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	170					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GTCCGGTCTCGATCATGAGCT	0.458																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(508-510)Cga>Gga		fidgetin-like 1							145.0	144.0	145.0					7																	50514478		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514478G>C	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.508C>G	7.37:g.50514478G>C	ENSP00000410811:p.Arg170Gly					FIGNL1_ENST00000433017.1_Missense_Mutation_p.R170G|FIGNL1_ENST00000356889.4_Missense_Mutation_p.R170G|FIGNL1_ENST00000395556.2_Missense_Mutation_p.R170G	p.R170G			Q6PIW4	FIGL1_HUMAN			2	2061	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	170					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.508C>G	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	G	0.380	-0.928968	0.02359	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.49	-8.03	0.01114	.	3.299370	0.02522	N	0.092686	T	0.80854	0.4703	N	0.08118	0	0.09310	N	0.999998	B	0.10296	0.003	B	0.10450	0.005	T	0.70722	-0.4794	10	0.22706	T	0.39	3.1903	10.216	0.43168	0.0:0.4153:0.4072:0.1776	.	170	Q6PIW4	FIGL1_HUMAN	G	170	ENSP00000349356:R170G;ENSP00000378924:R170G;ENSP00000399997:R170G;ENSP00000410811:R170G	ENSP00000349356:R170G	R	-	1	2	FIGNL1	50481972	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.232000	0.02936	-1.425000	0.01997	-0.457000	0.05445	CGA		0.458	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		35	237	0	0	0	0.054565	0	35	237				
TRBV27	28560	broad.mit.edu	37	7	142423604	142423604	+	RNA	SNP	G	G	A	rs372917970		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:142423604G>A	ENST00000390399.3	+	0	303									T cell receptor beta variable 27																		AAAGTCTCTCGAAAAGAGAAG	0.502																																						ENST00000506718.1																			0															G		0,3870		0,0,1935	61.0	62.0	62.0			2.5	0.0	7		62	1,8295		0,1,4147	no	intergenic				0,1,6082	AA,AG,GG		0.0121,0.0,0.0082			142423604	1,12165	1935	4148	6083			28560							g.chr7:142423604G>A	L36092		7q34	2012-02-07			ENSG00000211752	ENSG00000211752		"""T cell receptors / TRB locus"""	12208	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV14S1, TCRBV27S1			OTTHUMG00000158924		7.37:g.142423604G>A						TRBV27_ENST00000390399.3_RNA								0	612	+									RNA	SNP	ENST00000390399.3	37																																																																																						0.502	TRBV27-002	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352544.2	NG_001333		7	62	0	0	0	0.047766	0	7	62				
TTN	7273	broad.mit.edu	37	2	179650801	179650801	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:179650801C>G	ENST00000591111.1	-	14	2368	c.2144G>C	c.(2143-2145)aGa>aCa	p.R715T	TTN_ENST00000589042.1_Missense_Mutation_p.R715T|TTN_ENST00000360870.5_Missense_Mutation_p.R715T|TTN_ENST00000342992.6_Missense_Mutation_p.R715T|TTN_ENST00000359218.5_Missense_Mutation_p.R669T|TTN_ENST00000342175.6_Missense_Mutation_p.R669T|TTN_ENST00000460472.2_Missense_Mutation_p.R669T			Q8WZ42	TITIN_HUMAN	titin	0					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)			TCTGGGCTCTCTGACTCGGGC	0.502																																						ENST00000589042.1																			0				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						c.(2143-2145)aGa>aCa		titin							61.0	62.0	62.0					2																	179650801		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650801C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2144G>C	2.37:g.179650801C>G	ENSP00000465570:p.Arg715Thr					TTN_ENST00000360870.5_Missense_Mutation_p.R715T|TTN_ENST00000591111.1_Missense_Mutation_p.R715T|TTN_ENST00000359218.5_Missense_Mutation_p.R669T|TTN_ENST00000342175.6_Missense_Mutation_p.R669T|TTN_ENST00000460472.2_Missense_Mutation_p.R669T|TTN_ENST00000342992.6_Missense_Mutation_p.R715T	p.R715T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		14	2368	-			715					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.2144G>C		.	.	.	.	.	.	.	.	.	.	C	13.88	2.368531	0.42003	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.70516	-0.49;-0.28;-0.27;-0.29;0.36	5.99	5.99	0.97316	Ribonuclease H-like (1);	.	.	.	.	T	0.79616	0.4476	L	0.36672	1.1	0.33985	D	0.648427	D;D;D;D;D	0.89917	0.958;0.958;0.993;0.997;1.0	P;P;P;P;D	0.68943	0.558;0.558;0.796;0.879;0.961	D	0.83373	0.0008	9	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	669;669;669;715;715	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	715;669;669;669;669;715	ENSP00000343764:R715T;ENSP00000434586:R669T;ENSP00000340554:R669T;ENSP00000352154:R669T;ENSP00000354117:R715T	ENSP00000340554:R669T	R	-	2	0	TTN	179359046	1.000000	0.71417	0.985000	0.45067	0.403000	0.30841	5.114000	0.64648	2.840000	0.97914	0.655000	0.94253	AGA		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	85	0	0	0	0.047766	0	8	85				
SERGEF	26297	broad.mit.edu	37	11	17981067	17981067	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:17981067G>A	ENST00000265965.5	-	9	1112	c.961C>T	c.(961-963)Cca>Tca	p.P321S	SERGEF_ENST00000528200.1_Intron|SERGEF_ENST00000532265.1_Intron	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	321					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CTGTTCGGTGGTCTTGAACAG	0.478																																						ENST00000265965.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						c.(961-963)Cca>Tca		secretion regulating guanine nucleotide exchange factor							112.0	108.0	109.0					11																	17981067		2200	4293	6493	SO:0001583	missense	26297				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity	g.chr11:17981067G>A	AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.961C>T	11.37:g.17981067G>A	ENSP00000265965:p.Pro321Ser					SERGEF_ENST00000528200.1_Intron|SERGEF_ENST00000532265.1_Intron	p.P321S	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN			9	1112	-			321					Q9UGK9	Missense_Mutation	SNP	ENST00000265965.5	37	c.961C>T	CCDS7828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.75|12.75	2.031452|2.031452	0.35797|0.35797	.|.	.|.	ENSG00000129158|ENSG00000129158	ENST00000265965;ENST00000529728|ENST00000533241	D;D|.	0.99741|.	-6.6;-6.6|.	6.17|6.17	4.21|4.21	0.49690|0.49690	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);|.	0.719088|.	0.13980|.	N|.	0.349563|.	T|T	0.41949|0.41949	0.1181|0.1181	L|L	0.46885|0.46885	1.475|1.475	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.27416|.	0.178;0.065|.	B;B|.	0.28385|.	0.089;0.022|.	T|T	0.26121|0.26121	-1.0112|-1.0112	10|5	0.08837|.	T|.	0.75|.	0.7836|0.7836	9.5065|9.5065	0.39051|0.39051	0.0833:0.1558:0.761:0.0|0.0833:0.1558:0.761:0.0	.|.	207;321|.	E9PMV6;Q9UGK8|.	.;SRGEF_HUMAN|.	S|I	321;207|93	ENSP00000265965:P321S;ENSP00000437297:P207S|.	ENSP00000265965:P321S|.	P|T	-|-	1|2	0|0	SERGEF|SERGEF	17937643|17937643	0.138000|0.138000	0.22547|0.22547	0.022000|0.022000	0.16811|0.16811	0.799000|0.799000	0.45148|0.45148	1.896000|1.896000	0.39789|0.39789	1.627000|1.627000	0.50400|0.50400	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.478	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389538.1	NM_012139		11	76	0	0	0	0.069234	0	11	76				
FAT3	120114	broad.mit.edu	37	11	92085715	92085715	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:92085715T>C	ENST00000298047.6	+	1	454	c.437T>C	c.(436-438)aTa>aCa	p.I146T	FAT3_ENST00000541502.1_Missense_Mutation_p.I146T|FAT3_ENST00000525166.1_5'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.I146T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	146	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAAGTGAATATACAGGTTTTA	0.378										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(436-438)aTa>aCa		FAT atypical cadherin 3							57.0	57.0	57.0					11																	92085715		1848	4094	5942	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085715T>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.437T>C	11.37:g.92085715T>C	ENSP00000298047:p.Ile146Thr	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_5'UTR|FAT3_ENST00000541502.1_Missense_Mutation_p.I146T|FAT3_ENST00000409404.2_Missense_Mutation_p.I146T	p.I146T			Q8TDW7	FAT3_HUMAN			1	454	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	146			Cadherin 1.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.437T>C		.	.	.	.	.	.	.	.	.	.	T	18.23	3.577171	0.65878	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	T;T;T	0.69685	-0.42;-0.42;-0.42	5.53	5.53	0.82687	.	.	.	.	.	T	0.80423	0.4620	M	0.93939	3.475	0.43435	D	0.995603	P	0.44044	0.825	P	0.47346	0.544	D	0.85696	0.1310	9	0.87932	D	0	.	15.1314	0.72527	0.0:0.0:0.0:1.0	.	146	Q8TDW7-3	.	T	146	ENSP00000298047:I146T;ENSP00000387040:I146T;ENSP00000443786:I146T	ENSP00000298047:I146T	I	+	2	0	FAT3	91725363	0.998000	0.40836	0.877000	0.34402	0.993000	0.82548	7.975000	0.88055	2.225000	0.72522	0.533000	0.62120	ATA		0.378	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	61	0	0	0	0.021553	0	6	61				
ADAMTS12	81792	broad.mit.edu	37	5	33576465	33576465	+	Silent	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:33576465G>T	ENST00000504830.1	-	19	4001	c.3666C>A	c.(3664-3666)ccC>ccA	p.P1222P	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Silent_p.P1137P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1222	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCCTTTGGCTGGGGAGCAGTC	0.557										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3664-3666)ccC>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 12							135.0	130.0	132.0					5																	33576465		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576465G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3666C>A	5.37:g.33576465G>T		HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Silent_p.P1137P	p.P1222P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	4001	-			1222			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.3666C>A	CCDS34140.1																																																																																				0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		43	140	1	0	1.68508e-10	0.036044	2.10636e-10	43	140				
QTRT1	81890	broad.mit.edu	37	19	10822906	10822906	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:10822906T>G	ENST00000250237.5	+	6	726	c.716T>G	c.(715-717)tTc>tGc	p.F239C		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	239					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			AAGTCGCAGTTCTGGCGGATG	0.622																																						ENST00000250237.5																			0				large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(715-717)tTc>tGc		queuine tRNA-ribosyltransferase 1							56.0	59.0	58.0					19																	10822906		2203	4300	6503	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10822906T>G	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.716T>G	19.37:g.10822906T>G	ENSP00000250237:p.Phe239Cys						p.F239C	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		6	726	+			239					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.716T>G	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.291223	0.59976	.	.	ENSG00000213339	ENST00000250237	.	.	.	4.01	4.01	0.46588	.	0.000000	0.85682	U	0.000000	D	0.86615	0.5975	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90187	0.4247	9	0.87932	D	0	-2.1509	12.0397	0.53446	0.0:0.0:0.0:1.0	.	239	Q9BXR0	TGT_HUMAN	C	239	.	ENSP00000250237:F239C	F	+	2	0	QTRT1	10683906	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	7.166000	0.77553	1.689000	0.51079	0.379000	0.24179	TTC		0.622	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		10	107	0	0	0	0.069234	0	10	107				
LILRA6	79168	broad.mit.edu	37	19	54744217	54744217	+	Silent	SNP	G	G	A	rs78401423	byFrequency	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:54744217G>A	ENST00000396365.2	-	6	1230	c.1191C>T	c.(1189-1191)taC>taT	p.Y397Y	LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Silent_p.Y397Y|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000419410.2_Silent_p.Y397Y|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	397	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTATGAGCCGTAGCACCTGT	0.597													.|||	2	0.000399361	0.0	0.0014	5008	,	,		24490	0.001		0.0	False		,,,				2504	0.0					ENST00000419410.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(1189-1191)taC>taT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6		G		1,4405		0,1,2202	79.0	111.0	100.0		1191	-0.7	0.1	19	dbSNP_131	100	0,8600		0,0,4300	no	coding-synonymous	LILRA6	NM_024318.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		397/482	54744217	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79168							g.chr19:54744217G>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1191C>T	19.37:g.54744217G>A						LILRA6_ENST00000396365.2_Silent_p.Y397Y|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.Y397Y|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Intron	p.Y397Y						GBM - Glioblastoma multiforme(193;0.105)	6	1192	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Silent	SNP	ENST00000396365.2	37	c.1191C>T	CCDS42610.1																																																																																				0.597	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		4	226	0	0	0	0.009096	0	4	226				
SNTG1	54212	broad.mit.edu	37	8	51449368	51449368	+	Splice_Site	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:51449368G>T	ENST00000522124.1	+	11	1341	c.680G>T	c.(679-681)cGg>cTg	p.R227L	SNTG1_ENST00000518864.1_Splice_Site_p.R227L|SNTG1_ENST00000276467.5_Splice_Site_p.R227L|SNTG1_ENST00000517473.1_Splice_Site_p.R227L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	227					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)				GATTTGAGTCGGTGAGTCCGT	0.438																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.e11+1		syntrophin, gamma 1							176.0	162.0	167.0					8																	51449368		2203	4300	6503	SO:0001630	splice_region_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51449368G>T	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.680+1G>T	8.37:g.51449368G>T						SNTG1_ENST00000517473.1_Splice_Site_p.R227_splice|SNTG1_ENST00000518864.1_Splice_Site_p.R227_splice|SNTG1_ENST00000276467.5_Splice_Site_p.R227_splice	p.R227_splice	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			11	1341	+		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)	227					Q2M3Q0|Q9NY98	Splice_Site	SNP	ENST00000522124.1	37	c.680_splice	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944260	0.53079	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.91	4.04	0.47022	Pleckstrin homology domain (1);	0.046236	0.85682	D	0.000000	T	0.71039	0.3293	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;0.987	D;D	0.97110	1.0;0.953	T	0.74372	-0.3687	10	0.87932	D	0	.	11.8545	0.52429	0.086:0.0:0.914:0.0	.	227;227	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	L	227	ENSP00000429276:R227L;ENSP00000429842:R227L;ENSP00000431123:R227L;ENSP00000276467:R227L	ENSP00000276467:R227L	R	+	2	0	SNTG1	51611921	1.000000	0.71417	0.991000	0.47740	0.103000	0.19146	8.032000	0.88838	1.076000	0.40961	-0.339000	0.08088	CGG		0.438	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1		Missense_Mutation	44	279	1	0	3.86361e-14	0.048971	4.96146e-14	44	279				
MTERF3	51001	broad.mit.edu	37	8	97251890	97251890	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:97251890C>G	ENST00000287025.3	-	8	1181	c.1083G>C	c.(1081-1083)aaG>aaC	p.K361N	MTERFD1_ENST00000522822.1_Missense_Mutation_p.K240N|MTERFD1_ENST00000524341.1_Missense_Mutation_p.K117N|KB-1043D8.6_ENST00000520575.1_RNA|MTERFD1_ENST00000523821.1_3'UTR	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		361					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TTTCTTTGACCTTAAACAGCC	0.323																																						ENST00000287025.3																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1081-1083)aaG>aaC		MTERF domain containing 1							68.0	69.0	69.0					8																	97251890		2203	4297	6500	SO:0001583	missense	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97251890C>G																												ENST00000287025.3:c.1083G>C	8.37:g.97251890C>G	ENSP00000287025:p.Lys361Asn					MTERFD1_ENST00000524341.1_Missense_Mutation_p.K117N|MTERFD1_ENST00000523821.1_3'UTR|MTERFD1_ENST00000522822.1_Missense_Mutation_p.K240N	p.K361N	NM_015942.3	NP_057026.3	Q96E29	MTER1_HUMAN			8	1181	-	Breast(36;5.16e-05)		361					B3KMG6|G3V130|Q9Y301	Missense_Mutation	SNP	ENST00000287025.3	37	c.1083G>C	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.829898	0.50845	.	.	ENSG00000156469	ENST00000522822;ENST00000524341;ENST00000287025	T;T;T	0.46063	1.32;0.88;1.32	5.87	4.72	0.59763	.	0.141767	0.64402	D	0.000005	T	0.51381	0.1671	L	0.56769	1.78	0.39384	D	0.966306	D	0.56287	0.975	P	0.54590	0.756	T	0.55842	-0.8077	10	0.62326	D	0.03	-23.2989	10.7742	0.46340	0.0:0.0718:0.0:0.9282	.	361	Q96E29	MTER1_HUMAN	N	240;117;361	ENSP00000430138:K240N;ENSP00000429267:K117N;ENSP00000287025:K361N	ENSP00000287025:K361N	K	-	3	2	MTERFD1	97321066	0.999000	0.42202	0.930000	0.37139	0.513000	0.34164	2.582000	0.46085	1.163000	0.42636	-0.238000	0.12139	AAG		0.323	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			15	91	0	0	0	0.024245	0	15	91				
KIAA1109	84162	broad.mit.edu	37	4	123147888	123147888	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:123147888G>C	ENST00000264501.4	+	24	3193	c.2820G>C	c.(2818-2820)caG>caC	p.Q940H	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.Q940H|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Q940H			Q2LD37	K1109_HUMAN	KIAA1109	940					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGTGGGGACAGACATTTGTTT	0.413																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(2818-2820)caG>caC		KIAA1109							219.0	211.0	213.0					4																	123147888		1987	4180	6167	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123147888G>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2820G>C	4.37:g.123147888G>C	ENSP00000264501:p.Gln940His					KIAA1109_ENST00000455637.1_Missense_Mutation_p.Q940H|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Q940H|KIAA1109_ENST00000495260.1_3'UTR	p.Q940H			Q2LD37	K1109_HUMAN			24	3193	+			940					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.2820G>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.26|16.26	3.074456|3.074456	0.55646|0.55646	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.48836	.|0.8;0.8;0.8	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|2.403910	.|0.02659	.|N	.|0.107288	T|T	0.50017|0.50017	0.1591|0.1591	L|L	0.40543|0.40543	1.245|1.245	0.44268|0.44268	D|D	0.997129|0.997129	.|P	.|0.44578	.|0.838	.|B	.|0.41691	.|0.364	T|T	0.43426|0.43426	-0.9392|-0.9392	5|10	.|0.87932	.|D	.|0	.|.	14.0756|14.0756	0.64889|0.64889	0.072:0.0:0.928:0.0|0.072:0.0:0.928:0.0	.|.	.|940	.|Q2LD37	.|K1109_HUMAN	H|H	772|940	.|ENSP00000264501:Q940H;ENSP00000373390:Q940H;ENSP00000389925:Q940H	.|ENSP00000264501:Q940H	D|Q	+|+	1|3	0|2	KIAA1109|KIAA1109	123367338|123367338	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.680000|5.680000	0.68168|0.68168	2.709000|2.709000	0.92574|0.92574	0.585000|0.585000	0.79938|0.79938	GAC|CAG		0.413	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		20	294	0	0	0	0.069288	0	20	294				
MKRN3	7681	broad.mit.edu	37	15	23811027	23811027	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:23811027C>T	ENST00000314520.3	+	1	574	c.98C>T	c.(97-99)cCc>cTc	p.P33L	MKRN3_ENST00000568252.1_Missense_Mutation_p.P33L|MKRN3_ENST00000564592.1_Missense_Mutation_p.P33L|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	33					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CCGGACCTTCCCGTCTGTGAG	0.682																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(97-99)cCc>cTc		makorin ring finger protein 3							32.0	39.0	37.0					15																	23811027		2201	4299	6500	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811027C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.98C>T	15.37:g.23811027C>T	ENSP00000313881:p.Pro33Leu					MKRN3_ENST00000564592.1_Missense_Mutation_p.P33L|MKRN3_ENST00000568252.1_Missense_Mutation_p.P33L	p.P33L	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	574	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	33						Missense_Mutation	SNP	ENST00000314520.3	37	c.98C>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	12.49	1.954277	0.34471	.	.	ENSG00000179455	ENST00000314520	T	0.31769	1.48	3.24	0.0925	0.14473	.	0.278302	0.21826	U	0.068549	T	0.11281	0.0275	N	0.08118	0	0.09310	N	1	B;B	0.32800	0.385;0.02	B;B	0.30251	0.113;0.012	T	0.14200	-1.0481	10	0.66056	D	0.02	.	1.7732	0.03016	0.2118:0.4586:0.2064:0.1231	.	33;33	Q6NSB6;Q13064	.;MKRN3_HUMAN	L	33	ENSP00000313881:P33L	ENSP00000313881:P33L	P	+	2	0	MKRN3	21362120	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.160000	0.16462	0.024000	0.15214	0.467000	0.42956	CCC		0.682	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		8	91	0	0	0	0.058154	0	8	91				
MOXD1	26002	broad.mit.edu	37	6	132649650	132649650	+	Silent	SNP	G	G	A	rs147693794	byFrequency	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:132649650G>A	ENST00000367963.3	-	5	865	c.747C>T	c.(745-747)agC>agT	p.S249S	MOXD1_ENST00000336749.3_Silent_p.S181S	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	249						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.S249S(1)|p.S181S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ACTCCAGAACGCTGTCGTTAA	0.517																																						ENST00000367963.3																			2	Substitution - coding silent(2)	p.S249S(1)|p.S181S(1)	endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(745-747)agC>agT		monooxygenase, DBH-like 1		G		0,4406		0,0,2203	169.0	141.0	150.0		747	-7.7	0.0	6	dbSNP_134	150	5,8595	4.3+/-15.6	0,5,4295	yes	coding-synonymous	MOXD1	NM_015529.2		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		249/614	132649650	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132649650G>A	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.747C>T	6.37:g.132649650G>A						MOXD1_ENST00000336749.3_Silent_p.S181S	p.S249S	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	5	865	-	Breast(56;0.0495)		249					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	c.747C>T	CCDS5152.2																																																																																				0.517	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		10	101	0	0	0	0.080935	0	10	101				
LDLR	3949	broad.mit.edu	37	19	11240185	11240185	+	Intron	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:11240185A>T	ENST00000558518.1	+	17	2576				LDLR_ENST00000558013.1_Intron|LDLR_ENST00000557933.1_Silent_p.L816L|LDLR_ENST00000535915.1_Intron|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000545707.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor						cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GCCTCTCCCTACAGTGCTCCT	0.547																																					GBM(18;201 575 7820 21545)	ENST00000557933.1																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2446-2448)ctA>ctT		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						109.0	93.0	99.0					19																	11240185		2203	4300	6503	SO:0001627	intron_variant	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11240185A>T	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2390-4A>T	19.37:g.11240185A>T						LDLR_ENST00000558518.1_Intron|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000535915.1_Intron|LDLR_ENST00000558013.1_Intron	p.L816L			P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	17	2535	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	66			Required for MYLIP-triggered down- regulation of LDLR.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	c.2448A>T	CCDS12254.1																																																																																				0.547	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			12	94	0	0	0	0.016723	0	12	94				
FSTL5	56884	broad.mit.edu	37	4	162307204	162307204	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:162307204A>G	ENST00000306100.5	-	16	2675	c.2239T>C	c.(2239-2241)Tcc>Ccc	p.S747P	FSTL5_ENST00000427802.2_Missense_Mutation_p.S737P|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.S746P|FSTL5_ENST00000379164.4_Missense_Mutation_p.S746P	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	747						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGTAAAGGATGGTTGAAAT	0.408																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(2239-2241)Tcc>Ccc		follistatin-like 5							90.0	87.0	88.0					4																	162307204		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162307204A>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2239T>C	4.37:g.162307204A>G	ENSP00000305334:p.Ser747Pro					FSTL5_ENST00000379164.4_Missense_Mutation_p.S746P|FSTL5_ENST00000536695.1_Missense_Mutation_p.S746P|FSTL5_ENST00000427802.2_Missense_Mutation_p.S737P|RP11-234O6.2_ENST00000508189.1_RNA	p.S747P	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2675	-	all_hematologic(180;0.24)		747					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.2239T>C	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.597581	0.66332	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.80764	0.968;0.994;0.953	T	0.61564	-0.7037	10	0.87932	D	0	.	15.2632	0.73640	1.0:0.0:0.0:0.0	.	737;746;747	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	P	747;746;737;746	ENSP00000305334:S747P;ENSP00000368462:S746P;ENSP00000389270:S737P;ENSP00000440409:S746P	ENSP00000305334:S747P	S	-	1	0	FSTL5	162526654	1.000000	0.71417	0.984000	0.44739	0.670000	0.39368	8.829000	0.92055	2.182000	0.69389	0.533000	0.62120	TCC		0.408	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		17	142	0	0	0	0.028581	0	17	142				
ACAD8	27034	broad.mit.edu	37	11	134131756	134131756	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:134131756A>T	ENST00000281182.4	+	9	1170	c.1064A>T	c.(1063-1065)aAg>aTg	p.K355M	ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000374752.4_Missense_Mutation_p.K228M|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000537423.1_Missense_Mutation_p.K278M	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	355					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	TCCATGGCCAAGCTCTTTGCT	0.582																																					GBM(65;238 1125 33403 41853 48889)	ENST00000281182.4																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1063-1065)aAg>aTg		acyl-CoA dehydrogenase family, member 8							132.0	92.0	106.0					11																	134131756		2201	4297	6498	SO:0001583	missense	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134131756A>T	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.1064A>T	11.37:g.134131756A>T	ENSP00000281182:p.Lys355Met					ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000537423.1_Missense_Mutation_p.K278M|ACAD8_ENST00000374752.4_Missense_Mutation_p.K228M|ACAD8_ENST00000524547.1_3'UTR	p.K355M	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	9	1170	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	355					B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	37	c.1064A>T	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.994693	0.93167	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000374752	D;D;D	0.99557	-6.16;-6.16;-6.16	5.69	5.69	0.88448	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	H	0.99811	4.8	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	0.96194	0.9140	10	0.87932	D	0	.	15.9508	0.79835	1.0:0.0:0.0:0.0	.	278;228;355	B7Z5W4;Q6ZWP6;Q9UKU7	.;.;ACAD8_HUMAN	M	355;278;228	ENSP00000281182:K355M;ENSP00000443763:K278M;ENSP00000363884:K228M	ENSP00000281182:K355M	K	+	2	0	ACAD8	133636966	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.222000	0.95196	2.170000	0.68504	0.459000	0.35465	AAG		0.582	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		4	54	0	0	0	0.009096	0	4	54				
SCNN1A	6337	broad.mit.edu	37	12	6457162	6457162	+	Silent	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:6457162T>C	ENST00000228916.2	-	13	1985	c.1887A>G	c.(1885-1887)ccA>ccG	p.P629P	SCNN1A_ENST00000540037.1_Silent_p.P329P|SCNN1A_ENST00000358945.3_Silent_p.P651P|SCNN1A_ENST00000543768.1_Silent_p.P652P|SCNN1A_ENST00000360168.3_Silent_p.P688P|SCNN1A_ENST00000396966.2_3'UTR	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	629					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	gagcagggcctggctgggaca	0.697																																						ENST00000358945.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1951-1953)ccA>ccG		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						19.0	17.0	18.0					12																	6457162		2186	4282	6468	SO:0001819	synonymous_variant	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6457162T>C	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1887A>G	12.37:g.6457162T>C						SCNN1A_ENST00000543768.1_Silent_p.P652P|SCNN1A_ENST00000360168.3_Silent_p.P688P|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000228916.2_Silent_p.P629P|SCNN1A_ENST00000540037.1_Silent_p.P329P	p.P651P			P37088	SCNNA_HUMAN			13	2393	-			629					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	ENST00000228916.2	37	c.1953A>G	CCDS8543.1																																																																																				0.697	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			4	14	0	0	0	0.009096	0	4	14				
PTPRF	5792	broad.mit.edu	37	1	44084958	44084958	+	Splice_Site	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:44084958G>T	ENST00000359947.4	+	28	4986		c.e28-1		PTPRF_ENST00000372414.3_Splice_Site|PTPRF_ENST00000438120.1_Splice_Site|PTPRF_ENST00000372413.3_Splice_Site|PTPRF_ENST00000496447.1_Splice_Site|PTPRF_ENST00000422171.2_Splice_Site	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F						cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGTCCTGCAGCGCGGGCGTG	0.652																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.e28-1		protein tyrosine phosphatase, receptor type, F							25.0	26.0	26.0					1																	44084958		2202	4295	6497	SO:0001630	splice_region_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44084958G>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4647-1G>T	1.37:g.44084958G>T						PTPRF_ENST00000422171.2_Splice_Site|PTPRF_ENST00000372414.3_Splice_Site|PTPRF_ENST00000372413.3_Splice_Site|PTPRF_ENST00000496447.1_Splice_Site|PTPRF_ENST00000438120.1_Splice_Site		NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			28	4986	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)						D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Splice_Site	SNP	ENST00000359947.4	37		CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281737	0.59758	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000412568;ENST00000429895;ENST00000414879;ENST00000422171;ENST00000372407	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2372	0.93866	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRF	43857545	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	9.807000	0.99171	2.714000	0.92807	0.561000	0.74099	.		0.652	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		Intron	5	36	1	0	0.014758	0.014758	0.0157642	5	36				
RIF1	55183	broad.mit.edu	37	2	152324520	152324520	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:152324520C>T	ENST00000243326.5	+	30	7090	c.6607C>T	c.(6607-6609)Cgt>Tgt	p.R2203C	RIF1_ENST00000430328.2_Missense_Mutation_p.R2203C|RIF1_ENST00000428287.2_Missense_Mutation_p.R2203C|RIF1_ENST00000444746.2_Missense_Mutation_p.R2203C|RIF1_ENST00000453091.2_Missense_Mutation_p.R2203C			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCAGGTTCGCCGTGTCTCCTT	0.358																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(6607-6609)Cgt>Tgt		RAP1 interacting factor homolog (yeast)							115.0	109.0	111.0					2																	152324520		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152324520C>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6607C>T	2.37:g.152324520C>T	ENSP00000243326:p.Arg2203Cys					RIF1_ENST00000430328.2_Missense_Mutation_p.R2203C|RIF1_ENST00000428287.2_Missense_Mutation_p.R2203C|RIF1_ENST00000453091.2_Missense_Mutation_p.R2203C|RIF1_ENST00000444746.2_Missense_Mutation_p.R2203C	p.R2203C			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	30	7090	+			2203			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.6607C>T	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303374	0.81136	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.32023	1.69;1.47;1.47;1.69;1.47	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53322	-0.8455	10	0.87932	D	0	-6.712	14.167	0.65483	0.1499:0.8501:0.0:0.0	.	2203;2203	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	C	2203	ENSP00000390181:R2203C;ENSP00000414615:R2203C;ENSP00000415691:R2203C;ENSP00000243326:R2203C;ENSP00000416123:R2203C	ENSP00000243326:R2203C	R	+	1	0	RIF1	152032766	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	3.047000	0.49854	2.653000	0.90120	0.591000	0.81541	CGT		0.358	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			25	165	0	0	0	0.027356	0	25	165				
OR52B2	255725	broad.mit.edu	37	11	6191298	6191298	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:6191298A>C	ENST00000530810.1	-	1	340	c.259T>G	c.(259-261)Ttt>Gtt	p.F87V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAAGCCAAAAGATGGCTAGG	0.493																																					NSCLC(5;186 261 1778 7098 14207)	ENST00000530810.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21						c.(259-261)Ttt>Gtt		olfactory receptor, family 52, subfamily B, member 2							170.0	170.0	170.0					11																	6191298		2120	4254	6374	SO:0001583	missense	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6191298A>C	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.259T>G	11.37:g.6191298A>C	ENSP00000432011:p.Phe87Val					RP11-290F24.3_ENST00000529961.1_RNA	p.F87V	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	340	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	87					Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	c.259T>G	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.844737	0.51164	.	.	ENSG00000255307	ENST00000530810	T	0.78816	-1.21	5.02	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.89842	0.6832	M	0.93375	3.41	0.28105	N	0.931225	D	0.76494	0.999	D	0.78314	0.991	T	0.83156	-0.0101	9	0.87932	D	0	.	9.9788	0.41800	0.921:0.0:0.079:0.0	.	87	Q96RD2	O52B2_HUMAN	V	87	ENSP00000432011:F87V	ENSP00000432011:F87V	F	-	1	0	OR52B2	6147874	0.997000	0.39634	0.996000	0.52242	0.698000	0.40448	3.981000	0.56902	0.941000	0.37499	0.523000	0.50628	TTT		0.493	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		16	160	0	0	0	0.033300	0	16	160				
OBSCN	84033	broad.mit.edu	37	1	228465484	228465484	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:228465484G>C	ENST00000422127.1	+	25	6828	c.6784G>C	c.(6784-6786)Gtc>Ctc	p.V2262L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.V2691L|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000284548.11_Missense_Mutation_p.V2262L|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V1109L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2262					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTACCGGAGAGTCCTGGCGGA	0.622																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(8071-8073)Gtc>Ctc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							62.0	65.0	64.0					1																	228465484		1927	4143	6070	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228465484G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6784G>C	1.37:g.228465484G>C	ENSP00000409493:p.Val2262Leu					OBSCN_ENST00000284548.11_Missense_Mutation_p.V2262L|OBSCN_ENST00000422127.1_Missense_Mutation_p.V2262L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V1109L	p.V2691L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			30	8145	+		Prostate(94;0.0405)	1688			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.8071G>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055742	0.55325	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.70399	-0.09;-0.48;0.08	4.34	4.34	0.51931	.	0.095117	0.42682	D	0.000667	T	0.77452	0.4132	L	0.35487	1.065	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.85130	0.978;0.997	T	0.79921	-0.1599	10	0.56958	D	0.05	.	17.0229	0.86438	0.0:0.0:1.0:0.0	.	2262;2262	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	2262;2262;1109	ENSP00000284548:V2262L;ENSP00000409493:V2262L;ENSP00000352613:V1109L	ENSP00000284548:V2262L	V	+	1	0	OBSCN	226532107	1.000000	0.71417	0.416000	0.26546	0.295000	0.27426	8.672000	0.91181	2.252000	0.74401	0.462000	0.41574	GTC		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	62	0	0	0	0.047766	0	7	62				
ADAMTS5	11096	broad.mit.edu	37	21	28296446	28296446	+	Silent	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr21:28296446G>T	ENST00000284987.5	-	8	2840	c.2719C>A	c.(2719-2721)Cgg>Agg	p.R907R	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	907	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R907R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTAACTTCCGGTTTCCATCC	0.527																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			1	Substitution - coding silent(1)	p.R907R(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(2719-2721)Cgg>Agg		ADAM metallopeptidase with thrombospondin type 1 motif, 5							94.0	78.0	84.0					21																	28296446		2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296446G>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2719C>A	21.37:g.28296446G>T						AP001601.2_ENST00000426771.1_RNA	p.R907R	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			8	2840	-			907			TSP type-1 2.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.2719C>A	CCDS13579.1																																																																																				0.527	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			13	101	1	0	9.31168e-06	0.016723	1.09412e-05	13	101				
FAT1	2195	broad.mit.edu	37	4	187541443	187541443	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:187541443G>A	ENST00000441802.2	-	10	6506	c.6297C>T	c.(6295-6297)gtC>gtT	p.V2099V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2099	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATAGCGAATGACATGGCCCA	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(6295-6297)gtC>gtT		FAT atypical cadherin 1							172.0	165.0	168.0					4																	187541443		1995	4163	6158	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541443G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6297C>T	4.37:g.187541443G>A		HNSCC(5;0.00058)					p.V2099V	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	6506	-			2099			Cadherin 19.			Silent	SNP	ENST00000441802.2	37	c.6297C>T	CCDS47177.1																																																																																				0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		30	255	0	0	0	0.050027	0	30	255				
ADAMTS20	80070	broad.mit.edu	37	12	43944862	43944862	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:43944862G>A	ENST00000389420.3	-	2	302	c.303C>T	c.(301-303)gcC>gcT	p.A101A	ADAMTS20_ENST00000553158.1_Silent_p.A101A	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	101					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGTAGCCGGCGGCCAGAAAGG	0.682																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(301-303)gcC>gcT		ADAM metallopeptidase with thrombospondin type 1 motif, 20							46.0	48.0	47.0					12																	43944862		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944862G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.303C>T	12.37:g.43944862G>A						ADAMTS20_ENST00000553158.1_Silent_p.A101A	p.A101A	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	302	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	101					A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.303C>T	CCDS31778.2																																																																																				0.682	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		8	18	0	0	0	0.080935	0	8	18				
PTCH1	5727	broad.mit.edu	37	9	98238315	98238315	+	Splice_Site	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr9:98238315C>A	ENST00000331920.6	-	12	2028		c.e12+1		PTCH1_ENST00000429896.2_Splice_Site|PTCH1_ENST00000375274.2_Splice_Site|PTCH1_ENST00000430669.2_Splice_Site|PTCH1_ENST00000418258.1_Splice_Site|PTCH1_ENST00000437951.1_Splice_Site|PTCH1_ENST00000421141.1_Splice_Site	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1						brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CAGAAGCTCACCTGGAGGGAG	0.567																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.e12+1		patched 1							58.0	47.0	50.0					9																	98238315		2203	4300	6503	SO:0001630	splice_region_variant	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98238315C>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1728+1G>T	9.37:g.98238315C>A						PTCH1_ENST00000429896.2_Splice_Site|PTCH1_ENST00000437951.1_Splice_Site|PTCH1_ENST00000331920.6_Splice_Site|PTCH1_ENST00000418258.1_Splice_Site|PTCH1_ENST00000375274.2_Splice_Site|PTCH1_ENST00000421141.1_Splice_Site				Q13635	PTC1_HUMAN			12	2116	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)						A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Splice_Site	SNP	ENST00000331920.6	37		CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931701	0.92389	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTCH1	97278136	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.445000	0.80570	2.805000	0.96524	0.655000	0.94253	.		0.567	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	Intron	24	41	1	0	2.41591e-17	0.024334	3.20757e-17	24	41				
SPTLC2	9517	broad.mit.edu	37	14	78063666	78063666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr14:78063666C>A	ENST00000216484.2	-	2	383	c.190G>T	c.(190-192)Gaa>Taa	p.E64*		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	64				EAFE -> TLAR (in Ref. 5; AAC50871). {ECO:0000305}.	ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GGTGTTTCTTCAAAAGCTTCA	0.383																																						ENST00000216484.2																			0				kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19						c.(190-192)Gaa>Taa		serine palmitoyltransferase, long chain base subunit 2	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						119.0	102.0	108.0					14																	78063666		2203	4300	6503	SO:0001587	stop_gained	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:78063666C>A	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.190G>T	14.37:g.78063666C>A	ENSP00000216484:p.Glu64*						p.E64*	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	2	383	-			64	EAFE -> TLAR (in Ref. 5; AAC50871).				Q16685	Nonsense_Mutation	SNP	ENST00000216484.2	37	c.190G>T	CCDS9865.1	.	.	.	.	.	.	.	.	.	.	C	41	8.899481	0.98996	.	.	ENSG00000100596	ENST00000216484	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-19.7774	18.3906	0.90481	0.0:1.0:0.0:0.0	.	.	.	.	X	64	.	ENSP00000216484:E64X	E	-	1	0	SPTLC2	77133419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.688000	0.84153	2.412000	0.81896	0.591000	0.81541	GAA		0.383	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		5	80	1	0	0.0215528	0.021553	0.0228149	5	80				
APLNR	187	broad.mit.edu	37	11	57003872	57003872	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:57003872C>G	ENST00000606794.1	-	1	803	c.607G>C	c.(607-609)Gtc>Ctc	p.V203L		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	203					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GTGGACGAGACCCCAAGGCCC	0.592																																						ENST00000606794.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(607-609)Gtc>Ctc		apelin receptor							121.0	100.0	107.0					11																	57003872		2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003872C>G	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.607G>C	11.37:g.57003872C>G	ENSP00000475344:p.Val203Leu						p.V203L	NM_005161.4	NP_005152.1	P35414	APJ_HUMAN			1	803	-			203						Missense_Mutation	SNP	ENST00000606794.1	37	c.607G>C	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.656392	0.00779	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.71341	-0.56	5.25	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.317042	0.29602	N	0.011682	T	0.31263	0.0791	N	0.00873	-1.125	0.27189	N	0.960477	B	0.06786	0.001	B	0.12156	0.007	T	0.38735	-0.9647	10	0.02654	T	1	-33.9465	7.539	0.27727	0.0:0.5301:0.3165:0.1534	.	203	P35414	APJ_HUMAN	L	203;84;122	ENSP00000257254:V203L	ENSP00000257254:V203L	V	-	1	0	APLNR	56760448	0.002000	0.14202	0.380000	0.26093	0.643000	0.38383	-0.134000	0.10436	0.200000	0.20447	0.555000	0.69702	GTC		0.592	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		8	69	0	0	0	0.038147	0	8	69				
ARHGEF17	9828	broad.mit.edu	37	11	73074856	73074856	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:73074856G>A	ENST00000263674.3	+	16	5661	c.5311G>A	c.(5311-5313)Gcg>Acg	p.A1771T		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1771					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCTCCAGCATGCGGCCTCTGT	0.582																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(5311-5313)Gcg>Acg		Rho guanine nucleotide exchange factor (GEF) 17							127.0	108.0	115.0					11																	73074856		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73074856G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5311G>A	11.37:g.73074856G>A	ENSP00000263674:p.Ala1771Thr						p.A1771T	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			16	5661	+			1771					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.5311G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049485	0.36181	.	.	ENSG00000110237	ENST00000263674	T	0.60672	0.17	5.61	2.71	0.32032	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.442375	0.26855	N	0.022142	T	0.32194	0.0821	N	0.08118	0	0.25656	N	0.986051	B	0.17038	0.02	B	0.13407	0.009	T	0.17715	-1.0360	10	0.51188	T	0.08	-2.1767	5.6754	0.17745	0.144:0.0:0.5789:0.2772	.	1771	Q96PE2	ARHGH_HUMAN	T	1771	ENSP00000263674:A1771T	ENSP00000263674:A1771T	A	+	1	0	ARHGEF17	72752504	0.128000	0.22383	0.022000	0.16811	0.936000	0.57629	0.538000	0.23160	0.410000	0.25675	0.655000	0.94253	GCG		0.582	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		17	85	0	0	0	0.038395	0	17	85				
NRD1	4898	broad.mit.edu	37	1	52289446	52289446	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:52289446G>A	ENST00000354831.7	-	9	1442	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M	NRD1_ENST00000544028.1_Missense_Mutation_p.T218M|NRD1_ENST00000539524.1_Missense_Mutation_p.T286M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.T350M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	349					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATGCTTGAGCGTCTCAGCATT	0.313																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1252-1254)aCg>aTg		nardilysin (N-arginine dibasic convertase)							67.0	65.0	66.0					1																	52289446		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52289446G>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1253C>T	1.37:g.52289446G>A	ENSP00000346890:p.Thr418Met					NRD1_ENST00000539524.1_Missense_Mutation_p.T286M|NRD1_ENST00000352171.7_Missense_Mutation_p.T350M|NRD1_ENST00000544028.1_Missense_Mutation_p.T218M|NRD1_ENST00000485608.1_5'UTR	p.T418M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			9	1442	-			349					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.1253C>T	CCDS559.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.368929	0.82463	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.38	5.38	0.77491	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	H	0.96489	3.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.988;0.988	T	0.83009	-0.0173	10	0.87932	D	0	-9.9994	19.1375	0.93433	0.0:0.0:1.0:0.0	.	350;349;418	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	M	350;418;286;350;218	ENSP00000262679:T350M;ENSP00000346890:T418M;ENSP00000444416:T286M;ENSP00000442262:T218M	ENSP00000262679:T350M	T	-	2	0	NRD1	52062034	1.000000	0.71417	0.998000	0.56505	0.840000	0.47671	9.351000	0.97073	2.532000	0.85374	0.655000	0.94253	ACG		0.313	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		6	84	0	0	0	0.021553	0	6	84				
CEP89	84902	broad.mit.edu	37	19	33370188	33370188	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:33370188G>A	ENST00000305768.5	-	19	2320	c.2232C>T	c.(2230-2232)ggC>ggT	p.G744G	CTD-2085J24.4_ENST00000586628.2_lincRNA	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	744					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TGTCCTGCACGCCTGTCCTCG	0.537																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(2230-2232)ggC>ggT		centrosomal protein 89kDa							162.0	156.0	158.0					19																	33370188		2203	4300	6503	SO:0001819	synonymous_variant	84902					centrosome|spindle pole		g.chr19:33370188G>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.2232C>T	19.37:g.33370188G>A							p.G744G	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			19	2320	-			744					B9EGA6|Q8N5J8	Silent	SNP	ENST00000305768.5	37	c.2232C>T	CCDS32987.1																																																																																				0.537	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		21	255	0	0	0	0.069288	0	21	255				
SLFN13	146857	broad.mit.edu	37	17	33767957	33767957	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:33767957G>T	ENST00000285013.6	-	6	2626	c.2351C>A	c.(2350-2352)aCt>aAt	p.T784N	SLFN13_ENST00000360502.2_Missense_Mutation_p.T466N|SLFN13_ENST00000526861.1_Missense_Mutation_p.T784N|SLFN13_ENST00000533791.1_Missense_Mutation_p.T784N|SLFN13_ENST00000534689.1_Missense_Mutation_p.T466N|SLFN13_ENST00000542635.1_Missense_Mutation_p.T784N	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	784						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTGCTCCAAAGTAAAGTTTTT	0.443																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(2350-2352)aCt>aAt		schlafen family member 13							75.0	75.0	75.0					17																	33767957		2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33767957G>T	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2351C>A	17.37:g.33767957G>T	ENSP00000285013:p.Thr784Asn					SLFN13_ENST00000533791.1_Missense_Mutation_p.T784N|SLFN13_ENST00000534689.1_Missense_Mutation_p.T466N|SLFN13_ENST00000360502.2_Missense_Mutation_p.T466N|SLFN13_ENST00000542635.1_Missense_Mutation_p.T784N|SLFN13_ENST00000526861.1_Missense_Mutation_p.T784N	p.T784N	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	6	2626	-			784					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.2351C>A	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	g	7.415	0.635553	0.14322	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	3.26	-6.51	0.01878	.	2.333100	0.01906	N	0.039535	T	0.66446	0.2790	L	0.56199	1.76	0.09310	N	1	B;P	0.37781	0.063;0.608	B;B	0.27500	0.023;0.08	T	0.58233	-0.7672	10	0.25106	T	0.35	.	2.771	0.05334	0.1492:0.4631:0.232:0.1557	.	466;784	Q68D06-2;Q68D06	.;SLN13_HUMAN	N	784;466;784;784;466	ENSP00000285013:T784N;ENSP00000353692:T466N;ENSP00000434439:T784N;ENSP00000444016:T784N;ENSP00000435442:T466N	ENSP00000285013:T784N	T	-	2	0	SLFN13	30792070	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.594000	0.00211	-1.402000	0.02056	0.400000	0.26472	ACT		0.443	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		34	103	1	0	1.61788e-16	0.050027	2.13596e-16	34	103				
P2RY10	27334	broad.mit.edu	37	X	78216634	78216634	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chrX:78216634G>T	ENST00000171757.2	+	4	897	c.617G>T	c.(616-618)gGa>gTa	p.G206V	P2RY10_ENST00000544091.1_Missense_Mutation_p.G206V	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GAGCTTGCAGGATTTGTGATC	0.458																																						ENST00000171757.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(616-618)gGa>gTa		purinergic receptor P2Y, G-protein coupled, 10							177.0	130.0	146.0					X																	78216634		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216634G>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.617G>T	X.37:g.78216634G>T	ENSP00000171757:p.Gly206Val					P2RY10_ENST00000544091.1_Missense_Mutation_p.G206V	p.G206V	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN			4	897	+			206					D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.617G>T	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984411	0.74474	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.72051	-0.62;-0.62	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84656	0.5520	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86249	0.1648	10	0.51188	T	0.08	.	15.5411	0.76048	0.0:0.0:1.0:0.0	.	206	O00398	P2Y10_HUMAN	V	206	ENSP00000443138:G206V;ENSP00000171757:G206V	ENSP00000171757:G206V	G	+	2	0	P2RY10	78103290	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.347000	0.79356	2.231000	0.72958	0.540000	0.68198	GGA		0.458	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			10	56	1	0	3.07112e-06	0.080935	3.6267e-06	10	56				
PFAS	5198	broad.mit.edu	37	17	8170877	8170877	+	Silent	SNP	C	C	T	rs199846786		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:8170877C>T	ENST00000314666.6	+	26	3409	c.3276C>T	c.(3274-3276)gaC>gaT	p.D1092D	PFAS_ENST00000545834.1_Silent_p.D668D	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1092	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	AGGTATGGGACGTGACCATGC	0.637																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(3274-3276)gaC>gaT		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						157.0	134.0	142.0					17																	8170877		2203	4300	6503	SO:0001819	synonymous_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8170877C>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3276C>T	17.37:g.8170877C>T						PFAS_ENST00000545834.1_Silent_p.D668D	p.D1092D	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			26	3409	+			1092			Glutamine amidotransferase type-1.		A6H8V8	Silent	SNP	ENST00000314666.6	37	c.3276C>T	CCDS11136.1																																																																																				0.637	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			18	155	0	0	0	0.049695	0	18	155				
TRIM8	81603	broad.mit.edu	37	10	104416556	104416556	+	Silent	SNP	C	C	T	rs41300235	byFrequency	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:104416556C>T	ENST00000302424.7	+	6	1223	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	367					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.C367C(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGTACCCTTGCGGCGTGAGCA	0.647																																						ENST00000302424.6																			1	Substitution - coding silent(1)	p.C367C(1)	large_intestine(1)	endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1099-1101)tgC>tgT		tripartite motif containing 8		C		0,4406		0,0,2203	95.0	99.0	98.0		1101	-8.2	0.9	10	dbSNP_127	98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIM8	NM_030912.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		367/552	104416556	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104416556C>T	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1101C>T	10.37:g.104416556C>T						TRIM8_ENST00000487927.1_3'UTR	p.C367C	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	6	1223	+		Colorectal(252;0.122)	367					A6NI31|Q9C028	Silent	SNP	ENST00000302424.7	37	c.1101C>T	CCDS31274.1																																																																																				0.647	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		5	235	0	0	0	0.014758	0	5	235				
ZFP36L1	677	broad.mit.edu	37	14	69256577	69256577	+	Silent	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr14:69256577A>T	ENST00000439696.2	-	2	991	c.690T>A	c.(688-690)ccT>ccA	p.P230P	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.P230P	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	230					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGCTCAGAATAGGGGGTGGGG	0.637											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(688-690)ccT>ccA		ZFP36 ring finger protein-like 1							63.0	74.0	70.0					14																	69256577		2196	4284	6480	SO:0001819	synonymous_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256577A>T	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.690T>A	14.37:g.69256577A>T			OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000336440.3_Silent_p.P230P|ZFP36L1_ENST00000555997.1_3'UTR	p.P230P	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	991	-			230					Q13851	Silent	SNP	ENST00000439696.2	37	c.690T>A	CCDS9791.1																																																																																				0.637	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			20	197	0	0	0	0.055883	0	20	197				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		8	15	0	0	0	0.028581	0	8	15				
OR1Q1	158131	broad.mit.edu	37	9	125377720	125377720	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr9:125377720G>T	ENST00000297913.2	+	1	773	c.704G>T	c.(703-705)tGg>tTg	p.W235L	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	235					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						AAGGGCAGGTGGAAAACCTTT	0.557																																						ENST00000297913.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(703-705)tGg>tTg		olfactory receptor, family 1, subfamily Q, member 1							98.0	98.0	98.0					9																	125377720		2203	4300	6503	SO:0001583	missense	158131				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377720G>T		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.704G>T	9.37:g.125377720G>T	ENSP00000297913:p.Trp235Leu					RP11-64P14.7_ENST00000431442.1_RNA	p.W235L	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN			1	773	+			235					Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	c.704G>T	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321155	0.23994	.	.	ENSG00000165202	ENST00000297913	T	0.00048	8.82	5.57	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.150229	0.31734	N	0.007141	T	0.00073	0.0002	N	0.17564	0.495	0.09310	N	1	B	0.30146	0.27	B	0.28385	0.089	T	0.15549	-1.0433	10	0.46703	T	0.11	-7.2017	4.6264	0.12481	0.2015:0.0:0.6244:0.174	.	235	Q15612	OR1Q1_HUMAN	L	235	ENSP00000297913:W235L	ENSP00000297913:W235L	W	+	2	0	OR1Q1	124417541	0.000000	0.05858	0.971000	0.41717	0.969000	0.65631	-0.014000	0.12656	1.568000	0.49683	0.650000	0.86243	TGG		0.557	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			48	165	1	0	1.81118e-26	0.048971	2.43216e-26	48	165				
CHRM5	1133	broad.mit.edu	37	15	34355730	34355730	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:34355730G>T	ENST00000383263.5	+	3	1482	c.812G>T	c.(811-813)tGg>tTg	p.W271L	CHRM5_ENST00000557872.1_Missense_Mutation_p.W271L	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	271					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CAGGCCTCCTGGTCATCCTCC	0.612																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(811-813)tGg>tTg		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						50.0	49.0	50.0					15																	34355730		2201	4298	6499	SO:0001583	missense	1133				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355730G>T		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.812G>T	15.37:g.34355730G>T	ENSP00000372750:p.Trp271Leu					CHRM5_ENST00000557872.1_Missense_Mutation_p.W271L	p.W271L	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	1482	+		all_lung(180;1.76e-08)	271					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.812G>T	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	G	9.920	1.211893	0.22289	.	.	ENSG00000184984	ENST00000383263	T	0.61742	0.08	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.436137	0.25887	N	0.027643	T	0.74076	0.3669	M	0.76170	2.325	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	T	0.67538	-0.5645	10	0.15952	T	0.53	-9.2142	19.4084	0.94658	0.0:0.0:1.0:0.0	.	271	P08912	ACM5_HUMAN	L	271	ENSP00000372750:W271L	ENSP00000372750:W271L	W	+	2	0	CHRM5	32143022	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	9.587000	0.98229	2.820000	0.97059	0.650000	0.86243	TGG		0.612	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			8	109	1	0	0.0381472	0.038147	0.0402	8	109				
TAF15	8148	broad.mit.edu	37	17	34171147	34171147	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:34171147G>T	ENST00000588240.1	+	13	1188	c.1073G>T	c.(1072-1074)tGg>tTg	p.W358L	TAF15_ENST00000592237.1_Missense_Mutation_p.W267L|TAF15_ENST00000311979.3_Missense_Mutation_p.W355L	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGTGGGGATTGGGTTTGCCCT	0.527			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1072-1074)tGg>tTg		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							123.0	121.0	122.0					17																	34171147		2203	4300	6503	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171147G>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1073G>T	17.37:g.34171147G>T	ENSP00000466950:p.Trp358Leu					TAF15_ENST00000592237.1_Missense_Mutation_p.W267L|TAF15_ENST00000311979.3_Missense_Mutation_p.W355L	p.W358L	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	13	1188	+		Ovarian(249;0.17)	358			Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.1073G>T	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293460	0.80914	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	5.33	5.33	0.75918	Zinc finger, RanBP2-type (4);	.	.	.	.	D	0.90184	0.6932	H	0.97896	4.1	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.91635	0.999;0.998	D	0.93665	0.6985	8	0.87932	D	0	-2.8833	16.5208	0.84315	0.0:0.0:1.0:0.0	.	358;355	Q92804;Q92804-2	RBP56_HUMAN;.	L	358;161	.	ENSP00000309558:W358L	W	+	2	0	TAF15	31195260	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.177000	0.94849	2.500000	0.84329	0.591000	0.81541	TGG		0.527	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		17	212	1	0	1.45105e-14	0.038395	1.87361e-14	17	212				
IKZF1	10320	broad.mit.edu	37	7	50468217	50468217	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:50468217C>T	ENST00000331340.3	+	8	1607	c.1452C>T	c.(1450-1452)caC>caT	p.H484H	IKZF1_ENST00000438033.1_Silent_p.H397H|IKZF1_ENST00000346667.4_Silent_p.H254H|IKZF1_ENST00000349824.4_Silent_p.H341H|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000357364.4_Silent_p.H397H|IKZF1_ENST00000359197.5_Silent_p.H442H|IKZF1_ENST00000343574.5_Silent_p.H397H|IKZF1_ENST00000439701.1_Silent_p.H442H	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	484					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TGGGCTGCCACGGCTTCCGTG	0.587			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1450-1452)caC>caT		IKAROS family zinc finger 1 (Ikaros)							50.0	56.0	54.0					7																	50468217		2192	4297	6489	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50468217C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1452C>T	7.37:g.50468217C>T						IKZF1_ENST00000439701.1_Silent_p.H442H|IKZF1_ENST00000357364.4_Silent_p.H397H|IKZF1_ENST00000438033.1_Silent_p.H397H|IKZF1_ENST00000359197.5_Silent_p.H442H|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Silent_p.H397H|IKZF1_ENST00000346667.4_Silent_p.H254H|IKZF1_ENST00000349824.4_Silent_p.H341H	p.H484H	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			8	1607	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	484					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.1452C>T																																																																																					0.587	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		7	26	0	0	0	0.047766	0	7	26				
ZIK1	284307	broad.mit.edu	37	19	58101682	58101682	+	Missense_Mutation	SNP	G	G	A	rs568671837		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:58101682G>A	ENST00000597850.1	+	4	718	c.503G>A	c.(502-504)cGc>cAc	p.R168H	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.R155H|ZIK1_ENST00000599456.1_Missense_Mutation_p.R113H	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAGCCCTTTCGCAAATGGGAG	0.502																																						ENST00000597850.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(502-504)cGc>cAc		zinc finger protein interacting with K protein 1							74.0	68.0	70.0					19																	58101682		2203	4300	6503	SO:0001583	missense	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101682G>A	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.503G>A	19.37:g.58101682G>A	ENSP00000472867:p.Arg168His					ZIK1_ENST00000599456.1_Missense_Mutation_p.R113H|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.R155H	p.R168H	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	718	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	168					O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	c.503G>A	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	9.316	1.056935	0.19907	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.05081	3.5	2.97	-3.35	0.04928	.	.	.	.	.	T	0.04497	0.0123	L	0.43923	1.385	0.09310	N	1	B;P	0.34934	0.379;0.476	B;B	0.27887	0.084;0.082	T	0.30937	-0.9961	9	0.56958	D	0.05	.	4.3306	0.11062	0.0:0.3338:0.1889:0.4772	.	155;168	F5H435;Q3SY52	.;ZIK1_HUMAN	H	155;149;168	ENSP00000438487:R155H	ENSP00000303820:R168H	R	+	2	0	ZIK1	62793494	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.838000	0.04372	-0.588000	0.05882	-2.165000	0.00325	CGC		0.502	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		5	81	0	0	0	0.029380	0	5	81				
ZNF366	167465	broad.mit.edu	37	5	71756160	71756160	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:71756160C>T	ENST00000318442.5	-	2	1654	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	388					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGATGGGGCCCCGGTGCGTGG	0.612																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1162-1164)cgG>cgA		zinc finger protein 366							110.0	92.0	98.0					5																	71756160		2203	4300	6503	SO:0001819	synonymous_variant	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756160C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1164G>A	5.37:g.71756160C>T							p.R388R	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1654	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	388					Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.1164G>A	CCDS4015.1																																																																																				0.612	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			8	57	0	0	0	0.058154	0	8	57				
SLC25A27	9481	broad.mit.edu	37	6	46644143	46644143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:46644143G>A	ENST00000371347.5	+	9	1176	c.924G>A	c.(922-924)tgG>tgA	p.W308*	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|SLC25A27_ENST00000411689.2_Intron|SLC25A27_ENST00000452689.2_Nonsense_Mutation_p.W222*	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	308					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			TGGTGTTCTGGCTTACTTATG	0.328																																						ENST00000371347.5																			0				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8						c.(922-924)tgG>tgA		solute carrier family 25, member 27							132.0	123.0	126.0					6																	46644143		1838	4095	5933	SO:0001587	stop_gained	9481				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		g.chr6:46644143G>A	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"""Solute carriers"""	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.924G>A	6.37:g.46644143G>A	ENSP00000360398:p.Trp308*					RP11-446F17.3_ENST00000422284.2_RNA|SLC25A27_ENST00000411689.2_Intron|RP11-446F17.3_ENST00000571590.1_RNA|SLC25A27_ENST00000452689.2_Nonsense_Mutation_p.W222*|RP11-446F17.3_ENST00000434329.2_RNA	p.W308*	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	Lung(136;0.192)		9	1176	+			308					F5GWR4|Q5VTS9|Q8N518	Nonsense_Mutation	SNP	ENST00000371347.5	37	c.924G>A	CCDS43470.1	.	.	.	.	.	.	.	.	.	.	G	41	9.011263	0.99035	.	.	ENSG00000153291	ENST00000371347;ENST00000452689	.	.	.	5.72	5.72	0.89469	.	0.081659	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-5.2428	17.3698	0.87373	0.0:0.0:1.0:0.0	.	.	.	.	X	308;222	.	ENSP00000360398:W308X	W	+	3	0	SLC25A27	46752102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.713000	0.74686	2.709000	0.92574	0.591000	0.81541	TGG		0.328	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277		14	96	0	0	0	0.033300	0	14	96				
BRSK1	84446	broad.mit.edu	37	19	55815119	55815119	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:55815119G>A	ENST00000309383.1	+	12	1488	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N	BRSK1_ENST00000326848.7_Missense_Mutation_p.S99N|BRSK1_ENST00000590333.1_Missense_Mutation_p.S420N	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	404					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GAAGTCCTGAGCATCACCGAT	0.662																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(1210-1212)aGc>aAc		BR serine/threonine kinase 1							59.0	67.0	65.0					19																	55815119		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55815119G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1211G>A	19.37:g.55815119G>A	ENSP00000310649:p.Ser404Asn					BRSK1_ENST00000326848.7_Missense_Mutation_p.S99N|BRSK1_ENST00000590333.1_Missense_Mutation_p.S420N	p.S404N	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	12	1488	+		Renal(1328;0.245)	404					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.1211G>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.063332	0.76187	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.72942	-0.7;1.7	3.86	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.81814	0.4902	M	0.76574	2.34	0.40106	D	0.976432	D;D	0.58970	0.972;0.984	P;D	0.63703	0.829;0.917	D	0.85059	0.0933	10	0.62326	D	0.03	.	15.1104	0.72351	0.0:0.0:1.0:0.0	.	404;420	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	N	404;99;99	ENSP00000310649:S404N;ENSP00000320853:S99N	ENSP00000310649:S404N	S	+	2	0	BRSK1	60506931	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.240000	0.78192	2.175000	0.68902	0.561000	0.74099	AGC		0.662	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		11	158	0	0	0	0.080935	0	11	158				
ARHGAP21	57584	broad.mit.edu	37	10	24909529	24909529	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:24909529C>T	ENST00000396432.2	-	9	1781	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R219H	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	431					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CAAAGTAGTGCGGTTGGGGAC	0.488																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(1294-1296)cGc>cAc		Rho GTPase activating protein 21							122.0	114.0	117.0					10																	24909529		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24909529C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1295G>A	10.37:g.24909529C>T	ENSP00000379709:p.Arg432His					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R219H	p.R432H	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	1781	-			431					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.1295G>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517818	0.44763	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.50548	2.7;2.79;0.74;0.75	5.71	5.71	0.89125	.	0.050596	0.85682	D	0.000000	T	0.48840	0.1522	M	0.68317	2.08	0.39240	D	0.963843	B;B	0.32409	0.37;0.132	B;B	0.25291	0.059;0.026	T	0.50372	-0.8836	10	0.40728	T	0.16	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	422;431	F8W9U9;Q5T5U3	.;RHG21_HUMAN	H	432;421;219;422;432;267	ENSP00000379709:R432H;ENSP00000365604:R219H;ENSP00000365592:R422H;ENSP00000405018:R432H	ENSP00000365604:R219H	R	-	2	0	ARHGAP21	24949535	1.000000	0.71417	0.929000	0.37066	0.883000	0.51084	3.470000	0.53100	2.861000	0.98227	0.650000	0.86243	CGC		0.488	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		4	132	0	0	0	0.014758	0	4	132				
BTBD3	22903	broad.mit.edu	37	20	11903518	11903518	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:11903518C>A	ENST00000405977.1	+	5	1398	c.773C>A	c.(772-774)tCt>tAt	p.S258Y	BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000254977.3_Missense_Mutation_p.S197Y|BTBD3_ENST00000399006.2_Missense_Mutation_p.S197Y|BTBD3_ENST00000378226.2_Missense_Mutation_p.S258Y	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	258	BACK.				cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GCTCTCAAGTCTGAGGGATTC	0.517																																						ENST00000405977.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(772-774)tCt>tAt		BTB (POZ) domain containing 3							77.0	81.0	79.0					20																	11903518		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11903518C>A	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.773C>A	20.37:g.11903518C>A	ENSP00000384545:p.Ser258Tyr					BTBD3_ENST00000399006.2_Missense_Mutation_p.S197Y|BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000254977.3_Missense_Mutation_p.S197Y|BTBD3_ENST00000378226.2_Missense_Mutation_p.S258Y	p.S258Y			Q9Y2F9	BTBD3_HUMAN			5	1398	+			258					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.773C>A	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780505	0.70222	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	5.95	5.95	0.96441	BTB/Kelch-associated (2);	0.095460	0.85682	D	0.000000	D	0.87038	0.6078	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89114	0.3498	10	0.87932	D	0	.	14.9338	0.70938	0.0:0.8577:0.1423:0.0	.	258	Q9Y2F9	BTBD3_HUMAN	Y	197;197;258;258	ENSP00000254977:S197Y;ENSP00000381971:S197Y;ENSP00000384545:S258Y;ENSP00000367471:S258Y	ENSP00000254977:S197Y	S	+	2	0	BTBD3	11851518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.005000	0.70716	2.827000	0.97445	0.650000	0.86243	TCT		0.517	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			13	117	1	0	1.49906e-05	0.020292	1.74395e-05	13	117				
ADH1B	125	broad.mit.edu	37	4	100242501	100242501	+	De_novo_Start_OutOfFrame	SNP	T	T	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:100242501T>A	ENST00000305046.8	-	0	55				ADH1B_ENST00000394887.3_De_novo_Start_OutOfFrame|ADH1B_ENST00000504498.1_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CGTTTCTGTCTTCTCTGCCCA	0.348																																						ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33								alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						149.0	142.0	145.0					4																	100242501		2203	4300	6503			125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100242501T>A	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.-13A>T	4.37:g.100242501T>A						ADH1B_ENST00000504498.1_5'UTR|ADH1B_ENST00000394887.3_De_novo_Start_OutOfFrame				P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	0	55	-								A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Translation_Start_Site	SNP	ENST00000305046.8	37		CCDS34033.1																																																																																				0.348	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		39	145	0	0	0	0.030466	0	39	145				
RPUSD2	27079	broad.mit.edu	37	15	40866110	40866110	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:40866110C>A	ENST00000315616.7	+	3	1326	c.1288C>A	c.(1288-1290)Ctc>Atc	p.L430I	RPUSD2_ENST00000559271.1_Missense_Mutation_p.L369I	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	430					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TGTGCTAGATCTCTGTGAGGG	0.597																																						ENST00000315616.7																			0				kidney(4)|lung(4)|skin(3)	11						c.(1288-1290)Ctc>Atc		RNA pseudouridylate synthase domain containing 2							70.0	71.0	71.0					15																	40866110		2203	4300	6503	SO:0001583	missense	27079				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr15:40866110C>A	AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.1288C>A	15.37:g.40866110C>A	ENSP00000323288:p.Leu430Ile					RPUSD2_ENST00000559271.1_Missense_Mutation_p.L369I	p.L430I	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)	3	1326	+		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	430					B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	ENST00000315616.7	37	c.1288C>A	CCDS10061.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847790	0.32606	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.32515	1.45	5.36	5.36	0.76844	Pseudouridine synthase, catalytic domain (1);	0.390200	0.28459	N	0.015274	T	0.22666	0.0547	L	0.41824	1.3	0.33965	D	0.646054	B	0.18166	0.026	B	0.16289	0.015	T	0.18999	-1.0319	10	0.21014	T	0.42	-22.0024	8.8011	0.34909	0.258:0.6037:0.1382:0.0	.	430	Q8IZ73	RUSD2_HUMAN	I	430;409	ENSP00000323288:L430I	ENSP00000323288:L430I	L	+	1	0	RPUSD2	38653402	0.009000	0.17119	1.000000	0.80357	0.997000	0.91878	-0.203000	0.09438	2.797000	0.96272	0.563000	0.77884	CTC		0.597	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	NM_152260		16	123	1	0	1.15919e-05	0.049695	1.35527e-05	16	123				
GRID1	2894	broad.mit.edu	37	10	87614257	87614257	+	Missense_Mutation	SNP	C	C	T	rs570660703		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:87614257C>T	ENST00000327946.7	-	8	1314	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	410					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GCTTACCTTGCGCATGTCTTT	0.512										Multiple Myeloma(13;0.14)			C|||	1	0.000199681	0.0	0.0	5008	,	,		21935	0.001		0.0	False		,,,				2504	0.0					ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(1228-1230)cGc>cAc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						127.0	110.0	116.0					10																	87614257		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87614257C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1229G>A	10.37:g.87614257C>T	ENSP00000330148:p.Arg410His	Multiple Myeloma(13;0.14)					p.R410H	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			8	1314	-			410					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1229G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616647	0.87359	.	.	ENSG00000182771	ENST00000327946	D	0.86432	-2.12	5.79	5.79	0.91817	.	0.558823	0.17213	N	0.182625	D	0.82360	0.5020	N	0.24115	0.695	0.80722	D	1	D	0.55385	0.971	B	0.42188	0.379	D	0.85237	0.1036	10	0.87932	D	0	.	19.025	0.92929	0.0:1.0:0.0:0.0	.	410	Q9ULK0	GRID1_HUMAN	H	410	ENSP00000330148:R410H	ENSP00000330148:R410H	R	-	2	0	GRID1	87604237	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.142000	0.64820	2.735000	0.93741	0.563000	0.77884	CGC		0.512	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		9	65	0	0	0	0.047766	0	9	65				
TFEC	22797	broad.mit.edu	37	7	115624314	115624314	+	Splice_Site	SNP	A	A	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:115624314A>G	ENST00000265440.7	-	2	361		c.e2+1		TFEC_ENST00000320239.7_Splice_Site|TFEC_ENST00000484212.1_Splice_Site|TFEC_ENST00000393485.1_Splice_Site	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC						cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CATTAGACATACATGCCATTG	0.363																																						ENST00000265440.7																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.e2+1		transcription factor EC							135.0	133.0	134.0					7																	115624314		2203	4300	6503	SO:0001630	splice_region_variant	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115624314A>G	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.180+1T>C	7.37:g.115624314A>G						TFEC_ENST00000484212.1_Splice_Site|TFEC_ENST00000393485.1_Splice_Site|TFEC_ENST00000320239.7_Splice_Site		NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	361	-								B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Splice_Site	SNP	ENST00000265440.7	37		CCDS5762.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.862322	0.71949	.	.	ENSG00000105967	ENST00000265440;ENST00000320239;ENST00000393485;ENST00000484212	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6623	0.56822	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TFEC	115411550	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.187000	0.65087	2.026000	0.59711	0.533000	0.62120	.		0.363	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252	Intron	18	229	0	0	0	0.043863	0	18	229				
ABAT	18	broad.mit.edu	37	16	8866736	8866736	+	Missense_Mutation	SNP	G	G	A	rs544512086		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:8866736G>A	ENST00000396600.2	+	12	1854	c.916G>A	c.(916-918)Gat>Aat	p.D306N	ABAT_ENST00000567812.1_Missense_Mutation_p.D321N|ABAT_ENST00000268251.8_Missense_Mutation_p.D306N|ABAT_ENST00000425191.2_Missense_Mutation_p.D306N|ABAT_ENST00000569156.1_Missense_Mutation_p.D306N	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	306					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CCACGCATCCGATGACTTCTT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		15049	0.001		0.0	False		,,,				2504	0.0					ENST00000396600.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(916-918)Gat>Aat		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						87.0	72.0	77.0					16																	8866736		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8866736G>A	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.916G>A	16.37:g.8866736G>A	ENSP00000379845:p.Asp306Asn					ABAT_ENST00000268251.8_Missense_Mutation_p.D306N|ABAT_ENST00000567812.1_Missense_Mutation_p.D321N|ABAT_ENST00000569156.1_Missense_Mutation_p.D306N|ABAT_ENST00000425191.2_Missense_Mutation_p.D306N	p.D306N	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			12	1854	+			306					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.916G>A	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878816	0.51801	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.77750	-1.12;-1.12;-1.12	5.05	5.05	0.67936	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.176697	0.49305	D	0.000141	T	0.72455	0.3462	L	0.44542	1.39	0.38590	D	0.950394	B	0.29716	0.255	B	0.26770	0.073	T	0.75654	-0.3243	10	0.72032	D	0.01	-11.86	17.3896	0.87426	0.0:0.0:1.0:0.0	.	306	P80404	GABT_HUMAN	N	306	ENSP00000268251:D306N;ENSP00000379845:D306N;ENSP00000411916:D306N	ENSP00000268251:D306N	D	+	1	0	ABAT	8774237	1.000000	0.71417	0.847000	0.33407	0.612000	0.37316	4.909000	0.63314	2.335000	0.79485	0.561000	0.74099	GAT		0.552	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		5	56	0	0	0	0.014758	0	5	56				
CTNND2	1501	broad.mit.edu	37	5	11364871	11364871	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:11364871G>T	ENST00000304623.8	-	8	1498	c.1309C>A	c.(1309-1311)Ctc>Atc	p.L437I	CTNND2_ENST00000458100.2_Missense_Mutation_p.L4I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.L100I|CTNND2_ENST00000359640.2_Missense_Mutation_p.L437I|CTNND2_ENST00000511377.1_Missense_Mutation_p.L346I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	437					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						CTCTGGCTGAGACTCCTCATA	0.627																																						ENST00000304623.8																			0				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						c.(1309-1311)Ctc>Atc		catenin (cadherin-associated protein), delta 2							43.0	47.0	46.0					5																	11364871		2203	4300	6503	SO:0001583	missense	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.chr5:11364871G>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.1309C>A	5.37:g.11364871G>T	ENSP00000307134:p.Leu437Ile					CTNND2_ENST00000503622.1_Missense_Mutation_p.L100I|CTNND2_ENST00000458100.2_Missense_Mutation_p.L4I|CTNND2_ENST00000359640.2_Missense_Mutation_p.L437I|CTNND2_ENST00000511377.1_Missense_Mutation_p.L346I|CTNND2_ENST00000495388.2_5'UTR	p.L437I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			8	1498	-			437					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1309C>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312629	0.40895	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622;ENST00000502551	T;T;T;T;T	0.80653	-1.04;-1.12;-1.04;-1.4;-1.13	5.47	5.47	0.80525	.	0.534882	0.16884	N	0.195561	T	0.72795	0.3505	L	0.38175	1.15	0.38081	D	0.936667	B;B;P	0.39282	0.267;0.243;0.666	B;B;B	0.33339	0.04;0.066;0.162	T	0.73020	-0.4114	10	0.23302	T	0.38	-13.0242	19.3321	0.94295	0.0:0.0:1.0:0.0	.	100;4;437	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	I	437;437;346;4;100;177	ENSP00000307134:L437I;ENSP00000352661:L437I;ENSP00000426510:L346I;ENSP00000391155:L4I;ENSP00000426887:L100I	ENSP00000307134:L437I	L	-	1	0	CTNND2	11417871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.519000	0.67074	2.581000	0.87130	0.655000	0.94253	CTC		0.627	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		6	66	1	0	4.096e-09	0.021553	5.06611e-09	6	66				
ATP13A3	79572	broad.mit.edu	37	3	194182898	194182898	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:194182898T>C	ENST00000439040.1	-	3	813	c.22A>G	c.(22-24)Acc>Gcc	p.T8A	ATP13A3_ENST00000256031.4_Missense_Mutation_p.T8A			Q9H7F0	AT133_HUMAN	ATPase type 13A3	8						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)		TGATTGATGGTCTTCCTTTCT	0.408																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(22-24)Acc>Gcc		ATPase type 13A3							140.0	128.0	131.0					3																	194182898		1901	4132	6033	SO:0001583	missense	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.chr3:194182898T>C	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.22A>G	3.37:g.194182898T>C	ENSP00000416508:p.Thr8Ala					ATP13A3_ENST00000256031.4_Missense_Mutation_p.T8A	p.T8A			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)	3	813	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	8					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.22A>G	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.063887	0.36373	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000457986;ENST00000446356	D;D;T	0.85556	-2.0;-2.0;0.97	5.7	5.7	0.88788	.	0.574337	0.18789	N	0.131118	T	0.77505	0.4140	L	0.40543	1.245	0.22552	N	0.998995	B	0.13594	0.008	B	0.12837	0.008	T	0.61744	-0.7000	10	0.20046	T	0.44	-3.651	9.2912	0.37789	0.1602:0.0:0.0:0.8398	.	8	Q9H7F0	AT133_HUMAN	A	8	ENSP00000416508:T8A;ENSP00000256031:T8A;ENSP00000406234:T8A	ENSP00000256031:T8A	T	-	1	0	ATP13A3	195664187	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	2.262000	0.43285	2.175000	0.68902	0.383000	0.25322	ACC		0.408	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		10	138	0	0	0	0.080935	0	10	138				
TRPC4	7223	broad.mit.edu	37	13	38237583	38237583	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:38237583C>A	ENST00000379705.3	-	6	2515	c.1658G>T	c.(1657-1659)aGa>aTa	p.R553I	TRPC4_ENST00000447043.1_Missense_Mutation_p.R553I|TRPC4_ENST00000358477.2_Missense_Mutation_p.R553I|TRPC4_ENST00000355779.2_Missense_Mutation_p.R553I|TRPC4_ENST00000338947.5_Missense_Mutation_p.R380I|TRPC4_ENST00000379681.3_Missense_Mutation_p.R553I|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.R553I|TRPC4_ENST00000379679.1_Missense_Mutation_p.R380I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	553					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTTTCACATCTTATGCCTTT	0.353																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(1657-1659)aGa>aTa		transient receptor potential cation channel, subfamily C, member 4							81.0	77.0	78.0					13																	38237583		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38237583C>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1658G>T	13.37:g.38237583C>A	ENSP00000369027:p.Arg553Ile					TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379681.3_Missense_Mutation_p.R553I|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.R380I|TRPC4_ENST00000379673.2_Missense_Mutation_p.R553I|TRPC4_ENST00000355779.2_Missense_Mutation_p.R553I|TRPC4_ENST00000447043.1_Missense_Mutation_p.R553I|TRPC4_ENST00000338947.5_Missense_Mutation_p.R380I|TRPC4_ENST00000358477.2_Missense_Mutation_p.R553I	p.R553I			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	6	2515	-			553					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1658G>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132025	0.94473	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98;-4.98	6.08	6.08	0.98989	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98435	0.9479	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D;D	0.69078	0.981;0.991;0.997;0.995;0.965;0.986	P;P;D;D;P;D	0.80764	0.786;0.817;0.994;0.981;0.786;0.922	D	0.98718	1.0707	10	0.46703	T	0.11	-16.2771	20.6634	0.99662	0.0:1.0:0.0:0.0	.	553;553;553;380;553;553	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	I	553;553;380;380;553;553;553;553	ENSP00000369027:R553I;ENSP00000369003:R553I;ENSP00000342580:R380I;ENSP00000369001:R380I;ENSP00000348025:R553I;ENSP00000351264:R553I;ENSP00000368995:R553I;ENSP00000414316:R553I	ENSP00000342580:R380I	R	-	2	0	TRPC4	37135583	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	AGA		0.353	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		10	65	1	0	2.80697e-09	0.080935	3.49015e-09	10	65				
SMURF1	57154	broad.mit.edu	37	7	98655145	98655145	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:98655145A>C	ENST00000361125.1	-	4	552	c.233T>G	c.(232-234)aTt>aGt	p.I78S	SMURF1_ENST00000480055.1_5'UTR|SMURF1_ENST00000361368.2_Missense_Mutation_p.I78S	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	78	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CCACACGCTAATGGTTATCGA	0.378																																						ENST00000361125.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25						c.(232-234)aTt>aGt		SMAD specific E3 ubiquitin protein ligase 1							117.0	119.0	118.0					7																	98655145		2203	4300	6503	SO:0001583	missense	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98655145A>C	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.233T>G	7.37:g.98655145A>C	ENSP00000354621:p.Ile78Ser					SMURF1_ENST00000480055.1_5'UTR|SMURF1_ENST00000361368.2_Missense_Mutation_p.I78S	p.I78S	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		4	552	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		78			C2.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.233T>G	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.795796	0.90453	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.72505	-0.66;-0.66	6.02	6.02	0.97574	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.042722	0.85682	D	0.000000	D	0.89339	0.6687	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	0.999;0.98;1.0	D;P;D	0.79784	0.984;0.907;0.993	D	0.92534	0.6036	10	0.87932	D	0	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	78;78;78	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	S	78	ENSP00000355326:I78S;ENSP00000354621:I78S	ENSP00000354621:I78S	I	-	2	0	SMURF1	98493081	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.310000	0.96267	2.311000	0.77944	0.533000	0.62120	ATT		0.378	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		8	57	0	0	0	0.047766	0	8	57				
ASTN2	23245	broad.mit.edu	37	9	119976896	119976896	+	Silent	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr9:119976896G>T	ENST00000313400.4	-	3	856	c.756C>A	c.(754-756)atC>atA	p.I252I	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.I252I|ASTN2_ENST00000373996.3_Silent_p.I252I			O75129	ASTN2_HUMAN	astrotactin 2	252					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGATGTAGTGGATCTCATGAG	0.627																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(754-756)atC>atA		astrotactin 2							78.0	69.0	72.0					9																	119976896		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119976896G>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.756C>A	9.37:g.119976896G>T						ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.I252I|ASTN2_ENST00000373996.3_Silent_p.I252I	p.I252I			O75129	ASTN2_HUMAN			3	856	-			252					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.756C>A																																																																																					0.627	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		34	44	1	0	1.06647e-15	0.064281	1.40012e-15	34	44				
CNTN6	27255	broad.mit.edu	37	3	1414632	1414632	+	Silent	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:1414632T>C	ENST00000446702.2	+	14	2406	c.1779T>C	c.(1777-1779)atT>atC	p.I593I	CNTN6_ENST00000539053.1_Silent_p.I521I|CNTN6_ENST00000350110.2_Silent_p.I593I			Q9UQ52	CNTN6_HUMAN	contactin 6	593					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCGATATCATTGTTAGAGGTA	0.358																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1777-1779)atT>atC		contactin 6							100.0	105.0	104.0					3																	1414632		2203	4300	6503	SO:0001819	synonymous_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1414632T>C	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1779T>C	3.37:g.1414632T>C						CNTN6_ENST00000350110.2_Silent_p.I593I|CNTN6_ENST00000539053.1_Silent_p.I521I	p.I593I			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	14	2406	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	593					Q2KHM2	Silent	SNP	ENST00000446702.2	37	c.1779T>C	CCDS2557.1																																																																																				0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		3	97	0	0	0	0.047766	0	3	97				
ZNF354B	117608	broad.mit.edu	37	5	178310010	178310010	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:178310010C>T	ENST00000322434.3	+	5	783	c.557C>T	c.(556-558)tCa>tTa	p.S186L	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	186					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(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAACTCCATCAAAATGTGAA	0.308																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(556-558)tCa>tTa		zinc finger protein 354B							35.0	37.0	37.0					5																	178310010		2199	4289	6488	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310010C>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.557C>T	5.37:g.178310010C>T	ENSP00000327143:p.Ser186Leu						p.S186L	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	783	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	186					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.557C>T	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	C	9.346	1.064250	0.20067	.	.	ENSG00000178338	ENST00000322434	T	0.26957	1.7	2.97	-2.13	0.07144	.	.	.	.	.	T	0.16981	0.0408	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31475	-0.9942	9	0.59425	D	0.04	.	3.771	0.08642	0.189:0.2322:0.0:0.5787	.	186	Q96LW1	Z354B_HUMAN	L	186	ENSP00000327143:S186L	ENSP00000327143:S186L	S	+	2	0	ZNF354B	178242616	0.000000	0.05858	0.247000	0.24249	0.224000	0.24922	-0.911000	0.04050	-0.104000	0.12154	0.561000	0.74099	TCA		0.308	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		11	87	0	0	0	0.069234	0	11	87				
HOXB1	3211	broad.mit.edu	37	17	46607812	46607812	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:46607812A>C	ENST00000239174.6	-	1	547	c.455T>G	c.(454-456)tTt>tGt	p.F152C	HOXB1_ENST00000577092.1_Missense_Mutation_p.F152C	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	152					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCGGTGCAAAGCTCGCGGT	0.622																																						ENST00000239174.6																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(454-456)tTt>tGt		homeobox B1							62.0	65.0	64.0					17																	46607812		2203	4300	6503	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607812A>C		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.455T>G	17.37:g.46607812A>C	ENSP00000355140:p.Phe152Cys					HOXB1_ENST00000577092.1_Missense_Mutation_p.F152C	p.F152C	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN			1	547	-			152					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.455T>G	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047406	0.55110	.	.	ENSG00000120094	ENST00000239174	D	0.88975	-2.45	4.71	4.71	0.59529	.	0.139926	0.33290	N	0.005079	D	0.82632	0.5079	L	0.38175	1.15	0.31002	N	0.720172	D	0.57257	0.979	B	0.43155	0.41	T	0.82414	-0.0469	10	0.40728	T	0.16	.	8.6966	0.34301	0.9137:0.0:0.0863:0.0	.	152	P14653	HXB1_HUMAN	C	152	ENSP00000355140:F152C	ENSP00000355140:F152C	F	-	2	0	HOXB1	43962811	1.000000	0.71417	0.976000	0.42696	0.725000	0.41563	5.992000	0.70609	1.982000	0.57802	0.533000	0.62120	TTT		0.622	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			9	85	0	0	0	0.047766	0	9	85				
RNF123	63891	broad.mit.edu	37	3	49758486	49758487	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:49758486_49758487insA	ENST00000327697.6	+	38	3916_3917	c.3772_3773insA	c.(3772-3774)tatfs	p.Y1258fs	RNF123_ENST00000433785.1_Frame_Shift_Ins_p.Y370fs|AMIGO3_ENST00000320431.7_5'Flank|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_3'UTR|GMPPB_ENST00000480687.1_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1258					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCCCATCTGCTATGCCCACCCC	0.604																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3772-3774)tgcfs		ring finger protein 123																																				SO:0001589	frameshift_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49758486_49758487insA	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3773dupA	3.37:g.49758487_49758487dupA	ENSP00000328287:p.Tyr1258fs					AMIGO3_ENST00000535833.1_5'UTR|RNF123_ENST00000433785.1_Frame_Shift_Ins_p.C370fs|GMPPB_ENST00000480687.1_3'UTR|GMPPB_ENST00000308375.6_3'UTR	p.C1258fs	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	38	3916_3917	+			1258					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Frame_Shift_Ins	INS	ENST00000327697.6	37	c.3772_3773insA	CCDS33758.1																																																																																				0.604	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		24	124						24	124	---	---	---	---
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	lincRNA	INS	-	-	TAAAA	rs34328926|rs80243332|rs60523167|rs5869706	byFrequency	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				MIR583_ENST00000384846.1_RNA|CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA																							acccatgcacttaaagttaaaa	0.361														2975	0.59405	0.7156	0.4813	5008	,	,		22499	0.495		0.6362	False		,,,				2504	0.5685					ENST00000507997.1																			0																	2353,1165		895,563,301						0.2	0.1		dbSNP_114	36	3841,2837		1367,1107,865	no	intergenic				2262,1670,1166	A1A1,A1R,RR		42.4828,33.1154,39.2507				6194,4002						0							g.chr5:95414786_95414787insTAAAA																													5.37:g.95414786_95414787insTAAAA						CTD-2337A12.1_ENST00000502645.2_RNA|CTD-2337A12.1_ENST00000511775.1_RNA								0	87	+									RNA	INS	ENST00000507997.1	37																																																																																						0.361	RP11-254I22.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000370578.1			3	4						3	4	---	---	---	---
HIST1H2BF	8343	broad.mit.edu	37	6	26199981	26199983	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:26199981_26199983delCTT	ENST00000359985.1	+	1	234_236	c.195_197delCTT	c.(193-198)tccttc>tcc	p.F66del	HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	66					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)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				TCATGAACTCCTTCGTCAACGAT	0.581																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(193-198)tcc>tc		histone cluster 1, H2bf																																				SO:0001651	inframe_deletion	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199981_26199983delCTT	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.195_197delCTT	6.37:g.26199981_26199983delCTT	ENSP00000353074:p.Phe66del						p.SF65del	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	234_236	+		all_hematologic(11;0.196)	65					P02278|Q3B872|Q4VB69|Q93078|Q93080	In_Frame_Del	DEL	ENST00000359985.1	37	c.195_197delCTT	CCDS4592.1																																																																																				0.581	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		40	362						40	362	---	---	---	---
POM121C	100101267	broad.mit.edu	37	7	75045497	75045497	+	IGR	DEL	G	G	-	rs201842651	byFrequency	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:75045497delG	ENST00000257665.5	-	0	5700				NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C						mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGGTCGTGGAGGGGGGGGATG	0.657													|||unknown(NO_COVERAGE)	508	0.101438	0.2995	0.0317	5008	,	,		10857	0.001		0.0398	False		,,,				2504	0.0501					ENST00000393633.2																			0				large_intestine(1)|lung(1)	2												589,1955		269,51,952	7.0	15.0	12.0			2.1	0.0	7	dbSNP_114	12	725,5999		314,97,2951	no	near-gene-3				583,148,3903	A1A1,A1R,RR		10.7823,23.1525,14.1778			75045497	1314,7954	2010	4158	6168	SO:0001628	intergenic_variant	155400							g.chr7:75045497delG		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238		7.37:g.75045497delG														0	4280	+								O75115|Q9Y2N3|Q9Y4S7	RNA	DEL	ENST00000257665.5	37																																																																																						0.657	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		3	6						3	6	---	---	---	---
C8orf37-AS1	100616530	broad.mit.edu	37	8	96415908	96415913	+	lincRNA	DEL	TTTTTT	TTTTTT	-	rs547474951|rs140735178		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:96415908_96415913delTTTTTT	ENST00000521905.1	+	0	126																											aataaaAGACtttttttttttttttt	0.325																																						ENST00000521905.1																			0																																																			100616530							g.chr8:96415908_96415913delTTTTTT																													8.37:g.96415914_96415919delTTTTTT														0	126	+									RNA	DEL	ENST00000521905.1	37																																																																																						0.325	KB-1047C11.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000379669.1			2	4						2	4	---	---	---	---
USP5	8078	broad.mit.edu	37	12	6972476	6972481	+	In_Frame_Del	DEL	GCCTTG	GCCTTG	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:6972476_6972481delGCCTTG	ENST00000229268.8	+	15	1941_1946	c.1889_1894delGCCTTG	c.(1888-1896)agccttggt>agt	p.LG631del	USP5_ENST00000389231.5_Intron|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	631	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CCCAAAGGTAGCCTTGGTTTCTATGG	0.587																																						ENST00000229268.8																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(1888-1896)agt>a		ubiquitin specific peptidase 5 (isopeptidase T)																																				SO:0001651	inframe_deletion	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6972476_6972481delGCCTTG	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1889_1894delGCCTTG	12.37:g.6972476_6972481delGCCTTG	ENSP00000229268:p.Leu631_Gly632del					USP5_ENST00000389231.5_Intron|USP5_ENST00000541969.1_3'UTR	p.SLG630del	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN			15	1941_1946	+			630					D3DUS7|D3DUS8|Q96J22	In_Frame_Del	DEL	ENST00000229268.8	37	c.1889_1894delGCCTTG	CCDS41743.1																																																																																				0.587	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			22	186						22	186	---	---	---	---
CCDC64	92558	broad.mit.edu	37	12	120527826	120527826	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:120527826delA	ENST00000397558.2	+	8	1511	c.1511delA	c.(1510-1512)gatfs	p.D504fs	CCDC64_ENST00000446727.2_Frame_Shift_Del_p.D175fs|CCDC64_ENST00000257583.4_Frame_Shift_Del_p.D201fs	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	504					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGTTGCTGGATGCCATTCAG	0.532																																						ENST00000397558.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1510-1512)gtfs		coiled-coil domain containing 64							100.0	100.0	100.0					12																	120527826		1994	4181	6175	SO:0001589	frameshift_variant	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120527826delA	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1511delA	12.37:g.120527826delA	ENSP00000380690:p.Asp504fs					CCDC64_ENST00000257583.4_Frame_Shift_Del_p.D201fs|CCDC64_ENST00000446727.2_Frame_Shift_Del_p.D175fs	p.D504fs	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN			8	1511	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		504					A8MUC8|B4DWL0|B5MDJ0|O95000	Frame_Shift_Del	DEL	ENST00000397558.2	37	c.1511delA	CCDS41845.1																																																																																				0.532	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		34	126						34	126	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62254687	62254701	+	In_Frame_Del	DEL	ATACAAATCCAAATT	ATACAAATCCAAATT	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:62254687_62254701delATACAAATCCAAATT	ENST00000261517.5	-	34	3545_3559	c.3472_3486delAATTTGGATTTGTAT	c.(3472-3486)aatttggatttgtatdel	p.NLDLY1158del	VPS13C_ENST00000395896.4_In_Frame_Del_p.NLDLY1158del|VPS13C_ENST00000395898.3_In_Frame_Del_p.NLDLY1115del|VPS13C_ENST00000249837.3_In_Frame_Del_p.NLDLY1115del	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TAGCATCTGGATACAAATCCAAATTAAAACGGAAA	0.367																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3472-3486)del		vacuolar protein sorting 13 homolog C (S. cerevisiae)																																				SO:0001651	inframe_deletion	54832				protein localization			g.chr15:62254687_62254701delATACAAATCCAAATT	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3472_3486delAATTTGGATTTGTAT	15.37:g.62254687_62254701delATACAAATCCAAATT	ENSP00000261517:p.Asn1158_Tyr1162del					VPS13C_ENST00000249837.3_In_Frame_Del_p.NLDLY1115del|VPS13C_ENST00000395898.3_In_Frame_Del_p.NLDLY1115del|VPS13C_ENST00000395896.4_In_Frame_Del_p.NLDLY1158del	p.NLDLY1158del	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			34	3545_3559	-			1158						In_Frame_Del	DEL	ENST00000261517.5	37	c.3472_3486delAATTTGGATTTGTAT	CCDS32257.1																																																																																				0.367	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		22	322						22	322	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC														0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	3						4	3	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56278955	56278955	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr18:56278955delC	ENST00000361673.3	-	2	288	c.75delG	c.(73-75)gagfs	p.E25fs		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	25	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CGTCTGACTTCTCAGGAACCT	0.483																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(73-75)gafs		alpha-kinase 2							124.0	122.0	122.0					18																	56278955		1839	4099	5938	SO:0001589	frameshift_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56278955delC	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.75delG	18.37:g.56278955delC	ENSP00000354991:p.Glu25fs						p.E25fs	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			2	288	-			25			Ig-like 1.		Q6ZUX0|Q8NAT5|Q96L95	Frame_Shift_Del	DEL	ENST00000361673.3	37	c.75delG	CCDS11966.2																																																																																				0.483	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		19	207						19	207	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57325826	57325835	+	Frame_Shift_Del	DEL	AGCTCCTTTG	AGCTCCTTTG	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:57325826_57325835delAGCTCCTTTG	ENST00000326441.9	-	10	4338_4347	c.3975_3984delCAAAGGAGCT	c.(3973-3984)ctcaaaggagctfs	p.LKGA1325fs	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.LKGA1201fs|PEG3_ENST00000423103.2_Frame_Shift_Del_p.LKGA1325fs|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.LKGA1199fs|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1325					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGAATGGTATAGCTCCTTTGAGGGGCTCAG	0.429																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(3973-3984)ctfs		paternally expressed 3																																				SO:0001589	frameshift_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325826_57325835delAGCTCCTTTG	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3975_3984delCAAAGGAGCT	19.37:g.57325826_57325835delAGCTCCTTTG	ENSP00000326581:p.Leu1325fs					ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.LKGA1201fs|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.LKGA1325fs|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.LKGA1199fs|ZIM2_ENST00000601070.1_Intron	p.LKGA1325fs	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	4338_4347	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1325					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Frame_Shift_Del	DEL	ENST00000326441.9	37	c.3975_3984delCAAAGGAGCT	CCDS12948.1																																																																																				0.429	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			8	142						8	142	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25666234	25666234	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:25666234delT	ENST00000376436.1	-	3	758	c.219delA	c.(217-219)gaafs	p.E74fs	ZNF337_ENST00000252979.5_Frame_Shift_Del_p.E74fs|ZNF337_ENST00000538750.1_Intron|ZNF337_ENST00000481610.1_5'UTR			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCTTCTCTCTTCTCCCCAGG	0.572																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(217-219)gafs		zinc finger protein 337							149.0	153.0	151.0					20																	25666234		2203	4300	6503	SO:0001589	frameshift_variant	26152							g.chr20:25666234delT		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.219delA	20.37:g.25666234delT	ENSP00000365619:p.Glu74fs					ZNF337_ENST00000538750.1_Intron|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.E74fs|ZNF337_ENST00000481610.1_5'UTR	p.E74fs							3	758	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.219delA	CCDS13174.1																																																																																				0.572	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			90	507						90	507	---	---	---	---
